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. 2016 Apr 1;6:23910. doi: 10.1038/srep23910

Table 2. In silico predictions for missense and splicing novel and non disease-associated mutations.

Family (RP) Gene Mutation Polyphen (score) Sift (score) NNSPLICE HSF Mutation taster
134 RPGR p.R1056S Benign (0.347) Damaging (0.02) – –  
435 USH2A p.V4190A Damaging (1) Damaging (0) – –  
95 BBS1 c.1474-2A > G – – Acceptor-site broken Acceptor-site broken Acceptor-site broken
512 RS1 c.522 + 1G > C – – Donor-site broken Probably no impact Donor-site broken
63 IMPDH1 c.402 + 57G > A – – Probably no impact Probably no impact Donor-site gained
118 CDH23 p.R1939K Damaging (0.997 ) Tolerated (0.56) – –  
157 NMNAT1 p.R66Q Damaging (0.962) Damaging (0) – –  
193 CEP290 p.R1752W Damaging (1) Damaging (0.01) – –  
236 USH2A p.G252C Damaging (0.999) Damaging (0.01) – –  
247 USH2A p.G2313C Damaging (1) Damaging (0) – –  
264 PRPF3 c.1283-60_1283-57del – – Probably no impact Probably no impact Probably no impact
449 BBS2 c.471 + 1G > A – – Donor-site broken Donor-site broken Donor-site broken