From: Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Family member | All variants (% novel) | Missense (% deleterious) | Splice site (% essential) | Frameshift | 5'UTR | 3'UTR | Stop gained | Stop lost |
---|---|---|---|---|---|---|---|---|
III.8 | 129 262 (1.23) | 11 250 (27.44) | 3 260 (5.58) | 202 | 5 791 | 32 408 | 119 | 58 |
IV.3 | 126 973 (1.27) | 11 023 (27.59) | 3 194 (6.20) | 214 | 5 823 | 31 995 | 120 | 55 |
IV.4 | 127 625 (1.27) | 11 135 (27.05) | 3 149 (5.84) | 210 | 5 733 | 31 881 | 114 | 55 |
IV.1 | 126 148 (1.17) | 11 006 (27.40) | 3 119 (5.67) | 206 | 5 684 | 31 545 | 125 | 60 |
IV.6 | 127 419 (1.29) | 11 022 (27.05) | 3 219 (5.87) | 218 | 5 767 | 31 843 | 122 | 58 |
V.10 | 127 737 (1.13) | 11 043 (27.45) | 3 158 (5.67) | 203 | 5 797 | 32 413 | 121 | 52 |
V.8 | 128 147 (1.16) | 11 056 (27.30) | 3 196 (5.79) | 218 | 5 749 | 32 288 | 112 | 56 |
V.9 | 127 099 (1.15) | 11 001 (27.52) | 3 192 (6.17) | 218 | 5 752 | 32 165 | 118 | 55 |
V.11 | 129 014 (1.38) | 11 382 (27.56) | 3 220 (6.06) | 204 | 5 814 | 32 512 | 126 | 56 |