Database ID | Exon | DNA change | Status | Protein change | Ethnicity | Reference |
---|---|---|---|---|---|---|
VPS33B_00235 | 1-23 | c.(?_-354)_(*431 + d127_?)del | Het | p.(0?) | Hispanic | [14] |
VPS33B_00232 | △4 | c.240-577_290-156del | Het | p.(Leu81Serfs*5) | South American | [14] |
VPS33B_00221 | 1 | c.67C > T | Het | p.(Arg23*) | - | [14] |
VPS33B_00001 | 1 | c.89 T > C | Hom | p.(Leu30Pro) | Pakistani | [3] |
VPS33B_00223 | 1i | c.97-2A > C | Hom | p.(?) | - | [14] |
VPS33B_00002 | 2 | c.151C > T | Het | p.(Arg51*) | French | [8] |
VPS33B_00011 | 2i | c.177 + 1G > A | Hom | p.(?) | Italian | [3] |
VPS33B_00231 | 2i | c.178-2A > C | Hom | p.(?) | Turkish | [14] |
VPS33B_00224 | 2i | c.178-1G > C | Hom | p.(?) | Pakistani | [14] |
VPS33B_00233 | 3i | c.240-1G > C | Hom | p.(?) | - | [14] |
VPS33B_00003 | 4 | c.277C > T | Het | p.(Arg93*) | South American | [8] |
VPS33B_00004 | 5 | c.319C > T | Het | p.(Arg107*) | Scottish | [8] |
VPS33B_00005 | 5 | c.352C > T | Hom | p.(Gln118*) | Turkish | [7] |
VPS33B_00023 | 5 | c.350del | Hom | p.(Pro117Leufs*20) | Saudi Arabia | [3] |
VPS33B_00024 | 6 | c.369_370del | Het | p.(Cys123*) | South American | [8] |
VPS33B_00013 | 6i | c.403 + 1G > T | Het | p.(?) | Scottish | [8] |
VPS33B_00012 | 6i | c.403 + 1G > A | Het | p.(?) | Israel | [3] |
VPS33B_00014 | 6i | c.403 + 2 T > A | Het | p.(?) | Korean | [7] |
VPS33B_00025 | 7 | c.436_445del | Het | p.(Leu146Metfs*5) | French | [8] |
VPS33B_00015 | 7i | c.498 + 1G > A | Het | p.(?) | Swedish | [4] |
VPS33B_00026 | 8 | c.558_559del | Het | p.(Tyr187Trpfs*18) | Italian | [8] |
VPS33B_00006 | 9 | c.661C > T | Het | p.(Arg221*) | Korean | [21] |
VPS33B_00016 | 9i | c.701-1G > C | Hom | p.(?) | Israel | [25] |
VPS33B_00017 | 9i | c.700 + 1G > A | Het | p.(?) | Saudi Arabia | [15] |
VPS33B_00225 | 10 | c.711del | Het | p.(Phe237Leufs*2) | Pakistani | [14] |
VPS33B_00007 | 10 | c.728C > T | Het | p.(Ser243Phe) | Korean | [7] |
VPS33B_00027 | 10 | c.740_741del | Het | p.(Tyr247*) | Korean | [7] |
VPS33B_00226 | 11i | c.853-3C > G | Hom | p.(?) | Turkish | [14] |
VPS33B_00019 | 11i | c.853-2A > G | Het | p.(?) | Portuguese | [3] |
VPS33B_00018 | 12i | c.940-1G > A | Het | p.(?) | French | [8] |
VPS33B_00028 | 13 | c.971del | Hom | p.(Lys324Argfs*11 | Pakistani | [17] |
VPS33B_00227 | 13i | c.1030 + 5G > T | Hom | p.(?) | Saudi Arabia | [14] |
VPS33B_00029 | 16 | c.1208del | Het | p.(Leu403Cysfs*8) | Tahitian | [8] |
VPS33B_00230 | 16i | c.1225 + 5G > C | Het | p.(?) | South American | [14] |
VPS33B_00033 | 17 | c.1235_1236delCCinsG | Hom | p.(Pro412Argfs*7) | Polish | [7] |
VPS33B_00229 | 17 | c.1261_1262del | Het | p.(Gln421Valfs*8) | South American | [14] |
VPS33B_00008 | 18 | c.1312C > T | Hom | p.(Arg438*) | Pakistani | [3] |
VPS33B_00008 | 18 | c.1312C > T | Het | p.(Arg438*) | Saudi Arabia | [15] |
VPS33B_00008 | 18 | c.1312C > T | Het | p.(Arg438*) | Pakistani | [14] |
VPS33B_00219 | 18i | c.1406-2A > G | Hom | p.(?) | Saudi Arabia | [3] |
VPS33B_00220 | 18i | c.1406-1G > C | Hom | p.(?) | Turkish | [8] |
VPS33B_00228 | 20 | c.1498G > T | Hom | p.(Glu500*) | Hispanic | [14] |
VPS33B_00030 | 20 | c.1509dupG | Het | p.(Lys504Glufs*23) | Korean | |
VPS33B_00009 | 20 | c.1519C > T | Het/Hom | p.(Arg507*) | Portuguese | |
VPS33B_00218 | 20 | c.1519C > T | Het | p.(Arg507*) | Korean | [21] |
VPS33B_00031 | 20 | c.1576_1577insT | Hom | p.(Glu526Valfs*13) | Polish | [7] |
VPS33B_00010 | 21 | c.1594C > T | Hom | p.(Arg532*) | Pakistani | [3] |
VPS33B_00234 | 21i | c.1657 + 1G > A | Hom | p.(?) | Italian | [14] |
VPS33B_00032 | 23 | c.1803dupA | Het | p.(Val602Serfs*13) | Korean | [7] |