Sample | DG* | Exon | Mutation | Predicted consequence | Reference |
---|---|---|---|---|---|
*S, sporadic; F, familial. | |||||
1095 | MFS,S | 2 | CGT>TGT | R114C | Novel mutation |
1333 | EL,F | 6 | CGC>TGC | R240C | Novel mutation |
1650 | MFS,F | 13 | GAA>TAA | E571X | Novel mutation |
1651 | MFS,F | 13 | GAA>TAA | E571X | Same as above |
1648 | MFS,S | 27 | IVS27+1G>A | Exon skipping | 37 |
1612 | MFS,F | 29 | GAA>GGA | E1200G | 23 |
1613 | MFS,F | 29 | GAA>GGA | E1200G | Same as above |
1652 | MFS,S | 32 | TGT>TGA | C1348X | Novel mutation |
1503 | MFS,S | 44 | TGT>TAT | C1835Y | 39 |
1561 | MFS,S | 46 | IVS47+5G>A | Exon skipping | Novel mutation |
1528 | MFS,S | 51 | TGT>CGT | C2111R | Novel mutation |
5213 | MFS,S | 57 | c.70397040delAT | Frame shift | Novel mutation |
1605 | MFS,S | 58 | CGA>TGA | R2414X | Novel mutation |
1371 | MFS,S | 58 | c.73087322del14 bp | Frame shift | Novel mutation |
1129 | AAE,F | 59 | TAC>TGC | Y2474C | Novel mutation |
1130 | AAE,F | 59 | TAC>TGC | Y2474C | Same as above |
1310 | AAE,F | 59 | TAC>TGC | Y2474C | Same as above |
1321 | AAE,F | 59 | TAC>TGC | Y2474C | Same as above |
1599 | MFS,S | 62 | TGC>TGG | C2582W | Novel mutation |
1306 | MFS,F | 63 | TGT>GGT | C2652G | Novel mutation |
1418 | MFS,F | 63 | TGT>GGT | C2652G | Same as above |
1419 | MFS,F | 63 | TGT>GGT | C2652G | Same as above |
1588 | MFS,S | 65 | CGA>TGA | R2776X | 40 |