Cases with one mutation |
1/31 | 1963 T/G*** | 14 | 630 Cys→Trp | 11 | 0.876 | 774 | Sporadic. Father carrier |
2/25 | 2214 C/G*** | 15 | 714 Ser→Stop | 12 | 0.562 | 619 | Sporadic. Mother carrier |
3/24 | 2621 G/A*** | 17 | 850 Glu→Lys | 14 | 2.0 | 927 | Sporadic |
4/22 | 3007 G/T*** | 19 | 978 Trp→Cys | 16 | 0.754 | 703 | Sibling HUS. Mother and grandmother carriers |
5/33 | 3200 T/C*** | 20 | 1043 Cys→Arg | 17 | 0.748 | 560 | Sporadic |
6/26 | 3299 C/G | 21 | 1076 Gln→Glu | 18 | 1.82 | 511 | Sporadic. Father carrier |
7/2 | 3474 T/G*** | 22 | 1134 Val to Gly | 19 | 0.835 | 835 | Sporadic. Mother carrier |
8/37 | 3497 T/G*** | 22 | 1142 Tyr to sp | 19 | 0.425 | 1007 | Sporadic |
9/28 | 3542 T/C*** | 22 | 1157 rP→Arg | 19 | 0.508 | 894 | Sporadic |
10/18 | 3566+1 G/A*** | 22 | Splice defect | 19 | 0.729 | 826 | Sporadic |
11/1 | 3620 C/T | 23 | 1183 Trp→ Arg | 20 | 0.890 | 619 | Familial. Paternal cousin and second-degree aunt on dialysis |
12/13 | 3701 C/T | 23 | 1210 Arg→Cys | 20 | 1,250 | 580 | Sporadic |
13/40 | 3719 delACA*** | 23 | 1216 del Thr | 20 | 0.368 | 534 | Sporadic |
14/33 | 3749 C/T*** | 23 | 1226 Pro→Ser | 20 | 1.020 | 1300 | Sporadic |
15/59 | 3768–71 delAGAA*** | 23 | Frameshift | 20 | 0.540 | 503 | Sporadic |
Case with two mutations |
16/39 | 3135 A/T*** and 3701 C/T | 20 | 1021 Lyr→Phe | 17 | 0.749 | 787 | Sporadic. Carriers: father, 3135A/T mother 3701C/T |
| | 23 | 1210 Arg→Cys | 20 | | | |