Table 2. Mutations in 98 males from 56 families divided by location and mutation type.
| Mutation Type | Mutation | Exon | # Patients | Grade 1(%) | Grade 2(%) | Grade 3(%) |
| Ex1–14 Missense | c.194G>A (p.G65D) [16] | 3 | 2 | 0 | 1 | 1 |
| c.296C>T (p.T99I) | 4 | 1 | 1 | 0 | 0 | |
| c.617C>T (p.T206I) | 6 | 1 | 0 | 0 | 1 | |
| c.815G>A (p.G272D) | 8 | 1 | 1 | 0 | 0 | |
| Total for Category: | 2 (40) | 1 (20) | 2 (40) | |||
| Ex1–14 Splice Site | IVS2-1G>A [52] | 3 | 1 | 2 | 0 | |
| c.301_IVS4+3del | 2 | 0 | 1 | 1 | ||
| IVS4+3A>G [53] | 1 | 0 | 0 | 1 | ||
| IVS7-1G>A [12] | 1 | 0 | 1 | 0 | ||
| IVS13-8 A>G [54] | 1 | 0 | 0 | 1 | ||
| IVS13-1_1576delGAAACinsAA | 1 | 0 | 0 | 1 | ||
| Total for Category: | 1 (12) | 4 (44) | 4 (44) | |||
| Ex1–14 Nonsense | c.730A>T (p.K244X) [55] | 7 | 3 | 0 | 0 | 3 |
| c.838_842del (p.L280X) [12] | 8 | 2 | 0 | 1 | 1 | |
| c.851C>G (p.S284X) | 8 | 1 | 0 | 1 | 0 | |
| c.1126G>T (p.E376X) | 10 | 2 | 0 | 0 | 2 | |
| Total for Category: | 0 (0) | 2(25) | 6 (75) | |||
| Ex1–14 Frameshift | c.101del (p.N34Mfs*34) [55] | 2 | 10 | 0 | 2 | 8 |
| c.219del (p.A74Pfs*11) | 3 | 1 | 0 | 1 | 0 | |
| c.356del (p.L119Wfs*14) [56] | 5 | 1 | 0 | 1 | 0 | |
| c.372del (p.E125Kfs*8) [53] | 5 | 1 | 0 | 0 | 1 | |
| c.629_639del (p.E210Vfs*5) [57] | 7 | 2 | 0 | 0 | 2 | |
| c.1092dupA (p.A365Cfs*12) | 10 | 1 | 0 | 0 | 1 | |
| c.1243_1244del (p.R415Gfs*37) | 10 | 2 | 0 | 2 | 0 | |
| c.1319_1322del (p.C440Ffs*35) | 11 | 2 | 0 | 2 | 0 | |
| c.1377_1378del (p.L460Ifs*2) [58] | 11 | 3 | 1 | 1 | 1 | |
| c.1662_1665del (p.E555Gfs*14) | 14 | 1 | 1 | 0 | 0 | |
| Total for Category: | 2 (8) | 9 (38) | 13 (54) | |||
| TOTAL FOR EX1–14: | 5(11) | 16(35) | 25(54) | |||
| ORF15 Nonsense | ORF15+327A>T (ORF15K109X) [12] | 1 | 0 | 0 | 1 | |
| ORF15+393G>T (ORF15Glu129X) [57] | 2 | 1 | 0 | 1 | ||
| ORF15+423G>T (ORF15Glu141X) | 1 | 0 | 1 | 0 | ||
| ORF15+459G>T (ORF15G153X) | 2 | 0 | 0 | 2 | ||
| Total for Category: | 1 (17) | 1 (17) | 4 (66) | |||
| ORF15 FS <50aa | ORF15+483_484del (ORF15E161Rfs*23) [7] | 6 | 1 | 1 | 4 | |
| ORF15+587del (ORF15A196Rfs*34) [12] | 3 | 0 | 3 | 0 | ||
| ORF15+652_653del (ORF15E217Gfs*32) [7] | 17 | 6 | 7 | 4 | ||
| ORF15+673_674del (ORF15E224Gfs*25) [7] | 2 | 0 | 1 | 1 | ||
| ORF15+689_692del (ORF15G232fs*2) [7] | 2 | 1 | 1 | 0 | ||
| ORF15+730_743del (ORF15E828Gfs*2) | 1 | 1 | 0 | 0 | ||
| Total for Category: | 9 (29) | 13 (42) | 9 (29) | |||
| ORF15 FS>50aa | ORF15+185_186insAGAGG (ORF15A62Rfs*52) [57] | 1 | 0 | 0 | 1 | |
| ORF15+481_484del (ORF15R160Kfs*69) [12] | 1 | 0 | 0 | 1 | ||
| ORF15+499_502del (ORF15K166fs*229) [57] | 2 | 2 | 0 | 0 | ||
| ORF15+521_524del (ORF15G174Kfs*55) | 1 | 0 | 1 | 0 | ||
| ORF15+720del (ORF15E240Rfs*264) | 1 | 0 | 1 | 0 | ||
| ORF15+763_767del (ORF15E254Gfs*238) [12] | 2 | 1 | 1 | 0 | ||
| ORF15 c.764_765del (ORF15E256Gfs*237) [12] | 1 | 0 | 0 | 1 | ||
| ORF15+848_849del (ORF15E283Gfs*210) [59] | 2 | 1 | 1 | 0 | ||
| ORF15+872dupA (ORF15G291Rfs*203) [7] | 1 | 0 | 0 | 1 | ||
| ORF15+1038delG (ORF15E346R*158) | 1 | 1 | 0 | 0 | ||
| ORF15+1114delA (ORF15E371Gfs*133) [16] | 2 | 1 | 0 | 1 | ||
| Total for Category: | 6 (40) | 4 (27) | 5 (33) | |||
| TOTAL FOR ORF15: | 16 (30) | 18(35) | 18(35) | |||
FS<50aa = frameshift followed by fewer than 50 amino acids before termination, and FS>50aa = frameshift followed by more than 50 amino acids before termination. Mutations without a reference were detected in the Daiger laboratory.