| Patients | Gene mutation | Protein | Reference |
| Present work | |||
| 1 | [c.586G→A]+[c.586G→A] | [p.D196N]+[p.D196N] | |
| 2 | [c.222_223insA]+[c.491C→A] | [p.Y74fsX97]+[p.T164K] | |
| 3 | [c.164C→T]+[c.164C→T] | [p.L55P]+[p.L55P] | |
| 4 | [c.487C→T]+[c.455C→T] | [p.R163W]+[p.T152I] | |
| 5 | [g.del ex 4–7]+[g.del ex 4–7] | Not translated | |
| 6 | [c.488G→A]+[c.488G→A] | [p,R163Q]+[p.R163Q] | |
| 7 | [c.406A→G]+[c.488G→A] | [p.T136A]+[p.R163Q] | |
| 8 | [c.505+1G→T]+[c.505+1G→T] | Splice exon–intron 4 | |
| 9 | [c.505+1G→T]+[c.505+1G→T] | Splice exon–intron 4 | |
| 10 | [g.del ex 4]+[g.del ex 4] | Not translated | |
| 11 | [c.505+1G→T]+[c.505+1G→T] | Splice exon-intron 4 | |
| 12 | [g.del ex 4]+[g.del ex 4] | Not translated | |
| 13 | [c.554T→G]+[g.del ex 4] | [p.L185R]/Not translated | |
| 14 | [c.505+1G→T]+[c.505+1G→T] | Splice exon-intron 4 | |
| Previously reported patients | |||
| A1 | [c.487C→G]+[c.487C→G] | [p.R163G]+[p.R163G] | 5 |
| A2 | [c.delC66]+[c.delC66] | [p.P22fsX32]+[p.P22fsX32] | 6 |
| A3 | [c.487C→T]+[c.487C→T] | [p.R163W]+[p.R163W] | 9 |
| 1 | [g.-83delCGCCC]+[c.376-1G→T] | Not translated | 3 |
| 2 | [g.del ex 4]+[g.del ex 4] | Not translated | 3 |
| 3 | [g.del ex 4]+[g.del ex 4] | Not translated | 3 |
| 4 | [c.3G→T]+[c.3G→T] | [p.M1I]+[p.M1I] | 3 |
| 5 | [c.488G→A]+[c.488G→A] | [p,R163Q]+[p.R163Q] | 3 |
| 6 | [c.187C→T]+[c.482G→A] | [p.Q63X]+[p.C161Y] | 3 |
| 7 | [c.230delA]+[c.230delA] | [p.N77fsX144]+[p.N77fsX144] | 3 |
| 8 | [g.del ex 1–7]+[g.del ex 1–7] | Not translated | 3 |
| 9 | [c.406A→G]+[c.488G→A] | [p.T136A]+[p.R163Q] | 3 |
| 10 | [c.34C→T]+[c.34C→T] | [p.Q12X]+[p.Q12X] | 3 |
| 11 | [c.375+5G→A]+[c.375+5G→A] | Splice exon–intron 3 | 3 |
| 12 | [c.487C→T]+[c.487C→T] | [p.R163W]+[p.R163W] | 3 |
| A | [c.604_605insG]+[c.604_605insG] | [p.V202fsX220]+[p.V202fsX220] | 1 |
| B | [c.3G→T]+[c.3G→T] | [p.M1I]+[p.M1I] | 1 |
| C | [g.del ex 4]+[g.del ex 4] | Not translated | 1 |
| D | [c.487C→T]+[c.487C→T] | [p.R163W]+[p.R163W] | 1 |
| E | [c.406A→G]+[c.406A→G] | [p.T136A]+[p.T136A] | 1 |
| F | [c.222_223insA]+[440_450del11] | [p.Y74fsX97]+[p.H147fsX176] | 1 |
| G | [c.222_223insA]+[c.222_223insA] | [p.Y74fsX97]+[p.Y74fsX97] | 1 |
| H | [g.del ex 1–7]+[g.del ex 1–7] | Not translated | 1 |
| I | [g.del ex 4]+[g.del ex 4] | Not translated | 1 |
| J | [c.505+1G→T]+[c.505+1G→T] | Splice exon–intron 4 | 1 |
| K | [c.375+5G→A]+[c.375+5G→A] | Splice exon–intron 3 | 1 |
| L | [c.131_132delAG]+[c.488G→A] | [p.E44fsX102]+[p.R163Q] | 1 |
| M | [c.592_593insC]+[c.592_593insC] | [p.H198fsX220]+[p.H198fsX220] | 1 |
| N | [c.487C→T]+[c.487C→T] | [p.R163W]+[p.R163W] | 1 |
| O | [c.113A→G]+[c.554T→G] | [p.Y38C]+[p.L185R] | 1 |
| P | [c.487C→T]+[c.487C→T] | [p.R163W]+[p.R163W] | 1 |
| Q | [c.505+1G→A]+[c.505+1G→A] | Splice exon–intron 4 | 1 |
Patients 1–5 of the present work carry novel mutations.