| Mutation group | Age of onset | Exon | Nucleotide change | Amino acid change | Type of mutation | Homo/ Hetero | First description |
| Complete loss of function | 1.8 | 4+8 | c.409_424dup + c.1193_1243dup | p.V142X + p.V415fs | Nonsense + Frameshift | Homo | [12] |
| Complete loss of function | 4.3 | 5 | c.599delT | p.L200fs | Frameshift | Homo | [12] |
| Complete loss of function | 1.5 | 7 | c.740_741delTT | p.F247fs | Frameshift | Homo | [12] |
| Complete loss of function | 1.7 | 8 | c.1096C > T | p.Q366X | Nonsense | Homo | [1] |
| Complete loss of function | 1 | 8 | c.1362_1377del16 | p.Y454fs | Frameshift | Homo | [31] |
| Complete loss of function | 1.3 | 8 | c.1619G > A | p.W540X | Nonsense | Homo | [12] |
| Complete loss of function | 4.2 | 8 | p.1775_1776insGGAT | p.E593fs | Frameshift | Homo | [12] |
| Complete loss of function | 5.1 | 8 | c.1838G > A | p.W613X | Nonsense | Homo | [2] |
| Complete loss of function | 3.3 | 8 | c.1919_1929del | p.L640fs | Frameshift | Homo | [12] |
| Complete loss of function | 3 | 6 | c.639_642del | p.A214Sfs | Frameshift | Homo | Our study |
| Partial loss of function | 2.6 | 7 + 8 | c.740_741delTT + c.2048T > C | p.F247fs + p.M683R | Frameshift + missense | Comp Hetero | [12] |
| Partial loss of function | 3.7 | 5 + 8 | c.599delT + c.2006A > G | p.L200fs + Y669C | Frameshift + missense | Comp Hetero | [1] |
| Partial loss of function | 4 | 8 | c.1251_1252delinsG + c.1973delA | p.F417fs + p.K658fs | Frameshift | Comp Hetero | [12] |
| Partial loss of function | 8.5 | 8 | c.1943G > A | p.W648X | Nonsense | Homo | [32] |
| Partial loss of function | 4.9 | 8 | c.1997G > A | p.W666X | Nonsense | Hetero | [33] |