Location | Base change | Protein change | Mutation | Reference |
Exon 2 | c.11delT | p.(Leu4fs) | Frameshift | [17] |
Exon 2 | c.19_20delAG | p.(Leu7fs) | Frameshift | [18] |
Exon 2 | c.31_39delCTCCACGTC | p.(Leu11fs) | Frameshift | [19] |
Exon 2 | c.65C>T | p.(Ser22Phe) | Missense | [14] |
Intron 2 | c.78+1G>T |
| Splicing | [20] |
Intron 2 | c.78+5G>A |
| Splicing | [21] |
Intron 2 | c.79-13T>A | ? p.(Gln27fs) | Splicing/Frameshift | This study |
Exon 3 | c.88G>A | p.(Val30Met) | Missense | [22] |
Intron 3 | c.178+1G>C |
| Splicing | [23] |
Intron 3 | c.179-1G>C |
| Splicing | [24] |
Exon 4 | c.183G>A | p.(Trp61Ter) | Termination | [25] |
Exon 4 | c.183G>A | p.(Trp61Ter) | Termination | [26] |
Exon 4 | c.199G>A | p.(Ala67Thr) | Missense | [27] |
Exon 4 | c.227delG | p.(Ser76fs) | Frameshift | [28] |
Exon 4 | c.281_282insG | p.(Gly94fs) | Frameshift | [29] |
Exon 4 | c.281_282insG | p.(Gly94fs) | Frameshift | [30] |
Exon 4 | c.289delT | p.(Tyr97fs) | Frameshift | [31] |
Exon 4 | c.297delT | p.(Gly100fs) | Frameshift | [32] |
Intron 4 | c.320-1G>C |
| Splicing | [21] |
Intron 4/ Exon 5 | c.320-1_320delGGinsTA |
| Splicing | This study |
Exon 5 | c.320G>T | p.(Gly107Val) | Missense | [33] |
Exon 5 | c.328G>A | p.(Val110Met) | Missense | This study |
Exon 5 | c.353C>T | p.(Thr118Met) | Missense | [34] |
Exon 5 | c.353C>T | p.(Thr118Met) | Missense | [35] |
Exon 5 | c.353C>T | p.(Thr118Met) | Missense | This study |
Exon 5 | c.353C>T | p.(Thr118Met) | Missense | This study |
Exon 5 | c.364_365delCC | p.(Pro122fs) | Frameshift | [36] |
Exon 5 | c.372G>A | p.(Trp124Ter) | Termination | [37] |
Exon 5 | c.372G>A | p.(Trp124Ter) | Termination | [38] |
Exon 5 | c.392C>G | p.(Ser131Cys) | Missense | This study |
Exon 5 | c.395A>G | p.(Tyr132Cys) | Missense | This study |
Exon 5 | c.419G>A | p.(Trp140Ter) | Termination | [21] |
Exon 5 | c.433_434insC | p.(Leu145fs) | Frameshift | [39] |
Exon 5 | c.434delT | p.(Leu145fs) | Frameshift | This study |
Exon 5 | c.434delT | p.(Leu145fs) | Frameshift | [40] |
Exon 5 | c.469C>T | p.(Arg157Trp) | Missense | This study |
Exon 5 | c.475C>T | p.(Arg159Cys) | Missense | [41] |