Exon | Mutation | Mutation type |
---|---|---|
3 | c. 565C > T; p.E189X | Nonsense |
3 | c.481 C > T; p.R161X | Nonsense |
1 | c.203C > A; p.S68X | Nonsense |
2 | c.345_349delCCTTT; p.G114 fs*15 | Frameshift |
1 | c.162 insG; p. M54 fs*12 | Frameshift |
2 | c.450delT; p.N150 fs*9 | Frameshift |
1 | c. 203_209delCGCGCGA; p. S68 fs*89 | Frameshift |
1 | c.215_222delCCAGGTC; p. E70fs*57 | Frameshift |
3 | c.502_505delAGCC; p. S168 fs*1 | Frameshift |
2 | c.391_394delAACC; p.N131 fs*26 | Frameshift |
3 | c.638_639insT; p. D213fs*2 | Frameshift |
1 | c.199delA; p.N67Tfs*97 | Frameshift |
1 | c.306_314delGCCTGGCA p.P102Pfs*27 | Frameshift |
2 | c.411_413 insGT; p. V137Cfs*22 | Frameshift |
1 | c.339_340delAG; p.G114 fs*17 | Frameshift |
2 | c.444delT; p.F148 fs*11 | Frameshift |
1 | c.1101delA; p.V87 fs*47 | Frameshift |
1 | c.340G > T; p.G114C | Missense |
1 | c.234 T > G; p.N78 K | Missense |
3 | c.488 T > A; p.L163H | Missense |
1 | c.240 T > A; p.S80R | Missense |
1 | c.506C > T; p. L169P | Missense |
2 | c.602 T > C; p.L201R | Missense |
1 | c.194C > T p.S65 L | Missense |
2 | c.IVS2 + 2 T > C | Splicing |
2 | c.IVS1–1 G > C | Splicing |