|
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
|
