Splice site mutations
| |
9
|
0.0313
|
c.1670+5G→T | 9 | 2 | 0.0069 |
c.2071+1G→T | Intron 12, splice donor | 2 | 0.0069 |
c.2926+1G→A | Intron 18, splice donor | 3 | 0.0104 |
c.2926+2T→C | Intron 18, splice donor | 1 | 0.0035 |
c.3207+1G→C | Intron 20, splice donor | 1 | 0.0035 |
| | | |
Insertions and deletions
| |
134
|
0.4653
|
c.434_448delTTGGGTTGATCAACAinsGCAA, V145GfsX24 | 4 | 1 | 0.0035 |
c.788_789delCA, T263IfsX6 | 5 | 1 | 0.0035 |
c.904delG, A302QfsX23 | 5 | 1 | 0.0035 |
c.911_912delCT, S304CfsX4 | 5 | 1 | 0.0035 |
c.1865_1866insGAGTGTGGA, H623insSVC | 11 | 2 | 0.0069 |
c.1900_2070del171bp, G634_H690del57 | 12 | 1 | 0.0035 |
c.2083_2085delATG, M695del | 13 | 2 | 0.0069 |
c.2085_2089delGATAA, M695IfsX45 | 13 | 1 | 0.0035 |
c.2097_2098insT, I700YfsX42
|
13
|
102
|
0.3542
|
c.2227_2416del190bp, ? | 14 | 3 | 0.0104 |
c.2537_2545delATGAAGTTAinsTCATGGT, H846LfsX52 | 15 | 1 | 0.0035 |
c.2730delA, L910FfsX51 | 17 | 4 | 0.0139 |
c.2814_2818delCTTTG, F938LfsX2 | 18 | 1 | 0.0035 |
c.2916delA, G973AfsX16 | 18 | 10 | 0.0347 |
c.3180_3181insT, G1061WfsX16 | 20 | 1 | 0.0035 |
c.3691_3694delCAGT, Q1231HfsX3 | 23 | 2 | 0.0069 |
| | | |
Nonsense mutations
| |
10
|
0.0347
|
c.781C→T, Q261X | 5 | 1 | 0.0035 |
c.1897C→T, R633X | 11 | 1 | 0.0035 |
c.2368C→T, R790X | 14 | 1 | 0.0035 |
c.2383C→T, R795X | 14 | 1 | 0.0035 |
c.2614C→T, R872X | 16 | 3 | 0.0104 |
c.2992C→T, R998X | 19 | 1 | 0.0035 |
c.3287C→G, S1096X | 21 | 1 | 0.0035 |
c.3378C→G, Y1126X | 21 | 1 | 0.0035 |
| | | |
Missense mutations
| |
134
|
0.4653
|
c.274G→C, V92L | 3 | 2 | 0.0069 |
c.1777G→A, G593R | 10 | 1 | 0.0035 |
c.1991T→C, L664P | 12 | 1 | 0.0035 |
c.2008C→A, L670M | 12 | 1 | 0.0035 |
c.2387T→C, L796P | 14 | 1 | 0.0035 |
c.2392C→G, R798G | 14 | 1 | 0.0035 |
c.2528G→A, G843D
| 15 |
124
|
0.4306
|
c.2846G→A, R949Q | 18 | 1 | 0.0035 |
c.3038G→A, R1013H | 20 | 1 | 0.0035 |
c.3850T→C, X1284Q | 24 | 1 | 0.0035 |
| | | |
Duplications
| |
1
|
0.0035
|
c.1951_1959dupCAGTGTGGA, W653_M654insTVW | 12 | 1 | 0.0035 |