Exon 3
|
1 | LL | M | 145 ins G | Frameshift+Stop: X167 | Ep-Te |
2 | PS | M | 145 del G | Frameshift+Stop: X53 | Ep-Te |
3 | LPV | M | 152G>A | C51Y | Ep-Te |
4 | Dit201 | M | 172G>T | E58X | Ep-Te-L |
5 | MC | F | 199C>T | R67W | Te-L |
6 | P301 | F | 199C>T | R67W | Te-L |
7 | PP | M | 289-294del CACAAC | Del H97N98 in frame | Ep-Te |
8 | VG | F | 289-294del CACAAC | Del H97N98 in frame | Ep-Te-L |
|
Exon 7
|
9 | SA | F | 809-821delCACGCAGCTGTGG | Frameshift+Stop: X297 | Ep-Te |
10 | MoA | F | 858C>A | Y286X | Ep-Te |
11 | LG | F | 988G>T | D330Y | Ep-Te |
12 | SL | M | 1006G>T | C344F | Ep-Te |
|
Exon 8
|
13 | IAC302 | M | 1054G>C | A352P | Ep-Te |
14 | VC | F | 1080-99dupl GCACTCACAGGGCAGCGAT | Frameshift+Stop: X396 | Ep-Te-L |
15 | FP | M | 1133C>T | P378L | Ep-Te-L |
16 | M203 | M | 1199C>A | A400D | Ep-Te |