F53 (4) | ATgtaagta→ATataagta* | Splicing | Ex 4 SD +1 | Deletion of ex 4 and frameshift |
F13 (2) | ATgtaagta→ATgtaacta* | Splicing | Ex 4 SD +5 | Deletion of ex 4 and frameshift |
F35 (1) | CAA→TAA* | Nonsense | 188 (ex 5) | Gln→stop |
F6 (5) | AAGCAaGGCA* | Deletion | 193 (ex 5) | Frameshift |
F17 (2), F30 (2) | CGA→TGA | Nonsense | 216 (ex 6) | Arg→stop |
F21 (5) | GAA→TAA* | Nonsense | 225 (ex 6) | Glu→stop |
F15 (9) | ATACTtCGT* | Deletion | 229 (ex 6) | Frameshift |
F68 (1) | CGA→TGA | Nonsense | 232 (ex 6) | Arg→stop |
F8 (4) | CAGtcccaagcaaCAGAA* | Deletion | 236-240 (exon 6) | Frameshift |
F1 (4) | CAG→TAG | Nonsense | 247 (ex 7) | Gln→stop |
F43 (1), F51 (1) | CGA→TGA | Nonsense | 283 (ex 8) | Arg→stop |
F64 (4) | TTG→TAG* | Nonsense | 292 (ex 8) | Leu→stop |
F87 (4) | TACTGT→TACCTGT | Insertion | 417 (ex 9) | Frameshift |
F46 (4) | GGGGAGACTACA* | Insertion | 471 (ex 11) | Frameshift |
F24 (3) | CGA→TGA | Nonsense | 499 (ex 11) | Arg→stop |
F18 (3) | CCCAAgGCATCT* | Deletion | 782 | Frameshift |
F47 (2) | TCTGAAAaaGA* | Deletion | 848 | Frameshift |
F28 (1), F32 (1) | CGA→TGA | Nonsense | 876 | Arg→stop |
F52 (2) | GGTTtGCAGA* | Deletion | 878 | Frameshift |
F89 (2) | GAA→TAA* | Nonsense | 892 | Glu→stop |
F66 (1) | TCA→TGA | Nonsense | 932 | Ser→stop |
F62 (4) | GTAAAAGagGTCAA* | Deletion | 976 | Frameshift |
F94 (1) | TGG→TAG* | Nonsense | 1049 | Trp→stop |
F55 (4), F65 (9) F95 (5) | GATGaaataAAACAA* | Deletion | 1059 | Frameshift |
F7 (3), F61 (2) | GAAATAAAacaaaGT | Deletion | 1061 | Frameshift |
F40 (2) | TCA→TGA* | Nonsense | 1068 | Ser→stop |
F25 (1) | GATGACTA→GATGGA TGACTA* | Insertion | 1134 | Frameshift |
F81 (4) | GAAGAAGaGAGAC* | Deletion | 1157 | Frameshift |
F86 (3) | CGTCAT=> CGTCAAT* | Insertion | 1172 | Frameshift |
F84 (2) | CACAGAGtAGAAGT* | Deletion | 1238 | Frameshift |
F26 (7) | GCTGCC→GCTTGCC* | Insertion | 1247 | Frameshift |
F37 (5), F44 (1), F76 (2), F82 (1) | AATAAAAGAaaagaTT | Deletion | 1309 | Frameshift |
F33 (3) | GAG→TAG* | Nonsense | 1398 | Glu→stop |
F27 (1) | CAG→TAG* | Nonsense | 1407 | Gln→stop |
F34 (1) | AAGAGAgagaGTGG | Deletion | 1465 | Frameshift |
F54 (2) | AGAGAGagTGGACCT | Deletion | 1466 | Frameshift |
F10 (7) | TCA→TGA* | Nonsense | 1546 | Ser→stop |
F80 (2) | TCAAAtgaaaACCAAG | Deletion | 1547 | Frameshift |