Table 2.
Involved Exon(s)/Change | Prediction |
---|---|
ex01ex54del→c.(?_-244)_8027+?del | No mRNA produced |
ex65ex66del→c.9362-?_9649+?del | IN-FRAME duplication |
ex10ex44dup→c.961-?_6438+?dup | IN-FRAME duplication |
ex38ex56dup→c.5326-?_8390+?dup | OUT-OF-FRAME duplication |
ex41ex50dup→c.5740-?_7309+?dup | OUT-OF-FRAME duplication |
ex43ex54dup→c.6118-?_8027+?dup | OUT-OF-FRAME duplication |
ex56ex65dup→c.8218-?_9563+?dup | OUT-OF-FRAME duplication |
ex63dup→c.9225-?_9286+?dup | OUT-OF-FRAME duplication |
ex 30 c.4120G > T p.(Glu1374Ter) | Stop codon |