homozygous variants are counted as two alleles.
TOTAL | 1221 |
Deletions and insertions | 355 (29,07%) |
Deletions | 244 (19,98%) |
Out of frame deletions | 231 (18,92%) |
In frame deletions | 13 (1,06%) |
Insertions | 111 (9,09%) |
Out of frame insertions | 107 (8,76%) |
In frame insertions | 4 (0,33%) |
Point mutations | 631 (51,68%) |
Missenses | 414 (33,91%) |
Nonsense | 217 (17,77%) |
  |   |
G->A | 61 |
G->A at CpG | 68 |
C->T | 73 |
C->T at CpG | 128 |
A->T | 9 |
A->G | 24 |
A->C | 7 |
T->G | 4 |
T->C | 42 |
T->A | 6 |
C->A | 32 |
C->G | 49 |
G->T | 98 |
G->C | 30 |
  |   |
Intronic mutations | 186 (15,23%) |
  |   |
Complex mutations | 0 (0%) |
  |   |
Indels | 49 (4,01%) |