The UMD-DYSF mutations database
GLOBAL ANALYSIS


All mutational entries (from index cases and relatives)
All alleles (from index cases and relatives)

TOTAL 1174
Deletions and insertions 322 (27,42%)
   Deletions 215 (18,31%)
      Out of frame deletions 202 (17,21%)
      In frame deletions 13 (1,11%)
   Insertions 107 (9,11%)
      Out of frame insertions 103 (8,77%)
      In frame insertions 4 (0,34%)
Point mutations 608 (51,79%)
   Missenses 398 (33,9%)
   Nonsense 210 (17,89%)
   
G->A 52
G->A at CpG 66
C->T 72
C->T at CpG 122
A->T 8
A->G 25
A->C 6
T->G 4
T->C 39
T->A 6
C->A 29
C->G 54
G->T 92
G->C 33
   
Intronic mutations 180 (15,33%)
   
Complex mutations 0 (0%)
   
Indels 64 (5,45%)

TOTAL 1554
Deletions and insertions 435 (27,99%)
   Deletions 293 (18,85%)
      Out of frame deletions 278 (17,89%)
      In frame deletions 15 (0,97%)
   Insertions 142 (9,14%)
      Out of frame insertions 138 (8,88%)
      In frame insertions 4 (0,26%)
Point mutations 782 (50,32%)
   Missenses 517 (33,27%)
   Nonsense 265 (17,05%)
   
G->A 73
G->A at CpG 79
C->T 89
C->T at CpG 154
A->T 9
A->G 27
A->C 7
T->G 4
T->C 53
T->A 6
C->A 34
C->G 77
G->T 126
G->C 44
   
Intronic mutations 224 (14,41%)
   
Complex mutations 0 (0%)
   
Indels 113 (7,27%)

Heterozygous variants are counted as one allele
homozygous variants are counted as two alleles.
All alleles (from index cases ony)
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%)
Heterozygous variants are counted as one allele
homozygous variants are counted as two alleles.