Table 4.
Genomic features of the mutations
|
A. Genome distribution of the mutations | ||||||
|---|---|---|---|---|---|---|
| Gene | Position | Repetitive sequence | Structural variation | Fragile site | ||
|
BPTF |
chr17:65850386 |
- |
+ |
- |
- |
- |
|
CACNB3 |
chr12:49220218 |
- |
+ |
- |
- |
- |
|
CHCHD1 |
chr10:75541868 |
- |
+ |
- |
- |
- |
|
FOXP1 |
chr3:71247489 |
- |
+ |
- |
- |
- |
|
GSTK1 |
chr7:142964824 |
- |
+ |
- |
- |
- |
|
ITGA1 |
chr5:52240783 |
- |
+ |
- |
- |
- |
|
LACRT |
chr12:55028594 |
- |
+ |
- |
- |
- |
|
PHKG2 |
chr16:30767746 |
- |
+ |
- |
- |
- |
|
SRA1 |
chr5:139936828 |
- |
+ |
- |
- |
- |
|
CLCN4 |
chrX:10176455 |
- |
+ |
- |
- |
- |
|
LAT |
chr16:29000901 |
- |
+ |
- |
- |
- |
|
KCTD8 |
chr4:44177010 |
- |
+ |
- |
- |
- |
|
ABLIM2 |
chr4:8055946 |
- |
+ |
4A |
5149099 |
8732840 |
|
PAMR1 |
chr11:35456266 |
- |
+ |
11E |
31043424 |
36443424 |
|
TTN |
chr2:179400887 |
- |
+ |
2G |
169791754 |
182991755 |
|
UEVLD |
chr11:18553971 |
- |
- |
11C |
16143424 |
21643424 |
|
ZNF24 |
chr18:32919897 |
- |
- |
18A |
32746002 |
37246002 |
|
CUL4B |
chrX:119680410 |
- |
- |
- |
- |
- |
|
SEMA3C |
chr7:80374250 |
- |
- |
- |
- |
- |
|
TBC1D22B |
chr6:37280778 |
- |
- |
- |
- |
- |
|
TMPRSS7 |
chr3:111797705 |
- |
- |
- |
- |
- |
|
ZNF304 |
chr19:57868409 |
+ |
- |
- |
- |
- |
| ZNF674 |
chrX:46359537 |
+ |
- |
- |
- |
- |
|
B. Transition/ transversion of the mutations | ||||||
|
Wild type |
Mutation |
Wild type |
Mutation |
|
|
|
| Common mutations (> = 2) | ||||||
| C |
T |
T |
G |
|
|
|
| C |
T |
G |
T |
|
|
|
| C |
T |
C |
G |
|
|
|
| C |
T |
|
|
|
|
|
| G |
A |
|
|
|
|
|
| G |
A |
|
|
|
|
|
| G |
A |
|
|
|
|
|
| G |
A |
|
|
|
|
|
| G |
A |
|
|
|
|
|
| Individual mutations | ||||||
| C |
T |
A |
T |
|
|
|
| G |
A |
A |
T |
|
|
|
| G |
A |
A |
C |
|
|
|
| G |
A |
G |
T |
|
|
|
| G |
A |
G |
T |
|
|
|
| |
|
C |
A |
|
|
|
|
C. Transition/Transversion ratio | ||||||
|
Class |
Transition |
Transversion |
Ratio |
|
|
|
| Total mutation |
14 |
9 |
1.6 |
|
|
|
| Common |
9 |
3 |
3 |
|
|
|
| Individual | 5 | 6 | 0.8 | |||