Table 2. A summary of the cosegregation results for individuals carrying c.5603A>T.
|
Genotypes |
Number of unaffected individuals | Number of affected individuals | Median age of onset | Age of onset range | |
|---|---|---|---|---|---|
| Allele1 | Allele2 | ||||
| c.5603A>T |
|
6 |
0 |
N/A |
N/A |
| c.5603A>T |
c.5603A>T |
1 |
0 |
N/A |
N/A |
| c.5603A>T |
c.6079C>T |
1 |
0 |
N/A |
N/A |
| [c.5603A>T; c.4469G>A] |
|
36 |
4* |
12 |
12 |
| [c.5603A>T; c.4469G>A] |
c.5603A>T |
4 |
0 |
N/A |
N/A |
| [c.5603A>T; c.4469G>A] |
[c.5603A>T;c.4469G>A] |
0 |
12 |
8 |
7 - 10 |
| [c.5603A>T; c.4469G>A] |
c.6079C>T |
0 |
7 |
11 |
7 - 15 |
| [c.5603A>T; c.4469G>A] |
c.454C>T |
0 |
2 |
8 |
7 - 9 |
| [c.5603A>T; c.4469G>A] |
c.3304G>T |
0 |
1 |
13 |
13 |
| [c.5603A>T;c.4469G>A] |
c.1804C>T |
0 |
10 |
8.5 |
4 - 12 |
| [c.5603A>T; c.4469G>A] |
c.768G>T |
0 |
3 |
7 |
5 - 9 |
| [c.5603A>T; c.4469G>A] |
c.6107A>G |
0 |
1 |
18 |
18 |
| [c.5603A>T; c.4469G>A] |
c.4169T>C |
0 |
2 |
8 |
8 |
| [c.5603A>T; c.4469G>A] |
c.5714+5G>A |
0 |
2 |
10 |
9 - 11 |
| [c.5603A>T; c.5461–10T>C] |
|
12 |
0 |
N/A |
N/A |
| [c.5603A>T; c.5461–10T>C] |
c.5603A>T |
1 |
0 |
N/A |
N/A |
| [c.5603A>T; c.5461–10T>C] |
[c.5603A>T; c.5461–10T>C] |
0 |
4 |
7 |
6 - 9 |
| [c.5603A>T; c.5461–10T>C] |
c.454C>T |
0 |
2 |
6.5 |
5 - 8 |
| [c.5603A>T; c.5461–10T>C] |
c.3056C>T |
0 |
2 |
7.5 |
6 - 9 |
| [c.5603A>T; c.5461–10T>C] |
c.2966T>C |
0 |
1 |
13 |
13 |
| [c.5603A>T; c.5461–10T>C] |
c.1804C>T |
0 |
1 |
11 |
11 |
| [c.2588G>C; c.5603A>T] |
|
7 |
1* |
6 |
6 |
| [c.2588G>C; c.5603A>T] |
c.5603A>T |
1 |
0 |
N/A |
N/A |
| [c.2588G>C; c.5603A>T] |
c.768G>T |
0 |
1 |
20 |
20 |
| [c.2588G>C; c.5603A>T] |
c.454C>T |
0 |
2 |
30 |
30 |
| [c.2588G>C; c.5603A>T] |
[c.6282+7G>A>A,c.4319T>C] |
0 |
2 |
16 |
5 - 27 |
| [c.5603A>T, c.4469G>A] |
[c.5603A>T; c.2588G>C] |
0 |
2 |
17.5 |
16 - 19 |
| [c.5603A>T; c.4469G>A] | [c.5603A>T; c.5461–10T>C] | 0 | 8 | 8 | 0 - 10 |
Each individual (n=139) is represented once in the table. * denotes an unresolved case, i.e. second change is unknown.