Table 1.
Patient | Mutation |
---|---|
1 | [c.2643+1G>A]+[c.4577A>C] |
2 | [c.1481-1G>A]+[c.5836_5839del] |
3 | [c.3892A>G] |
4 | [c.3843+2T>A]+[c.5698_5699delAG] |
5 | [c.5497G>T]+[c.5946+1G>A] |
6 | [c.5509G>A]+[c.5509G>A] |
7 | [c.610C>T]+[c.1120G>C] |
8 | [c.3892A>G] |
9 | [c.353delT]+[c.5444G>T] |
10 | [c.3065G>A; c.3992G>T] |
11 | [c.4685dupT]+[c.4685dupT] |
12* | [c.1392dupA]+[c.3516_3517delTT] |
13* | [c.1392dupA]+[c.3516_3517delTT] |
14 | [c.3041A>G]+[c.5526-1G>A] |
15* | [c.610C>T]+ [c.5884C>T] |
16* | [c.610C>T]+ [c.5884C>T] |
17 | [c.5668-7G>A] |
18 | [c.1120G>C]+[c.5713C>T] |
19 | [c.855+1delG]+[c.3505insC] |
20 | [c.3041A>G]+[c.3041A>G] |
21 | [c.3478C>T]+[c.3478C>T] |
12, 13 siblings; 15, 16 brothers.
In bold: novel mutations.