Family number | Proband | Carrier status of mother | Fetus | Pregnancy outcome |
---|---|---|---|---|
1 | c.9568C > T | Yes | – | – |
2 | c.6804_6807delACAA | Yes | – | – |
2 | c.6804_6807delACAA | Yes | + | Termination |
3 | c.9564-427 T > G | No | – | – |
10 | c.1652G > A | Yes | + | Termination |
12 | c.6615-2A > G | Yes | – | – |
13 | c.412A > T | Yes | – | – |
14 | c.8299G > T | Yes | – | – |
15 | c.9204_9207delCAAA | Yes | + | Termination |
21 | Exon8–17 | Yes | – | – |
23 | Exon48–50 | Yes | – | – |
24 | Exon47–50 | No | – | – |
25 | Exon49–52 | Yes | – | – |
26 | Exon49–50 | Yes | + | Termination |
27 | Exon46–52 | Yes | + | Termination |
28 | Exon45–47 | Yes | + | Termination |
31 | Exon46–52 | Yes | Carrier | – |
33 | Exon47–50 | Yes | – | – |
34 | Exon49–52 | Yes | – | – |
36 | Exon51–54 | No | – | – |
37 | Exon51–54 | No | – | – |
39 | Exon18–41 | Yes | – | – |
40 | Exon17 | Yes | – | – |
41 | Exon51–55 | No | – | – |
42 | Exon45–50 | Yes | – | – |
44 | Exon50 | No | – | – |
45 | Exon45–50 | No | – | – |
46 | Exon45 | No | – | – |
47 | Exon50 | Yes | Carrier | – |
48 | Exon45–52 | No | – | – |
49 | Exon31–44 | Yes | + | Termination |
50 | Exon49–51 | Yes | + | Termination |
51 | Exon43–44 | Yes | Carrier | – |
52 | Exon45–50 | Yes | – | – |