Case number | Gender | F | Rec. | Index case genotype | |||
---|---|---|---|---|---|---|---|
Maternal allele | Exon | Paternal allele | Exon | ||||
Ceará State | |||||||
1 | M | 0 | N | c.83dupT | 2 | c.83dupT | 2 |
2 | F | 0 | N | c.83dupT | 2 | c.721C>T | 6 |
3 | M | 0 | N | c.721C>T | 6 | c.721C>T | 6 |
4 | F | 1/32 | N | c.953G>A | 8 | c.953G>A | 8 |
5 | F | 0 | N | c.83dupT | 2 | c.83dupT | 2 |
6 | M | 0 | N | c.721C>T | 6 | c.721C>T | 6 |
7 | F | ? | Sistera | c.721C>T | 6 | c.721C>T | 6 |
8 | M | 0 | Sister | c.436G>C | 5 | c.436G>C | 5 |
9 | M | 0 | N | c.83dupT | 2 | c.83dupT | 2 |
10 | M | 1/256 | N | c.83dupT | 2 | c.83dupT | 2 |
11 | M | 1/16 | N | c.721C>T | 6 | c.721C>T | 6 |
12 | F | 0 | Brotherb | c.721C>T | 6 | c.721C>T | 6 |
13 | M | 1/16 | N | c.436G>C | 5 | c.436G>C | 5 |
14 | M | 0 | Brother | c.436G>C | 5 | c.580G>A | 5 |
15 | M | 1/16 | N | c.436G>C | 5 | c.436G>C | 5 |
16 | M | 0 | N | c.83dupT | 2 | c.83dupT | 2 |
17 | F | 0 | N | c.83dupT | 2 | c.721C>T | 6 |
18 | M | 0 | N | c.436G>C | 5 | c.436G>C | 5 |
Other states | |||||||
19 | M | ? | Sistera | c.436G>C | 5 | c.436G>C | 5 |
20 | M | 0 | Sister | c.721C>T | 6 | c.436G>C | 5 |
21 | F | 0 | Brothera | c.953G>A | 8 | c.953G>A | 8 |
22 | F | 0 | N | c.953G>A | 8 | c.721C>T | 6 |
23 | M | ? | N | c.721C>T | 6 | c.721C>T | 6 |
24 | M | 1/16 | N | c.721C>T | 6 | c.721C>T | 6 |
26 | F | 0 | Sister | c.83dupT | 2 | c.721C>T | 6 |
27 | F | 1/64 | N | c.436G>C | 5 | c.436G>C | 5 |
28 | M | 1/256 | N | c.953G>A | 8 | c.953G>A | 8 |
29 | M | 0 | Sister | c.721C>T | 6 | c.436G>C | 5 |
30 | F | 0 | N | c.953G>A | 8 | c.83dupT | 2 |
32 | M | 1/16 | N | c.721C>T | 6 | c.721C>T | 6 |
33 | F | 1/256 | N | c.830C>T | 7 | c.830C>T | 7 |
Allele 1 | Allele 2 | ||||||
25c | M | 0 | N | c.436G>C | 5 | c.721C>T | 6 |
31c | M | 0 | N | c.436G>C | 5 | c.721C>T | 6 |