Table 2.
Nucleotide change | Effect on protein | Case (n=1075) | Diagnosis/age |
---|---|---|---|
c.646delG |
A216 (229stop) |
3 |
BC/39,44,58 |
c.658delGT |
V220 (223stop) |
4 |
BC/43,51,55,73 |
c.5244delC |
S1748 (1748stop) |
0 |
|
c.7316delG | G2439 (2468stop) | 0 |
Nucleotide change | Effect on protein | Case (n=1075) | Diagnosis/age |
---|---|---|---|
c.646delG |
A216 (229stop) |
3 |
BC/39,44,58 |
c.658delGT |
V220 (223stop) |
4 |
BC/43,51,55,73 |
c.5244delC |
S1748 (1748stop) |
0 |
|
c.7316delG | G2439 (2468stop) | 0 |