Table 3.
Location | Nucleotide change | Amino acid change | Previously reported | Frequency1 |
Exon 1 | 116 G→A | G 39 E | Yes | 0.40 |
Exon 2 | 276 A→G | P 92 P | Yes | 0.38 |
Exon 3 | 540 T→C | D 180 D | Yes | 0.24 |
Exon 4 | 642 C→T | Y 214 Y | Yes | 0.25 |
1Patients harboring/patients screened.