Table 2.
Changes found in cDNA and its effect on the protein.
| Case | Gender | Clinical criteria | gDNA | cDNA | Protein | Type of mutation |
|---|---|---|---|---|---|---|
| 1 | M | 19 | g.54495273C>A | c.1138G>T | p.Glu380* | Novel |
| 2 | M | 12 | – | – | NC | – |
| 3 | M | 13 | – | – | NC | – |
| 4 | M | 20 | g.54481906G>A | c.1990C>T | p.Gln664* | Novel |
| 5 | M | 20 | g.54481906G>A | c.1990C>T | p.Gln664* | Novel |
| 6 | F | 9 | g.54495273C>A | c.1138G>T | p.Glu380* | Novel |
| 7 | F | 7 | – | – | NC | – |
| 8 | F | 11 | – | – | NC | – |
| 9 | F | 3 | g.54481906G>A | c.1990C>T | p.Gln664* | Novel |
gDNA, genomic DNA; cDNA, complementary DNA; M, male; F, female; NC, no change.