Disease | n | Gene* | Variants | Frequency (%) |
---|---|---|---|---|
AR | 56 | 5.34a | ||
DFNB1A | 27 | GJB2 | c.109G > A, c.109G > A | 2.55a |
10 | c.235delC, c.109G > A | |||
2 | c.235delC, c.235delC | |||
1 | c.109G > A, c.139G > T | |||
1 | c.583A > G, c.109G > A | |||
1 | c.508_511dupAACG, c.235delC | |||
α-thalassemia | 1 | HBA1/2 | -alpha 3.7, -alpha 3.7 | 0.38a |
2 | -SEA, -alpha 3.7 | |||
1 | -alpha 3.7, -SEA | |||
PCD | 1 | SLC22A5 | c.1195C > T, c.760C > T | 0.19a |
1 | c.1400C > G, c.1195C > T | |||
Phenylketonuria | 1 | PAH | c.472C > T, c.1174 T > A | 0.19a |
1 | c.721C > T, c.721C > T | |||
OCA | 1 | OCA2 | c.2359G > A, c.1426A > G | 0.09a |
SMA | 1 | SMN1 | EX7 DEL, EX7 DEL | 0.09a |
Joubert syndrome | 1 | CC2D2A | c.2848C > T, c.4583G > A | 0.09a |
HLH | 1 | PRF1 | c.65delC, c.1228C > T | 0.09a |
LGMD | 1 | DYSF | c.895G > A, c.2875C > T | 0.09a |
BH4D | 1 | PTS | c.155A > G, c.186 + 1G > A | 0.09a |
XL | 9 | 0.37b | ||
DMD | 1 | DMD | EX45_51DEL | 0.25b |
1 | c.8547 + 2 T > G | |||
1 | EX45_51DEL | |||
1 | EX1_4DUP | |||
1 | c.2776C > T | |||
1 | c.1615C > T | |||
MPS II | 1 | IDS | c.200 T > G | 0.08b |
1 | c.459delG | |||
Haemophilia B | 1 | F9 | c.316G > A | 0.04b |