From: Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
No | Variants | Alleles | Frequencies (%) |
---|---|---|---|
1 | 760C > T | 16 | 32 |
2 | c.1400C > G | 7 | 14 |
3 | c.51C > G | 7 | 14 |
4 | c.695C > T | 5 | 10 |
5 | c.1139C > T | 4 | 8 |
6 | c.797C > T | 3 | 6 |
7 | c.338G > A | 2 | 4 |
8 | c.845G > A | 1 | 2 |
9 | c.394-1G > A | 1 | 2 |
10 | c.782_799del | 1 | 2 |
11 | c.822G > A | 1 | 2 |
12 | c.1144_1162del | 1 | 2 |
13 | c.1160A > G | 1 | 2 |