Table 5. Frequency and proportion of the mutated SLC25A13 alleles in the large Chinese Pediatric cohort.
| No. | Mutations | Frequency | Percentage |
| 01 | 851_854del4 | 132 | 58.41 |
| 02 | 1638-1660dup | 20 | 8.85 |
| 03 | IVS6+5G>A | 19 | 8.41 |
| 04 | IVS16ins3kb | 17 | 7.52 |
| 05 | c.1399C>T(R467X) | 5 | 2.21 |
| 06 | c.955C>T(R319X) | 3 | 1.33 |
| 07 | IVS11+1G>A | 3 | 1.33 |
| 08 | c.754G>A | 2 | 0.88 |
| 09 | c.1092_1095delT | 2 | 0.88 |
| 10 | c.1078C>T(R360X) | 1 | 0.44 |
| 11 | c.1622C>A(A541D) | 1 | 0.44 |
| 12 | c.1231G>A(V411M) | 1 | 0.44 |
| 13 | c.847G>T(G283X) | 1 | 0.44 |
| 14 | c.998G>A(G333D) | 1 | 0.44 |
| 15 | c.475C>T(Q159X) | 1 | 0.44 |
| 16 | c.775C>T(Q259X) | 1 | 0.44 |
| 17 | g.2T>C | 1 | 0.44 |
| 18 | r.16-212dup | 1 | 0.44 |
| 19 | c.72T>A(Y24X) | 1 | 0.44 |
| 20 | c.1048G>A(D350N) | 1 | 0.44 |
| 21 | c.1063C>G(R355G) | 1 | 0.44 |
| 22 | c.1364G>T(R455L) | 1 | 0.44 |
| 23 | IVS4ins6kb | 1 | 0.44 |
| 24 | c.1215G>T(K405N) | 1 | 0.44 |
| 25 | c.265delG | 1 | 0.44 |
| 26 | c.1775A>C(Q592P) | 1 | 0.44 |
| 27 | Unknown | 6 | 2.7 |
| In total | 226* | 100 | |
*
Among the 116 patients, there were 3 siblings from 3 families. Therefore, the cohort comprised 226 mutated SLC25A13 alleles in total, including 6 unknown ones.