Table 2. The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.
| Alleles | Name | ASVs | Remarks | Clones | % | ||
| Maternally-inherited | M-01 | r.213_468del | Exon 4,5 skipping | 8 | 33.3 | ||
| M-02 | r.70_468del | Exon 3,4,5 skipping | 4 | 16.7 | |||
| M-03 | r.213_468del; r.1453_1591del | Exon 4,5,15 skipping | 3 | 12.5 | |||
| M-04 | r.329_468del | Exon 5 skipping | 2 | 8.3 | |||
| M-05 | r.16_69del; r.213_468del | Exon 2,4,5 skipping | 1 | 4.2 | |||
| M-06 | r.70_468del; r.69_469ins212+6499_212+6611;r.1018_1019ins1018+1_1018+469 | Exon 3,4,5 skipping with intron3 and intron10fragment retention | 1 | 4.2 | |||
| M-07 | r.70_468del; r.1452_1453ins1452+12639_1452+12773 | Exon 3,4,5 skipping with intron14 fragment retention | 1 | 4.2 | |||
| M-08 | r.70_468del; r.1750_1751ins1750+1_1750+93 | Exon 3,4,5 skipping with intron16 retention | 1 | 4.2 | |||
| M-09 | r.213_468del; r.755_848del | Exon 4,5,8 skipping | 1 | 4.2 | |||
| M-10 | r.213_468del; r.69_70ins69+12147_69+12282 | Exon 4,5 skipping with intron2 fragment retention | 1 | 4.2 | |||
| M-11 | r.213_328del | Exon 4 skipping | 1 | 4.2 | |||
| In total | 24 | 100 | |||||
| Paternally-inherited | P-01 | r.213_328del; r.1399C>T | Exon 4 skipping | 1 | 33.3 | ||
| P-02 | r.213_468del; r.1399C>T | Exon 4,5 skipping | 1 | 33.3 | |||
| P-03 | r.213_328del;r.755_848del;r.1399C>T; r.1750_1751ins1750+1_1750+93 | Exon 4,8 skipping with intron16 retention | 1 | 33.3 | |||
| In total | 3 | 100 | |||||
In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-translation initiation codon.