Mutation at cDNA level | Mutation at DNA level | Deletion/duplication size | Recombination mechanism | Repetitive element 5'/class/family | Repetitive element 3'/class/family | No. of probands |
---|---|---|---|---|---|---|
promoter_2exondel | c. -1823_190+566del | 13186bp | NAHR | AluY/SINE/Alu | AluY/SINE/Alu | 1 |
exon2_6dup | c. 67+3968_940+296dup | 14228bp | NAHR | AluSx1/SINE/Alu | AluSx3/SINE/Alu | 9 |
exon3_12del | c.190+984_1846-1160del | 17604bp | NAHR | FLAM_A/SINE/Alu | AluY/SINE/Alu | 1 |
exon4_8dup | c.314-446_1187-386dup | 8119bp | NHEJ | AluSx1/SINE/Alu | MER83/LTR/ERV1 | 1 |
exon5_10del | c. 695-67_1586+371del | 7636bp | NHEJ | AluJo/SINE/Alu | AluSx1/SINE/Alu | 4 |
exon9_14del | c.1186+700_2141-545del | 10291bp | NAHR | AluYa5/SINE/Alu | AluY/SINE/Alu | 10 |
exon9_15del) | c.1187-169_2312-790del | 14110bp | NAHR | AluJb/SINE/Alu | AluSx1/SINE/Alu | 8 |
exon16_18dup) | c.2311+1941_*1216dup | 7248bp | NAHR | AluYb8/SINE/Alu | AluSq2/SINE/Alu | 3 |