COL11A1 mutations
| ID | cDNA mutation | Genomic DNA mutation | Reference |
|---|---|---|---|
| MS1 | G-T G97V | G-T G97V | Richards et al, 199628 |
| MS40 | 774 bp deletion | Exon 31–42 deletion | Martin et al, 199930 |
| MS42 | Exon 15 skip (54 bp) | IVS 14 A-2 del | Martin et al, 199930 |
| MS67 | Exon 52 skip (54 bp) | IVS 52 G+1 – A+1 | This report |
| MS71 | Exon 61 skip (36 bp) | IVS 60 A-2 – G-2 | This report |
| JH1 | Exon 15 skip (54 bp) | IVS 14 A-2 del | This report |