Type and position of COL2A1 mutations. The position and type of mutations found in COL2A1 are indicated by nucleotide location within the COL2A1 gene (Accession NoL10347) Amino acids are numbered by the usual convention in which the first glycine of the triple helical region is 1. Amino acids in the N-propeptide are numbered from the initiating methionine
| Family |
Lod score (Zmax, θ=0) | Mutation | Exon | Effect |
| MS62 | 0.8 | 4246 G-A | 2 | W47X (N-propeptide) |
| MS11 | 2.1 | 4266 ins 4 bp | 2 | Frameshift: stop in exon 2 |
| MS13 | 1.1 | 4269 del 2 bp | 2 | Frameshift: stop in exon 2 |
| MS54 | Not analysed | 17189 del 1 bp | 21 | Frameshift: stop in exon 28 |
| MS2 | 0.3 | 22314 C-T | 35 | R585X |
| MS66 | 0.3 | 25671 ins C | 42 | Frameshift: stop in exon 42 |
| MS20 | 1.1 | 25716 C-T | 42 | R732X |
| MS18 | 0.5 | 25734 ins C | 42 | Frameshift: stop in exon 42 |
Zmax = maximum lod score, θ = recombination fraction.