Table 2. Summary of CHRDL1 mutations identified.
| Family Number | Nucleotide change | Protein change | Polyphen 2 (human variation score 0–1) | SIFT (tolerance index 0–1) | Blosum 62 score (−4 to 11) | ESP Total alleles | Reported |
| A | c.872G>A | p.(Cys291Tyr) | PRD (0.998) | TOLERATED (0.1) | −2 | 0/10,562 | This study |
| B | c.240T>A | p.(Cys80*) | NA | NA | NA | 0/10,562 | This study |
| C | c.1247-1_1247del | Unknown | NA | NA | NA | 0/10,562 | This study |
| D | c.100G>T | p.(Glu34*) | NA | NA | NA | 0/10,562 | This study |
| E | c.297C>A | p.(Cys99*) | NA | NA | NA | 0/10,562 | This study |
| F | c.865T>C | p.(Cys289Arg) | PRD (0.998) | DAMAGING (0) | −3 | 0/10,562 | This study |
| G | c.229C>T | p.(Arg77*) | NA | NA | NA | 0/10,5622 | This study |
| H | g.109964279_109973310delinsTTATGCTA | p.(Glu101Glyfs*42) | NA | NA | NA | 0/10,562 | This study |
| I | Whole gene deletion | No protein | NA | NA | NA | NA | This study |
| J | Whole gene deletion | No protein | NA | NA | NA | NA | This study |
| K | c.464G>A | p.(Cys155Tyr) | POS (0.796) | TOLERATED (0.4) | −2 | 0/10,562 | This study |
| 1 | Segmental deletion | Truncated protein product | NA | NA | NA | NA | [3] |
| 2 | c.102_103del | p.(Glu34Aspfs*14) | NA | NA | NA | 0/10,562 | [3] |
| 3 | c.782G>T | p.(Cys261Phe) | PRD (0.998) | DAMAGING (0) | −2 | 0/10,562 | [3] |
| 4 | c.301+2T>G | Unknown | NA | NA | NA | 0/10,562 | [3] |
| 5 | c.872del | p.(Cys291Leufs*25) | NA | NA | NA | 0/10,562 | [3] |
| 6 | c.652C>T | p.(Arg218*) | NA | NA | NA | 0/10,562 | [3] |
| 7 | Segmental deletion | No protein | NA | NA | NA | NA | [3] |
| NA | c.167del | p.(Pro56Leufs*8) | NA | NA | NA | 0/10,562 | [6] |
In silico analysis of rare CHRDL1 variants identified is presented. Polyphen 2 appraises mutations quantitatively as benign, possibly damaging (POS) or probably damaging (PRD) based on the model's false positive ratio. SIFT results are reported to be tolerant if tolerance index is ≥0.05 or intolerant if tolerance index is <0.05. Blosum62 substitution matrix score positive numbers indicate a substitution more likely to be tolerated evolutionarily and negative numbers suggest the opposite. The cDNA is numbered according to Ensembl transcript ID ENST00000372042. ESP denotes variants in the NHLBI ESP [accessed 26th March 2014]. Mutations reported in this study are highlighted in bold. NA = not available.