Table 1.
Patient ID | Exon | Nucleotide Change | Amino Acid Change |
---|---|---|---|
R06-573C | 30 | c.2386G>C | p.Gly796Arg |
53 | c.3943G>T | p.Gly1315X | |
R00-394 | 18 | c.1786dupG | p.Ala596GlyfsX8 |
42 | c.3124G>A | p.Gly1042Arg |
The nucleotide changes are shown with respect to COL11A1 mRNA sequence NM_001854.3, and the corresponding predicted amino acid change is numbered from the initiating methionine residue, where applicable. Exons are numbered sequentially 1–68, and exons 6 and 7 represent the alternatively spliced exons 6A and 6B, respectively.