Stickler syndrome1-150
| COL2A1 | Ins 10bp, exon 4 | Frameshift |
53 |
Stickler syndrome1-150
| COL2A1 | Arg9Ter, exon 7 | Nonsense mutation |
54 |
Stickler syndrome1-150
1-151
| COL2A1 | A–2 →G, IVS17 | Aberrant splicing, frameshift |
55 |
Stickler syndrome1-150
| COL2A1 | Del A, exon 20 | Frameshift |
53 |
Stickler syndrome1-150
| COL2A1 | Arg704Cys, exon 39 | Missense mutation |
23
|
Stickler syndrome1-150
| COL2A1 | Arg732Ter, exon 40 | Nonsense mutation |
56 |
Stickler syndrome1-150
| COL2A1 | Del T, exon 40 | Frameshift |
57 |
Stickler syndrome1-150
| COL2A1 | Del T, exon 43 | Frameshift |
58 |
Stickler syndrome1-150
| COL2A1 | Ins G, exon 48 | Frameshift |
53 |
Stickler syndrome1-150
| COL2A1 | Del C, exon 50 | Frameshift |
59 |
Stickler syndrome with type 2 vitreous | COL11A1 | Del 1bp, acceptor splice site | Aberrant splicing, in frame exon skip |
26 |
Stickler syndrome with type 2 vitreous | COL11A1 | Gly97Val | Missense mutation |
25 |
Stickler syndrome with type 2 vitreous | COL11A1 | Del 40kb (multiple exons) | Large in frame deletion | 26 |