           no   0                                                                                                                00     M                      p.Val000Met                                        p.Val000Met                            AR                     0               both eyes       no               no   0                                                                                                                00     W                       p.Arg000X                                          p.Arg000X                          sporadic                  0                  no           no               no   0                                                                                                                00     M                    p.Lys000GlnfsX0                                    p.Lys000GlnfsX0                       sporadic                  0                  no       unilateral       unilateral   00                                                                                                               00     M                      p.A