Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
2598COLLAGEN, TYPE II, ALPHA-1; COL2A1T-Lymphocytes + IL2Not affected
2599COLLAGEN, TYPE II, ALPHA-1; COL2A1T-Lymphocytes + IL2Not affected
2599COLLAGEN, TYPE II, ALPHA-1; COL2A1Lymphoblast cellsNot affected
2598COLLAGEN, TYPE II, ALPHA-1; COL2A1DNANot affected
4873COLLAGEN, TYPE II, ALPHA-1; COL2A1DNAAffected
4874COLLAGEN, TYPE II, ALPHA-1; COL2A1DNAAffected