| Biopsy ID |
Patient ID |
Gene |
Diagnostic |
BOQA Prediction |
BOQA Score (0-1) |
Action |
| DEMO_BIOP1 |
DEMO_ID1 |
HGNC:12403 TTN |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP2 |
DEMO_ID2 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP3 |
DEMO_ID3 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP4 |
DEMO_ID4 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP5 |
DEMO_ID5 |
HGNC:129 ACTA1 |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP5 |
DEMO_ID6 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP7 |
DEMO_ID7 |
HGNC:12403 TTN |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP8 |
DEMO_ID8 |
HGNC:10483 RYR1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP9 |
DEMO_ID9 |
HGNC:10483 RYR1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP10 |
DEMO_ID10 |
HGNC:10483 RYR1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP11 |
DEMO_ID11 |
HGNC:10483 RYR1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP12 |
DEMO_ID12 |
HGNC:7448 MTM1 |
ORPHA:595 Centronuclear myopathy |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP13 |
DEMO_ID13 |
HGNC:7448 MTM1 |
ORPHA:595 Centronuclear myopathy |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP14 |
DEMO_ID14 |
HGNC:9752 QDPR |
ORPHA:595 Centronuclear myopathy |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP15 |
DEMO_ID15 |
HGNC:9752 QDPR |
ORPHA:595 Centronuclear myopathy |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP16 |
DEMO_ID16 |
|
UNCLEAR |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP17 |
DEMO_ID17 |
HGNC:1052 BIN1 |
UNCLEAR |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP18 |
DEMO_ID18 |
|
UNCLEAR |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP19 |
DEMO_ID19 |
|
UNCLEAR |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP20 |
DEMO_ID20 |
|
UNCLEAR |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP21 |
DEMO_ID21 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP22 |
DEMO_ID22 |
HGNC:10483 RYR1 |
ORPHA:595 Centronuclear myopathy |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP23 |
DEMO_ID23 |
HGNC:129 ACTA1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP24 |
DEMO_ID24 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP25 |
DEMO_ID25 |
|
UNCLEAR |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP26 |
DEMO_ID26 |
|
UNCLEAR |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP27 |
DEMO_ID27 |
HGNC:12403 TTN |
ORPHA:595 Centronuclear myopathy |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP28 |
DEMO_ID28 |
|
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP29 |
DEMO_ID29 |
HGNC:10483 RYR1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP30 |
DEMO_ID30 |
HGNC:12403 TTN |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP31 |
DEMO_ID31 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP33 |
DEMO_ID32 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP33 |
DEMO_ID33 |
HGNC:12403 TTN |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP34 |
DEMO_ID34 |
HGNC:7577 MYH7 |
ORPHA:607 Nemaline myopathy |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP35 |
DEMO_ID35 |
HGNC:129 ACTA1 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP36 |
DEMO_ID36 |
HGNC:7720 NEB |
ORPHA:607 Nemaline myopathy |
ORPHA:607 Nemaline myopathy |
1.0
|
Resume
|
| DEMO_BIOP37 |
DEMO_ID37 |
|
UNCLEAR |
ORPHA:595 Centronuclear myopathy |
1.0
|
Resume
|
| DEMO_BIOP38 |
DEMO_ID38 |
HGNC:7577 MYH7 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP39 |
DEMO_ID39 |
HGNC:7577 MYH7 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|
| DEMO_BIOP40 |
DEMO_ID40 |
HGNC:7577 MYH7 |
ORPHA:172976 Congenital myopathy with cores |
ORPHA:172976 Congenital myopathy with cores |
1.0
|
Resume
|