| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| LDB3 | 605906 | MYOPATHY, MYOFIBRILLAR, 4 | LDB3, ALA147THR | rs121908333 | 10 | 86687163 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
| LDB3 | 605906 | MYOPATHY, MYOFIBRILLAR, 4 | LDB3, ALA165VAL | rs121908334 | 10 | 86687218 | C | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C |
| LDB3 | 605906 | MYOPATHY, MYOFIBRILLAR, 4 | LDB3, ARG268CYS | rs121908335 | 10 | 86699324 | C | T | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C |
