| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| CRYM | 123740 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC | CRYM, TER315TYR | rs104894509 | 16 | 21258781 | T | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T |
| CRYM | 123740 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC | CRYM, LYS314THR | rs104894512 | 16 | 21258785 | T | G | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=T |
