| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| GJA8 | 600897 | CATARACT 1, MULTIPLE TYPES | GJA8, ASP47ASN | rs121434643 | 1 | 147908094 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |
| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| GJA8 | 600897 | CATARACT 1, MULTIPLE TYPES | GJA8, ASP47ASN | rs121434643 | 1 | 147908094 | G | A | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G |