| Gene Symbol | OMIM | Phenotype | Mutation | rsID | Chromosome | Position | Ref | Alt | Info |
|---|---|---|---|---|---|---|---|---|---|
| GNAS | 139320 | PSEUDOPSEUDOHYPOPARATHYROIDISM | GNAS, ARG258ALA | rs137854536 | 20 | 58909736 | CCG | CGC,CCCG,CCGC | dbSNP_138;TSA=substitution;CLIN_pathogenic |
| GNAS | 139320 | PSEUDOPSEUDOHYPOPARATHYROIDISM | GNAS, ARG258TRP | rs137854535 | 20 | 58909737 | C | T | dbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C |
