PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, GLN1273TER | rs199476094 | 16 | 2090688 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, ARG4227TER | rs199476095 | 16 | 2089957 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, GLN3837TER | rs199476096 | 16 | 2091806 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, CYS4086TER | rs199476097 | 16 | 2090468 | A | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, TYR3818TER | rs199476098 | 16 | 2091861 | G | T | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, ARG324LEU | rs199476099 | 16 | 2118021 | C | A | dbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, LEU845SER | rs199476100 | 16 | 2114489 | A | G | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A |
PKD1 | 601313 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1, GLN1922TER | rs199476101 | 16 | 2109403 | G | A | dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G |