Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, GLN1273TERrs199476094162090688GAdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, ARG4227TERrs199476095162089957GAdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, GLN3837TERrs199476096162091806GAdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, CYS4086TERrs199476097162090468ATdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, TYR3818TERrs199476098162091861GTdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, ARG324LEUrs199476099162118021CAdbSNP_138;TSA=SNV;E_Multiple_observations;E_ESP;CLIN_pathogenic;AA=C
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, LEU845SERrs199476100162114489AGdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A
PKD1601313POLYCYSTIC KIDNEY DISEASE 1PKD1, GLN1922TERrs199476101162109403GAdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G