Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_011049 | Disease | p.ALA2752ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058813 | Polymorphism | p.ALA3954PRO | N/A |
Swiss-Prot | VAR_064382 | Disease | p.ALA442PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058777 | Polymorphism | p.ALA1516THR | N/A |
Swiss-Prot | VAR_058782 | Polymorphism | p.ALA1871THR | N/A |
Swiss-Prot | VAR_058783 | Polymorphism | p.ALA1926VAL | N/A |
Swiss-Prot | VAR_011066 | Polymorphism | p.ALA3512VAL | N/A |
Swiss-Prot | VAR_010095 | Polymorphism | p.ALA4059VAL | N/A |
Swiss-Prot | VAR_012452 | Polymorphism | p.ALA88VAL | N/A |
Swiss-Prot | VAR_058789 | Disease | p.ARG2200CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011042 | Disease | p.ARG2408CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011051 | Polymorphism | p.ARG2765CYS | N/A |
Swiss-Prot | VAR_068028 | Disease | p.ARG2767CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012468 | Disease | p.ARG3039CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068031 | Disease | p.ARG4150CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010097 | Disease | p.ARG4154CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056701 | Polymorphism | p.ARG2515GLN | N/A |
Swiss-Prot | VAR_005537 | Polymorphism | p.ARG2791GLN | N/A |
Swiss-Prot | VAR_058807 | Polymorphism | p.ARG3435GLN | N/A |
Swiss-Prot | VAR_011067 | Disease | p.ARG3719GLN | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064393 | Disease | p.ARG3750GLN | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058771 | Polymorphism | p.ARG739GLN | N/A |
Swiss-Prot | VAR_011058 | Polymorphism | p.ARG2888GLY | N/A |
Swiss-Prot | VAR_012467 | Disease | p.ARG2985GLY | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010096 | Disease | p.ARG4136GLY | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011036 | Polymorphism | p.ARG1995HIS | N/A |
Swiss-Prot | VAR_013838 | Disease | p.ARG3247HIS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010085 | Disease | p.ARG324LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056699 | Polymorphism | p.ARG1557PRO | N/A |
Swiss-Prot | VAR_012454 | Disease | p.ARG2392PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_014918 | Polymorphism | p.ARG2746PRO | N/A |
Swiss-Prot | VAR_058795 | Polymorphism | p.ARG2761PRO | N/A |
Swiss-Prot | VAR_058776 | Disease | p.ARG1340TRP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011039 | Polymorphism | p.ARG2329TRP | N/A |
Swiss-Prot | VAR_064386 | Disease | p.ARG2434TRP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011068 | Disease | p.ARG3753TRP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010100 | Disease | p.ARG4276TRP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068025 | Disease | p.ARG611TRP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011044 | Polymorphism | p.ASP2604ASN | N/A |
Swiss-Prot | VAR_012465 | Polymorphism | p.ASP2972ASN | N/A |
Swiss-Prot | VAR_011069 | Disease | p.ASP3815ASN | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064380 | Disease | p.ASP97GLY | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058791 | Disease | p.CYS2370ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064381 | Disease | p.CYS436ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058766 | Disease | p.CYS508ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058764 | Disease | p.CYS210GLY | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058792 | Disease | p.CYS2373TYR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058763 | Disease | p.GLN164ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010090 | Disease | p.GLN3016ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058812 | Disease | p.GLN3751ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056703 | Polymorphism | p.GLN3005GLU | N/A |
Swiss-Prot | VAR_058772 | Disease | p.GLN987HIS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012457 | Polymorphism | p.GLN2519LEU | N/A |
Swiss-Prot | VAR_011048 | Polymorphism | p.GLN2735LEU | N/A |
Swiss-Prot | VAR_010099 | Disease | p.GLN4225PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011061 | Polymorphism | p.GLU2966ASP | N/A |
Swiss-Prot | VAR_005542 | Disease | p.GLU3632ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012458 | Polymorphism | p.GLU2548GLN | N/A |
Swiss-Prot | VAR_058781 | Disease | p.GLU1811LYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011053 | Disease | p.GLU2771LYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011055 | Polymorphism | p.GLY2814ARG | N/A |
Swiss-Prot | VAR_012471 | Disease | p.GLY3560ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058785 | Polymorphism | p.GLY1952ASP | N/A |
Swiss-Prot | VAR_064385 | Disease | p.GLY2391ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058796 | Disease | p.GLY2785ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005545 | Disease | p.GLY4032ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058765 | Disease | p.GLY381CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058814 | Polymorphism | p.GLY4102GLU | N/A |
Swiss-Prot | VAR_011033 | Disease | p.GLY1166SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011057 | Disease | p.GLY2858SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058808 | Disease | p.GLY3602SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068030 | Disease | p.GLY3651SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011064 | Polymorphism | p.GLY3139VAL | N/A |
Swiss-Prot | VAR_012462 | Disease | p.HIS2638ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012470 | Polymorphism | p.HIS3311ARG | N/A |
Swiss-Prot | VAR_011060 | Disease | p.HIS2921PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064387 | Disease | p.HIS2546TYR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058804 | Disease | p.ILE3167PHE | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064389 | Disease | p.ILE2646THR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005538 | Disease | p.ILE2826THR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005546 | Polymorphism | p.ILE4045VAL | N/A |
Swiss-Prot | VAR_056698 | Polymorphism | p.LEU1114ARG | N/A |
Swiss-Prot | VAR_012464 | Disease | p.LEU2696ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068029 | Disease | p.LEU2995ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064384 | Disease | p.LEU727ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011030 | Disease | p.LEU13GLN | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058761 | Polymorphism | p.LEU87MET | N/A |
Swiss-Prot | VAR_011056 | Disease | p.LEU2816PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010089 | Disease | p.LEU2993PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_064391 | Disease | p.LEU3154PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058810 | Disease | p.LEU3682PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011070 | Disease | p.LEU3852PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058815 | Polymorphism | p.LEU4106PRO | N/A |
Swiss-Prot | VAR_064383 | Disease | p.LEU727PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056696 | Polymorphism | p.LEU950PRO | N/A |
Swiss-Prot | VAR_010086 | Disease | p.LEU845SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005535 | Disease | p.LEU2763VAL | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010092 | Polymorphism | p.LEU3511VAL | N/A |
Swiss-Prot | VAR_056697 | Disease | p.MET1092THR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005533 | Polymorphism | p.MET2760THR | N/A |
Swiss-Prot | VAR_005536 | Polymorphism | p.MET2764THR | N/A |
Swiss-Prot | VAR_005543 | Disease | p.MET3678THR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056704 | Polymorphism | p.MET3023VAL | N/A |
Swiss-Prot | VAR_011063 | Disease | p.PHE3066LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058768 | Disease | p.PHE594TYR | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058818 | Disease | p.PHE4155VAL | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058770 | Polymorphism | p.PRO738ARG | N/A |
Swiss-Prot | VAR_058759 | Polymorphism | p.PRO36HIS | N/A |
Swiss-Prot | VAR_010088 | Polymorphism | p.PRO1786LEU | N/A |
Swiss-Prot | VAR_012456 | Disease | p.PRO2471LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058797 | Disease | p.PRO2802LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011065 | Polymorphism | p.PRO3193LEU | N/A |
Swiss-Prot | VAR_058806 | Disease | p.PRO3355LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058809 | Disease | p.PRO3649LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058760 | Polymorphism | p.PRO61LEU | N/A |
Swiss-Prot | VAR_058773 | Polymorphism | p.PRO1168SER | N/A |
Swiss-Prot | VAR_011045 | Polymorphism | p.PRO2674SER | N/A |
Swiss-Prot | VAR_058816 | Polymorphism | p.PRO4124SER | N/A |
Swiss-Prot | VAR_058819 | Disease | p.PRO4255SER | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058767 | Polymorphism | p.PRO572SER | N/A |
Swiss-Prot | VAR_011047 | Polymorphism | p.PRO2734THR | N/A |
Swiss-Prot | VAR_064390 | Disease | p.SER2889ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010093 | Polymorphism | p.SER3562ASN | N/A |
Swiss-Prot | VAR_064388 | Disease | p.SER2569CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_056702 | Polymorphism | p.SER2534GLY | N/A |
Swiss-Prot | VAR_058762 | Polymorphism | p.SER99ILE | N/A |
Swiss-Prot | VAR_058780 | Polymorphism | p.SER1684LEU | N/A |
Swiss-Prot | VAR_058798 | Polymorphism | p.SER2958LEU | N/A |
Swiss-Prot | VAR_012455 | Disease | p.SER2423PHE | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010098 | Polymorphism | p.SER4190PHE | N/A |
Swiss-Prot | VAR_011031 | Disease | p.SER75PHE | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058799 | Polymorphism | p.THR2977ASN | N/A |
Swiss-Prot | VAR_058786 | Disease | p.THR2083ILE | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012463 | Polymorphism | p.THR2649ILE | N/A |
Swiss-Prot | VAR_056700 | Polymorphism | p.THR1734LYS | N/A |
Swiss-Prot | VAR_058794 | Disease | p.THR2422LYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058775 | Polymorphism | p.THR1242MET | N/A |
Swiss-Prot | VAR_058778 | Polymorphism | p.THR1649MET | N/A |
Swiss-Prot | VAR_011038 | Polymorphism | p.THR2250MET | N/A |
Swiss-Prot | VAR_012460 | Polymorphism | p.THR2582MET | N/A |
Swiss-Prot | VAR_011046 | Polymorphism | p.THR2708MET | N/A |
Swiss-Prot | VAR_013839 | Disease | p.THR3382MET | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010091 | Disease | p.THR3510MET | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058779 | Disease | p.THR1667PRO | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_010087 | Polymorphism | p.TRP1399ARG | N/A |
Swiss-Prot | VAR_064392 | Disease | p.TRP3603ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_012453 | Disease | p.TRP967ARG | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011032 | Disease | p.TRP139CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058811 | Polymorphism | p.TRP3726SER | N/A |
Swiss-Prot | VAR_058788 | Disease | p.TYR2185ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011040 | Disease | p.TYR2336ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068026 | Disease | p.TYR698ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058787 | Disease | p.TYR2092CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011041 | Disease | p.TYR2379CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068024 | Disease | p.TYR325CYS | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_005547 | Polymorphism | p.VAL4058ALA | N/A |
Swiss-Prot | VAR_058769 | Disease | p.VAL690ASP | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011034 | Disease | p.VAL1956GLU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_068027 | Disease | p.VAL1206GLY | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058784 | Polymorphism | p.VAL1943ILE | N/A |
Swiss-Prot | VAR_011059 | Polymorphism | p.VAL2905ILE | N/A |
Swiss-Prot | VAR_012469 | Disease | p.VAL3285ILE | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_058817 | Polymorphism | p.VAL4146ILE | N/A |
Swiss-Prot | VAR_005539 | Disease | p.VAL3008LEU | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011052 | Disease | p.VAL2768MET | Polycystic kidney disease 1 (PKD1) |
Swiss-Prot | VAR_011054 | Polymorphism | p.VAL2782MET | N/A |
Swiss-Prot | VAR_058800 | Polymorphism | p.VAL3008MET | N/A |
Swiss-Prot | VAR_058802 | Polymorphism | p.VAL3057MET | N/A |
Swiss-Prot | VAR_058803 | Polymorphism | p.VAL3138MET | N/A |
Swiss-Prot | VAR_005541 | Disease | p.VAL3375MET | Polycystic kidney disease 1 (PKD1) |