Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_043791 | Polymorphism | p.ALA870GLY | N/A |
Swiss-Prot | VAR_068706 | Polymorphism | p.ALA328PRO | N/A |
Swiss-Prot | VAR_012944 | Disease | p.ALA636PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054511 | Disease | p.ALA2THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004476 | Disease | p.ALA305THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004488 | Disease | p.ALA834THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043756 | Polymorphism | p.ALA272VAL | N/A |
Swiss-Prot | VAR_043741 | Disease | p.ALA45VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043771 | Disease | p.ALA600VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043780 | Polymorphism | p.ALA714VAL | N/A |
Swiss-Prot | VAR_054517 | Polymorphism | p.ARG638GLY | N/A |
Swiss-Prot | VAR_004471 | Polymorphism | p.ARG96HIS | N/A |
Swiss-Prot | VAR_038026 | Polymorphism | p.ARG106LYS | N/A |
Swiss-Prot | VAR_004479 | Disease | p.ARG524PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043764 | Disease | p.ARG359SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054514 | Polymorphism | p.ASN331ASP | N/A |
Swiss-Prot | VAR_038030 | Polymorphism | p.ASN835HIS | N/A |
dbSNP | rs17217772 | Disease | p.ASN127SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004472 | Disease | p.ASN139SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043770 | Disease | p.ASN583SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_012943 | Polymorphism | p.ASN596SER | N/A |
Swiss-Prot | VAR_043778 | Polymorphism | p.ASN671TYR | N/A |
Swiss-Prot | VAR_043772 | Disease | p.ASP603ASN | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_068708 | Polymorphism | p.ASP487GLU | N/A |
Swiss-Prot | VAR_022671 | Disease | p.ASP660GLY | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004474 | Disease | p.ASP167HIS | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043757 | Disease | p.ASP283TYR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_012941 | Polymorphism | p.ASP506TYR | N/A |
Swiss-Prot | VAR_054520 | Polymorphism | p.ASP748TYR | N/A |
Swiss-Prot | VAR_012937 | Polymorphism | p.CYS199ARG | N/A |
Swiss-Prot | VAR_009251 | Disease | p.CYS697ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004484 | Polymorphism | p.CYS641GLY | N/A |
Swiss-Prot | VAR_067292 | Polymorphism | p.CYS843GLY | N/A |
Swiss-Prot | VAR_043792 | Polymorphism | p.CYS873GLY | N/A |
Swiss-Prot | VAR_004486 | Disease | p.CYS697PHE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043759 | Disease | p.CYS333TYR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043774 | Polymorphism | p.GLN629ARG | N/A |
Swiss-Prot | VAR_054518 | Polymorphism | p.GLN645GLU | N/A |
Swiss-Prot | VAR_043787 | Polymorphism | p.GLN824GLU | N/A |
Swiss-Prot | VAR_012940 | Polymorphism | p.GLN419LYS | N/A |
Swiss-Prot | VAR_043789 | Polymorphism | p.GLU853ALA | N/A |
Swiss-Prot | VAR_068705 | Polymorphism | p.GLU205GLN | N/A |
Swiss-Prot | VAR_054513 | Disease | p.GLU198GLY | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043793 | Disease | p.GLU886GLY | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_067285 | Polymorphism | p.GLU177HIS | N/A |
Swiss-Prot | VAR_043776 | Disease | p.GLU647LYS | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043785 | Disease | p.GLU749LYS | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004480 | Disease | p.GLU562VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054512 | Disease | p.GLY162ALA | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043747 | Disease | p.GLY162ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043749 | Disease | p.GLY164ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043754 | Polymorphism | p.GLY203ARG | N/A |
Swiss-Prot | VAR_067761 | Disease | p.GLY669ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_067288 | Disease | p.GLY674ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_009250 | Disease | p.GLY692ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004477 | Polymorphism | p.GLY322ASP | N/A |
Swiss-Prot | VAR_067290 | Polymorphism | p.GLY759GLU | N/A |
Swiss-Prot | VAR_043739 | Polymorphism | p.GLY40SER | N/A |
Swiss-Prot | VAR_004485 | Disease | p.GLY674SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043775 | Disease | p.HIS639ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043788 | Disease | p.HIS839ARG | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054516 | Polymorphism | p.HIS610ASN | N/A |
Swiss-Prot | VAR_004470 | Disease | p.HIS46GLN | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054521 | Polymorphism | p.HIS839GLN | N/A |
Swiss-Prot | VAR_004483 | Disease | p.HIS639TYR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_004473 | Disease | p.ILE145MET | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043779 | Disease | p.ILE679THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043750 | Polymorphism | p.ILE169VAL | N/A |
Swiss-Prot | VAR_012938 | Polymorphism | p.ILE216VAL | N/A |
Swiss-Prot | VAR_004487 | Polymorphism | p.ILE770VAL | N/A |
Swiss-Prot | VAR_038031 | Polymorphism | p.LEU911ARG | N/A |
Swiss-Prot | VAR_004478 | Polymorphism | p.LEU390PHE | N/A |
Swiss-Prot | VAR_043743 | Disease | p.LEU93PHE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043751 | Disease | p.LEU173PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043752 | Disease | p.LEU175PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043753 | Disease | p.LEU187PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_067291 | Polymorphism | p.LEU805VAL | N/A |
Swiss-Prot | VAR_067289 | Polymorphism | p.LYS675ALA | N/A |
Swiss-Prot | VAR_043755 | Polymorphism | p.LYS246GLN | N/A |
Swiss-Prot | VAR_013172 | Disease | p.LYS845GLU | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_068709 | Polymorphism | p.LYS909ILE | N/A |
Swiss-Prot | VAR_043765 | Disease | p.LYS393MET | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043746 | Disease | p.LYS110THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043795 | Disease | p.LYS931THR | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_012945 | Disease | p.MET688ILE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_038028 | Polymorphism | p.MET779ILE | N/A |
Swiss-Prot | VAR_043767 | Disease | p.MET492VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043782 | Disease | p.MET729VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043786 | Disease | p.MET813VAL | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_067287 | Polymorphism | p.PHE519LEU | N/A |
Swiss-Prot | VAR_043790 | Polymorphism | p.PRO868ALA | N/A |
Swiss-Prot | VAR_043763 | Disease | p.PRO349LEU | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_067286 | Polymorphism | p.PRO385LEU | N/A |
Swiss-Prot | VAR_004482 | Disease | p.PRO622LEU | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_038027 | Polymorphism | p.PRO670LEU | N/A |
Swiss-Prot | VAR_054519 | Polymorphism | p.PRO696LEU | N/A |
Swiss-Prot | VAR_043761 | Disease | p.PRO336SER | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_012942 | Polymorphism | p.SER554ARG | N/A |
Swiss-Prot | VAR_012939 | Polymorphism | p.SER323CYS | N/A |
Swiss-Prot | VAR_043736 | Polymorphism | p.SER13ILE | N/A |
Swiss-Prot | VAR_067293 | Polymorphism | p.SER860LEU | N/A |
Swiss-Prot | VAR_043781 | Disease | p.SER723PHE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043758 | Polymorphism | p.SER323TYR | N/A |
Swiss-Prot | VAR_043769 | Polymorphism | p.THR564ALA | N/A |
Swiss-Prot | VAR_004489 | Polymorphism | p.THR905ARG | N/A |
Swiss-Prot | VAR_043760 | Polymorphism | p.THR335ILE | N/A |
Swiss-Prot | VAR_043783 | Disease | p.THR732ILE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043740 | Disease | p.THR44MET | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
dbSNP | rs17217716 | Polymorphism | p.THR8MET | N/A |
Swiss-Prot | VAR_043738 | Disease | p.THR33PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043768 | Disease | p.THR552PRO | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_038029 | Polymorphism | p.THR807SER | N/A |
Swiss-Prot | VAR_067284 | Polymorphism | p.TYR165ASP | N/A |
Swiss-Prot | VAR_019233 | Polymorphism | p.TYR43CYS | N/A |
Swiss-Prot | VAR_043773 | Polymorphism | p.TYR619CYS | N/A |
Swiss-Prot | VAR_043744 | Polymorphism | p.TYR98CYS | N/A |
Swiss-Prot | VAR_043777 | Disease | p.TYR656HIS | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_012936 | Disease | p.VAL161ASP | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043748 | Disease | p.VAL163ASP | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_054515 | Polymorphism | p.VAL470GLU | N/A |
Swiss-Prot | VAR_043794 | Polymorphism | p.VAL923GLU | N/A |
Swiss-Prot | VAR_022670 | Disease | p.VAL163GLY | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043745 | Disease | p.VAL102ILE | Hereditary non-polyposis colorectal cancer 1 (HNPCC1) |
Swiss-Prot | VAR_043762 | Polymorphism | p.VAL342ILE | N/A |
Swiss-Prot | VAR_068707 | Polymorphism | p.VAL367ILE | N/A |
Swiss-Prot | VAR_043737 | Polymorphism | p.VAL17PHE | N/A |
OMIM | 609309.0012 | Disease | p.ALA636PRO | COLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1 |
OMIM | 609309.0007 | Disease | p.ARG524PRO | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 |
OMIM | 609309.0003 | Disease | p.ARG406TER | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 |
OMIM | 609309.0006 | Disease | p.GLN601TER | MUIR-TORRE SYNDROME |
OMIM | 609309.0004 | Disease | p.HIS639TYR | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 |
OMIM | 609309.0001 | Disease | p.PRO622LEU | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 |