Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_007559 | Disease | p.ALA65ASP | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007588 | Disease | p.ALA117GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007557 | Disease | p.ALA56PRO | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007587 | Disease | p.ALA111SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038982 | Disease | p.ALA117SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038986 | Disease | p.ALA140SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038972 | Disease | p.ALA65SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007593 | Disease | p.ALA129THR | Hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) |
Swiss-Prot | VAR_007560 | Disease | p.ALA65THR | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007591 | Polymorphism | p.ARG124CYS | N/A |
Swiss-Prot | VAR_038983 | Polymorphism | p.ARG124HIS | N/A |
Swiss-Prot | VAR_038965 | Disease | p.ARG54THR | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038988 | Disease | p.ASN144SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038967 | Disease | p.ASP58ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007548 | Disease | p.ASP38GLU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007549 | Disease | p.ASP38GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007581 | Polymorphism | p.ASP94HIS | N/A |
Swiss-Prot | VAR_038968 | Disease | p.ASP58VAL | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007547 | Disease | p.CYS30ARG | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038970 | Disease | p.GLU62ASP | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007585 | Disease | p.GLU109GLN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007558 | Disease | p.GLU62GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007568 | Disease | p.GLU74GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038978 | Disease | p.GLU81GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_010659 | Disease | p.GLU109LYS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038976 | Disease | p.GLU74LYS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007574 | Disease | p.GLU81LYS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007561 | Disease | p.GLY67ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007562 | Disease | p.GLY67ARG | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038973 | Disease | p.GLY67GLU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038975 | Disease | p.GLY73GLU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007589 | Polymorphism | p.GLY121SER | N/A |
dbSNP | rs1800458 | Polymorphism | p.GLY26SER | N/A |
Swiss-Prot | VAR_007563 | Disease | p.GLY67VAL | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007586 | Polymorphism | p.HIS110ASN | N/A |
Swiss-Prot | VAR_007583 | Disease | p.ILE104ASN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007576 | Disease | p.ILE88LEU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038985 | Disease | p.ILE127MET | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007584 | Disease | p.ILE104SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038980 | Disease | p.ILE104THR | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007592 | Disease | p.ILE127VAL | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007580 | Disease | p.ILE93VAL | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007571 | Disease | p.LEU78ARG | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038977 | Disease | p.LEU75GLN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007570 | Disease | p.LEU78HIS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007594 | Disease | p.LEU131MET | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038959 | Disease | p.LEU32PRO | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007569 | Disease | p.LEU75PRO | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038966 | Disease | p.LYS55ASN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007578 | Disease | p.LYS90ASN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038960 | Polymorphism | p.MET33ILE | N/A |
Swiss-Prot | VAR_038963 | Polymorphism | p.PHE53CYS | N/A |
Swiss-Prot | VAR_007555 | Disease | p.PHE53ILE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007556 | Disease | p.PHE53LEU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007575 | Disease | p.PHE84LEU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038971 | Disease | p.PHE64SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038964 | Disease | p.PHE53VAL | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007590 | Polymorphism | p.PRO122ARG | N/A |
Swiss-Prot | VAR_007551 | Disease | p.PRO44SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007566 | Disease | p.SER70ARG | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038961 | Disease | p.SER43ASN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007565 | Disease | p.SER70ILE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007567 | Disease | p.SER72PRO | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007582 | Disease | p.SER97TYR | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007564 | Disease | p.THR69ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007573 | Disease | p.THR80ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038984 | Disease | p.THR126ASN | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038974 | Disease | p.THR69ILE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007572 | Disease | p.THR79LYS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007599 | Polymorphism | p.THR139MET | N/A |
Swiss-Prot | VAR_038969 | Disease | p.TRP61LEU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007595 | Disease | p.TYR134CYS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007598 | Disease | p.TYR134HIS | Carpal tunnel syndrome 1 (CTS1) |
Swiss-Prot | VAR_007577 | Disease | p.TYR89HIS | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038979 | Disease | p.TYR98PHE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007596 | Disease | p.TYR136SER | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007597 | Polymorphism | p.TYR136VAL | N/A |
Swiss-Prot | VAR_038981 | Polymorphism | p.VAL114ALA | N/A |
Swiss-Prot | VAR_038987 | Disease | p.VAL142ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007552 | Disease | p.VAL50ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007579 | Disease | p.VAL91ALA | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_038962 | Disease | p.VAL50GLY | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007600 | Disease | p.VAL142ILE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007550 | Disease | p.VAL40ILE | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007553 | Disease | p.VAL50LEU | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_010658 | Disease | p.VAL48MET | Amyloidosis, transthyretin-related (AMYL-TTR) |
Swiss-Prot | VAR_007554 | Disease | p.VAL50MET | Amyloidosis, transthyretin-related (AMYL-TTR) |
OMIM | 176300.0032 | Disease | p.ALA97GLY | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0016 | Disease | p.ALA36PRO | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0052 | Disease | p.ALA97SER | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0015 | Disease | p.ALA109THR | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA |
OMIM | 176300.0051 | Disease | p.ALA25THR | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0021 | Disease | p.ALA45THR | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0038 | Disease | p.ALA109VAL | DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA |
OMIM | 176300.0042 | Disease | p.ARG104HIS | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0047 | Disease | p.ASP18GLY | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0028 | Disease | p.CYS10ARG | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0026 | Disease | p.GLU89GLN | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0012 | Disease | p.GLU42GLY | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0031 | Disease | p.GLU61LYS | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0035 | Disease | p.GLY47ALA | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0046 | Disease | p.GLY53GLU | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0010 | Disease | p.HIS90ASN | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0030 | Disease | p.ILE68LEU | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0006 | Disease | p.ILE84SER | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0034 | Disease | p.ILE107VAL | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0019 | Disease | p.LEU58ARG | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0003 | Disease | p.LEU58HIS | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0007 | Disease | p.LEU111MET | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0041 | Disease | p.LEU12PRO | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0022 | Disease | p.LEU55PRO | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0027 | Disease | p.LYS70ASN | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0002 | Disease | p.PHE33ILE | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0040 | Disease | p.PHE33LEU | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0037 | Disease | p.PHE64LEU | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0045 | Disease | p.PHE44SER | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0048 | Disease | p.PHE64SER | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0013 | Disease | p.SER50ARG | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0023 | Disease | p.SER50ILE | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0005 | Disease | p.SER77TYR | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0025 | Disease | p.THR49ALA | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0004 | Disease | p.THR60ALA | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0018 | Disease | p.THR119MET | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF |
OMIM | 176300.0011 | Disease | p.TYR114CYS | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0033 | Disease | p.TYR114HIS | CARPAL TUNNEL SYNDROME, FAMILIAL |
OMIM | 176300.0050 | Disease | p.TYR69HIS | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0014 | Disease | p.VAL30ALA | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0029 | Disease | p.VAL71ALA | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0049 | Disease | p.VAL30GLY | AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED |
OMIM | 176300.0009 | Disease | p.VAL122ILE | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0039 | Disease | p.VAL20ILE | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0024 | Disease | p.VAL30LEU | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |
OMIM | 176300.0001 | Disease | p.VAL30MET | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED |