Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_009436 | Disease | p.ALA614ASP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005666 | Disease | p.ALA1712GLU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_018601 | Polymorphism | p.ALA1429SER | N/A |
Swiss-Prot | VAR_009433 | Polymorphism | p.ALA583THR | N/A |
Swiss-Prot | VAR_005649 | Polymorphism | p.ALA607THR | N/A |
Swiss-Prot | VAR_057014 | Polymorphism | p.ALA1141VAL | N/A |
Swiss-Prot | VAR_008024 | Polymorphism | p.ALA536VAL | N/A |
Swiss-Prot | VAR_018600 | Polymorphism | p.ALA862VAL | N/A |
Swiss-Prot | VAR_008031 | Disease | p.ARG1743GLN | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009428 | Polymorphism | p.ARG367GLN | N/A |
Swiss-Prot | VAR_005650 | Disease | p.ARG611GLN | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005653 | Disease | p.ARG905GLN | Tuberous sclerosis 2 (TSC2) |
dbSNP | rs45517323 | Disease | p.ARG1329HIS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009454 | Disease | p.ARG1743PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009418 | Disease | p.ARG261PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005656 | Disease | p.ARG1200TRP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005658 | Disease | p.ARG1240TRP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009419 | Polymorphism | p.ARG261TRP | N/A |
Swiss-Prot | VAR_005651 | Disease | p.ARG611TRP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005654 | Disease | p.ARG905TRP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005663 | Disease | p.ASN1643ILE | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008022 | Disease | p.ASN486ILE | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009449 | Disease | p.ASN1643LYS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009452 | Disease | p.ASN1681LYS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008021 | Disease | p.ASN331LYS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009450 | Disease | p.ASN1651SER | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009432 | Disease | p.ASN525SER | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_022921 | Polymorphism | p.ASP1636ASN | N/A |
Swiss-Prot | VAR_009437 | Polymorphism | p.ASP647ASN | N/A |
Swiss-Prot | VAR_005655 | Disease | p.ASP1084GLU | Tuberous sclerosis 2 (TSC2) |
dbSNP | rs1748 | Polymorphism | p.ASP1734GLU | N/A |
Swiss-Prot | VAR_005665 | Disease | p.ASP1690TYR | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005659 | Disease | p.ASP1295VAL | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008020 | Disease | p.CYS227TYR | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009439 | Disease | p.CYS696TYR | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008033 | Disease | p.GLU1783GLN | Tuberous sclerosis 2 (TSC2) |
dbSNP | rs62642481 | Polymorphism | p.GLU1307LYS | N/A |
Swiss-Prot | VAR_009422 | Disease | p.GLY294GLU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009457 | Polymorphism | p.GLY1787SER | N/A |
Swiss-Prot | VAR_009458 | Polymorphism | p.GLY1791SER | N/A |
Swiss-Prot | VAR_009430 | Polymorphism | p.GLY440SER | N/A |
Swiss-Prot | VAR_009415 | Polymorphism | p.HIS137ARG | N/A |
Swiss-Prot | VAR_009434 | Polymorphism | p.HIS593ARG | N/A |
Swiss-Prot | VAR_008032 | Disease | p.HIS1773PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009448 | Disease | p.HIS1620TYR | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009431 | Polymorphism | p.ILE463VAL | N/A |
Swiss-Prot | VAR_008023 | Polymorphism | p.ILE490VAL | N/A |
Swiss-Prot | VAR_009440 | Disease | p.LEU717ARG | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009424 | Polymorphism | p.LEU309GLN | N/A |
Swiss-Prot | VAR_009447 | Polymorphism | p.LEU1594MET | N/A |
Swiss-Prot | VAR_005652 | Disease | p.LEU826MET | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005667 | Disease | p.LEU1750PHE | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009425 | Polymorphism | p.LEU320PHE | N/A |
Swiss-Prot | VAR_060584 | Polymorphism | p.LEU619PHE | N/A |
Swiss-Prot | VAR_022919 | Disease | p.LEU1027PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009455 | Disease | p.LEU1744PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005646 | Disease | p.LEU292PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009426 | Disease | p.LEU361PRO | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009416 | Polymorphism | p.LEU160VAL | N/A |
Swiss-Prot | VAR_009417 | Disease | p.LYS258ASN | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009435 | Disease | p.LYS599MET | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005648 | Disease | p.MET449ILE | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009420 | Polymorphism | p.MET286THR | N/A |
dbSNP | rs1800748 | Polymorphism | p.MET286VAL | N/A |
Swiss-Prot | VAR_009442 | Disease | p.MET895VAL | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008025 | Polymorphism | p.PHE615SER | N/A |
Swiss-Prot | VAR_018602 | Polymorphism | p.PRO1450ARG | N/A |
Swiss-Prot | VAR_009445 | Disease | p.PRO1497ARG | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005657 | Disease | p.PRO1227LEU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009451 | Disease | p.PRO1675LEU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008030 | Disease | p.PRO1709LEU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009429 | Polymorphism | p.PRO378LEU | N/A |
Swiss-Prot | VAR_008026 | Disease | p.PRO816LEU | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008028 | Disease | p.PRO1315SER | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_008019 | Polymorphism | p.PRO94THR | N/A |
Swiss-Prot | VAR_022920 | Polymorphism | p.SER1341ARG | N/A |
Swiss-Prot | VAR_060585 | Polymorphism | p.SER802ARG | N/A |
Swiss-Prot | VAR_009446 | Disease | p.SER1498ASN | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009444 | Polymorphism | p.SER1282GLY | N/A |
Swiss-Prot | VAR_018603 | Disease | p.SER1653PHE | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009453 | Disease | p.SER1704THR | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_057015 | Polymorphism | p.SER1774THR | N/A |
Swiss-Prot | VAR_005647 | Disease | p.TYR407ASP | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005661 | Disease | p.TYR1549CYS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_005664 | Disease | p.TYR1650CYS | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009441 | Polymorphism | p.VAL769GLU | N/A |
Swiss-Prot | VAR_022922 | Polymorphism | p.VAL1673LEU | N/A |
Swiss-Prot | VAR_008027 | Disease | p.VAL1144MET | Tuberous sclerosis 2 (TSC2) |
Swiss-Prot | VAR_009443 | Polymorphism | p.VAL963MET | N/A |
OMIM | 191092.0006 | Disease | p.ARG611GLN | TUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED |
OMIM | 191092.0013 | Disease | p.ARG905GLN | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0015 | Disease | p.ARG905GLY | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0005 | Disease | p.ARG505TER | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0014 | Disease | p.ARG905TRP | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0011 | Disease | p.GLN1503PRO | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0008 | Disease | p.GLN478TER | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0010 | Disease | p.GLU366TER | LYMPHANGIOLEIOMYOMATOSIS, SOMATIC |
OMIM | 191092.0007 | Disease | p.LEU717ARG | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0003 | Disease | p.LYS12TER | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0009 | Disease | p.PRO1675LEU | TUBEROUS SCLEROSIS 2 |
OMIM | 191092.0017 | Disease | p.TRP441TER | TUBEROUS SCLEROSIS 2 |