Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_001538 | Disease | p.ALA341GLU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068310 | Disease | p.ALA344GLU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001518 | Disease | p.ALA178PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009922 | Disease | p.ALA194PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009920 | Disease | p.ALA178THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001526 | Disease | p.ALA300THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001544 | Disease | p.ALA371THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009181 | Disease | p.ALA525THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068322 | Disease | p.ALA590THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068303 | Disease | p.ALA302VAL | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001539 | Disease | p.ALA341VAL | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001541 | Disease | p.ALA344VAL | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001517 | Disease | p.ARG174CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_010933 | Disease | p.ARG243CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068295 | Disease | p.ARG259CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068302 | Disease | p.ARG293CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001545 | Disease | p.ARG555CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009933 | Disease | p.ARG583CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001520 | Disease | p.ARG190GLN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009929 | Disease | p.ARG366GLN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009934 | Disease | p.ARG594GLN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008939 | Disease | p.ARG174HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008941 | Disease | p.ARG243HIS | Jervell and Lange-Nielsen syndrome 1 (JLNS1) |
Swiss-Prot | VAR_068318 | Disease | p.ARG555HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008953 | Disease | p.ARG591HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068296 | Disease | p.ARG259LEU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001543 | Disease | p.ARG366PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068312 | Disease | p.ARG380SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008948 | Disease | p.ARG366TRP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068314 | Disease | p.ARG452TRP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008949 | Disease | p.ARG533TRP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008950 | Disease | p.ARG539TRP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008940 | Disease | p.ASP242ASN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001534 | Disease | p.ASP317ASN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068291 | Disease | p.CYS136PHE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068289 | Disease | p.CYS122TYR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008944 | Disease | p.GLU261ASP | Jervell and Lange-Nielsen syndrome 1 (JLNS1) |
Swiss-Prot | VAR_068288 | Disease | p.GLU115GLY | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009919 | Disease | p.GLU160LYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001523 | Disease | p.GLU261LYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068300 | Disease | p.GLU290LYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001516 | Disease | p.GLY168ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001519 | Disease | p.GLY189ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001521 | Disease | p.GLY216ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001528 | Disease | p.GLY306ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068306 | Disease | p.GLY314ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068307 | Disease | p.GLY316ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001536 | Disease | p.GLY325ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008126 | Disease | p.GLY345ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068321 | Disease | p.GLY568ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001524 | Disease | p.GLY269ASP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068301 | Disease | p.GLY292ASP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068305 | Disease | p.GLY314ASP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008952 | Disease | p.GLY589ASP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001542 | Disease | p.GLY345GLU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009921 | Disease | p.GLY179SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009925 | Disease | p.GLY269SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001532 | Disease | p.GLY314SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068324 | Disease | p.GLY626SER | Long QT syndrome 1 (LQT1) |
dbSNP | rs1800172 | Polymorphism | p.GLY643SER | N/A |
Swiss-Prot | VAR_068293 | Disease | p.ILE235ASN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001531 | Disease | p.ILE313MET | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068292 | Disease | p.ILE204PHE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068320 | Disease | p.ILE567SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068297 | Disease | p.LEU273ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008943 | Disease | p.LEU250HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068311 | Disease | p.LEU374HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068323 | Disease | p.LEU619MET | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001525 | Disease | p.LEU273PHE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001540 | Disease | p.LEU342PHE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009924 | Disease | p.LEU266PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009180 | Disease | p.LEU353PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_048025 | Disease | p.LYS362ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008947 | Disease | p.LYS318ASN | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_048026 | Polymorphism | p.LYS393ASN | N/A |
Swiss-Prot | VAR_068316 | Disease | p.LYS526GLU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008124 | Disease | p.PHE157CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001535 | Disease | p.PRO320ALA | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009931 | Disease | p.PRO448ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_065778 | Disease | p.PRO320HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068309 | Disease | p.PRO343SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068287 | Disease | p.PRO73THR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_015742 | Disease | p.SER140GLY | Atrial fibrillation, familial, 3 (ATFB3) |
Swiss-Prot | VAR_009923 | Disease | p.SER225LEU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_065777 | Disease | p.SER277LEU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068317 | Disease | p.SER546LEU | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009932 | Disease | p.SER566PHE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008127 | Disease | p.SER373PRO | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009928 | Disease | p.SER349TRP | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068313 | Disease | p.SER389TYR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068319 | Disease | p.SER566TYR | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068308 | Disease | p.THR322ALA | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001529 | Disease | p.THR309ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009927 | Disease | p.THR311ILE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001530 | Disease | p.THR312ILE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009930 | Disease | p.THR391ILE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008951 | Disease | p.THR587MET | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008942 | Disease | p.TRP248ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068304 | Disease | p.TRP304ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008128 | Disease | p.TRP392ARG | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001527 | Disease | p.TRP305SER | Jervell and Lange-Nielsen syndrome 1 (JLNS1) |
Swiss-Prot | VAR_009918 | Disease | p.TYR111CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008945 | Disease | p.TYR281CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008946 | Disease | p.TYR315CYS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068299 | Disease | p.TYR278HIS | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_008125 | Disease | p.TYR184SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_001533 | Disease | p.TYR315SER | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068315 | Disease | p.VAL524GLY | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_068290 | Disease | p.VAL133ILE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_009926 | Disease | p.VAL310ILE | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_023841 | Disease | p.VAL307LEU | Short QT syndrome 2 (SQT2) |
Swiss-Prot | VAR_001522 | Disease | p.VAL254MET | Long QT syndrome 1 (LQT1) |
Swiss-Prot | VAR_010934 | Disease | p.VAL417MET | Long QT syndrome 1 (LQT1) |
OMIM | 607542.0009 | Disease | p.ALA341GLU | LONG QT SYNDROME 1||LONG QT SYNDROME 1/2, DIGENIC, INCLUDED |
OMIM | 607542.0002 | Disease | p.ALA178PRO | LONG QT SYNDROME 1 |
OMIM | 607542.0017 | Disease | p.ALA300THR | LONG QT SYNDROME 1 |
OMIM | 607542.0021 | Disease | p.ALA525THR | LONG QT SYNDROME 1, RECESSIVE |
OMIM | 607542.0010 | Disease | p.ALA341VAL | LONG QT SYNDROME 1 |
OMIM | 607542.0015 | Disease | p.ARG555CYS | LONG QT SYNDROME 1 |
OMIM | 607542.0031 | Disease | p.ARG583CYS | LONG QT SYNDROME 1||LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED |
OMIM | 607542.0004 | Disease | p.ARG190GLN | LONG QT SYNDROME 1 |
OMIM | 607542.0039 | Disease | p.ARG243PRO | LONG QT SYNDROME 1/2, DIGENIC |
OMIM | 607542.0020 | Disease | p.ARG518TER | LONG QT SYNDROME 1, RECESSIVE |
OMIM | 607542.0003 | Disease | p.GLY189ARG | LONG QT SYNDROME 1 |
OMIM | 607542.0007 | Disease | p.GLY306ARG | LONG QT SYNDROME 1 |
OMIM | 607542.0034 | Disease | p.GLY269ASP | LONG QT SYNDROME 1 |
OMIM | 607542.0029 | Disease | p.GLY589ASP | LONG QT SYNDROME 1||JERVELL AND LANGE-NIELSEN SYNDROME 1, INCLUDED |
OMIM | 607542.0011 | Disease | p.GLY345GLU | LONG QT SYNDROME 1 |
OMIM | 607542.0033 | Disease | p.GLY269SER | LONG QT SYNDROME 1 |
OMIM | 607542.0012 | Disease | p.GLY314SER | LONG QT SYNDROME 1 |
OMIM | 607542.0006 | Disease | p.LEU273PHE | LONG QT SYNDROME 1 |
OMIM | 607542.0030 | Disease | p.PRO117LEU | LONG QT SYNDROME 1 |
OMIM | 607542.0032 | Disease | p.SER140GLY | ATRIAL FIBRILLATION, FAMILIAL, 3 |
OMIM | 607542.0008 | Disease | p.THR312ILE | LONG QT SYNDROME 1 |
OMIM | 607542.0027 | Disease | p.THR587MET | JERVELL AND LANGE-NIELSEN SYNDROME 1 |
OMIM | 607542.0016 | Disease | p.TRP305SER | JERVELL AND LANGE-NIELSEN SYNDROME 1 |
OMIM | 607542.0037 | Disease | p.VAL307LEU | SHORT QT SYNDROME 2 |
OMIM | 607542.0040 | Disease | p.VAL205MET | LONG QT SYNDROME 1 |
OMIM | 607542.0005 607542.0035 | Disease | p.VAL254MET | LONG QT SYNDROME 1 |
OMIM | 607542.0035 | Disease | p.VAL417MET | LONG QT SYNDROME 1 |