Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_018541 | Disease | p.ALA1030GLU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018564 | Polymorphism | p.ALA2615GLY | N/A |
Swiss-Prot | VAR_018544 | Polymorphism | p.ALA1150PRO | N/A |
Swiss-Prot | VAR_066431 | Disease | p.ALA2009THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066444 | Disease | p.ALA3207THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs9296669 | Polymorphism | p.ALA1262VAL | N/A |
Swiss-Prot | VAR_018520 | Disease | p.ALA17VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066420 | Disease | p.ALA293VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018575 | Polymorphism | p.ALA3072VAL | N/A |
Swiss-Prot | VAR_036229 | Polymorphism | p.ARG1081CYS | N/A |
Swiss-Prot | VAR_066438 | Disease | p.ARG2573CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018591 | Disease | p.ARG3482CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066446 | Disease | p.ARG3957CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066425 | Polymorphism | p.ARG723CYS | N/A |
dbSNP | rs9370096 | Polymorphism | p.ARG760CYS | N/A |
Swiss-Prot | VAR_036228 | Polymorphism | p.ARG19HIS | N/A |
Swiss-Prot | VAR_027443 | Polymorphism | p.ARG3913HIS | N/A |
Swiss-Prot | VAR_014044 | Disease | p.ARG760HIS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018580 | Polymorphism | p.ARG3143ILE | N/A |
Swiss-Prot | VAR_018598 | Polymorphism | p.ARG3842LEU | N/A |
Swiss-Prot | VAR_018578 | Polymorphism | p.ARG3107PRO | N/A |
Swiss-Prot | VAR_018529 | Polymorphism | p.ARG488PRO | N/A |
Swiss-Prot | VAR_018530 | Disease | p.ARG496PRO | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014051 | Disease | p.ARG1624TRP | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_051282 | Polymorphism | p.ARG760TRP | N/A |
Swiss-Prot | VAR_066416 | Disease | p.ARG92TRP | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018582 | Disease | p.ASN3175ASP | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018583 | Disease | p.ASN3175SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs62406032 | Polymorphism | p.ASN830SER | N/A |
Swiss-Prot | VAR_018577 | Polymorphism | p.ASP3088ASN | N/A |
Swiss-Prot | VAR_018533 | Disease | p.ASP703ASN | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018557 | Disease | p.ASP1942GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018572 | Disease | p.ASP2962GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018567 | Disease | p.ASP2761TYR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_027440 | Polymorphism | p.ASP3052TYR | N/A |
Swiss-Prot | VAR_014060 | Polymorphism | p.ASP3139TYR | N/A |
Swiss-Prot | VAR_018586 | Disease | p.ASP3293VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066436 | Disease | p.CYS2422ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066441 | Disease | p.CYS2803ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018587 | Disease | p.CYS3346ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018563 | Disease | p.CYS2422GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018566 | Disease | p.CYS2688PHE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014048 | Disease | p.CYS1249TRP | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014047 | Polymorphism | p.CYS1204TYR | N/A |
Swiss-Prot | VAR_018547 | Disease | p.CYS1472TYR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018596 | Disease | p.CYS3622TYR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014054 | Disease | p.GLN1917ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs4715227 | Polymorphism | p.GLN3899ARG | N/A |
dbSNP | rs9381994 | Polymorphism | p.GLN4048ARG | N/A |
Swiss-Prot | VAR_018526 | Polymorphism | p.GLU457ASP | N/A |
Swiss-Prot | VAR_018594 | Disease | p.GLU3529GLN | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014055 | Disease | p.GLU1995GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_036231 | Polymorphism | p.GLU1806LYS | N/A |
Swiss-Prot | VAR_018595 | Polymorphism | p.GLU3551LYS | N/A |
Swiss-Prot | VAR_066437 | Disease | p.GLU2431VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018592 | Disease | p.GLU3502VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066427 | Polymorphism | p.GLY1712ARG | N/A |
Swiss-Prot | VAR_066435 | Disease | p.GLY2224ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018558 | Disease | p.GLY1971ASP | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066433 | Disease | p.GLY2210GLU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066421 | Disease | p.GLY466GLU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014046 | Disease | p.GLY1122SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018542 | Disease | p.GLY1123SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018522 | Disease | p.GLY223SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018524 | Disease | p.GLY326VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066422 | Disease | p.GLY470VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066443 | Disease | p.HIS3049ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066424 | Disease | p.HIS686PRO | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018579 | Disease | p.HIS3124TYR | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs76260483 | Polymorphism | p.ILE2364ASN | N/A |
dbSNP | rs2661488 | Polymorphism | p.ILE3905ASN | N/A |
Swiss-Prot | VAR_018581 | Disease | p.ILE3167LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018536 | Disease | p.ILE757LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014056 | Disease | p.ILE2331LYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018562 | Disease | p.ILE2303PHE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018527 | Disease | p.ILE473SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018559 | Disease | p.ILE1998THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066417 | Disease | p.ILE246THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014058 | Disease | p.ILE2957THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018523 | Disease | p.ILE307THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018584 | Disease | p.ILE3177THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014061 | Disease | p.ILE3553THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066423 | Disease | p.ILE539THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014040 | Disease | p.ILE222VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018521 | Polymorphism | p.ILE25VAL | N/A |
Swiss-Prot | VAR_066419 | Polymorphism | p.ILE292VAL | N/A |
Swiss-Prot | VAR_018576 | Disease | p.ILE3081VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018589 | Disease | p.ILE3468VAL | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_036230 | Polymorphism | p.LEU1096ARG | N/A |
Swiss-Prot | VAR_014050 | Disease | p.LEU1407ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066432 | Disease | p.LEU2106ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018550 | Polymorphism | p.LEU1709PHE | N/A |
Swiss-Prot | VAR_018561 | Disease | p.LEU2134PRO | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018568 | Disease | p.LEU2772PRO | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs2435322 | Polymorphism | p.LEU1870VAL | N/A |
dbSNP | rs117122807 | Polymorphism | p.LYS626ARG | N/A |
Swiss-Prot | VAR_066442 | Disease | p.MET2804LYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018540 | Disease | p.MET997LYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014041 | Disease | p.PHE253LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_027439 | Disease | p.PHE372LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066426 | Disease | p.PRO724ARG | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018548 | Disease | p.PRO1486LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018535 | Disease | p.PRO739LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018537 | Disease | p.PRO805LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018597 | Disease | p.PRO3783SER | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018546 | Disease | p.PRO1389THR | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018593 | Polymorphism | p.SER3505ARG | N/A |
Swiss-Prot | VAR_018555 | Disease | p.SER1867ASN | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018569 | Disease | p.SER2861GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018549 | Disease | p.SER1584ILE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018585 | Polymorphism | p.SER3289ILE | N/A |
Swiss-Prot | VAR_018545 | Polymorphism | p.SER1283LEU | N/A |
Swiss-Prot | VAR_018553 | Disease | p.SER1833LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066434 | Disease | p.SER2219LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018573 | Disease | p.SER2983LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014052 | Disease | p.SER1664PHE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014059 | Disease | p.SER3018PHE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018565 | Disease | p.THR2641ALA | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018551 | Disease | p.THR1781ILE | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018571 | Polymorphism | p.THR2869LYS | N/A |
Swiss-Prot | VAR_014057 | Polymorphism | p.THR2938MET | N/A |
Swiss-Prot | VAR_014039 | Disease | p.THR36MET | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018531 | Polymorphism | p.THR579MET | N/A |
Swiss-Prot | VAR_014042 | Polymorphism | p.THR752MET | N/A |
Swiss-Prot | VAR_018539 | Disease | p.THR899PRO | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014045 | Polymorphism | p.TRP852ARG | N/A |
Swiss-Prot | VAR_018532 | Disease | p.TRP656CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066430 | Disease | p.TRP1928LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018543 | Polymorphism | p.TYR1136CYS | N/A |
Swiss-Prot | VAR_018554 | Disease | p.TYR1838CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066418 | Disease | p.TYR255CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018570 | Disease | p.TYR2863CYS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066439 | Polymorphism | p.TYR2661HIS | N/A |
Swiss-Prot | VAR_018528 | Disease | p.TYR486HIS | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066445 | Polymorphism | p.VAL3219ALA | N/A |
Swiss-Prot | VAR_018588 | Polymorphism | p.VAL3440ASP | N/A |
Swiss-Prot | VAR_066428 | Disease | p.VAL1817GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066429 | Disease | p.VAL1875GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_066440 | Disease | p.VAL2798GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018574 | Disease | p.VAL3036GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018590 | Disease | p.VAL3471GLY | Polycystic kidney disease, autosomal recessive (ARPKD) |
dbSNP | rs9474034 | Polymorphism | p.VAL3837ILE | N/A |
Swiss-Prot | VAR_014062 | Polymorphism | p.VAL3960ILE | N/A |
Swiss-Prot | VAR_018552 | Disease | p.VAL1789LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018560 | Disease | p.VAL2032LEU | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_014053 | Disease | p.VAL1741MET | Polycystic kidney disease, autosomal recessive (ARPKD) |
Swiss-Prot | VAR_018534 | Polymorphism | p.VAL732PHE | N/A |
OMIM | 606702.0005 | Disease | p.ARG2671TER | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0007 | Disease | p.ARG496TER | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0006 | Disease | p.ILE3553THR | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0002 | Disease | p.SER1664PHE | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0003 | Disease | p.SER3018PHE | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0001 | Disease | p.THR36MET | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE||COLORECTAL CANCER, PROTECTION AGAINST, INCLUDED |
OMIM | 606702.0008 | Disease | p.VAL3471GLY | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
OMIM | 606702.0004 | Disease | p.VAL1741MET | POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |