Variant VAR_018538

HomeMutation profile

All mutations from PKHD1_HUMAN

114 mutations listed

Variant UniProt ID Mutation Disease Mutation Type dTANGO dWALTZ dLIMBO ddG
VAR_014046 PKHD1_HUMAN G1122S Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_014058 PKHD1_HUMAN I2957T Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 -27 N.A.
VAR_018538 PKHD1_HUMAN N830S - Polymorphism 0 0 163 N.A.
VAR_018524 PKHD1_HUMAN G326V Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018543 PKHD1_HUMAN Y1136C - Polymorphism 0 0 -408 N.A.
VAR_018544 PKHD1_HUMAN A1150P - Polymorphism 0 0 0 N.A.
VAR_018545 PKHD1_HUMAN S1283L - Polymorphism 0 0 0 N.A.
VAR_014059 PKHD1_HUMAN S3018F Polycystic kidney disease autosomal recessive (ARPKD) Disease 467 -180 -4 N.A.
VAR_014050 PKHD1_HUMAN L1407R Polycystic kidney disease autosomal recessive (ARPKD) Disease -27 0 -2 N.A.
VAR_018520 PKHD1_HUMAN A17V Polycystic kidney disease autosomal recessive (ARPKD) Disease -23 -314 0 N.A.
VAR_014061 PKHD1_HUMAN I3553T Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018522 PKHD1_HUMAN G223S Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018550 PKHD1_HUMAN L1709F - Polymorphism 0 0 0 N.A.
VAR_018532 PKHD1_HUMAN W656C Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018530 PKHD1_HUMAN R496P Polycystic kidney disease autosomal recessive (ARPKD) Disease -2 0 14 N.A.
VAR_014056 PKHD1_HUMAN I2331K Polycystic kidney disease autosomal recessive (ARPKD) Disease 2 0 0 N.A.
VAR_018528 PKHD1_HUMAN Y486H Polycystic kidney disease autosomal recessive (ARPKD) Disease -260 -1 15 N.A.
VAR_018537 PKHD1_HUMAN P805L Polycystic kidney disease autosomal recessive (ARPKD) Disease 43 10 -1 N.A.
VAR_018556 PKHD1_HUMAN L1870V - Polymorphism 0 0 0 N.A.
VAR_018541 PKHD1_HUMAN A1030E Polycystic kidney disease autosomal recessive (ARPKD) Disease -10 0 0 N.A.
VAR_018535 PKHD1_HUMAN P739L Polycystic kidney disease autosomal recessive (ARPKD) Disease 384 0 0 N.A.
VAR_018523 PKHD1_HUMAN I307T Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018562 PKHD1_HUMAN I2303F Polycystic kidney disease autosomal recessive (ARPKD) Disease 13 -105 0 N.A.
VAR_018564 PKHD1_HUMAN A2615G - Polymorphism -267 7 43 N.A.
VAR_018571 PKHD1_HUMAN T2869K - Polymorphism 2 0 -645 N.A.
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