Variant VAR_014046

HomeMutation profile

All mutations from PKHD1_HUMAN

114 mutations listed

Variant UniProt ID Mutation Disease Mutation Type dTANGO dWALTZ dLIMBO ddG
VAR_051282 PKHD1_HUMAN R760W - Polymorphism 39 0 0 N.A.
VAR_018590 PKHD1_HUMAN V3471G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 -22 N.A.
VAR_018582 PKHD1_HUMAN N3175D Polycystic kidney disease autosomal recessive (ARPKD) Disease -55 1 0 N.A.
VAR_018559 PKHD1_HUMAN I1998T Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018569 PKHD1_HUMAN S2861G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 -5 15 N.A.
VAR_018561 PKHD1_HUMAN L2134P Polycystic kidney disease autosomal recessive (ARPKD) Disease -23 0 3 N.A.
VAR_018591 PKHD1_HUMAN R3482C Polycystic kidney disease autosomal recessive (ARPKD) Disease 646 1 1 N.A.
VAR_018597 PKHD1_HUMAN P3783S Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 5 0 N.A.
VAR_018583 PKHD1_HUMAN N3175S Polycystic kidney disease autosomal recessive (ARPKD) Disease 2 0 0 N.A.
VAR_018596 PKHD1_HUMAN C3622Y Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018587 PKHD1_HUMAN C3346R Polycystic kidney disease autosomal recessive (ARPKD) Disease 2 0 0 N.A.
VAR_018589 PKHD1_HUMAN I3468V Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 1 N.A.
VAR_018594 PKHD1_HUMAN E3529Q Polycystic kidney disease autosomal recessive (ARPKD) Disease 9 0 -220 N.A.
VAR_027439 PKHD1_HUMAN F372L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
Comma Separated Values documentMicrosoft Excel document