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_018572 PKHD1_HUMAN D2962G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 23 N.A.
VAR_027441 PKHD1_HUMAN V3837I - Polymorphism 0 0 0 N.A.
VAR_018599 PKHD1_HUMAN Q3899R - Polymorphism 2 0 0 N.A.
VAR_018576 PKHD1_HUMAN I3081V Polycystic kidney disease autosomal recessive (ARPKD) Disease 4 0 0 N.A.
VAR_027440 PKHD1_HUMAN D3052Y - Polymorphism 0 9 0 N.A.
VAR_027442 PKHD1_HUMAN I3905N - Polymorphism 0 0 0 N.A.
VAR_018563 PKHD1_HUMAN C2422G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018579 PKHD1_HUMAN H3124Y Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 23 0 N.A.
VAR_018555 PKHD1_HUMAN S1867N Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 18 0 N.A.
VAR_018557 PKHD1_HUMAN D1942G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018553 PKHD1_HUMAN S1833L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 82 N.A.
VAR_018549 PKHD1_HUMAN S1584I Polycystic kidney disease autosomal recessive (ARPKD) Disease 2 0 0 N.A.
VAR_036228 PKHD1_HUMAN R19H A colorectal cancer sample Unclassified -55 85 0 N.A.
VAR_018584 PKHD1_HUMAN I3177T Polycystic kidney disease autosomal recessive (ARPKD) Disease -102 1 0 N.A.
VAR_027443 PKHD1_HUMAN R3913H - Polymorphism -2 0 0 N.A.
VAR_036229 PKHD1_HUMAN R1081C A colorectal cancer sample Unclassified 348 0 0 N.A.
VAR_018570 PKHD1_HUMAN Y2863C Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 -3 0 N.A.
VAR_036230 PKHD1_HUMAN L1096R A colorectal cancer sample Unclassified 2 -1 0 N.A.
VAR_018552 PKHD1_HUMAN V1789L Polycystic kidney disease autosomal recessive (ARPKD) Disease -25 0 -213 N.A.
VAR_036231 PKHD1_HUMAN E1806K A colorectal cancer sample Unclassified 2 0 0 N.A.
VAR_018586 PKHD1_HUMAN D3293V Polycystic kidney disease autosomal recessive (ARPKD) Disease 65 -2 0 N.A.
VAR_018592 PKHD1_HUMAN E3502V Polycystic kidney disease autosomal recessive (ARPKD) Disease 125 2 0 N.A.
VAR_018566 PKHD1_HUMAN C2688F Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 315 0 N.A.
VAR_018565 PKHD1_HUMAN T2641A Polycystic kidney disease autosomal recessive (ARPKD) Disease 1 13 0 N.A.
VAR_018554 PKHD1_HUMAN Y1838C Polycystic kidney disease autosomal recessive (ARPKD) Disease -6 -5 -7 N.A.
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