Variant VAR_018549

HomeMutation profile

All mutations from PKHD1_HUMAN

114 mutations listed

Variant UniProt ID Mutation Disease Mutation Type dTANGO dWALTZ dLIMBO ddG
VAR_018542 PKHD1_HUMAN G1123S Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018546 PKHD1_HUMAN P1389T Polycystic kidney disease autosomal recessive (ARPKD) Disease 55 0 2 N.A.
VAR_018575 PKHD1_HUMAN A3072V - Polymorphism 279 0 0 N.A.
VAR_018577 PKHD1_HUMAN D3088N - Polymorphism 0 3 0 N.A.
VAR_018540 PKHD1_HUMAN M997K Polycystic kidney disease autosomal recessive (ARPKD) Disease -117 0 613 N.A.
VAR_018581 PKHD1_HUMAN I3167L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 -20 0 N.A.
VAR_018578 PKHD1_HUMAN R3107P - Polymorphism -2 0 0 N.A.
VAR_018580 PKHD1_HUMAN R3143I - Polymorphism 345 -7 0 N.A.
VAR_018547 PKHD1_HUMAN C1472Y Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 1 0 N.A.
VAR_018551 PKHD1_HUMAN T1781I Polycystic kidney disease autosomal recessive (ARPKD) Disease 394 52 0 N.A.
VAR_018539 PKHD1_HUMAN T899P Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018585 PKHD1_HUMAN S3289I - Polymorphism 0 1 0 N.A.
VAR_018560 PKHD1_HUMAN V2032L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 -26 N.A.
VAR_018558 PKHD1_HUMAN G1971D Polycystic kidney disease autosomal recessive (ARPKD) Disease 9 -1 144 N.A.
VAR_018533 PKHD1_HUMAN D703N Polycystic kidney disease autosomal recessive (ARPKD) Disease 23 123 0 N.A.
VAR_018588 PKHD1_HUMAN V3440D - Polymorphism -26 -1 0 N.A.
VAR_018536 PKHD1_HUMAN I757L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018593 PKHD1_HUMAN S3505R - Polymorphism 2 0 0 N.A.
VAR_018574 PKHD1_HUMAN V3036G Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 -1 1 N.A.
VAR_018595 PKHD1_HUMAN E3551K - Polymorphism 4 0 0 N.A.
VAR_018573 PKHD1_HUMAN S2983L Polycystic kidney disease autosomal recessive (ARPKD) Disease 53 -1 0 N.A.
VAR_018598 PKHD1_HUMAN R3842L - Polymorphism 1 0 0 N.A.
VAR_018548 PKHD1_HUMAN P1486L Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
VAR_018567 PKHD1_HUMAN D2761Y Polycystic kidney disease autosomal recessive (ARPKD) Disease 14 131 -13 N.A.
VAR_018568 PKHD1_HUMAN L2772P Polycystic kidney disease autosomal recessive (ARPKD) Disease 0 0 0 N.A.
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