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Mutations on the Protein: P08F94 From Positions: 1630 To 1833

11
9
0
2




Swiss-Prot Polymorphism: VAR_036231
p.GLU1806LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_066427
p.GLY1712ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_018550
p.LEU1709PHE
N/A
N/A
N/A


Swiss-Prot Disease: VAR_018553
p.SER1833LEU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014052
p.SER1664PHE
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018551
p.THR1781ILE
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066428
p.VAL1817GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018552
p.VAL1789LEU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014053
p.VAL1741MET
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


OMIM Disease: 606702.0002
p.SER1664PHE
N/A
N/A
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE


OMIM Disease: 606702.0004
p.VAL1741MET
N/A
N/A
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE






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