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Mutations on the Protein: P02462 From Positions: 501 To 584

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6
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Swiss-Prot Disease: VAR_064494
p.GLY510ARG
N/A
N/A
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)


Swiss-Prot Disease: VAR_044160
p.GLY519ARG
N/A
N/A
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)


Swiss-Prot Disease: VAR_044161
p.GLY528GLU
N/A
N/A
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)


Swiss-Prot Disease: VAR_030028
p.GLY562GLU
N/A
N/A
Brain small vessel disease with hemorrhage (BSVDH)


Swiss-Prot Disease: VAR_064495
p.GLY525LEU
N/A
N/A
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)


Swiss-Prot Polymorphism: VAR_030511
p.THR555PRO
N/A
N/A
N/A


OMIM Disease: 120130.0016
p.ARG538GLY
N/A
N/A
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO


OMIM Disease: 120130.0013
p.GLY510ARG
N/A
N/A
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS


OMIM Disease: 120130.0008
p.GLY519ARG
N/A
N/A
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS


OMIM Disease: 120130.0009
p.GLY528GLU
N/A
N/A
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS


OMIM Disease: 120130.0003
p.GLY562GLU
N/A
N/A
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE


OMIM Disease: 120130.0014
p.GLY525LEU
N/A
N/A
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS






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