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Mutations on the Protein: Q13315 From Positions: 2139 To 2292

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Swiss-Prot Polymorphism: VAR_010848
p.ALA2274THR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_010846
p.ARG2227CYS
N/A
N/A
Ataxia telangiectasia (AT)


Swiss-Prot Polymorphism: VAR_010843
p.GLU2164LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_010849
p.GLY2287ALA
N/A
N/A
N/A


Swiss-Prot Disease: VAR_010844
p.SER2218CYS
N/A
N/A
Ataxia telangiectasia (AT)






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