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Mutations on the Protein: Q13315 From Positions: 2445 To 2598

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Swiss-Prot Polymorphism: VAR_010859
p.ARG2486GLY
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_041578
p.CYS2464ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_056690
p.GLU2570GLY
N/A
N/A
N/A


Swiss-Prot Disease: VAR_010862
p.HIS2554ASP
N/A
N/A
Ataxia telangiectasia (AT)


Swiss-Prot Polymorphism: VAR_041579
p.LEU2492ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_010860
p.TRP2491ARG
N/A
N/A
Ataxia telangiectasia (AT)


Swiss-Prot Disease: VAR_010858
p.TYR2470ASP
N/A
N/A
Ataxia telangiectasia (AT)






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