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Mutations on the Protein: NP_000042 From Positions: 2292 To 2445

4
0
1
3



dbSNP Polymorphism: rs4988111
p.LEU2332PRO
N/A
N/A
N/A


OMIM Disease: 607585.0019
p.ARG2443TER
N/A
N/A
ATAXIA-TELANGIECTASIA


OMIM Disease: 607585.0022
p.GLU2423GLY
N/A
N/A
MANTLE CELL LYMPHOMA


OMIM Disease: 607585.0005
p.VAL2424GLY
N/A
N/A
ATAXIA-TELANGIECTASIA VARIANT||T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;||BREAST CANCER, SUSCEPTIBILITY TO, IN






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