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Mutations on the Protein: P42336 From Positions: 320 To 374

6
5
0
1










Swiss-Prot Disease: VAR_069253
p.GLU365LYS
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Disease: VAR_069252
p.GLY364ARG
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Polymorphism: VAR_042943
p.SER332ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026169
p.TYR343CYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_069789
p.VAL356ILE
N/A
N/A
N/A


OMIM Disease: 171834.0018
p.VAL356ILE
N/A
N/A
COWDEN DISEASE 5






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