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Mutations on the Protein: P42336 From Positions: 1015 To 1068

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Swiss-Prot Polymorphism: VAR_026187
p.ARG1023GLN
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026194
p.GLY1050ASP
N/A
N/A
N/A


Swiss-Prot Disease: VAR_069259
p.GLY1049SER
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Disease: VAR_026192
p.HIS1047ARG
N/A
N/A
Keratosis, seborrheic (KERSEB)


Swiss-Prot Polymorphism: VAR_026191
p.HIS1047LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026196
p.HIS1065LEU
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026193
p.HIS1047TYR
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Polymorphism: VAR_026197
p.HIS1065TYR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026190
p.MET1043ILE
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Disease: VAR_069258
p.THR1025ALA
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Polymorphism: VAR_026188
p.THR1025ASN
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026195
p.THR1052LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_026186
p.TYR1021ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026184
p.TYR1021CYS
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


Swiss-Prot Polymorphism: VAR_026185
p.TYR1021HIS
N/A
N/A
N/A


OMIM Disease: 171834.0001
p.HIS1047ARG
N/A
N/A
BREAST CANCER, SOMATIC||OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;||COLORECTAL CANCER, SOMATIC, INCLUDED;;||GASTRIC


OMIM Disease: 171834.0002
p.HIS1047LEU
N/A
N/A
BREAST CANCER, SOMATIC||CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC, INCLUDED


OMIM Disease: 171834.0013
p.HIS1047TYR
N/A
N/A
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC






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