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Mutations on the Protein: P46100 From Positions: 125 To 249

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Swiss-Prot Disease: VAR_001232
p.ARG246CYS
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_010914
p.ARG246LEU
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012115
p.ASN179SER
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001229
p.CYS220ARG
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001231
p.CYS243PHE
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001228
p.CYS200SER
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_032625
p.CYS220TYR
N/A
N/A
Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)


Swiss-Prot Disease: VAR_012119
p.GLN219PRO
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001233
p.GLY249ASP
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012120
p.GLY249CYS
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012113
p.GLY175GLU
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001227
p.LEU192PHE
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001226
p.PRO190ALA
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012116
p.PRO190LEU
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012117
p.PRO190SER
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_001230
p.TRP222SER
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)


Swiss-Prot Disease: VAR_012118
p.VAL194ILE
N/A
N/A
Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)






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