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Mutations on the Protein: Q13950 From Positions: 182 To 208

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Swiss-Prot Disease: VAR_012142
p.ARG193CYS
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012139
p.ARG190GLN
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_064093
p.ARG193GLN
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012140
p.ARG190TRP
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_064095
p.ILE201LYS
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012144
p.LEU199PHE
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_064092
p.PHE187SER
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012143
p.PHE197SER
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012141
p.SER191ASN
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012145
p.THR200ALA
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_012146
p.THR205ARG
N/A
N/A
Cleidocranial dysplasia (CLCD)


Swiss-Prot Disease: VAR_064094
p.THR200ILE
N/A
N/A
Cleidocranial dysplasia (CLCD)


OMIM Disease: 600211.0005
p.SER191ASN
N/A
N/A
CLEIDOCRANIAL DYSPLASIA


OMIM Disease: 600211.0010
p.THR200ALA
N/A
N/A
CLEIDOCRANIAL DYSPLASIA||CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED






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