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Mutations on the Protein: Q9H3D4 From Positions: 306 To 340

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Swiss-Prot Disease: VAR_032741
p.ARG318CYS
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_020874
p.ARG319CYS
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_032742
p.ARG318GLN
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_020875
p.ARG337GLN
N/A
N/A
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)


Swiss-Prot Disease: VAR_020873
p.ARG318HIS
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_032743
p.ARG319HIS
N/A
N/A
Split-hand/foot malformation 4 (SHFM4)


Swiss-Prot Disease: VAR_032744
p.ARG319SER
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_032739
p.CYS308TYR
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


Swiss-Prot Disease: VAR_032740
p.SER311ASN
N/A
N/A
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)


OMIM Disease: 603273.0021
p.ARG313GLY
N/A
N/A
OROFACIAL CLEFT 8


OMIM Disease: 603273.0015
p.ASP312GLY
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3


OMIM Disease: 603273.0003
p.CYS306ARG
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3






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