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Mutations on the Protein: NP_001244303 From Positions: 402 To 431

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OMIM Disease: 150330.0046
p.ALA417THR
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0037
p.ALA417VAL
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0026
p.ARG415CYS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


OMIM Disease: 150330.0053
p.ARG429GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A


OMIM Disease: 150330.0021
p.ARG415HIS
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY||MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUD


OMIM Disease: 150330.0003
p.ARG415PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT||LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED


OMIM Disease: 150330.0004
p.LEU418PRO
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT


OMIM Disease: 150330.0033
p.LYS430ASN
N/A
N/A
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY






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