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Mutations on the Protein: P02545 From Positions: 199 To 232

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10
0
3


Swiss-Prot Disease: VAR_067697
p.ARG225GLN
N/A
N/A
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)


Swiss-Prot Disease: VAR_039770
p.ASP230ASN
N/A
N/A
Lipodystrophy, familial partial, 2 (FPLD2)


Swiss-Prot Disease: VAR_009978
p.GLU203GLY
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_039767
p.GLU203LYS
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_039771
p.GLY232GLU
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_039769
p.HIS222PRO
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_009979
p.HIS222TYR
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


Swiss-Prot Disease: VAR_070177
p.ILE210SER
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_039768
p.LEU215PRO
N/A
N/A
Cardiomyopathy, dilated 1A (CMD1A)


Swiss-Prot Disease: VAR_064964
p.PHE206LEU
N/A
N/A
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)


OMIM Disease: 150330.0042
p.ASP230ASN
N/A
N/A
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2


OMIM Disease: 150330.0008
p.GLU203GLY
N/A
N/A
CARDIOMYOPATHY, DILATED, 1A


OMIM Disease: 150330.0014
p.HIS222TYR
N/A
N/A
EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE






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