Mutations on the Protein: Q92908 From Positions: 446 To 476
Swiss-Prot Disease: VAR_067389 

p.ALA467THR

N/A
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N/A
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Pancreatic agenesis and congenital heart defects (PACHD)
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Swiss-Prot Disease: VAR_067385 

p.ARG456CYS

N/A
| |

N/A
|
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Pancreatic agenesis and congenital heart defects (PACHD)
|
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Swiss-Prot Disease: VAR_067386 

p.ARG456HIS

N/A
| |

N/A
|
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Pancreatic agenesis and congenital heart defects (PACHD)
|
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Swiss-Prot Disease: VAR_067387 

p.ASN466ASP

N/A
| |

N/A
|
---|

Pancreatic agenesis and congenital heart defects (PACHD)
|
---|
Swiss-Prot Disease: VAR_067388 

p.ASN466HIS

N/A
| |

N/A
|
---|

Conotruncal heart malformations (CTHM)
|
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Swiss-Prot Disease: VAR_067390 

p.LYS473GLN

N/A
| |

N/A
|
---|

Pancreatic agenesis and congenital heart defects (PACHD)
|
---|
Swiss-Prot Disease: VAR_067384 

p.THR452ALA

N/A
| |

N/A
|
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Pancreatic agenesis and congenital heart defects (PACHD)
|
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OMIM Disease: 601656.0011 

p.ALA467THR

N/A
| |

N/A
|
---|

PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
|
---|
OMIM Disease: 601656.0008 

p.ARG456CYS

N/A
| |

N/A
|
---|

PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
|
---|
OMIM Disease: 601656.0009 

p.ARG456HIS

N/A
| |

N/A
|
---|

PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
|
---|
OMIM Disease: 601656.0010 

p.ASN466ASP

N/A
| |

N/A
|
---|

PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
|
---|
OMIM Disease: 601656.0002 

p.ASN466HIS

N/A
| |

N/A
|
---|

PERSISTENT TRUNCUS ARTERIOSUS
|
---|
OMIM Disease: 601656.0006 

p.THR452ALA

N/A
| |

N/A
|
---|

PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
|
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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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