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Mutations on the Protein: Q92908 From Positions: 446 To 476

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Swiss-Prot Disease: VAR_067389
p.ALA467THR
N/A
N/A
Pancreatic agenesis and congenital heart defects (PACHD)


Swiss-Prot Disease: VAR_067385
p.ARG456CYS
N/A
N/A
Pancreatic agenesis and congenital heart defects (PACHD)


Swiss-Prot Disease: VAR_067386
p.ARG456HIS
N/A
N/A
Pancreatic agenesis and congenital heart defects (PACHD)


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)


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
Pancreatic agenesis and congenital heart defects (PACHD)


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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