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Search Results: 2 unique variants retrieved
c.1126C>T
p.Leu376Phe (330)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31109
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.1127T>C
p.Leu376Pro (330)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31110
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.