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Search Results: 2 unique variants retrieved
c.946A>T
p.Ile316Phe (270)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30929
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.947T>C
p.Ile316Thr (270)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30930
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.