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Search Results: 3 unique variants retrieved
c.784A>T
p.Ile262Phe (216)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30099
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.785T>C
p.Ile262Thr (216)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30100
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.786T>G
p.Ile262Met (216)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30101
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.