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Search Results: 3 unique variants retrieved
c.796G>A
p.Ala266Thr (220)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30111
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.796G>C
p.Ala266Pro (220)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30111
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.797C>T
p.Ala266Val (220)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30112
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.