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Search Results: 4 unique variants retrieved
c.754T>C
p.Cys252Arg (206)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30069
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.755G>A
p.Cys252Tyr (206)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30070
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
10
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.755G>C
p.Cys252Ser (206)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30070
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.756T>G
p.Cys252Trp (206)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30071
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.