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Search Results: 6 unique variants retrieved
c.802T>A
p.Cys268Ser (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30117
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.802T>C
p.Cys268Arg (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30117
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.
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c.802T>G
p.Cys268Gly (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30117
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.803G>T
p.Cys268Phe (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30118
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.803G>A
p.Cys268Tyr (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30118
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
-
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.804T>G
p.Cys268Trp (222)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30119
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.