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Search Results: 11 unique variants retrieved
c.1066T>A
p.Trp356Arg (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31049
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1066T>C
p.Trp356Arg (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31049
Mutation Effect:
Missense
Location:
Exon(8)
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.
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c.1066T>G
p.Trp356Gly (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31049
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1067G>A
p.Trp356* (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31050
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1067G>T
p.Trp356Leu (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31050
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
7
No. of bases:
1
Structural Information
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c.1067G>C
p.Trp356Ser (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31050
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1067delG
p.Trp356Trpfs*12 (310)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31050
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1068G>A
p.Trp356* (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31051
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1068G>C
p.Trp356Cys (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31051
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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c.1068G>T
p.Trp356Cys (310)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31051
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1068_1069delinsAA
p.Trp356* (310)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31051
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Nonsense) of mutation at Exon 8.