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Search Results: 7 unique variants retrieved
c.1087G>A
p.Gly363Arg (317)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31070
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1087G>C
p.Gly363Arg (317)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31070
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.1087G>T
p.Gly363Trp (317)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31070
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1088G>A
p.Gly363Glu (317)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31071
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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c.1088_1096delGGAGATCAinsA
p.Gly363Aspfs*8 (317)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31071
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
8
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1089G>T
p.Gly363Val (317)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31072
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.1088G>T
p.Gly363Val (317)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31082
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.