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Search Results: 7 unique variants retrieved
c.1108C>G
p.Gln370Glu (324)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31091
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1108C>T
p.Gln370* (324)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31091
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
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.1109A>C
p.Gln370Pro (324)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31092
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1109A>T
p.Gln370Leu (324)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31092
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.1109A>T
p.Gln370Leu (324)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31092
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.
Patient Information : Show
c.1110G>A
p.Gln370Gln (324)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31093
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 8.
Patient Information : Show
c.1110G>A
p.Gln370Gln (324)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31093
Mutation Effect:
Silent
Location:
Exon(8)
CpG:
-
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 (Polymorphism | Silent) of mutation at Exon 8.