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Search Results: 5 unique variants retrieved
c.1105C>T
p.Leu369Phe (323)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31088
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1105C>G
p.Leu369Val (323)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31088
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.
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c.1106T>C
p.Leu369Pro (323)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31089
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1106_1113del
p.Leu369fs*? (323)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31089
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
8
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.1107T>C
p.Leu369Leu (323)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31090
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.