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Search Results: 5 unique variants retrieved
c.1038delC
p.Lys347Asnfs*? (301)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31021
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.1039A>G
p.Lys347Glu (301)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31022
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.1040A>T
p.Lys347Ile (301)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31023
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1040A>G
p.Lys347Arg (301)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31023
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1041A>C
p.Lys347Asn (301)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31024
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.