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Search Results: 5 unique variants retrieved
c.967_968insAACC
p.Leu328Thrfs*? (282)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.982A>T
p.Asn328Tyr (282)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30965
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.983A>T
p.Asn328Ile (282)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30966
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.983_985dupACA
p.Asn328dup (282)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
30966
Mutation Effect:
Inframe
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Duplication | Inframe) of mutation at Exon 8.
Patient Information : Show
c.984C>G
p.Asn328Lys (282)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30967
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.