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Search Results: 3 unique variants retrieved
c.1100_1107delTAGTTCTT
p.Leu367Tyrfs*57 (321)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31083
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 (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1100delT
p.Leu367* (321)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31084
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.1101A>T
p.Leu367Phe (321)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
31084
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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