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Search Results: 3 unique variants retrieved
c.849_850 delTA or c.850_851delAT
p.Ile284*fs? (238)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30832
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
2
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.850_852delATT
p.Ile330del (238)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30833
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
3
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.851T>A
p.Ile284Asn (238)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30834
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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