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Search Results: 5 unique variants retrieved
c.1067delG
p.Gly360Glufs*? (314)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
31050
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.1078T>A
p.Phe360Ile (314)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31061
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.1078T>C
p.Phe360Leu (314)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31061
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
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.1079T>C
p.Phe360Ser (314)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31062
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.1079T>G
p.Phe360Cys (314)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31062
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.