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Search Results: 7 unique variants retrieved
c.837_838insA
p.Gly280Argfs*2 (234)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
30152
Mutation Effect:
Frameshift
Location:
Exon(7)
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 (Insertion | Frameshift) of mutation at Exon 7.
Patient Information : Show
c.838G>T
p.Gly280Cys (234)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30153
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.838G>A
p.Gly280Ser (234)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30153
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.838G>C
p.Gly280Arg (234)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30153
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.838+245_1283del
p.Gly280_428del (234)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30153
Mutation Effect:
Gross deletion
Location:
Exon(7)
CpG:
-
No. of patients reported:
2
No. of bases:
445
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Gross deletion) of mutation at Exon 7.
Patient Information : Show
c.839G>T
p.Gly280Val (234)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30822
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.839G>A
p.Gly280Asp (234)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30822
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.