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Search Results: 6 unique variants retrieved
c.870dupA
p.Glu291Argfs*21 (245)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
30853
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 (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.871G>A
p.Glu291Lys (245)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30854
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.871G>T
p.Glu291* (245)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30854
Mutation Effect:
Nonsense
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 (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.872A>G
p.Glu291Gly (245)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30855
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.872A>T
p.Glu291Val (245)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30855
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.873G>T
p.Glu291Asp (245)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30856
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.