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Search Results: 6 unique variants retrieved
c.718T>A
p.Trp240Arg (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20560
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.718T>C
p.Trp240Arg (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20560
Mutation Effect:
Missense
Location:
Exon(6)
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.719G>A
p.Trp240* (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20561
Mutation Effect:
Nonsense
Location:
Exon(6)
CpG:
N
No. of patients reported:
10
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 6.
Patient Information : Show
c.719G>T
p.Trp240Leu (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20561
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.720G>A
p.Trp240* (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20562
Mutation Effect:
Nonsense
Location:
Exon(6)
CpG:
N
No. of patients reported:
11
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 6.
Patient Information : Show
c.720G>T
p.Trp240Cys (194)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20562
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.