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Search Results: 9 unique variants retrieved
c.1303T>C
p.Cys435Arg (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31286
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1303T>A
p.Cys435Ser (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31286
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1303T>G
p.Cys435Gly (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31286
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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c.1303_1304insGA
p.Cys435* (389)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31286
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 (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1304G>C
p.Cys481Ser (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31287
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.1304G>T
p.Cys435Tyr (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31287
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1304G>A
p.Cys435Tyr (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31287
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
19
No. of bases:
1
Structural Information
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c.1305T>G
p.Cys435Trp (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31288
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.1305T>A
p.Cys435* (389)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31288
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
-
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.