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Search Results: 6 unique variants retrieved
c.532T>C
p.Cys178Arg (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20374
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
15
No. of bases:
1
Structural Information
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c.533G>A
p.Cys178Tyr (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20375
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
8
No. of bases:
1
Structural Information
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c.533G>C
p.Cys178Ser (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20375
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.533G>T
p.Cys178Phe (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20375
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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c.534T>G
p.Cys178Trp (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20376
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.
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c.534T>A
p.Cys178* (132)
Mutation Type:
Point
Domain:
Linker
Nucleotide number:
20376
Mutation Effect:
Nonsense
Location:
Exon(6)
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 6.