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  Search Results: 6 unique variants retrieved




  c.1003T>C
p.Cys335Arg (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30986
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1003T>A
p.Cys335Ser (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30986
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1004G>A
p.Cys335Tyr (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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  c.1004G>T
p.Cys335Phe (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
6
No. of bases:
1

Structural Information

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  c.1004G>C
p.Cys335Ser (289)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30987
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.1005C>G
p.Cys335Trp (289)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30988
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show


Factor IX Variant Database