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  Search Results: 5 unique variants retrieved




  c.289T>C
p.Cys97Arg (51)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10403
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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Patient Information : Show

  c.289T>A
p.Cys97Ser (51)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10403
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.290G>C
p.Cys97Ser (51)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10404
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.290G>A
p.Cys97Tyr (51)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10404
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.291T>G
p.Cys97Trp (51)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10405
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
6
No. of bases:
1

Structural Information

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Patient Information : Show


Factor IX Variant Database