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  Search Results: 5 unique variants retrieved




  c.507C>T
p.Cys170Phe (124)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17784
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.508T>C
p.Cys170Arg (124)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17785
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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Patient Information : Show

  c.509G>A
p.Cys170Tyr (124)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17786
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
8
No. of bases:
1

Structural Information

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Patient Information : Show

  c.509G>T
p.Cys170Phe (124)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17786
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.509G>C
p.Cys170Ser (124)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17786
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show


Factor IX Variant Database