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  Search Results: 5 unique variants retrieved




  c.304T>A
p.Cys102Ser (56)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10418
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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Patient Information : Show

  c.304T>C
p.Cys102Arg (56)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10418
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
15
No. of bases:
1

Structural Information

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Patient Information : Show

  c.305G>T
p.Cys102Phe (56)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10419
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.305G>A
p.Cys102Tyr (56)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10419
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

  c.305G>C
p.Cys102Ser (56)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10419
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show


Factor IX Variant Database