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  Search Results: 3 unique variants retrieved




  c.196G>A
p.Glu66Lys (20)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6433
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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Patient Information : Show

  c.197A>T
p.Glu66Val (20)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6434
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
4
No. of bases:
1

Structural Information

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Patient Information : Show

  c.198A>T
p.Glu66Asp (20)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6435
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
11
No. of bases:
1

Structural Information

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

Patient Information : Show


Factor IX Variant Database