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Search Results: 5 unique variants retrieved
c.250A>G
p.Thr84Ala (38)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6487
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.250A>G
p.Thr84Ala (38)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6487
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.251C>G
p.Thr84Arg (38)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6488
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.251C>T
p.Thr84Ile (38)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6488
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
5
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.251C>A
p.Thr84Lys (38)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6488
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.