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Search Results: 6 unique variants retrieved
c.217G>A
p.Glu73Lys (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6454
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.217G>T
p.Glu73* (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6454
Mutation Effect:
Nonsense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 2.
Patient Information : Show
c.218A>C
p.Glu73Ala (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6455
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.218A>T
p.Glu73Val (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6455
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.219A>C
p.Glu73Asp (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6456
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.219A>T
p.Glu73Asp (27)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6456
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.