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Search Results: 8 unique variants retrieved
c.185_188delAGAG
p.Glu63Asnfs*41 (17)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6422
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.187G>A
p.Glu63Lys (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6424
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.187G>C
p.Glu63Gln (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6424
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.188A>C
p.Glu63Ala (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6425
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.
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c.188A>G
p.Glu63Gly (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6425
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
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c.188A>T
p.Glu63Val (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6425
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.189A>C
p.Glu63Asp (17)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6426
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
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.189A>G
p.Glu63Glu (17)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6426
Mutation Effect:
Silent
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 (Polymorphism | Silent) of mutation at Exon 2.