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Search Results: 2 unique variants retrieved
c.242_243insA
p.Glu82fs*? (36)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6479
Mutation Effect:
Frameshift
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 (Insertion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.245A>G
p.Glu82Gly (36)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6482
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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