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Search Results: 6 unique variants retrieved
c.244_250del
p.Arg83Metfs*? (37)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6481
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
7
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.247_248insT
p.Arg83Metfs*? (37)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6484
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.247_248insA
p.Arg83Lysfs*4 (37)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6484
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.248_250delGAA
p.Arg83del (37)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6485
Mutation Effect:
Inframe
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
3
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Inframe) of mutation at Exon 2.
Patient Information : Show
c.248_249insT
p.Arg83Serfs*? (37)
Mutation Type:
Insertion
Domain:
Gla
Nucleotide number:
6485
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.248G>T
p.Arg83Ile (37)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6485
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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