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Search Results: 5 unique variants retrieved
c.200delA
p.Lys68Serfs*? (22)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6437
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 (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.203delA
p.Lys68Serfs*36 (22)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6440
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 (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.203A>G
p.Lys68Arg (22)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6440
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.204delG
p.Lys68Asnfs*? (22)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6441
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 (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.204delG
p.Lys68Asnfs*36 (22)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6441
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 (Deletion | Frameshift) of mutation at Exon 2.