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  Search Results: 6 unique variants retrieved



  c.648_649ins(10)
??? (Legacy AA No.198)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 5

Individual Case Information : Show


  c.649C>T
p.(Leu217Phe) (Legacy AA No.198)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.650T>G
p.(Leu217Arg) (Legacy AA No.198)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > CGT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.650_654del
p.(Leu217Argfs*4) (Legacy AA No.198)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 5
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 5

Individual Case Information : Show


  c.650T>A
p.(Leu217His) (Legacy AA No.198)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > CAT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.650T>C
p.(Leu217Pro) (Legacy AA No.198)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 5

Individual Case Information : Show