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  Search Results: 3 unique variants retrieved



  c.1413dupC
p.(Leu472Profs*14) (Legacy AA No.453)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
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 (Duplication | Frameshift) of mutation at Exon 9

Individual Case Information : Show


  c.1414_1418delCTTTA
p.(Leu472Trpfs*12) (Legacy AA No.453)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
5
No. of cases reported:
11
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9

Individual Case Information : Show


  c.1415T>A
p.(Leu472His) (Legacy AA No.453)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 9
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 9

Individual Case Information : Show