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  Search Results: 5 unique variants retrieved



  c.5392dupG
p.(Ala1798Glyfs*10) (Legacy AA No.1779)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 (Duplication | Frameshift) of mutation at Exon 16

Individual Case Information : Show


  c.5392G>C
p.(Ala1798Pro) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > CCC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5392G>T
p.(Ala1798Ser) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 16

Individual Case Information : Show


  c.5392G>A
p.(Ala1798Thr) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > ACC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5393C>T
p.(Ala1798Val) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon 16
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