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  Search Results: 5 unique variants retrieved



  c.6355C>T
p.(Gln2119*) (Legacy AA No.2100)
Variant Type:
Point
Domain:
C1
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 22
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 (Point | Nonsense) of mutation at Exon 22

Individual Case Information : Show


  c.6355C>G
p.(Gln2119Glu) (Legacy AA No.2100)
Variant Type:
Point
Domain:
C1
Sequence Context:
CAG > GAG
Variant Effect:
Missense
Location:
Exon 22
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.6355_6356delCA
p.(Gln2119Valfs*6) (Legacy AA No.2100)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
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 (Deletion | Frameshift) of mutation at Exon 22

Individual Case Information : Show


  c.6356A>G
p.(Gln2119Arg) (Legacy AA No.2100)
Variant Type:
Point
Domain:
C1
Sequence Context:
CAG > CGG
Variant Effect:
Missense
Location:
Exon 22
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.6357_6361del
p.(Gln2119Hisfs*5) (Legacy AA No.2100)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
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 (Deletion | Frameshift) of mutation at Exon 22

Individual Case Information : Show