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  Search Results: 6 unique variants retrieved



  c.199A>T
p.(Lys67*) (Legacy AA No.48)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAG > TAG
Variant Effect:
Nonsense
Location:
Exon 2
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 | Nonsense) of mutation at Exon 2

Individual Case Information : Show


  c.199_200delAA
p.(Lys67Aspfs*15) (Legacy AA No.48)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2

Individual Case Information : Show


  c.199A>G
p.(Lys67Glu) (Legacy AA No.48)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAG > GAG
Variant Effect:
Missense
Location:
Exon 2
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.200A>C
p.(Lys67Thr) (Legacy AA No.48)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAG > ACG
Variant Effect:
Missense
Location:
Exon 2
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.201G>C
p.(Lys67Asn) (Legacy AA No.48)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAG > AAC
Variant Effect:
Missense
Location:
Exon 2
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.201G>T
p.(Lys67Asn) (Legacy AA No.48)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAG > AAT
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show