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  Search Results: 7 unique variants retrieved



  c.1681G>A
p.(Asp561Asn) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > AAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1681G>C
p.(Asp561His) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1681G>T
p.(Asp561Tyr) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1682A>C
p.(Asp561Ala) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GCT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1682A>G
p.(Asp561Gly) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1682delA
p.(Asp561Valfs*2) (Legacy AA No.542)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
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 11

Individual Case Information : Show


  c.1683T>A
p.(Asp561Glu) (Legacy AA No.542)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 11
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