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  Search Results: 6 unique variants retrieved



  c.556G>A
p.(Asp186Asn) (Legacy AA No.167)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.556G>C
p.(Asp186His) (Legacy AA No.167)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > CAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.556G>T
p.(Asp186Tyr) (Legacy AA No.167)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.557A>G
p.(Asp186Gly) (Legacy AA No.167)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GGC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.557_559delACT
p.(Asp186_Leu187delinsVal) (Legacy AA No.167)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 4
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 4

Individual Case Information : Show


  c.558C>A
p.(Asp186Glu) (Legacy AA No.167)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GAA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show