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  Search Results: 3 unique variants retrieved



  c.655G>C
p.(Ala219Pro) (Legacy AA No.200)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 5
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.655G>A
p.(Ala219Thr) (Legacy AA No.200)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
18
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.656C>A
p.(Ala219Asp) (Legacy AA No.200)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > GAT
Variant Effect:
Missense
Location:
Exon 5
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