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  Search Results: 3 unique variants retrieved



  c.5158G>A
p.(Ala1720Thr) (Legacy AA No.1701)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5159C>A
p.(Ala1720Asp) (Legacy AA No.1701)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCT > GAT
Variant Effect:
Missense
Location:
Exon 14
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.5159C>T
p.(Ala1720Val) (Legacy AA No.1701)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 14
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