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  Search Results: 3 unique variants retrieved



  c.2053G>A
p.(Asp685Asn) (Legacy AA No.666)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon 13
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.2054A>G
p.(Asp685Gly) (Legacy AA No.666)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GGC
Variant Effect:
Missense
Location:
Exon 13
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.2054A>T
p.(Asp685Val) (Legacy AA No.666)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GTC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show