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  Search Results: 3 unique variants retrieved



  c.6277G>C
p.(Asp2093His) (Legacy AA No.2074)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6277G>T
p.(Asp2093Tyr) (Legacy AA No.2074)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 22
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


  c.6278A>G
p.(Asp2093Gly) (Legacy AA No.2074)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show