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  Search Results: 2 unique variants retrieved



  c.2047T>A
p.(Tyr683Asn) (Legacy AA No.664)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > AAT
Variant Effect:
Missense
Location:
Exon 13
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.2048A>G
p.(Tyr683Cys) (Legacy AA No.664)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
22
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show