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  Search Results: 2 unique variants retrieved



  c.5843T>G
p.(Leu1948Arg) (Legacy AA No.1929)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTA > CGA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5843T>C
p.(Leu1948Pro) (Legacy AA No.1929)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTA > CCA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
12
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show