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  Search Results: 2 unique variants retrieved



  c.5813A>G
p.(His1938Arg) (Legacy AA No.1919)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5813A>T
p.(His1938Leu) (Legacy AA No.1919)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CTT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show