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  Search Results: 2 unique variants retrieved



  c.6547A>G
p.(Met2183Val) (Legacy AA No.2164)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 23
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


  c.6548T>G
p.(Met2183Arg) (Legacy AA No.2164)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATG > AGG
Variant Effect:
Missense
Location:
Exon 23
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