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  Search Results: 3 unique variants retrieved



  c.1183A>G
p.(Lys395Glu) (Legacy AA No.376)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAG > GAG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1184A>G
p.(Lys395Arg) (Legacy AA No.376)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAG > AGG
Variant Effect:
Missense
Location:
Exon 8
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.1185G>C
p.(Lys395Asn) (Legacy AA No.376)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAG > AAC
Variant Effect:
Missense
Location:
Exon 8
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