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  Search Results: 3 unique variants retrieved



  c.553A>G
p.(Lys185Glu) (Legacy AA No.166)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.554A>C
p.(Lys185Thr) (Legacy AA No.166)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > ACA
Variant Effect:
Missense
Location:
Exon 4
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.555A>T
p.(Lys185Asn) (Legacy AA No.166)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > AAT
Variant Effect:
Missense
Location:
Exon 4
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