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  Search Results: 6 unique variants retrieved



  c.5398C>T
p.(Arg1800Cys) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > TGT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
21
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5398C>G
p.(Arg1800Gly) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > GGT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5398C>A
p.(Arg1800Ser) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 16

Individual Case Information : Show


  c.5399G>A
p.(Arg1800His) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > CAT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
76
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5399G>T
p.(Arg1800Leu) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > CTT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5399G>C
p.(Arg1800Pro) (Legacy AA No.1781)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > CCT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show