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  Search Results: 5 unique variants retrieved



  c.760A>G
p.(Asn254Asp) (Legacy AA No.235)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > GAT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.760A>T
p.(Asn254Tyr) (Legacy AA No.235)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > TAT
Variant Effect:
Missense
Location:
Exon 6
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.761A>T
p.(Asn254Ile) (Legacy AA No.235)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > ATT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.761A>G
p.(Asn254Ser) (Legacy AA No.235)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > AGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.761A>C
p.(Asn254Thr) (Legacy AA No.235)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > ACT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show