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  Search Results: 5 unique variants retrieved



  c.855dupG
p.(His286Alafs*52) (Legacy AA No.267)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 7

Individual Case Information : Show


  c.856C>T
p.(His286Tyr) (Legacy AA No.267)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > TAC
Variant Effect:
Missense
Location:
Exon 7
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


  c.857A>G
p.(His286Arg) (Legacy AA No.267)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > CGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.857A>C
p.(His286Pro) (Legacy AA No.267)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > CCC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.858C>G
p.(His286Gln) (Legacy AA No.267)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > CAG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show