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  Search Results: 5 unique variants retrieved



  c.985dupT
p.(Cys329Leufs*9) (Legacy AA No.310)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
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.985T>A
p.(Cys329Ser) (Legacy AA No.310)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > AGT
Variant Effect:
Missense
Location:
Exon 7
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


  c.986G>T
p.(Cys329Phe) (Legacy AA No.310)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > TTT
Variant Effect:
Missense
Location:
Exon 7
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.986G>C
p.(Cys329Ser) (Legacy AA No.310)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > TCT
Variant Effect:
Missense
Location:
Exon 7
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.986G>A
p.(Cys329Tyr) (Legacy AA No.310)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 7
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