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  Search Results: 2 unique variants retrieved



  c.640dupT
p.(Ile215Tyrfs*9) (Legacy AA No.196)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 5
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 5

Individual Case Information : Show


  c.645A>G
p.(Ile215Met) (Legacy AA No.196)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATA > ATG
Variant Effect:
Missense
Location:
Exon 5
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