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  Search Results: 2 unique variants retrieved



  c.2005T>C
p.(Ser669Pro) (Legacy AA No.650)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCT > CCT
Variant Effect:
Missense
Location:
Exon 13
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.2006_2007delCT
p.(Ser669Cysfs*15) (Legacy AA No.650)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
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 (Deletion | Frameshift) of mutation at Exon 13

Individual Case Information : Show