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  Search Results: 3 unique variants retrieved



  c.436A>T
p.(Lys146*) (Legacy AA No.127)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Nonsense
Location:
Exon 4
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 (Point | Nonsense ) of mutation at Exon 4

Individual Case Information : Show


  c.436A>G
p.(Lys146Glu) (Legacy AA No.127)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 4
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.437A>C
p.(Lys146Thr) (Legacy AA No.127)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > ACA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show