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  Search Results: 3 unique variants retrieved



  c.430G>A
p.(Asp144Asn) (Legacy AA No.125)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > AAT
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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  c.430G>T
p.(Asp144Tyr) (Legacy AA No.125)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 4
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.431A>C
p.(Asp144Asn) (Legacy AA No.125)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GCT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show