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  Search Results: 3 unique variants retrieved



  c.1213A>T
p.(Ile405Phe) (Legacy AA No.386)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1214T>G
p.(Ile405Ser) (Legacy AA No.386)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATT > AGT
Variant Effect:
Missense
Location:
Exon 8
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.1214T>C
p.(Ile405Thr) (Legacy AA No.386)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATT > ACT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show