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  Search Results: 3 unique variants retrieved



  c.5524A>C
p.(Met1842Leu) (Legacy AA No.1823)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > CTG
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5524A>G
p.(Met1842Val) (Legacy AA No.1823)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 16
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.5526G>A
p.(Met1842Ile) (Legacy AA No.1823)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show