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  Search Results: 3 unique variants retrieved



  c.103T>A
p.(Tyr35Asn) (Legacy AA No.16)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > AAT
Variant Effect:
Missense
Location:
Exon 1
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.103T>C
p.(Tyr35His) (Legacy AA No.16)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 1
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.104A>G
p.(Tyr35Cys) (Legacy AA No.16)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show