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  Search Results: 4 unique variants retrieved



  c.5938C>G
p.(His1980Asp) (Legacy AA No.1961)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > GAT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5938C>T
p.(His1980Tyr) (Legacy AA No.1961)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > TAT
Variant Effect:
Missense
Location:
Exon 18
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.5939A>G
p.(His1980Arg) (Legacy AA No.1961)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5939A>C
p.(His1980Pro) (Legacy AA No.1961)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CCT
Variant Effect:
Missense
Location:
Exon 18
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