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  Search Results: 3 unique variants retrieved



  c.1729T>C
p.(Ser577Pro) (Legacy AA No.558)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCT > CCT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1730C>T
p.(Ser577Phe) (Legacy AA No.558)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCT > TTT
Variant Effect:
Missense
Location:
Exon 11
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.1730C>A
p.(Ser577Tyr) (Legacy AA No.558)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCT > TAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show