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  Search Results: 3 unique variants retrieved



  c.6244A>G
p.(Ser2082Gly) (Legacy AA No.2063)
Variant Type:
Point
Domain:
C1
Sequence Context:
AGC > GGC
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6245G>A
p.(Ser2082Asn) (Legacy AA No.2063)
Variant Type:
Point
Domain:
C1
Sequence Context:
AGC > AAC
Variant Effect:
Missense
Location:
Exon 21
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


  c.6246C>G
p.(Ser2082Arg) (Legacy AA No.2063)
Variant Type:
Point
Domain:
C1
Sequence Context:
AGC > AGG
Variant Effect:
Missense
Location:
Exon 21
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