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  Search Results: 5 unique variants retrieved



  c.6835T>A
p.(Phe2279Ile) (Legacy AA No.2260)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTC > ATC
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6835T>C
p.(Phe2279Leu) (Legacy AA No.2260)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon 25
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.6836T>G
p.(Phe2279Cys) (Legacy AA No.2260)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTC > TGC
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6836T>C
p.(Phe2279Ser) (Legacy AA No.2260)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTC > TCC
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6837C>A
p.(Phe2279Leu) (Legacy AA No.2260)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTC > TTA
Variant Effect:
Missense
Location:
Exon 25
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