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  Search Results: 3 unique variants retrieved



  c.6238G>A
p.(Ala2080Thr) (Legacy AA No.2061)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > ACC
Variant Effect:
Missense
Location:
Exon 21
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6239C>A
p.(Ala2080Asp) (Legacy AA No.2061)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > GAC
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


  c.6239C>T
p.(Ala2080Val) (Legacy AA No.2061)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon 21
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