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  Search Results: 5 unique variants retrieved



  c.331G>C
p.(Ala111Pro) (Legacy AA No.92)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.331G>T
p.(Ala111Ser) (Legacy AA No.92)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > TCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.331G>A
p.(Ala111Thr) (Legacy AA No.92)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.332C>G
p.(Ala111Gly) (Legacy AA No.92)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > GGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.332C>T
p.(Ala111Val) (Legacy AA No.92)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 3
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