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  Search Results: 3 unique variants retrieved



  c.5899G>C
p.(Gly1967Arg) (Legacy AA No.1948)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.5899G>A
p.(Gly1967Ser) (Legacy AA No.1948)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon 18
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.5900G>A
p.(Gly1967Asp) (Legacy AA No.1948)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show