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  Search Results: 6 unique variants retrieved



  c.2095A>T
p.(Met699Leu) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > TTG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2095A>C
p.(Met699Leu) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > CTG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.2095A>G
p.(Met699Val) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

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  c.2096T>A
p.(Met699Lys) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > AAG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.2096T>C
p.(Met699Thr) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

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  c.2097G>A
p.(Met699Ile) (Legacy AA No.680)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show