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  Search Results: 5 unique variants retrieved



  c.1408C>T
p.(Pro470Ser) (Legacy AA No.451)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > TCT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1408C>A
p.(Pro470Thr) (Legacy AA No.451)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > ACT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1409C>G
p.(Pro470Arg) (Legacy AA No.451)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1409C>T
p.(Pro470Leu) (Legacy AA No.451)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > CTT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1409delC
p.(Pro470Leufs*12) (Legacy AA No.451)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9

Individual Case Information : Show