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  Search Results: 4 unique variants retrieved



  c.943delG
p.(Ala315Leufs*5) (Legacy AA No.296)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7

Individual Case Information : Show


  c.943G>T
p.(Ala315Ser) (Legacy AA No.296)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > TCT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.943G>A
p.(Ala315Thr) (Legacy AA No.296)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 7
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.944C>T
p.(Ala315Val) (Legacy AA No.296)
Variant Type:
Point
Domain:
A1
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show