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Search Results: 221 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Insertion
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
10
No. of patients reported:
77
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Insertion | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Deletion
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
2
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
Flanking (5')
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at Flanking 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
UTR (5')
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at UTR 5'
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
promoter
Sequence Context:
Variant Effect:
Promoter
Location:
UTR (5')
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Promoter) of the variant at UTR 5'
Patient Information : Show
large del (Legacy AA No. -60)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Met1Val (Legacy AA No. -60)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Met1Ile (Legacy AA No. -60)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
ATG > ATC
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Gln4* (Legacy AA No. -57)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 1
Patient Information : Show
p.Leu6Serfs*41 (Legacy AA No. -55)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Cys10Profs*16 (Legacy AA No. -51)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
delCT
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
2
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Cys10Profs*16 (Legacy AA No. -51)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
delCT
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
2
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Leu12Pro (Legacy AA No. -49)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CCG > CTG
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Leu13Pro (Legacy AA No. -48)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CTT > CCT
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.
Patient Information : Show
p.Leu19Pro (Legacy AA No. -42)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (1)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1
Patient Information : Show
p.Gly22Ser (Legacy AA No. -39)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click
here
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Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1
Patient Information : Show
p.Gly22Gly (Legacy AA No. -38)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGT > GGC
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (1)
No of bases:
1
No. of patients reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1
Patient Information : Show
p.Val44Ile (Legacy AA No. -16)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (2)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (1)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 1
Patient Information : Show
p.Ala51Asp (Legacy AA No. -9)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GAC > GCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Val54Argfs*53 (Legacy AA No. -6)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 3
Patient Information : Show
p.Val54Ile (Legacy AA No. -6)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Arg59_Arg60dup ArgArg (Legacy AA No. 400)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
6
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Inframe) of the variant at Exon 3
Patient Information : Show
p.Arg60Cys (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
TGC > CGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click
here
to see if there is the available information.
Patient Information : Show
p.Arg60Gly (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Phe64Leu (Legacy AA No. 4)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Leu73Gln (Legacy AA No. 13)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CTG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
to see if there is the available information.
Patient Information : Show
p.Glu76Lys (Legacy AA No. 16)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Glu79Gln (Legacy AA No. 19)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Cys82Arg (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Cys82Phe (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Cys82Tyr (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Ser83Pro (Legacy AA No. 23)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Phe84del (Legacy AA No. 24)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
del TTC
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
3
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of the variant at Exon 3
Patient Information : Show
p.Glu85Lys (Legacy AA No. 25)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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here
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Patient Information : Show
p.Glu86* (Legacy AA No. 26)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 3
Patient Information : Show
p.Arg88Gly (Legacy AA No. 28)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGG > GGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Glu89Lys (Legacy AA No. 29)
Variant Type:
Point
Domain:
Gla
Sequence Context:
AAG > GAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click
here
to see if there is the available information.