300519 RESULTS
MUTATIONS APOE 45411016 GRCh37/hg19 G C Intron 2 Non-Coding Unknown, but predicted to alter splicing; predicted damaging in silico (PHRED-scaled CADD = 33). c.44-1G>C Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of ne
MUTATIONS APOE 45409912 GRCh37/hg19 rs144354013 A G Exon 2 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 0.3). T11A Hyperlipoproteinemia Type IIb This variant, located in the sequence coding for the signal peptide of the ApoE protein, was iden
MUTATIONS APOE 45411802 GRCh37/hg19 rs767980905 C T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 0.6). D83D Hyperlipoproteinemia Type IIa This synonymous variant was identified in a French patient in a cohort of nearly 6,000 unrelated
MUTATIONS APOE 45411858 GRCh37/hg19 rs11083750 C T Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 23). P102L Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individual
MUTATIONS APOE 45411962 GRCh37/hg19 rs573658040 C T Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 26). R137C Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individua
MUTATIONS APOE 45411963 GRCh37/hg19 rs11542035 G A Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 22). R137H Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individual
MUTATIONS APOE 45412016 GRCh37/hg19 rs1018669382 C T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 6). L155F Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individuals
MUTATIONS APOE 45412070 GRCh37/hg19 rs1239911444 C T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 8). L173L Hyperlipoproteinemia Type IIb This synonymous variant was identified in a French patient in a cohort of nearly 6,000 unrelated
MUTATIONS APOE 45412089 GRCh37/hg19 rs1421977676 T C Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 24). V179A Hyperlipoproteinemia Type IIb This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individu
MUTATIONS APOE 45412108 GRCh37/hg19 rs781722239 C T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 7). R185R Hyperlipoproteinemia Type IIa This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individuals
MUTATIONS APOE 45412191 GRCh37/hg19 T A Exon 4 Coding Unknown, but its PHRED-scaled CADD score (11) did not reach the commonly used threshold of 20 for predicting deleteriousness. V213E Hyperlipoproteinemia Type IIa This variant was identified in a French patient i
MUTATIONS APOE 45412204 GRCh37/hg19 rs72654468 C T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 6). A217A Hyperlipoproteinemia Type IIa This variant was identified in three unrelated French patients in a cohort of nearly 6,000 unrelate
MUTATIONS APOE 45412205 GRCh37/hg19 G T Exon 4 Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 7). G218C Hyperlipoproteinemia Type IIa This variant was identified in a French patient from a cohort of nearly 6,000 unrelated individuals with prima
MUTATIONS APOE 45412298 GRCh37/hg19 rs762906934 G A Exon 4 Coding Unknown; its PHRED-scaled CADD score (19.7) was very close to the commonly used threshold of 20 for predicting deleteriousness. E249K Hyperlipoproteinemia Type IIb This variant was identified in a Fr
MUTATIONS APOE 45412307 GRCh37/hg19 G A Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 22). E252K Hyperlipoproteinemia Type IIb This variant was identified in a French patient in a cohort of nearly 6,000 unrelated individuals with prim
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