Table 2 Unique CNVs observed identified across 3262 samples using the LipidSeq panel
Gene | CNV state | Regions affected | Instances observed | Related publication |
|---|---|---|---|---|
ABCA1 | 5’UTR – 3’UTR | Deletion (het) | 1 | [39] |
Exons 47–48 | Deletion (het) | 1 | ||
Exons 8–31 | Deletion (het) | 2 | [39] | |
Exons 4–7 | Duplication | 1 | ||
Exon 4 | Deletion (het) | 1 | [39] | |
ABCG1 | Non-coding exon 1–3’UTR | Duplication | 2 | |
ABCG8 | Exons 4–6 | Duplication | 3 | |
AGPAT2 | Exons 2–4 | Deletion (het) | 1 | |
5’UTR – exon 1 | Deletion (het) | 1 | ||
ANGPTL3 | Exon 3–3’UTR | Deletion (het) | 1 | |
APOA5 | 5’UTR – 3’UTR | Deletion (het) | 1 | |
APOA5 and APOA4 | 5’UTR – 3’UTR, 5’UTR – 3’UTR | Duplication | 1 | |
APOB | 5’UTR – 3’UTR | Duplication | 1 | |
APOC2 | Non-coding exon 1 | Deletion (hom) | 1 | |
BLK | Exon 2–3’UTR | Duplication | 29 | |
Exon 10 | Duplication | 1 | ||
CAV2 | 5’UTR – exon 1 | Duplication | 1 | |
CETP | 5’UTR – exon 2 | Deletion (het) | 1 | |
CIDEC | Exon 4–3’UTR | Deletion (het) | 1 | |
Alternative non-coding exon 1a | Deletion (het) | 3 | ||
CREB3L3 | 5’UTR – exon 2 | Deletion (het) | 1 | |
5’UTR – 3’UTR | Duplication | 2 | ||
Exons 3–4 | Deletion (het) | 1 | ||
Exon 5 | Deletion (het) | 1 | ||
GCK | 5’UTR – alternative exon 1 | Deletion (het) | 5 | [40] |
5’UTR – alternative exon 1 | Duplication | 1 | ||
GPIHBP1 | 5’UTR – 3’UTR | Deletion (hom) | 3 | |
Exons 3–4 | Deletion (het) | 3 | ||
HNF1B | 5’UTR – 3’UTR | Deletion (het) | 3 | |
HNF4A | 5’UTR – exon 1 | Deletion (het) | 1 | |
5’UTR – 3’UTR | Deletion (het) | 1 | [41] | |
LDLR | 5’UTR – exon 1 | Deletion (het) | 1 | [32] |
5’UTR – intron 1 | Deletion (het) | 33 | [32] | |
5’UTR – exon 2 | Deletion (het) | 3 | [32] | |
5’UTR – exon 6 | Deletion (het) | 1 | [32] | |
Exons 2–3 | Deletion (het) | 1 | [32] | |
Exons 2–6 | Duplication | 1 | [32] | |
Exons 2–6 | Deletion (het) | 10 | [32] | |
Exons 3–6 | Deletion (het) | 4 | [32] | |
Exons 4–6 | Deletion (het) | 1 | ||
Exons 5–6 | Deletion (het) | 1 | [32] | |
Exon 7 | Duplication | 1 | [32] | |
Exons 9–10 | Deletion (het) | 1 | ||
Exons 11–12 * | Duplication | 1 | [32] | |
Exons 11–12 * | Duplication | 1 | [32] | |
Exons 11–12 | Deletion (het) | 1 | [32] | |
Exons 13–14 | Deletion (het) | 1 | [32] | |
Exons 13–15 | Deletion (het) | 1 | [32] | |
Exon 16–3’UTR | Deletion (het) | 1 | [32] | |
Exon 17–3’UTR | Deletion (het) | 5 | [32] | |
Exons 18–3’UTR | Deletion (het) | 1 | [32] | |
LDLRAP1 | 5’UTR – exon 1 | Duplication | 1 | |
LIPA | Exon 9–3’UTR | Deletion (het) | 1 | |
Exon 4 | Deletion (het) | 2 | ||
LIPC | 5’UTR – exon 1 | Deletion (het) | 6 | |
LMF1 | Exon 6 | Deletion (het) | 2 | |
LPIN1 | Exons 2–4 | Deletion (het) | 1 | |
Alternative exon 6 | Deletion (het) | 1 | ||
Exon 18 | Deletion (het) | 3 | ||
Exons 18–19 | Deletion (het) | 1 | ||
LPL | 5’UTR – exon 1 | Deletion (het) | 1 | [42] |
5’UTR – exon 2 | Deletion (het) | 3 | [42] | |
MFN2 | Exons 4–6 | Duplication | 1 | |
MTTP | 5’UTR – 3’UTR | Deletion (het) | 1 | |
Exon 10 | Deletion (het) | 1 | ||
Exons 10–15 | Deletion (hom ×2, het) | 3 | ||
NPC1L1 | Exons 6–10 | Deletion (het) | 1 | |
PCSK9 | 5’UTR – 3’UTR | Duplication | 5 | [43] |
PLIN1 | Exon 3–3’UTR | Duplication | 1 | |
Exon 8 | Deletion (het) | 2 | ||
Exon 2 | Deletion (het) | 1 | ||
PNPLA2 | 5’UTR – 3’UTR | Duplication | 1 | |
POLD1 | 5’UTR | Duplication | 2 | |
PPARA | Alternative non-coding exon 1–3’UTR | Duplication | 1 | |
WRN | Exon 3 | Deletion (het) | 1 | |
Exons 9–11 | Deletion (het) | 1 | ||
Exon 10 | Duplication | 1 |