PMID: 30333156

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal of lipid research
AS Geller, EY Polisecki, MR Diffenderfer, BF Asztalos, SK Karathanasis, RA Hegele, EJ Schaefer
2018-12

119 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-107665929-A-G ABCA1 c.32T>C p.Leu11Pro Missense 2/50 -
4-68447106-G-C STAP1 c.447G>C p.Arg149Ser Missense 5/9 -
16-67976606-C-T LCAT c.491G>A p.Arg164His Missense 4/6 -
9-107586851-C-T ABCA1 c.2551G>A p.Gly851Arg Missense 18/50 -
16-67974180-A-C LCAT c.950T>G p.Met317Arg Missense 6/6 -
16-67977846-C-T LCAT c.154+5G>A - IntronicSNV - 1/5
9-107582213-A-G ABCA1 c.3098T>C p.Leu1033Pro Missense 21/50 -
9-107555483-G-GC ABCA1 c.5604_5605insG p.Leu1869Alafs*22 Frameshift 41/50 -
9-107573080-C-A ABCA1 c.4175+1G>T - IntronicSNV - 29/49
9-107607760-C-A ABCA1 c.811G>T p.Glu271* Nonsense 8/50 -
11-116706940-TTCT-T APOA1 c.391_393delAAG p.Lys131delLys InFrameDeletion 4/4 -
9-107666239-G-A ABCA1 c.1-279C>T - IntronicSNV 1/50 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-67976585-C-T LCAT c.512G>A p.Arg171Gln Missense 4/6 -
11-116706919-C-A APOA1 c.409G>T p.Glu137* Nonsense 4/4 -
9-107593328-C-G ABCA1 c.1770G>C p.Trp590Cys Missense 14/50 -
9-107624031-G-A ABCA1 c.472C>T p.Leu158Leu Synonymous 6/50 -
16-67976969-C-T LCAT c.301G>A p.Asp101Asn Missense 2/6 -
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -
9-107566974-G-A ABCA1 c.4492C>T p.Gln1498* Nonsense 32/50 -
9-107602698-G-A ABCA1 c.916C>T p.Arg306Cys Missense 9/50 -
11-116707739-A-C APOA1 c.178T>G p.Ser60Ala Missense 3/4 -
9-107624029-C-A ABCA1 c.474G>T p.Leu158Leu Synonymous 6/50 -
9-107593324-C-A ABCA1 c.1774G>T p.Gly592Cys Missense 14/50 -
9-107588033-C-T ABCA1 c.2473G>A p.Val825Ile Missense 17/50 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
19-11213441-G-A LDLR c.292G>A p.Gly98Ser Missense 3/18 -
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
4-68447106-G-T STAP1 c.447G>T p.Arg149Ser Missense 5/9 -
9-107589255-C-G ABCA1 c.2311G>C p.Val771Leu Missense 16/50 -
9-107556776-T-G ABCA1 c.5398A>C p.Asn1800His Missense 40/50 -
19-11201366-G-A LDLR c.67+1075G>A - IntronicSNV - 1/17
9-107586835-CC-C ABCA1 c.2568delG p.Trp856Cysfs*40 Frameshift 18/50 -
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
16-67977909-G-GG LCAT c.101_101dupC p.His35Alafs*7 Frameshift 1/6 -
11-116660917-C-G APOA5 c.1028G>C p.Arg343Pro Missense 4/4 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
9-107594933-ACT-TGA ABCA1 c.1429_1431delAGTinsTGA p.Ser477* Nonsense 12/50 -
9-107594109-C-A ABCA1 c.1510-1G>T - IntronicSNV - 12/49
9-107588172-GTG-G ABCA1 c.2338-3_2338-2delCA - IntronicDeletion - 16/49
11-116706610-G-A APOA1 c.718C>T p.Gln240* Nonsense 4/4 -
9-107594917-T-G ABCA1 c.1447A>C p.Thr483Pro Missense 12/50 -
9-107581915-G-A ABCA1 c.3193C>T p.Pro1065Ser Missense 22/50 -
9-107555512-TT-T ABCA1 c.5577delA p.Val1861Trpfs*9 Frameshift 41/50 -
8-19805736-C-A LPL c.134C>A p.Thr45Asn Missense 2/10 -
10-16905500-C-T CUBN c.9454+6135G>A - IntronicSNV - 59/66
2-21231628-C-T APOB c.8112G>A p.Ala2704Ala Synonymous 26/29 -
2-21232128-G-A APOB c.7612C>T p.Leu2538Leu Synonymous 26/29 -
16-67974219-C-T LCAT c.911G>A p.Arg304His Missense 6/6 -
9-107567002-C-G ABCA1 c.4465-1G>C - IntronicSNV - 31/49
9-107593236-T-C ABCA1 c.1862A>G p.Gln621Arg Missense 14/50 -
16-67977904-G-A LCAT c.101C>T p.Pro34Leu Missense 1/6 -
15-58801943-A-T LIPC c.89-28589A>T - IntronicSNV - 1/8
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
16-67976794-AC-A LCAT c.397delG p.Val133Trpfs*131 Frameshift 3/6 -
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
9-107574868-C-T ABCA1 c.4037G>A p.Gly1346Glu Missense 28/50 -
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
9-107624029-C-T ABCA1 c.474G>A p.Leu158Leu Synonymous 6/50 -
9-107593339-G-A ABCA1 c.1759C>T p.Arg587Trp Missense 14/50 -
16-67976809-C-T LCAT c.382G>A p.Gly128Ser Missense 3/6 -
9-107624029-C-G ABCA1 c.474G>C p.Leu158Leu Synonymous 6/50 -
19-11224107-CC-AA LDLR c.1340_1341delCCinsAA p.Ser447* Nonsense 9/18 -
9-107568556-C-A ABCA1 c.4430G>T p.Cys1477Phe Missense 31/50 -
8-19810881-G-T LPL c.490G>T p.Ala164Ser Missense 4/10 -
9-107566948-C-T ABCA1 c.4518G>A p.Ser1506Ser Synonymous 32/50 -
2-44078950-C-T ABCG8 c.550C>T p.Arg184Cys Missense 4/13 -
9-107578515-C-A ABCA1 c.3647G>T p.Gly1216Val Missense 25/50 -
16-67976622-G-A LCAT c.475C>T p.Arg159Trp Missense 4/6 -
9-107547892-G-A ABCA1 c.6430C>T p.Arg2144* Nonsense 49/50 -
17-56356714-A-T MPO c.622T>A p.Ser208Thr Missense 5/12 -
9-107589238-C-G ABCA1 c.2328G>C p.Lys776Asn Missense 16/50 -
9-107550201-C-G ABCA1 c.6204G>C p.Leu2068Leu Synonymous 46/50 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
10-16905500-C-G CUBN c.9454+6135G>C - IntronicSNV - 59/66
4-68472059-A-G STAP1 c.872A>G p.Asn291Ser Missense 9/9 -
16-67973991-C-T LCAT c.1139G>A p.Cys380Tyr Missense 6/6 -
16-67974018-G-A LCAT c.1112C>T p.Thr371Met Missense 6/6 -
11-116706811-G-T APOA1 c.517C>A p.Arg173Ser Missense 4/4 -
15-58801943-A-G LIPC c.89-28589A>G - IntronicSNV - 1/8
9-107558340-G-A ABCA1 c.5376C>T p.Thr1792Thr Synonymous 39/50 -
9-107593329-C-A ABCA1 c.1769G>T p.Trp590Leu Missense 14/50 -
9-107620797-A-G ABCA1 c.720+6T>C - IntronicSNV - 7/49
16-67976320-A-T LCAT c.694T>A p.Ser232Thr Missense 5/6 -
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
2-21239364-G-C APOB c.3279C>G p.Thr1093Thr Synonymous 21/29 -
19-11230899-C-T LDLR c.1977C>T p.Thr659Thr Synonymous 13/18 -
9-107624242-A-G ABCA1 c.422-161T>C - IntronicSNV - 5/49
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
19-11230899-C-G LDLR c.1977C>G p.Thr659Thr Synonymous 13/18 -
19-11230899-C-A LDLR c.1977C>A p.Thr659Thr Synonymous 13/18 -
9-107579632-C-G ABCA1 c.3516G>C p.Glu1172Asp Missense 24/50 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
9-107666239-G-C ABCA1 c.1-279C>G - IntronicSNV 1/50 -
15-58855748-C-T LIPC c.1214C>T p.Thr405Met Missense 8/9 -
8-133899404-G-C TG c.1787G>C p.Gly596Ala Missense 9/48 -
9-107571786-G-C ABCA1 c.4235C>G p.Pro1412Arg Missense 30/50 -
16-67977895-G-A LCAT c.110C>T p.Thr37Met Missense 1/6 -
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
9-107549244-G-A ABCA1 c.6218C>T p.Thr2073Ile Missense 47/50 -
9-107593919-T-A ABCA1 c.1699A>T p.Asn567Tyr Missense 13/50 -
9-107556697-T-A ABCA1 c.5477A>T p.Gln1826Leu Missense 40/50 -
11-116707001-C-T APOA1 c.327G>A p.Glu109Glu Synonymous 4/4 -
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
16-67974007-G-A LCAT c.1123C>T p.Arg375Cys Missense 6/6 -
19-11210979-G-T LDLR c.148G>T p.Ala50Ser Missense 2/18 -
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
2-44071736-C-G ABCG8 c.154C>G p.Leu52Val Missense 2/13 -
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
9-107645381-G-A ABCA1 c.360C>T p.Thr120Thr Synonymous 5/50 -
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
2-21245889-G-A APOB c.2630C>T p.Pro877Leu Missense 18/29 -
16-67977101-C-G LCAT c.169G>C p.Gly57Arg Missense 2/6 -
9-107646756-G-A ABCA1 c.254C>T p.Pro85Leu Missense 4/50 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107594089-A-C ABCA1 c.1529T>G p.Leu510Arg Missense 13/50 -