PMID: 30333156

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

Journal of lipid research
Geller, Andrew S AS, Polisecki, Eliana Y EY, Diffenderfer, Margaret R MR, Asztalos, Bela F BF, Karathanasis, Sotirios K SK, Hegele, Robert A RA, Schaefer, Ernst J EJ
2018-12

114 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-107620867-C-T ABCA1 c.656G>A p.R219K Missense 7/50 -
19-11216264-G-T LDLR c.682G>T p.E228* Nonsense 4/18 -
9-107620835-G-A ABCA1 c.688C>T p.R230C Missense 7/50 -
16-57016092-G-A CETP c.1264G>A p.V422I Missense 14/16 -
16-57016092-G-C CETP c.1264G>C p.V422L Missense 14/16 -
9-107624029-C-G ABCA1 c.474G>C p.L158= Synonymous 6/50 -
8-19813529-A-G LPL c.953A>G p.N318S Missense 6/10 -
16-81534790-T-A CMIP c.300+55644T>A - IntronicSNV - 1/20
16-81534790-T-C CMIP c.300+55644T>C - IntronicSNV - 1/20
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
12-125261593-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
18-47109955-A-G LIPG c.1187A>G p.N396S Missense 8/10 -
11-116707739-A-C APOA1 c.178T>G p.S60A Missense 3/4 -
9-107593329-C-A ABCA1 c.1769G>T p.W590L Missense 14/50 -
9-107589255-C-T ABCA1 c.2311G>A p.V771M Missense 16/50 -
9-107579632-C-G ABCA1 c.3516G>C p.E1172D Missense 24/50 -
9-107579632-C-A ABCA1 c.3516G>T p.E1172D Missense 24/50 -
16-67976320-A-T LCAT c.694T>A p.S232T Missense 5/6 -
9-107589238-C-G ABCA1 c.2328G>C p.K776N Missense 16/50 -
11-116706934-ACTT-A APOA1 c.391_393delAAG p.K131del InFrameDeletion 4/4 -
19-11213441-G-A LDLR c.292G>A p.G98S Missense 3/18 -
9-107586753-T-C ABCA1 c.2649A>G p.I883M Missense 18/50 -
8-19810881-G-T LPL c.490G>T p.A164S Missense 4/10 -
9-107588033-C-T ABCA1 c.2473G>A p.V825I Missense 17/50 -
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
9-107624242-A-G ABCA1 c.422-161T>C - IntronicSNV - 5/49
9-107556776-T-G ABCA1 c.5398A>C p.N1800H Missense 40/50 -
16-67977846-C-T LCAT c.154+5G>A - IntronicSNV - 1/5
19-11224107-CC-AA LDLR c.1340_1341delCCinsAA p.S447* Nonsense 9/18 -
2-44071736-C-G ABCG8 c.154C>G p.L52V Missense 2/13 -
15-58855748-C-T LIPC c.1214C>T p.T405M Missense 8/9 -
16-67977904-G-A LCAT c.101C>T p.P34L Missense 1/6 -
16-67977895-G-A LCAT c.110C>T p.T37M Missense 1/6 -
16-67976969-C-T LCAT c.301G>A p.D101N Missense 2/6 -
16-67976606-C-T LCAT c.491G>A p.R164H Missense 4/6 -
16-67976585-C-T LCAT c.512G>A p.R171Q Missense 4/6 -
16-67974180-A-C LCAT c.950T>G p.M317R Missense 6/6 -
16-67977101-C-G LCAT c.169G>C p.G57R Missense 2/6 -
16-67976809-C-T LCAT c.382G>A p.G128S Missense 3/6 -
16-67976622-G-A LCAT c.475C>T p.R159W Missense 4/6 -
16-67974018-G-A LCAT c.1112C>T p.T371M Missense 6/6 -
16-67974219-C-T LCAT c.911G>A p.R304H Missense 6/6 -
16-67974007-G-A LCAT c.1123C>T p.R375C Missense 6/6 -
16-67973991-C-T LCAT c.1139G>A p.C380Y Missense 6/6 -
16-67977903-C-CG LCAT c.101dupC p.H35Afs*7 Frameshift 1/6 -
16-67976794-AC-A LCAT c.397delG p.V133Wfs*131 Frameshift 3/6 -
9-107646756-G-A ABCA1 c.254C>T p.P85L Missense 4/50 -
9-107620797-A-G ABCA1 c.720+6T>C - IntronicSNV - 7/49
9-107690402-G-A ABCA1 c.1-279C>T - IntronicSNV 1/50 -
9-107690402-G-C ABCA1 c.1-279C>G - IntronicSNV 1/50 -
19-11210979-G-T LDLR c.148G>T p.A50S Missense 2/18 -
2-21245889-G-A APOB c.2630C>T p.P877L Missense 18/29 -
9-107547892-G-A ABCA1 c.6430C>T p.R2144* Nonsense 49/50 -
9-107550201-C-G ABCA1 c.6204G>C p.L2068= Synonymous 46/50 -
9-107558340-G-A ABCA1 c.5376C>T p.T1792= Synonymous 39/50 -
9-107566948-C-T ABCA1 c.4518G>A p.S1506= Synonymous 32/50 -
9-107574868-C-T ABCA1 c.4037G>A p.G1346E Missense 28/50 -
9-107578515-C-A ABCA1 c.3647G>T p.G1216V Missense 25/50 -
9-107582213-A-G ABCA1 c.3098T>C p.L1033P Missense 21/50 -
9-107586851-C-T ABCA1 c.2551G>A p.G851R Missense 18/50 -
9-107589255-C-G ABCA1 c.2311G>C p.V771L Missense 16/50 -
9-107593324-C-A ABCA1 c.1774G>T p.G592C Missense 14/50 -
9-107593339-G-A ABCA1 c.1759C>T p.R587W Missense 14/50 -
9-107602698-G-A ABCA1 c.916C>T p.R306C Missense 9/50 -
9-107607760-C-A ABCA1 c.811G>T p.E271* Nonsense 8/50 -
9-107645381-G-A ABCA1 c.360C>T p.T120= Synonymous 5/50 -
9-107665929-A-G ABCA1 c.32T>C p.L11P Missense 2/50 -
15-58801943-A-G LIPC c.89-28589A>G - IntronicSNV - 1/8
15-58801943-A-T LIPC c.89-28589A>T - IntronicSNV - 1/8
9-107573080-C-A ABCA1 c.4175+1G>T - IntronicSNV - 29/49
19-11201366-G-A LDLR c.67+1075G>A - IntronicSNV - 1/17
10-16905500-C-G CUBN c.9454+6135G>C - IntronicSNV - 59/66
10-16905500-C-T CUBN c.9454+6135G>A - IntronicSNV - 59/66
9-107555510-CT-C ABCA1 c.5577delA p.V1861Wfs*9 Frameshift 41/50 -
19-11230899-C-A LDLR c.1977C>A p.T659= Synonymous 13/18 -
9-107571786-G-C ABCA1 c.4235C>G p.P1412R Missense 30/50 -
9-107593328-C-G ABCA1 c.1770G>C p.W590C Missense 14/50 -
9-107568556-C-A ABCA1 c.4430G>T p.C1477F Missense 31/50 -
9-107594917-T-G ABCA1 c.1447A>C p.T483P Missense 12/50 -
19-11230899-C-G LDLR c.1977C>G p.T659= Synonymous 13/18 -
11-116707001-C-T APOA1 c.327G>A p.E109= Synonymous 4/4 -
9-107566974-G-A ABCA1 c.4492C>T p.Q1498* Nonsense 32/50 -
9-107594089-A-C ABCA1 c.1529T>G p.L510R Missense 13/50 -
9-107593919-T-A ABCA1 c.1699A>T p.N567Y Missense 13/50 -
9-107556697-T-A ABCA1 c.5477A>T p.Q1826L Missense 40/50 -
9-107593236-T-C ABCA1 c.1862A>G p.Q621R Missense 14/50 -
9-107549244-G-A ABCA1 c.6218C>T p.T2073I Missense 47/50 -
2-44078950-C-T ABCG8 c.550C>T p.R184C Missense 4/13 -
11-116706919-C-A APOA1 c.409G>T p.E137* Nonsense 4/4 -
11-116706610-G-A APOA1 c.718C>T p.Q240* Nonsense 4/4 -
11-116706811-G-T APOA1 c.517C>A p.R173S Missense 4/4 -
2-21232128-G-A APOB c.7612C>T p.L2538= Synonymous 26/29 -
2-21231628-C-T APOB c.8112G>A p.A2704= Synonymous 26/29 -
2-21239364-G-C APOB c.3279C>G p.T1093= Synonymous 21/29 -
8-19805736-C-A LPL c.134C>A p.T45N Missense 2/10 -
4-68447106-G-C STAP1 c.447G>C p.R149S Missense 5/9 -
4-68447106-G-T STAP1 c.447G>T p.R149S Missense 5/9 -
19-11230899-C-T LDLR c.1977C>T p.T659= Synonymous 13/18 -
8-133899404-G-C TG c.1787G>C p.G596A Missense 9/48 -
9-107581915-G-A ABCA1 c.3193C>T p.P1065S Missense 22/50 -
17-56356714-A-T MPO c.622T>A p.S208T Missense 5/12 -
4-68472059-A-G STAP1 c.872A>G p.N291S Missense 9/9 -
9-107594933-ACT-TCA ABCA1 c.1429_1431delAGTinsTGA p.S477* Nonsense 12/50 -
9-107586833-AC-A ABCA1 c.2568delG p.W856Cfs*40 Frameshift 18/50 -
9-107555483-G-GC ABCA1 c.5604_5605insG p.L1869Afs*22 Frameshift 41/50 -