PMID: 35294538

Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

JAMA network open
Fahed, Akl C AC, Wang, Minxian M, Patel, Aniruddh P AP, Ajufo, Ezimamaka E, Maamari, Dimitri J DJ, Aragam, Krishna G KG, Brockman, Deanna G DG, Vosburg, Trish T, Ellinor, Patrick T PT, Ng, Kenney K, Khera, Amit V AV
2022-03-01

56 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11231095-T-A LDLR c.2037T>A p.Y679* Nonsense 14/18 -
19-11213415-G-A LDLR c.266G>A p.C89Y Missense 3/18 -
19-11226817-G-A LDLR c.1634G>A p.G545E Missense 11/18 -
19-11218162-C-G LDLR c.912C>G p.D304E Missense 6/18 -
19-11218162-C-A LDLR c.912C>A p.D304E Missense 6/18 -
19-11213462-TCG-T LDLR c.313_313+1delCG - SpliceDonorDeletion 3/18 3/17
19-11231095-T-G LDLR c.2037T>G p.Y679* Nonsense 14/18 -
19-11216146-C-A LDLR c.564C>A p.Y188* Nonsense 4/18 -
19-11216146-C-G LDLR c.564C>G p.Y188* Nonsense 4/18 -
19-11226820-G-T LDLR c.1637G>T p.G546V Missense 11/18 -
19-11227549-C-T LDLR c.1720C>T p.R574C Missense 12/18 -
19-11216237-TGGC-T LDLR c.655_657delGGC p.G219del InFrameDeletion 4/18 -
19-11224266-G-T LDLR c.1414G>T p.D472Y Missense 10/18 -
19-11213359-CG-C LDLR c.214delG p.D72Tfs*134 Frameshift 3/18 -
19-11210949-CA-C LDLR c.118delA p.I40Sfs*166 Frameshift 2/18 -
19-11216262-GAC-G LDLR c.680_681delAC p.D227Gfs*12 Frameshift 4/18 -
19-11213452-AG-A LDLR c.303delG p.E101Dfs*105 Frameshift 3/18 -
19-11226815-AG-A LDLR c.1637delG p.G546Afs*2 Frameshift 11/18 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
19-11224052-G-A LDLR c.1285G>A p.V429M Missense 9/18 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-11216264-G-T LDLR c.682G>T p.E228* Nonsense 4/18 -
19-11216263-C-A LDLR c.681C>A p.D227E Missense 4/18 -
19-11216263-C-G LDLR c.681C>G p.D227E Missense 4/18 -
19-11221414-G-A LDLR c.1027G>A p.G343S Missense 7/18 -
19-11217344-T-G LDLR c.798T>G p.D266E Missense 5/18 -
19-11223989-G-A LDLR c.1222G>A p.E408K Missense 9/18 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
19-11230820-G-A LDLR c.1898G>A p.R633H Missense 13/18 -
19-11213390-C-T LDLR c.241C>T p.R81C Missense 3/18 -
19-11217344-T-A LDLR c.798T>A p.D266E Missense 5/18 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
19-11217264-G-A LDLR c.718G>A p.E240K Missense 5/18 -
19-11227612-C-T LDLR c.1783C>T p.R595W Missense 12/18 -
19-11230819-C-T LDLR c.1897C>T p.R633C Missense 13/18 -
19-11215919-G-A LDLR c.337G>A p.E113K Missense 4/18 -
19-11221390-G-A LDLR c.1003G>A p.G335S Missense 7/18 -
19-11231112-C-T LDLR c.2054C>T p.P685L Missense 14/18 -
19-11224326-G-A LDLR c.1474G>A p.D492N Missense 10/18 -
19-11224419-G-A LDLR c.1567G>A p.V523M Missense 10/18 -
19-11224296-G-A LDLR c.1444G>A p.D482N Missense 10/18 -
19-11213450-G-A LDLR c.301G>A p.E101K Missense 3/18 -
19-11213408-T-G LDLR c.259T>G p.W87G Missense 3/18 -
19-11216083-C-A LDLR c.501C>A p.C167* Nonsense 4/18 -
19-11213463-G-C LDLR c.313+1G>C - IntronicSNV - 3/17
19-11224443-G-A LDLR c.1586+5G>A - IntronicSNV - 10/17
19-11216244-A-G LDLR c.662A>G p.D221G Missense 4/18 -
19-11216084-G-A LDLR c.502G>A p.D168N Missense 4/18 -
19-11216133-G-A LDLR c.551G>A p.C184Y Missense 4/18 -
19-11221435-C-T LDLR c.1048C>T p.R350* Nonsense 7/18 -
19-11218112-G-A LDLR c.862G>A p.E288K Missense 6/18 -
19-11223983-C-T LDLR c.1216C>T p.R406W Missense 9/18 -
19-11226820-G-A LDLR c.1637G>A p.G546D Missense 11/18 -