PMID: 24507775

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American journal of human genetics
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,
2014-02-06

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524313-G-T PCSK9 c.1496G>T p.Arg499Leu Missense 9/12 -
1-55524244-G-A PCSK9 c.1427G>A p.Arg476His Missense 9/12 -
19-45397229-G-A TOMM40 c.549G>A p.Ser183Ser Synonymous 6/10 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55523187-G-A PCSK9 c.1180G>A p.Gly394Ser Missense 7/12 -
1-55524309-G-A PCSK9 c.1492G>A p.Glu498Lys Missense 9/12 -
1-55527221-C-T PCSK9 c.1855C>T p.Gln619* Nonsense 11/12 -
1-55512266-A-G PCSK9 c.470A>G p.Asn157Ser Missense 3/12 -
1-55529169-C-T PCSK9 c.1991C>T p.Thr664Ile Missense 12/12 -
1-55518386-G-A PCSK9 c.721G>A p.Val241Met Missense 5/12 -
1-55509522-T-G PCSK9 c.214T>G p.Trp72Gly Missense 2/12 -