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	-