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

137 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55529108-G-A PCSK9 c.1930G>A p.Val644Ile Missense 12/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55523106-G-T PCSK9 c.1099G>T p.Asp367Tyr Missense 7/12 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
22-44285418-G-A PNPLA5 c.493C>T p.Arg165Cys Missense 4/9 -
1-55521713-C-A PCSK9 c.847C>A p.Leu283Met Missense 6/12 -
19-11231199-G-A LDLR c.2140+1G>A - IntronicSNV - 14/17
19-11227559-G-A LDLR c.1730G>A p.Trp577* Nonsense 12/18 -
19-11231164-G-A LDLR c.2106G>A p.Met702Ile Missense 14/18 -
1-55524244-G-A PCSK9 c.1427G>A p.Arg476His Missense 9/12 -
1-55523187-G-A PCSK9 c.1180G>A p.Gly394Ser Missense 7/12 -
1-55517953-G-C PCSK9 c.526G>C p.Gly176Arg Missense 4/12 -
1-55517953-G-A PCSK9 c.526G>A p.Gly176Arg Missense 4/12 -
1-55509522-T-G PCSK9 c.214T>G p.Trp72Gly Missense 2/12 -
19-11217352-G-A LDLR c.806G>A p.Gly269Asp Missense 5/18 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
19-11224296-G-A LDLR c.1444G>A p.Asp482Asn Missense 10/18 -
19-11231057-T-C LDLR c.1999T>C p.Cys667Arg Missense 14/18 -
19-11227560-G-A LDLR c.1731G>A p.Trp577* Nonsense 12/18 -
19-11231154-C-T LDLR c.2096C>T p.Pro699Leu Missense 14/18 -
1-55524262-A-G PCSK9 c.1445A>G p.Glu482Gly Missense 9/12 -
1-55524304-G-A PCSK9 c.1487G>A p.Arg496Gln Missense 9/12 -
2-21233500-A-T APOB c.6240T>A p.Tyr2080* Nonsense 26/29 -
19-11224228-C-G LDLR c.1376C>G p.Ala459Gly Missense 10/18 -
19-45397229-G-A TOMM40 c.549G>A p.Ser183Ser Synonymous 6/10 -
2-21235237-A-C APOB c.4503T>G p.Tyr1501* Nonsense 26/29 -
19-11200282-G-A LDLR c.58G>A p.Gly20Arg Missense 1/18 -
19-11231159-G-A LDLR c.2101G>A p.Gly701Ser Missense 14/18 -
19-11234010-G-A LDLR c.2301G>A p.Met767Ile Missense 15/18 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55524313-G-T PCSK9 c.1496G>T p.Arg499Leu Missense 9/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
19-11233961-G-A LDLR c.2252G>A p.Arg751Gln Missense 15/18 -
22-44287586-C-T PNPLA5 c.175G>A p.Val59Ile Missense 1/9 -
22-44287109-G-T PNPLA5 c.259C>A p.His87Asn Missense 2/9 -
19-11240240-G-A LDLR c.2441G>A p.Arg814Gln Missense 17/18 -
19-11218079-G-A LDLR c.829G>A p.Glu277Lys Missense 6/18 -
1-55509527-G-T PCSK9 c.219G>T p.Arg73Ser Missense 2/12 -
19-11227600-A-G LDLR c.1771A>G p.Asn591Asp Missense 12/18 -
1-55509527-G-C PCSK9 c.219G>C p.Arg73Ser Missense 2/12 -
1-55525298-C-A PCSK9 c.1643C>A p.Thr548Asn Missense 10/12 -
1-55512275-G-A PCSK9 c.479G>A p.Arg160Gln Missense 3/12 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
19-11224037-C-A LDLR c.1270C>A p.Pro424Thr Missense 9/18 -
19-11218068-T-G LDLR c.818T>G p.Val273Gly Missense 6/18 -
19-11216172-G-T LDLR c.590G>T p.Cys197Phe Missense 4/18 -
19-11238692-G-A LDLR c.2320G>A p.Asp774Asn Missense 16/18 -
19-11224284-G-A LDLR c.1432G>A p.Gly478Arg Missense 10/18 -
22-44285417-C-T PNPLA5 c.494G>A p.Arg165His Missense 4/9 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
19-11230798-G-A LDLR c.1876G>A p.Glu626Lys Missense 13/18 -
19-11216011-C-A LDLR c.429C>A p.Cys143* Nonsense 4/18 -
2-21235237-A-T APOB c.4503T>A p.Tyr1501* Nonsense 26/29 -
22-44285723-A-G PNPLA5 c.448T>C p.Phe150Leu Missense 3/9 -
1-55529159-G-A PCSK9 c.1981G>A p.Val661Ile Missense 12/12 -
1-55523178-C-A PCSK9 c.1171C>A p.His391Asn Missense 7/12 -
19-11234010-G-T LDLR c.2301G>T p.Met767Ile Missense 15/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
2-21255263-G-A APOB c.1315C>T p.Arg439* Nonsense 10/29 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -
1-55512266-A-G PCSK9 c.470A>G p.Asn157Ser Missense 3/12 -
1-55518362-G-T PCSK9 c.697G>T p.Val233Leu Missense 5/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Gln619Pro Missense 11/12 -
1-55518362-G-C PCSK9 c.697G>C p.Val233Leu Missense 5/12 -
2-21233706-G-A APOB c.6034C>T p.Arg2012* Nonsense 26/29 -
1-55524249-G-A PCSK9 c.1432G>A p.Ala478Thr Missense 9/12 -
1-55505679-G-A PCSK9 c.169G>A p.Glu57Lys Missense 1/12 -
1-55518386-G-A PCSK9 c.721G>A p.Val241Met Missense 5/12 -
19-11224398-G-A LDLR c.1546G>A p.Gly516Ser Missense 10/18 -
19-11216264-G-C LDLR c.682G>C p.Glu228Gln Missense 4/18 -
2-21228340-A-T APOB c.11400T>A p.Tyr3800* Nonsense 26/29 -
2-21249659-C-T APOB c.2244+1G>A - IntronicSNV - 15/28
19-11222295-C-T LDLR c.1166C>T p.Thr389Met Missense 8/18 -
22-44287165-C-A PNPLA5 c.203G>T p.Cys68Phe Missense 2/9 -
19-11216090-G-A LDLR c.508G>A p.Asp170Asn Missense 4/18 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
19-11223968-C-G LDLR c.1201C>G p.Leu401Val Missense 9/18 -
19-11221354-G-A LDLR c.967G>A p.Gly323Ser Missense 7/18 -
1-55518417-G-A PCSK9 c.752G>A p.Arg251His Missense 5/12 -
2-21237944-C-G APOB c.3696+1G>C - IntronicSNV - 23/28
22-44287051-G-A PNPLA5 c.317C>T p.Pro106Leu Missense 2/9 -
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
1-55529123-G-A PCSK9 c.1945G>A p.Ala649Thr Missense 12/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
2-21237384-C-A APOB c.3778G>T p.Glu1260* Nonsense 24/29 -
19-11211016-C-T LDLR c.185C>T p.Thr62Met Missense 2/18 -
19-11217256-G-A LDLR c.710G>A p.Arg237His Missense 5/18 -
19-11217304-G-A LDLR c.758G>A p.Arg253Gln Missense 5/18 -
19-11218157-C-T LDLR c.907C>T p.Arg303Trp Missense 6/18 -
19-11210979-G-T LDLR c.148G>T p.Ala50Ser Missense 2/18 -
22-44285379-C-T PNPLA5 c.532G>A p.Ala178Thr Missense 4/9 -
19-11234014-C-T LDLR c.2305C>T p.His769Tyr Missense 15/18 -
22-44287083-G-C PNPLA5 c.285C>G p.His95Gln Missense 2/9 -
22-44287083-G-T PNPLA5 c.285C>A p.His95Gln Missense 2/9 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
19-11217303-C-T LDLR c.757C>T p.Arg253Trp Missense 5/18 -
2-21249731-G-A APOB c.2173C>T p.Gln725* Nonsense 15/29 -
2-21228099-G-A APOB c.11641C>T p.Gln3881* Nonsense 26/29 -
1-55525301-G-A PCSK9 c.1646G>A p.Arg549His Missense 10/12 -
1-55523739-C-T PCSK9 c.1211C>T p.Pro404Leu Missense 8/12 -
19-11218160-G-A LDLR c.910G>A p.Asp304Asn Missense 6/18 -
1-55529153-C-T PCSK9 c.1975C>T p.Arg659Trp Missense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523076-C-T PCSK9 c.1069C>T p.Arg357Cys Missense 7/12 -
1-55509625-G-T PCSK9 c.317G>T p.Gly106Val Missense 2/12 -
22-44287133-C-A PNPLA5 c.235G>T p.Glu79* Nonsense 2/9 -
1-55529169-C-T PCSK9 c.1991C>T p.Thr664Ile Missense 12/12 -
1-55527221-C-T PCSK9 c.1855C>T p.Gln619* Nonsense 11/12 -
19-11222214-A-C LDLR c.1085A>C p.Asp362Ala Missense 8/18 -
19-11223991-G-C LDLR c.1224G>C p.Glu408Asp Missense 9/18 -
19-11223991-G-T LDLR c.1224G>T p.Glu408Asp Missense 9/18 -
22-44282210-C-T PNPLA5 c.922G>A p.Glu308Lys Missense 6/9 -
19-11240345-C-T LDLR c.2546C>T p.Ser849Leu Missense 17/18 -
1-55523838-C-A PCSK9 c.1310C>A p.Thr437Asn Missense 8/12 -
22-44287071-C-G PNPLA5 c.297G>C p.Gln99His Missense 2/9 -
22-44287071-C-A PNPLA5 c.297G>T p.Gln99His Missense 2/9 -
19-11217334-A-G LDLR c.788A>G p.Asp263Gly Missense 5/18 -
1-55521701-C-A PCSK9 c.835C>A p.Pro279Thr Missense 6/12 -
19-11227645-G-T LDLR c.1816G>T p.Ala606Ser Missense 12/18 -
1-55518419-G-A PCSK9 c.754G>A p.Val252Met Missense 5/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
19-11234010-G-C LDLR c.2301G>C p.Met767Ile Missense 15/18 -
2-21228340-A-C APOB c.11400T>G p.Tyr3800* Nonsense 26/29 -
1-55523822-G-A PCSK9 c.1294G>A p.Asp432Asn Missense 8/12 -
1-55524309-G-A PCSK9 c.1492G>A p.Glu498Lys Missense 9/12 -
19-11238684-C-T LDLR c.2312C>T p.Ala771Val Missense 16/18 -
19-11241984-G-A LDLR c.2575G>A p.Val859Met Missense 18/18 -
1-55525276-C-T PCSK9 c.1621C>T p.Pro541Ser Missense 10/12 -
1-55517960-G-A PCSK9 c.533G>A p.Ser178Asn Missense 4/12 -
19-11240309-A-G LDLR c.2510A>G p.His837Arg Missense 17/18 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
19-11217328-G-T LDLR c.782G>T p.Cys261Phe Missense 5/18 -
1-55512295-C-T PCSK9 c.499C>T p.Arg167Trp Missense 3/12 -
2-21235089-G-A APOB c.4651C>T p.Gln1551* Nonsense 26/29 -