PMID: 27050191

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal of the American College of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
2016-06-07

87 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11215992-G-T LDLR c.410G>T p.Gly137Val Missense 4/18 -
19-11216102-G-T LDLR c.520G>T p.Glu174* Nonsense 4/18 -
19-11215991-G-A LDLR c.409G>A p.Gly137Ser Missense 4/18 -
19-11224326-G-A LDLR c.1474G>A p.Asp492Asn Missense 10/18 -
19-11224024-C-A LDLR c.1257C>A p.Tyr419* Nonsense 9/18 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
19-11221366-C-T LDLR c.979C>T p.His327Tyr Missense 7/18 -
19-11222190-A-G LDLR c.1061A>G p.Asp354Gly Missense 8/18 -
19-11221354-G-A LDLR c.967G>A p.Gly323Ser Missense 7/18 -
19-11215908-G-A LDLR c.326G>A p.Cys109Tyr Missense 4/18 -
19-11213418-A-G LDLR c.269A>G p.Asp90Gly Missense 3/18 -
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
19-11224005-C-T LDLR c.1238C>T p.Thr413Met Missense 9/18 -
19-11210974-G-A LDLR c.143G>A p.Gly48Asp Missense 2/18 -
19-11215937-G-C LDLR c.355G>C p.Gly119Arg Missense 4/18 -
19-11211016-C-T LDLR c.185C>T p.Thr62Met Missense 2/18 -
19-11226781-G-A LDLR c.1598G>A p.Trp533* Nonsense 11/18 -
19-11224066-C-G LDLR c.1299C>G p.Asp433Glu Missense 9/18 -
19-11215937-G-A LDLR c.355G>A p.Gly119Arg Missense 4/18 -
19-11218138-C-A LDLR c.888C>A p.Cys296* Nonsense 6/18 -
19-11230888-C-A LDLR c.1966C>A p.His656Asn Missense 13/18 -
19-11221390-G-A LDLR c.1003G>A p.Gly335Ser Missense 7/18 -
19-11221435-C-T LDLR c.1048C>T p.Arg350* Nonsense 7/18 -
19-11222305-C-A LDLR c.1176C>A p.Cys392* Nonsense 8/18 -
19-11231198-G-T LDLR c.2140G>T p.Glu714* Nonsense 14/18 -
19-11224354-C-T LDLR c.1502C>T p.Ala501Val Missense 10/18 -
19-11221406-G-T LDLR c.1019G>T p.Cys340Phe Missense 7/18 -
19-11227549-C-T LDLR c.1720C>T p.Arg574Cys Missense 12/18 -
19-11240239-C-T LDLR c.2440C>T p.Arg814Trp Missense 17/18 -
19-11215995-C-A LDLR c.413C>A p.Ser138* Nonsense 4/18 -
19-11234017-C-T LDLR c.2308C>T p.Gln770* Nonsense 15/18 -
19-11218096-C-G LDLR c.846C>G p.Phe282Leu Missense 6/18 -
19-11218096-C-A LDLR c.846C>A p.Phe282Leu Missense 6/18 -
19-11224061-C-G LDLR c.1294C>G p.Leu432Val Missense 9/18 -
19-11227576-C-T LDLR c.1747C>T p.His583Tyr Missense 12/18 -
19-11223983-C-T LDLR c.1216C>T p.Arg406Trp Missense 9/18 -
19-11218148-A-G LDLR c.898A>G p.Arg300Gly Missense 6/18 -
19-11227576-C-G LDLR c.1747C>G p.His583Asp Missense 12/18 -
19-11223962-G-A LDLR c.1195G>A p.Ala399Thr Missense 9/18 -
19-11221391-G-A LDLR c.1004G>A p.Gly335Asp Missense 7/18 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
19-11224296-G-A LDLR c.1444G>A p.Asp482Asn Missense 10/18 -
19-11224019-G-A LDLR c.1252G>A p.Glu418Lys Missense 9/18 -
19-11218094-T-C LDLR c.844T>C p.Phe282Leu Missense 6/18 -
19-11216000-G-T LDLR c.418G>T p.Glu140* Nonsense 4/18 -
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11227603-G-A LDLR c.1774G>A p.Gly592Arg Missense 12/18 -
19-11210928-C-T LDLR c.97C>T p.Gln33* Nonsense 2/18 -
19-11231154-C-T LDLR c.2096C>T p.Pro699Leu Missense 14/18 -
19-11227603-G-C LDLR c.1774G>C p.Gly592Arg Missense 12/18 -
19-11231057-T-C LDLR c.1999T>C p.Cys667Arg Missense 14/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11218077-G-C LDLR c.827G>C p.Cys276Ser Missense 6/18 -
19-11213453-C-T LDLR c.304C>T p.Gln102* Nonsense 3/18 -
19-11216112-C-T LDLR c.530C>T p.Ser177Leu Missense 4/18 -
19-11221334-A-G LDLR c.947A>G p.Asn316Ser Missense 7/18 -
19-11222295-C-T LDLR c.1166C>T p.Thr389Met Missense 8/18 -
19-11226801-G-A LDLR c.1618G>A p.Ala540Thr Missense 11/18 -
19-11227613-G-A LDLR c.1784G>A p.Arg595Gln Missense 12/18 -
19-11227645-G-T LDLR c.1816G>T p.Ala606Ser Missense 12/18 -
19-11227590-C-A LDLR c.1761C>A p.Ser587Arg Missense 12/18 -
19-11227590-C-G LDLR c.1761C>G p.Ser587Arg Missense 12/18 -
19-11224419-G-A LDLR c.1567G>A p.Val523Met Missense 10/18 -
1-55518037-G-A PCSK9 c.610G>A p.Asp204Asn Missense 4/12 -
19-11226829-G-A LDLR c.1646G>A p.Gly549Asp Missense 11/18 -
19-11216090-G-A LDLR c.508G>A p.Asp170Asn Missense 4/18 -
19-11224024-C-G LDLR c.1257C>G p.Tyr419* Nonsense 9/18 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11231084-G-A LDLR c.2026G>A p.Gly676Ser Missense 14/18 -
19-11227588-A-C LDLR c.1759A>C p.Ser587Arg Missense 12/18 -
19-11216264-G-T LDLR c.682G>T p.Glu228* Nonsense 4/18 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -
19-11224066-C-A LDLR c.1299C>A p.Asp433Glu Missense 9/18 -
19-11216011-C-A LDLR c.429C>A p.Cys143* Nonsense 4/18 -
19-11226782-G-A LDLR c.1599G>A p.Trp533* Nonsense 11/18 -
19-11224422-G-A LDLR c.1570G>A p.Val524Met Missense 10/18 -
19-11210970-G-A LDLR c.139G>A p.Asp47Asn Missense 2/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
19-11218076-T-A LDLR c.826T>A p.Cys276Ser Missense 6/18 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
19-11231159-G-A LDLR c.2101G>A p.Gly701Ser Missense 14/18 -
19-11231087-T-C LDLR c.2029T>C p.Cys677Arg Missense 14/18 -
19-11215974-A-G LDLR c.392A>G p.Asp131Gly Missense 4/18 -
19-11224437-G-C LDLR c.1585G>C p.Gly529Arg Missense 10/18 -
19-11224428-C-T LDLR c.1576C>T p.Pro526Ser Missense 10/18 -
19-11224052-G-A LDLR c.1285G>A p.Val429Met Missense 9/18 -