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

86 variants were identified in this publication


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