PMID: 31106297

Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic and precision medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
2018-12

68 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11215926-G-A LDLR c.344G>A p.Arg115His Missense 4/18 -
19-11224355-G-A LDLR c.1503G>A p.Ala501Ala Synonymous 10/18 -
19-11224014-G-A LDLR c.1247G>A p.Arg416Gln Missense 9/18 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
19-11231118-T-TT LDLR c.2060_2060dupT p.Asn688Glnfs*29 Frameshift 14/18 -
19-11224319-C-G LDLR c.1467C>G p.Tyr489* Nonsense 10/18 -
19-11223989-G-A LDLR c.1222G>A p.Glu408Lys Missense 9/18 -
2-21229905-T-C APOB c.9835A>G p.Ser3279Gly Missense 26/29 -
19-11227525-G-A LDLR c.1706-10G>A - IntronicSNV - 11/17
19-11215925-C-T LDLR c.343C>T p.Arg115Cys Missense 4/18 -
19-11224428-C-T LDLR c.1576C>T p.Pro526Ser Missense 10/18 -
19-11213381-C-T LDLR c.232C>T p.Arg78Cys Missense 3/18 -
19-11221354-G-A LDLR c.967G>A p.Gly323Ser Missense 7/18 -
19-11217264-G-T LDLR c.718G>T p.Glu240* Nonsense 5/18 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
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 -
19-11216203-C-G LDLR c.621C>G p.Gly207Gly Synonymous 4/18 -
19-11218157-C-T LDLR c.907C>T p.Arg303Trp Missense 6/18 -
19-11224127-T-C LDLR c.1358+2T>C - IntronicSNV - 9/17
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
19-11211016-C-G LDLR c.185C>G p.Thr62Arg Missense 2/18 -
19-11227612-C-T LDLR c.1783C>T p.Arg595Trp Missense 12/18 -
19-11213445-C-G LDLR c.296C>G p.Ser99* Nonsense 3/18 -
19-11221411-G-T LDLR c.1024G>T p.Asp342Tyr Missense 7/18 -
19-11217303-C-T LDLR c.757C>T p.Arg253Trp Missense 5/18 -
19-11218160-G-T LDLR c.910G>T p.Asp304Tyr Missense 6/18 -
19-11210962-G-A LDLR c.131G>A p.Trp44* Nonsense 2/18 -
19-11240345-C-A LDLR c.2546C>A p.Ser849* Nonsense 17/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
1-55521773-CGC-TGG PCSK9 c.907_909delCGCinsTGG p.Arg303Trp Missense 6/12 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
2-21257697-A-C APOB c.895T>G p.Phe299Val Missense 8/29 -
19-11216275-C-G LDLR c.693C>G p.Cys231Trp Missense 4/18 -
19-11217328-G-A LDLR c.782G>A p.Cys261Tyr Missense 5/18 -
19-11218112-G-A LDLR c.862G>A p.Glu288Lys Missense 6/18 -
19-11231203-G-A LDLR c.2140+5G>A - IntronicSNV - 14/17
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
2-21249808-G-A APOB c.2096C>T p.Pro699Leu Missense 15/29 -
19-11230900-C-T LDLR c.1978C>T p.Gln660* Nonsense 13/18 -
19-11231108-G-A LDLR c.2050G>A p.Ala684Thr Missense 14/18 -
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
19-11218157-C-G LDLR c.907C>G p.Arg303Gly Missense 6/18 -
19-11230777-T-C LDLR c.1855T>C p.Phe619Leu Missense 13/18 -
19-11231199-G-A LDLR c.2140+1G>A - IntronicSNV - 14/17
19-11213408-T-G LDLR c.259T>G p.Trp87Gly Missense 3/18 -
19-11224008-T-G LDLR c.1241T>G p.Leu414Arg Missense 9/18 -
19-11231057-T-C LDLR c.1999T>C p.Cys667Arg Missense 14/18 -
19-11221442-G-A LDLR c.1055G>A p.Cys352Tyr Missense 7/18 -
19-11231154-C-T LDLR c.2096C>T p.Pro699Leu Missense 14/18 -
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 -
19-11216203-C-T LDLR c.621C>T p.Gly207Gly Synonymous 4/18 -
19-11218070-GA-G LDLR c.820delA p.Thr274Hisfs*96 Frameshift 6/18 -
2-21225111-C-T APOB c.13183G>A p.Gly4395Ser Missense 29/29 -
19-11213417-G-T LDLR c.268G>T p.Asp90Tyr Missense 3/18 -
19-11223984-G-A LDLR c.1217G>A p.Arg406Gln Missense 9/18 -
19-11231058-G-A LDLR c.2000G>A p.Cys667Tyr Missense 14/18 -
19-11210968-G-C LDLR c.137G>C p.Cys46Ser Missense 2/18 -
19-11215944-G-T LDLR c.362G>T p.Cys121Phe Missense 4/18 -
19-11227613-G-T LDLR c.1784G>T p.Arg595Leu Missense 12/18 -
19-11221357-G-A LDLR c.970G>A p.Gly324Ser Missense 7/18 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11230798-G-A LDLR c.1876G>A p.Glu626Lys Missense 13/18 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
19-11213441-G-C LDLR c.292G>C p.Gly98Arg Missense 3/18 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -