PMID: 33079599

Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic and precision medicine
Trinder, Mark M, Paquette, Martine M, Cermakova, Lubomira L, Ban, Matthew R MR, Hegele, Robert A RA, Baass, Alexis A, Brunham, Liam R LR
2020-10

321 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-19407718-T-C SUGP1 c.1243+80A>G - IntronicSNV - 8/13
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
19-11223990-A-T LDLR c.1223A>T p.E408V Missense 9/18 -
19-11215934-G-A LDLR c.352G>A p.D118N Missense 4/18 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
19-11227576-C-T LDLR c.1747C>T p.H583Y Missense 12/18 -
19-11224052-G-A LDLR c.1285G>A p.V429M Missense 9/18 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
19-11231058-G-A LDLR c.2000G>A p.C667Y Missense 14/18 -
19-11231058-G-T LDLR c.2000G>T p.C667F Missense 14/18 -
19-11216263-C-A LDLR c.681C>A p.D227E Missense 4/18 -
19-11216263-C-G LDLR c.681C>G p.D227E Missense 4/18 -
19-11216263-C-T LDLR c.681C>T p.D227= Synonymous 4/18 -
19-11216264-G-A LDLR c.682G>A p.E228K Missense 4/18 -
19-11216264-G-C LDLR c.682G>C p.E228Q Missense 4/18 -
19-11216264-G-T LDLR c.682G>T p.E228* Nonsense 4/18 -
19-11210912-C-T LDLR c.81C>T p.C27= Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.C27* Nonsense 2/18 -
19-11210912-C-G LDLR c.81C>G p.C27W Missense 2/18 -
7-21607352-T-C DNAH11 c.1195-2335T>C - IntronicSNV - 6/81
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
17-64210580-A-C APOH c.973T>G p.C325G Missense 7/8 -
7-44579180-G-A NPC1L1 c.816C>T p.L272= Synonymous 2/19 -
7-44579180-G-C NPC1L1 c.816C>G p.L272= Synonymous 2/19 -
1-150958836-A-G ANXA9 c.497A>G p.D166G Missense 8/14 -
2-21229160-C-A APOB c.10580G>T p.R3527L Missense 26/29 -
19-11223989-G-A LDLR c.1222G>A p.E408K Missense 9/18 -
17-64210580-A-G APOH c.973T>C p.C325R Missense 7/8 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55509594-C-T PCSK9 c.286C>T p.R96C Missense 2/12 -
19-11231087-T-C LDLR c.2029T>C p.C677R Missense 14/18 -
19-11226874-A-G LDLR c.1691A>G p.N564S Missense 11/18 -
19-11226801-G-A LDLR c.1618G>A p.A540T Missense 11/18 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
19-11230820-G-A LDLR c.1898G>A p.R633H Missense 13/18 -
19-11213390-C-T LDLR c.241C>T p.R81C Missense 3/18 -
19-11217344-T-A LDLR c.798T>A p.D266E Missense 5/18 -
19-11218108-C-A LDLR c.858C>A p.S286R Missense 6/18 -
19-11215919-G-A LDLR c.337G>A p.E113K Missense 4/18 -
19-11221390-G-A LDLR c.1003G>A p.G335S Missense 7/18 -
19-11231112-C-T LDLR c.2054C>T p.P685L Missense 14/18 -
19-11224428-C-A LDLR c.1576C>A p.P526T Missense 10/18 -
19-11221443-C-A LDLR c.1056C>A p.C352* Nonsense 7/18 -
19-11224019-G-A LDLR c.1252G>A p.E418K Missense 9/18 -
19-11227612-C-T LDLR c.1783C>T p.R595W Missense 12/18 -
19-11230819-C-T LDLR c.1897C>T p.R633C Missense 13/18 -
19-11213441-G-C LDLR c.292G>C p.G98R Missense 3/18 -
19-11210962-G-A LDLR c.131G>A p.W44* Nonsense 2/18 -
19-11213463-G-A LDLR c.313+1G>A - IntronicSNV - 3/17
19-11224052-G-C LDLR c.1285G>C p.V429L Missense 9/18 -
19-11224052-G-T LDLR c.1285G>T p.V429L Missense 9/18 -
19-11217264-G-A LDLR c.718G>A p.E240K Missense 5/18 -
19-11217264-G-T LDLR c.718G>T p.E240* Nonsense 5/18 -
19-11221399-T-A LDLR c.1012T>A p.C338S Missense 7/18 -
19-11224326-G-A LDLR c.1474G>A p.D492N Missense 10/18 -
19-11224419-G-A LDLR c.1567G>A p.V523M Missense 10/18 -
19-11227604-G-A LDLR c.1775G>A p.G592E Missense 12/18 -
19-11213450-G-A LDLR c.301G>A p.E101K Missense 3/18 -
19-11224019-G-T LDLR c.1252G>T p.E418* Nonsense 9/18 -
19-11213441-G-A LDLR c.292G>A p.G98S Missense 3/18 -
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
19-11222219-T-C LDLR c.1090T>C p.C364R Missense 8/18 -
19-11213408-T-G LDLR c.259T>G p.W87G Missense 3/18 -
19-11216083-C-A LDLR c.501C>A p.C167* Nonsense 4/18 -
19-11213417-G-T LDLR c.268G>T p.D90Y Missense 3/18 -
19-11224428-C-T LDLR c.1576C>T p.P526S Missense 10/18 -
19-11213417-G-A LDLR c.268G>A p.D90N Missense 3/18 -
19-11231101-C-A LDLR c.2043C>A p.C681* Nonsense 14/18 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -
19-11240278-G-T LDLR c.2479G>T p.V827F Missense 17/18 -
19-11233924-C-T LDLR c.2215C>T p.Q739* Nonsense 15/18 -
19-11224443-G-A LDLR c.1586+5G>A - IntronicSNV - 10/17
19-11224443-G-C LDLR c.1586+5G>C - IntronicSNV - 10/17
19-11238763-T-G LDLR c.2389+2T>G - IntronicSNV - 16/17
19-11223944-G-A LDLR c.1187-10G>A - IntronicSNV - 8/17
19-11223944-G-C LDLR c.1187-10G>C - IntronicSNV - 8/17
19-11224300-G-A LDLR c.1448G>A p.W483* Nonsense 10/18 -
19-11218167-C-A LDLR c.917C>A p.S306* Nonsense 6/18 -
19-11218167-C-G LDLR c.917C>G p.S306* Nonsense 6/18 -
19-11216002-G-C LDLR c.420G>C p.E140D Missense 4/18 -
19-11240278-G-A LDLR c.2479G>A p.V827I Missense 17/18 -
19-11213463-G-C LDLR c.313+1G>C - IntronicSNV - 3/17
19-11213463-G-T LDLR c.313+1G>T - IntronicSNV - 3/17
19-11216096-G-C LDLR c.514G>C p.D172H Missense 4/18 -
19-11224024-C-G LDLR c.1257C>G p.Y419* Nonsense 9/18 -
1-55524243-C-T PCSK9 c.1426C>T p.R476C Missense 9/12 -
19-11226873-A-C LDLR c.1690A>C p.N564H Missense 11/18 -
19-11213408-T-A LDLR c.259T>A p.W87R Missense 3/18 -
19-11213408-T-C LDLR c.259T>C p.W87R Missense 3/18 -
19-11218167-C-T LDLR c.917C>T p.S306L Missense 6/18 -
19-11216132-T-C LDLR c.550T>C p.C184R Missense 4/18 -
19-11216084-G-A LDLR c.502G>A p.D168N Missense 4/18 -
19-11216204-G-A LDLR c.622G>A p.E208K Missense 4/18 -
19-11221361-G-A LDLR c.974G>A p.C325Y Missense 7/18 -
19-11215934-G-T LDLR c.352G>T p.D118Y Missense 4/18 -
19-11216244-A-G LDLR c.662A>G p.D221G Missense 4/18 -
19-11215925-C-T LDLR c.343C>T p.R115C Missense 4/18 -
19-11216133-G-A LDLR c.551G>A p.C184Y Missense 4/18 -
19-11216084-G-C LDLR c.502G>C p.D168H Missense 4/18 -
19-11216101-C-G LDLR c.519C>G p.C173W Missense 4/18 -
19-11223984-G-A LDLR c.1217G>A p.R406Q Missense 9/18 -
19-11221336-G-A LDLR c.949G>A p.E317K Missense 7/18 -
19-11221435-C-T LDLR c.1048C>T p.R350* Nonsense 7/18 -
19-11224296-G-T LDLR c.1444G>T p.D482Y Missense 10/18 -
19-11224354-C-T LDLR c.1502C>T p.A501V Missense 10/18 -
19-11240247-G-C LDLR c.2448G>C p.K816N Missense 17/18 -
19-11218112-G-A LDLR c.862G>A p.E288K Missense 6/18 -
1-55523127-G-A PCSK9 c.1120G>A p.D374N Missense 7/12 -
19-11216200-T-G LDLR c.618T>G p.S206R Missense 4/18 -
19-11224008-T-G LDLR c.1241T>G p.L414R Missense 9/18 -
19-11226775-T-A LDLR c.1592T>A p.M531K Missense 11/18 -
19-11223983-C-T LDLR c.1216C>T p.R406W Missense 9/18 -
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
19-11222259-G-A LDLR c.1130G>A p.C377Y Missense 8/18 -
19-11224281-G-A LDLR c.1429G>A p.D477N Missense 10/18 -
19-11221366-C-T LDLR c.979C>T p.H327Y Missense 7/18 -
19-11224233-G-A LDLR c.1381G>A p.G461S Missense 10/18 -
19-11215919-G-T LDLR c.337G>T p.E113* Nonsense 4/18 -
19-11231177-G-T LDLR c.2119G>T p.D707Y Missense 14/18 -
19-11221399-T-G LDLR c.1012T>G p.C338G Missense 7/18 -
19-11222190-A-C LDLR c.1061A>C p.D354A Missense 8/18 -
19-11216096-G-T LDLR c.514G>T p.D172Y Missense 4/18 -
19-11224296-G-C LDLR c.1444G>C p.D482H Missense 10/18 -
19-11224320-T-C LDLR c.1468T>C p.W490R Missense 10/18 -
19-11226820-G-A LDLR c.1637G>A p.G546D Missense 11/18 -
19-11240345-C-T LDLR c.2546C>T p.S849L Missense 17/18 -
19-11210970-G-A LDLR c.139G>A p.D47N Missense 2/18 -
19-11211025-A-T LDLR c.190+4A>T - IntronicSNV - 2/17
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
19-11227576-C-G LDLR c.1747C>G p.H583D Missense 12/18 -
19-11231101-C-G LDLR c.2043C>G p.C681W Missense 14/18 -
19-11227574-T-C LDLR c.1745T>C p.L582P Missense 12/18 -
19-11216045-T-G LDLR c.463T>G p.C155G Missense 4/18 -
19-11216204-G-T LDLR c.622G>T p.E208* Nonsense 4/18 -
2-21229001-T-C APOB c.10739A>G p.N3580S Missense 26/29 -
19-11223983-C-A LDLR c.1216C>A p.R406= Synonymous 9/18 -
19-11226775-T-G LDLR c.1592T>G p.M531R Missense 11/18 -
19-11217357-G-A LDLR c.811G>A p.V271I Missense 5/18 -
19-11231130-C-T LDLR c.2072C>T p.S691L Missense 14/18 -
19-11224296-G-A LDLR c.1444G>A p.D482N Missense 10/18 -
19-11222320-G-A LDLR c.1186+5G>A - IntronicSNV - 8/17
19-11213375-G-T LDLR c.226G>T p.G76W Missense 3/18 -
19-11213415-G-A LDLR c.266G>A p.C89Y Missense 3/18 -
19-11231156-G-A LDLR c.2098G>A p.D700N Missense 14/18 -
19-11222214-A-C LDLR c.1085A>C p.D362A Missense 8/18 -
19-11218109-G-A LDLR c.859G>A p.G287S Missense 6/18 -
19-11227561-G-A LDLR c.1732G>A p.V578I Missense 12/18 -
19-11224266-G-T LDLR c.1414G>T p.D472Y Missense 10/18 -
19-11213381-C-T LDLR c.232C>T p.R78C Missense 3/18 -
19-11224005-C-T LDLR c.1238C>T p.T413M Missense 9/18 -
19-11222190-A-G LDLR c.1061A>G p.D354G Missense 8/18 -
19-11226817-G-A LDLR c.1634G>A p.G545E Missense 11/18 -
19-11231130-C-A LDLR c.2072C>A p.S691* Nonsense 14/18 -
19-11218137-G-A LDLR c.887G>A p.C296Y Missense 6/18 -
19-11218162-C-G LDLR c.912C>G p.D304E Missense 6/18 -
19-11224326-G-C LDLR c.1474G>C p.D492H Missense 10/18 -
19-11224024-C-A LDLR c.1257C>A p.Y419* Nonsense 9/18 -
19-11226820-G-T LDLR c.1637G>T p.G546V Missense 11/18 -
19-11216090-G-A LDLR c.508G>A p.D170N Missense 4/18 -
19-11231095-T-A LDLR c.2037T>A p.Y679* Nonsense 14/18 -
19-11227549-C-T LDLR c.1720C>T p.R574C Missense 12/18 -
19-11231046-G-C LDLR c.1988G>C p.G663A Missense 14/18 -
19-11221361-G-T LDLR c.974G>T p.C325F Missense 7/18 -
19-11231164-G-A LDLR c.2106G>A p.M702I Missense 14/18 -
19-11218157-C-T LDLR c.907C>T p.R303W Missense 6/18 -
19-11216243-G-A LDLR c.661G>A p.D221N Missense 4/18 -
19-11223989-G-C LDLR c.1222G>C p.E408Q Missense 9/18 -
19-11211025-A-G LDLR c.190+4A>G - IntronicSNV - 2/17
19-11216243-G-T LDLR c.661G>T p.D221Y Missense 4/18 -
19-11223962-G-A LDLR c.1195G>A p.A399T Missense 9/18 -
19-11231112-C-A LDLR c.2054C>A p.P685Q Missense 14/18 -
19-11241969-A-G LDLR c.2560A>G p.S854G Missense 18/18 -
19-11216246-T-C LDLR c.664T>C p.C222R Missense 4/18 -
19-11224058-G-A LDLR c.1291G>A p.A431T Missense 9/18 -
19-11224014-G-T LDLR c.1247G>T p.R416L Missense 9/18 -
19-11231199-G-A LDLR c.2140+1G>A - IntronicSNV - 14/17
19-11213375-G-C LDLR c.226G>C p.G76R Missense 3/18 -
19-11216096-G-A LDLR c.514G>A p.D172N Missense 4/18 -
19-11213464-T-C LDLR c.313+2T>C - IntronicSNV - 3/17
19-11216083-C-G LDLR c.501C>G p.C167W Missense 4/18 -
19-11223990-A-C LDLR c.1223A>C p.E408A Missense 9/18 -
19-11230782-G-A LDLR c.1860G>A p.W620* Nonsense 13/18 -
19-11224276-C-T LDLR c.1424C>T p.A475V Missense 10/18 -
19-11224419-G-T LDLR c.1567G>T p.V523L Missense 10/18 -
19-11222259-G-T LDLR c.1130G>T p.C377F Missense 8/18 -
19-11231100-G-A LDLR c.2042G>A p.C681Y Missense 14/18 -
19-11231100-G-C LDLR c.2042G>C p.C681S Missense 14/18 -
1-241667395-C-T FH c.1055G>A p.G352D Missense 7/10 -
1-55518037-G-A PCSK9 c.610G>A p.D204N Missense 4/12 -
19-11216273-T-C LDLR c.691T>C p.C231R Missense 4/18 -
19-11222262-A-C LDLR c.1133A>C p.Q378P Missense 8/18 -
19-11231118-T-TC LDLR c.2061_2061dupC p.N688Qfs*29 Frameshift 14/18 -
19-11240150-C-CG LDLR c.2390-34_2390-34dup - IntronicInsertion - 16/17
19-11240187-A-G LDLR c.2390-2A>G - IntronicSNV - 16/17
19-11240186-C-T LDLR c.2390-3C>T - IntronicSNV - 16/17
19-11231199-G-C LDLR c.2140+1G>C - IntronicSNV - 14/17
19-11231199-G-T LDLR c.2140+1G>T - IntronicSNV - 14/17
19-11213464-T-A LDLR c.313+2T>A - IntronicSNV - 3/17
19-11224127-T-A LDLR c.1358+2T>A - IntronicSNV - 9/17
19-11224127-T-C LDLR c.1358+2T>C - IntronicSNV - 9/17
19-11222320-G-C LDLR c.1186+5G>C - IntronicSNV - 8/17
19-11238681-C-A LDLR c.2312-3C>A - IntronicSNV - 15/17
19-11238681-C-T LDLR c.2312-3C>T - IntronicSNV - 15/17
19-11224381-C-T LDLR c.1529C>T p.T510M Missense 10/18 -
19-11241961-A-G LDLR c.2552A>G p.Q851R Missense 18/18 -
19-11218157-C-G LDLR c.907C>G p.R303G Missense 6/18 -
19-11240229-G-A LDLR c.2430G>A p.W810* Nonsense 17/18 -
19-11222194-C-T LDLR c.1065C>T p.I355= Synonymous 8/18 -
11-116706709-C-T APOA1 c.619G>A p.E207K Missense 4/4 -
19-11231177-G-A LDLR c.2119G>A p.D707N Missense 14/18 -
19-11223963-C-A LDLR c.1196C>A p.A399D Missense 9/18 -
19-11222194-C-G LDLR c.1065C>G p.I355M Missense 8/18 -
19-11231084-G-C LDLR c.2026G>C p.G676R Missense 14/18 -
19-11231084-G-T LDLR c.2026G>T p.G676C Missense 14/18 -
19-11213390-C-A LDLR c.241C>A p.R81S Missense 3/18 -
19-11224014-G-A LDLR c.1247G>A p.R416Q Missense 9/18 -
19-11224014-G-C LDLR c.1247G>C p.R416P Missense 9/18 -
19-11221399-T-C LDLR c.1012T>C p.C338R Missense 7/18 -
19-11230782-G-C LDLR c.1860G>C p.W620C Missense 13/18 -
19-11230782-G-T LDLR c.1860G>T p.W620C Missense 13/18 -
19-11221390-G-C LDLR c.1003G>C p.G335R Missense 7/18 -
19-11226775-T-C LDLR c.1592T>C p.M531T Missense 11/18 -
19-11211018-T-C LDLR c.187T>C p.C63R Missense 2/18 -
19-11222295-C-T LDLR c.1166C>T p.T389M Missense 8/18 -
19-11218182-A-C LDLR c.932A>C p.K311T Missense 6/18 -
19-11218182-A-G LDLR c.932A>G p.K311R Missense 6/18 -
19-11218108-C-T LDLR c.858C>T p.S286= Synonymous 6/18 -
19-11216084-G-T LDLR c.502G>T p.D168Y Missense 4/18 -
19-11222259-G-C LDLR c.1130G>C p.C377S Missense 8/18 -
19-11224024-C-T LDLR c.1257C>T p.Y419= Synonymous 9/18 -
19-11216202-G-A LDLR c.620G>A p.G207D Missense 4/18 -
19-11224354-C-A LDLR c.1502C>A p.A501E Missense 10/18 -
19-11216045-T-A LDLR c.463T>A p.C155S Missense 4/18 -
19-11216045-T-C LDLR c.463T>C p.C155R Missense 4/18 -
19-11226771-T-G LDLR c.1588T>G p.F530V Missense 11/18 -
19-11223962-G-T LDLR c.1195G>T p.A399S Missense 9/18 -
19-11217268-T-C LDLR c.722T>C p.F241S Missense 5/18 -
19-11217268-T-G LDLR c.722T>G p.F241C Missense 5/18 -
19-11226873-A-G LDLR c.1690A>G p.N564D Missense 11/18 -
19-11226801-G-T LDLR c.1618G>T p.A540S Missense 11/18 -
19-11223984-G-C LDLR c.1217G>C p.R406P Missense 9/18 -
19-11227625-T-G LDLR c.1796T>G p.L599W Missense 12/18 -
19-11222285-G-T LDLR c.1156G>T p.D386Y Missense 8/18 -
19-11227561-G-T LDLR c.1732G>T p.V578F Missense 12/18 -
19-11231164-G-C LDLR c.2106G>C p.M702I Missense 14/18 -
19-11230807-T-G LDLR c.1885T>G p.F629V Missense 13/18 -
19-11227662-G-C LDLR c.1833G>C p.L611F Missense 12/18 -
19-11227662-G-T LDLR c.1833G>T p.L611F Missense 12/18 -
19-11240298-G-A LDLR c.2499G>A p.E833= Synonymous 17/18 -
19-11240298-G-T LDLR c.2499G>T p.E833D Missense 17/18 -
19-11216246-T-G LDLR c.664T>G p.C222G Missense 4/18 -
19-11230820-G-T LDLR c.1898G>T p.R633L Missense 13/18 -
19-11224300-G-T LDLR c.1448G>T p.W483L Missense 10/18 -
19-11231095-T-C LDLR c.2037T>C p.Y679= Synonymous 14/18 -
19-11224266-G-A LDLR c.1414G>A p.D472N Missense 10/18 -
19-11210970-G-C LDLR c.139G>C p.D47H Missense 2/18 -
19-11221443-C-G LDLR c.1056C>G p.C352W Missense 7/18 -
19-11227625-T-C LDLR c.1796T>C p.L599S Missense 12/18 -
19-11218109-G-T LDLR c.859G>T p.G287C Missense 6/18 -
19-11217277-C-G LDLR c.731C>G p.S244C Missense 5/18 -
19-11231090-C-T LDLR c.2032C>T p.Q678* Nonsense 14/18 -
19-11240345-C-A LDLR c.2546C>A p.S849* Nonsense 17/18 -
19-11224096-G-A LDLR c.1329G>A p.W443* Nonsense 9/18 -
19-11224096-G-C LDLR c.1329G>C p.W443C Missense 9/18 -
19-11224096-G-T LDLR c.1329G>T p.W443C Missense 9/18 -
19-11218112-G-T LDLR c.862G>T p.E288* Nonsense 6/18 -
19-11224320-T-G LDLR c.1468T>G p.W490G Missense 10/18 -
19-11221406-GC-TG LDLR c.1019_1020delinsTG p.C340L Missense 7/18 -
19-11241958-G-A LDLR c.2549G>A p.R850K Missense 18/18 -
19-11222214-A-T LDLR c.1085A>T p.D362V Missense 8/18 -
19-11210962-G-T LDLR c.131G>T p.W44L Missense 2/18 -
19-11213450-G-T LDLR c.301G>T p.E101* Nonsense 3/18 -
19-11216083-C-T LDLR c.501C>T p.C167= Synonymous 4/18 -
19-11240309-A-G LDLR c.2510A>G p.H837R Missense 17/18 -
19-11231084-G-A LDLR c.2026G>A p.G676S Missense 14/18 -
19-11216244-A-T LDLR c.662A>T p.D221V Missense 4/18 -
19-11224427-T-A LDLR c.1575T>A p.D525E Missense 10/18 -
19-11224427-T-G LDLR c.1575T>G p.D525E Missense 10/18 -
19-11224419-G-C LDLR c.1567G>C p.V523L Missense 10/18 -
19-11216133-G-C LDLR c.551G>C p.C184S Missense 4/18 -
19-11221435-C-A LDLR c.1048C>A p.R350= Synonymous 7/18 -
19-11221435-C-G LDLR c.1048C>G p.R350G Missense 7/18 -
19-11216001-A-G LDLR c.419A>G p.E140G Missense 4/18 -
19-11227646-C-A LDLR c.1817C>A p.A606D Missense 12/18 -
19-11221336-G-T LDLR c.949G>T p.E317* Nonsense 7/18 -
19-11216002-G-T LDLR c.420G>T p.E140D Missense 4/18 -
19-11216091-A-G LDLR c.509A>G p.D170G Missense 4/18 -
19-11222190-A-T LDLR c.1061A>T p.D354V Missense 8/18 -
19-11224058-G-C LDLR c.1291G>C p.A431P Missense 9/18 -
19-11224058-G-T LDLR c.1291G>T p.A431S Missense 9/18 -
19-11227664-C-T LDLR c.1835C>T p.A612V Missense 12/18 -
19-11216273-T-G LDLR c.691T>G p.C231G Missense 4/18 -
19-11233924-C-A LDLR c.2215C>A p.Q739K Missense 15/18 -
19-11240239-C-T LDLR c.2440C>T p.R814W Missense 17/18 -
19-11224233-G-T LDLR c.1381G>T p.G461C Missense 10/18 -
19-11221443-C-T LDLR c.1056C>T p.C352= Synonymous 7/18 -
19-11216101-C-A LDLR c.519C>A p.C173* Nonsense 4/18 -
19-11216101-C-T LDLR c.519C>T p.C173= Synonymous 4/18 -
19-11218137-G-C LDLR c.887G>C p.C296S Missense 6/18 -
19-11231046-G-A LDLR c.1988G>A p.G663E Missense 14/18 -
19-11231117-A-T LDLR c.2059A>T p.I687F Missense 14/18 -
2-21238259-C-T APOB c.3491G>A p.R1164K Missense 22/29 -
19-11222231-T-C LDLR c.1102T>C p.C368R Missense 8/18 -
19-11222231-T-G LDLR c.1102T>G p.C368G Missense 8/18 -
19-11240303-A-C LDLR c.2504A>C p.E835A Missense 17/18 -
19-11222244-A-AGGGT LDLR c.1118_1121dup p.Y375Wfs*7 Frameshift 8/18 -
19-11231117-A-AT LDLR c.2060_2060dup p.N688Qfs*29 Frameshift 14/18 -