PMID: 33519890

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers in genetics
Kamar, Amina A, Khalil, Athar A, Nemer, Georges G
2020

76 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-59407065-C-A CYP7A1 c.1039G>T p.D347Y Missense 4/6 -
2-21229160-C-T APOB c.10580G>A p.R3527Q Missense 26/29 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
19-11224052-G-A LDLR c.1285G>A p.V429M Missense 9/18 -
19-11224284-G-A LDLR c.1432G>A p.G478R Missense 10/18 -
1-230819372-GAT-AAG COG2 c.1219_1221delGATinsAAG p.D407K Missense 11/18 -
19-11227612-C-T LDLR c.1783C>T p.R595W Missense 12/18 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
19-11216264-G-A LDLR c.682G>A p.E228K Missense 4/18 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
2-21229161-G-A APOB c.10579C>T p.R3527W Missense 26/29 -
19-11240230-A-T LDLR c.2431A>T p.K811* Nonsense 17/18 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
19-11216000-G-T LDLR c.418G>T p.E140* Nonsense 4/18 -
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 -
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55509594-C-T PCSK9 c.286C>T p.R96C Missense 2/12 -
19-11210962-G-A LDLR c.131G>A p.W44* Nonsense 2/18 -
19-11222300-G-A LDLR c.1171G>A p.A391T Missense 8/18 -
19-11231101-C-A LDLR c.2043C>A p.C681* Nonsense 14/18 -
19-11224024-C-G LDLR c.1257C>G p.Y419* Nonsense 9/18 -
19-11210957-C-A LDLR c.126C>A p.Y42* Nonsense 2/18 -
1-55525301-G-A PCSK9 c.1646G>A p.R549H Missense 10/12 -
2-27445509-C-G CAD c.618C>G p.D206E Missense 5/44 -
19-11224022-T-G LDLR c.1255T>G p.Y419D Missense 9/18 -
19-11224322-G-T LDLR c.1470G>T p.W490C Missense 10/18 -
19-11224322-G-C LDLR c.1470G>C p.W490C Missense 10/18 -
2-21229068-G-A APOB c.10672C>T p.R3558C Missense 26/29 -
19-11227564-G-A LDLR c.1735G>A p.D579N Missense 12/18 -
19-11216208-G-A LDLR c.626G>A p.C209Y Missense 4/18 -
19-11224284-G-C LDLR c.1432G>C p.G478R Missense 10/18 -
19-11217307-A-C LDLR c.761A>C p.Q254P Missense 5/18 -
1-25883705-C-T LDLRAP1 c.406C>T p.Q136* Nonsense 4/9 -
19-11224288-T-C LDLR c.1436T>C p.L479P Missense 10/18 -
2-21225006-A-T APOB c.13288T>A p.S4430T Missense 29/29 -
19-11224051-C-G LDLR c.1284C>G p.N428K Missense 9/18 -
19-11224051-C-A LDLR c.1284C>A p.N428K Missense 9/18 -
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 -
8-125579419-C-T MTSS1 c.619G>A p.E207K Missense 8/14 -
19-11216132-T-C LDLR c.550T>C p.C184R Missense 4/18 -
19-11216187-T-TC LDLR c.606_606dup p.H203Pfs*15 Frameshift 4/18 -
1-25889632-TC-A LDLRAP1 c.604_605delinsA p.S202Tfs*2 Frameshift 6/9 -
19-11240216-T-TC LDLR c.2418dupC p.F807Lfs*10 Frameshift 17/18 -
2-27447977-C-T CAD c.1486C>T p.R496W Missense 11/44 -
19-11226829-G-A LDLR c.1646G>A p.G549D Missense 11/18 -
19-11213441-G-A LDLR c.292G>A p.G98S Missense 3/18 -
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
19-11233924-C-T LDLR c.2215C>T p.Q739* Nonsense 15/18 -
19-11215934-G-T LDLR c.352G>T p.D118Y Missense 4/18 -
19-11215955-C-T LDLR c.373C>T p.Q125* Nonsense 4/18 -
1-55512214-G-T PCSK9 c.418G>T p.V140F Missense 3/12 -
19-11216244-A-G LDLR c.662A>G p.D221G Missense 4/18 -
19-11217334-A-G LDLR c.788A>G p.D263G Missense 5/18 -
1-55525202-G-A PCSK9 c.1547G>A p.G516E Missense 10/12 -
2-27445509-C-A CAD c.618C>A p.D206E Missense 5/44 -
2-21229554-C-T APOB c.10186G>A p.A3396T Missense 26/29 -
19-11224119-T-C LDLR c.1352T>C p.I451T Missense 9/18 -
1-55524243-C-T PCSK9 c.1426C>T p.R476C Missense 9/12 -
19-11217309-T-C LDLR c.763T>C p.C255R Missense 5/18 -
19-11240203-CCTT-C LDLR c.2404_2406delCTT p.L802del InFrameDeletion 17/18 -
19-11238756-CCAT-C LDLR c.2386_2388delATC p.I796del InFrameDeletion 16/18 -
19-11226873-A-C LDLR c.1690A>C p.N564H Missense 11/18 -
19-11200282-G-A LDLR c.58G>A p.G20R Missense 1/18 -
19-11200282-G-C LDLR c.58G>C p.G20R Missense 1/18 -
2-21225168-G-A APOB c.13126C>T p.Q4376* Nonsense 29/29 -
19-11226786-G-A LDLR c.1603G>A p.D535N Missense 11/18 -
19-11231171-G-C LDLR c.2113G>C p.A705P Missense 14/18 -
19-11210963-G-A LDLR c.132G>A p.W44* Nonsense 2/18 -
1-25891662-A-AG LDLRAP1 c.748dupG p.E250Gfs*4 SpliceAcceptorInsertion 8/9 -
19-11224041-A-G LDLR c.1274A>G p.N425S Missense 9/18 -