PMID: 33519890

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

Frontiers in genetics
A Kamar, A Khalil, G Nemer
2020

62 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224022-T-G LDLR c.1255T>G p.Tyr419Asp Missense 9/18 -
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
19-11216263-C-A LDLR c.681C>A p.Asp227Glu Missense 4/18 -
19-11217307-A-C LDLR c.761A>C p.Gln254Pro Missense 5/18 -
19-11224052-G-A LDLR c.1285G>A p.Val429Met Missense 9/18 -
19-11227564-G-A LDLR c.1735G>A p.Asp579Asn Missense 12/18 -
1-55512214-G-T PCSK9 c.418G>T p.Val140Phe Missense 3/12 -
19-11216189-C-CC LDLR c.606_606dup p.His203Profs*15 Frameshift 4/18 -
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -
19-11216132-T-C LDLR c.550T>C p.Cys184Arg Missense 4/18 -
19-11210962-G-A LDLR c.131G>A p.Trp44* Nonsense 2/18 -
1-55525202-G-A PCSK9 c.1547G>A p.Gly516Glu Missense 10/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
19-11224288-T-C LDLR c.1436T>C p.Leu479Pro Missense 10/18 -
19-11217309-T-C LDLR c.763T>C p.Cys255Arg Missense 5/18 -
19-11227612-C-T LDLR c.1783C>T p.Arg595Trp Missense 12/18 -
19-11240230-A-T LDLR c.2431A>T p.Lys811* Nonsense 17/18 -
19-11240203-CCTT-C LDLR c.2404_2406delCTT p.Leu802delLeu InFrameDeletion 17/18 -
19-11217334-A-G LDLR c.788A>G p.Asp263Gly Missense 5/18 -
1-55525301-G-A PCSK9 c.1646G>A p.Arg549His Missense 10/12 -
2-21225006-A-T APOB c.13288T>A p.Ser4430Thr Missense 29/29 -
19-11224041-A-G LDLR c.1274A>G p.Asn425Ser Missense 9/18 -
2-21229161-G-A APOB c.10579C>T p.Arg3527Trp Missense 26/29 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
19-11210957-C-A LDLR c.126C>A p.Tyr42* Nonsense 2/18 -
8-125579419-C-T MTSS1 c.619G>A p.Glu207Lys Missense 8/14 -
19-11224322-G-C LDLR c.1470G>C p.Trp490Cys Missense 10/18 -
19-11213408-T-C LDLR c.259T>C p.Trp87Arg Missense 3/18 -
19-11216000-G-T LDLR c.418G>T p.Glu140* Nonsense 4/18 -
19-11224322-G-T LDLR c.1470G>T p.Trp490Cys Missense 10/18 -
19-11224119-T-C LDLR c.1352T>C p.Ile451Thr Missense 9/18 -
1-55524243-C-T PCSK9 c.1426C>T p.Arg476Cys Missense 9/12 -
19-11215934-G-T LDLR c.352G>T p.Asp118Tyr Missense 4/18 -
19-11238681-C-A LDLR c.2312-3C>A - IntronicSNV - 15/17
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11231171-G-C LDLR c.2113G>C p.Ala705Pro Missense 14/18 -
19-11224051-C-A LDLR c.1284C>A p.Asn428Lys Missense 9/18 -
19-11224051-C-G LDLR c.1284C>G p.Asn428Lys Missense 9/18 -
19-11231101-C-A LDLR c.2043C>A p.Cys681* Nonsense 14/18 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
19-11226829-G-A LDLR c.1646G>A p.Gly549Asp Missense 11/18 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11224024-C-G LDLR c.1257C>G p.Tyr419* Nonsense 9/18 -
19-11215955-C-T LDLR c.373C>T p.Gln125* Nonsense 4/18 -
2-21225168-G-A APOB c.13126C>T p.Gln4376* Nonsense 29/29 -
2-21229554-C-T APOB c.10186G>A p.Ala3396Thr Missense 26/29 -
19-11224284-G-A LDLR c.1432G>A p.Gly478Arg Missense 10/18 -
19-11226786-G-A LDLR c.1603G>A p.Asp535Asn Missense 11/18 -
19-11213441-G-A LDLR c.292G>A p.Gly98Ser Missense 3/18 -
19-11240217-C-CC LDLR c.2418dupC p.Phe807Leufs*10 Frameshift 17/18 -
19-11216208-G-A LDLR c.626G>A p.Cys209Tyr Missense 4/18 -
19-11218167-C-T LDLR c.917C>T p.Ser306Leu Missense 6/18 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -
1-25883705-C-T LDLRAP1 c.406C>T p.Gln136* Nonsense 4/9 -
19-11233924-C-T LDLR c.2215C>T p.Gln739* Nonsense 15/18 -
19-11238758-CATC-C LDLR c.2386_2388delATC p.Ile796delIle InFrameDeletion 16/18 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-11226873-A-C LDLR c.1690A>C p.Asn564His Missense 11/18 -
19-11216244-A-G LDLR c.662A>G p.Asp221Gly Missense 4/18 -
19-11200282-G-A LDLR c.58G>A p.Gly20Arg Missense 1/18 -