Gene List:
ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CAVIN4, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAS, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL

References:
Bertolini S, et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Atherosclerosis. 2013 Apr;227(2):342-8.

Andersen L, et al. Current familial hypercholesterolemia diagnostic criteria underdiagnose APOB mutations: Lessons from the Amish community. J Clin Lipidol. 2016;10:443–4.

Sjouke B, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2015 Mar 1;36(9):560-5.