Table 3.
Whole exome sequencing analyses in the pedigree of DCM‐155
| Proband (DCM‐155; II‐1) | Sibling (DCM‐155; II‐3) | |
|---|---|---|
| All variants | 85 682 | 85 982 |
| Quality passed | 52 681 | 53 126 |
| Non‐synonymous mutation, not in dbSNV151, and <0.5% in 1000 genome | 1091 | 1107 |
| Deleterious variants (predicted high impact by SnpEff) | 169 | 178 |
| Segregation | 80 variants (in 74 genes) | |
| ABCA2a, ACAD9, AKAP9, AKD1a, ATAD3B, ATG4B, C1R, CAMKK2, CAPN8, CCDC17, CD151, CDH23, CHL1a, CLTC, CLTCL1, CNKSR1, D2HGDHa, DCHS2a, DNAH17, DNM1L, DTL, EPSTI1, EWSR1, EYS, FAM81B, FAP, HLA‐DQA1, HLA‐DQB1, HLA‐DRB1, HPS3, HYOU1, ITPR1, KALRN, KIAA0430, KIR3DX1, LAPTM4B, LCMT2, LDLRAP1, LILRB5, LRP5L, LTF, MICAL1, MON2, MYLK3, MYO7B, NADK, NEDD4, NFIA, NHLRC3, NLRP8, NOTCH2, NPHP1, OLFM1, OXCT1, PDC, PDE4DIP, PNPLA7, PTGES, RGS11, RNF212, SAT1, SCARF2, SELPLG, SERINC4, SLC25A25, SNF8, SPEF2, STAB1a, TUBGCP6, UNC50, VLDLR, WDR90, ZDHHC11, ZNF527 | ||
| On IPA gene list | Three variants in two genes (STAB1a and AKAP9) | |
DCM, dilated cardiomyopathy; IPA, Ingenuity Pathway Analysis.
a
Two variants in one gene.