Table 5.
List of deletion or missense variants identified from WGS analysis.
| iPSC clone | Locus (hg19) | Gene | Variant type | Effect |
| HNDS0068-01 #B CC3 | Chr1: 181548260 | CACNA1E | SNP | nonsynonymous |
| Chr3:126915614 | C3ORF56 | SNP | nonsynonymous | |
| Chr22:26168388 | MYO18B | SNP | nonsynonymous | |
| HNDS0078-01 #D CNC2 | Chr16:6367034 | RBFOX1 | SNP | nonsynonymous |
| HNDS0078-01 #D CC18 | Chr8:105368407 | DCSTAMP | SNP | nonsynonymous |
| HNDS0072-01 #C CNC87 | Chr7:6692698 | ZNF316 | SNP | nonsynonymous |
| HNDS0072-01 #C CC20 | Chr17:36486618 | GPR179 | SNP | nonsynonymous |
| HNDS0072-01 #C CC80 | Chr2:21365297 | TDRD15 | SNP | nonsynonymous |
| Chr16:15878562 | MYH11 | SNP | nonsynonymous | |
| 31 CC-het | Chr8:1616677 | DLGAP2 | SNP | nonsynonymous |
| Chr15:45562441 | SLC28A | SNP | nonsynonymous | |
| 31 CC-hom | Chr1:184692924 | EDEM3 | SNP | nonsynonymous |
| Chr2:170850922 | URB3 | SNP | nonsynonymous | |
| Chr5:140589980 | PCDHB12 | SNP | nonsynonymous | |
| Chr9: 80412511 | GNAQ | Deletion | ||
| Chr11:64679322 | ATG2A | SNP | nonsynonymous | |
| Chr15:42492130 | VPS39 | SNP | nonsynonymous | |
| Chr16:560714 | RAB11FIP3 | SNP | nonsynonymous | |
| Chr16:30001071 | TAOK2 | SNP | nonsynonymous | |
| 1-1134-003_CNC5 | Chr4:964783 | DGKQ | SNP | nonsynonymous |
| 1-1217-003_CNC36 | Chr5:148709327 | AFAP1L1 | SNP | nonsynonymous |
| 1-1006-003_CC9 | Chr14:42356229-42356230 | LRFN5 | MNP | Nonframeshift substitution |