Table 5.
Patient | Library | Breakpoint location | Affected genes |
---|---|---|---|
1 | SI | −:7:133311200|−:6:118209600 | EXOC4 |
1 | SI | −:3:55788800|−:12:81208800 | ERC2, LIN7Aa |
1 | LI | +:18:29128000|+:3:150368000 | DSG2 |
1 | LI | +:6:125820000|+:7:121984000 | CADPS2 |
1 | LI | +:9:74810000|+:X:11950000 | GDAa |
1 | LI | −:3:150370000|−:18:29126000 | DSG2 |
1 | LI | +:12:81208000|+:3:55788000 | ERC2, LIN7Aa |
1 | LI | +:X:11952000|+:9:74808000 | GDAa |
1 | LI | −:6:118210000|−:7:133310000 | EXOC4 |
1 | LI | +:14:89290000|+:17:78272000 | TTC8, RNF213 |
1 | LI | +:8:140172000|+:9:116200000 | C9orf43 |
1 | LI | −:4:91966000|−:11:83130000 | FAM190A |
2 | SI | −:7:153790400|−:7:149700000 | DPP6 |
2 | LI | +:4:130930800|+:12:65817400 | MSRB3 |
2 | LI | −:5:43080400|−:5:43269600 | NIM1 |
2 | LI | +:7:34837000|+:11:57763200 | NPSR1 |
3 | SI | +:12:9576000|+:12:9460000 | DDX12P, LOC642846 |
3 | LI | +:3:11258400|+:3:188188800 | HRH1, LPP |
3 | LI | +:3:173983200|+:3:187771200 | NLGN1 |
3 | LI | −:11:60480000|−:7:25058400 | MS4A8B |
aValidated by PCR and Sanger sequencing.