Table 2.
Summary of mutations analyzed by WES.
| Gene ref gene | Chr | Start | End | Ref | Alt | |
|---|---|---|---|---|---|---|
| 1 | MUC16 | 19 | 9050161 | 9050161 | - | AA |
| 2 | MUC16 | 19 | 9050163 | 9050163 | - | CCACTTCCAGAGCC |
| 3 | MUC16 | 19 | 9058599 | 9058599 | - | TGCC |
| 4 | MUC16 | 19 | 9058600 | 9058600 | - | CTCCTGAGGTCTCCAG |
| 5 | MUC16 | 19 | 9065157 | 9065157 | - | CTCACACCA |
| 6 | MUC16 | 19 | 9076232 | 9076232 | - | ACTCTTGACTGGGACACTGGGAGATCTCTGTCAT |
| 7 | RPGRIP1L | 16 | 53686476 | 53686476 | C | A |
| 8 | RPGRIP1L | 16 | 53686477 | 53686477 | C | A |
| 9 | RPGRIP1L | 16 | 53686660 | 53686660 | - | AGACAACTCCCGTAGT |
| 10 | ERICH3 | 1 | 75037773 | 75037773 | - | CCTGAAGGAAGGGCACCGCCAAGATGGAGAGGGGG |
| 11 | ERICH3 | 1 | 75055676 | 75055676 | - | GACAGGGAAGCCCACACTGACA |
| 12 | TTN | 2 | 179434170 | 179434170 | - | A |
| 13 | TTN | 2 | 179500799 | 179500799 | C | G |
| 14 | TTN | 2 | 179640476 | 179640476 | G | C |
| 15 | RGSL1 | 1 | 182443294 | 182443294 | - | TCTTGGAGGAGTG |
| 16 | RGSL1 | 1 | 182443296 | 182443296 | - | TGACAATGGGGATGA |
| 17 | RGSL1 | 1 | 182499947 | 182499947 | - | AA |
| 18 | RGSL1 | 1 | 182499952 | 182499952 | - | GCTACTCGGGAGGCTGAGGCGAGTGGATCGCCTGAGGT |
| 19 | OBSCN | 1 | 228399569 | 228399569 | C | T |
| 20 | OBSCN | 1 | 228404900 | 228404900 | - | GGTGACTGTGGCTGCCACCAGCC |
WES, whole exome sequencing.