555 (MTS-23) |
MSH2
| 1 to 6 | Deletion of exons 1–6 | Large deletion | MSI-H | ND |
554 (MTS-21) |
MSH2
| 1 | c.145delG† | Frameshift | MSI-H | ND |
130 |
MSH2
| 2 | c.289_290ins22bp* (c.268–289dup) | Frameshift | MSI-H | MSH2 |
593 |
MSH2
| 2 | c.289C>T | Q97X | NT | NT |
435 (MTS-10) |
MSH2
| 3 | c.380_381delAT* | Frameshift | MSI-H | NT |
162 |
MSH2
| 3 | c.478C>T† | Q160X | MSI-H | MSH2 |
726 (ST-62) |
MSH2
| 3 | c.592_593insG† | Frameshift | ND | ND |
278 |
MSH2
| 5 | c.862C>T* | Q288X | MSI-H | MSH2 |
122 |
MSH2
| 5 | c.942+3 A>T | Alteration of splicing | MSI-H | NT |
765 (ST-63) |
MSH2
| 7 | c.1165C>T | R389X | ND | MSH2 |
535 |
MSH2
| 7 | c.1189C>T | Q397X | MSI-H | MSH2 |
788 (ST-33) |
MSH2
| 8 | c.1373T>G | L458X | ND | MSH2 |
631 (MTS-18) |
MSH2
| 9, 10 | Deletion of exons 9, 10† | Large deletion | MSI-H | NT |
810 |
MSH2
| 10 | c.1571G>C | R524P | MSI-H | None |
MTS-2a |
MSH2
| 10 | c.1576delA* | Frameshift | MSI-H | ND |
398 (MTS-24) |
MSH2
| 10 | c.1578delC† | Frameshift | MSI-H | MSH2 |
132 |
MSH2
| 11 | c.1676delA* | Frameshift | MSI-H | NT |
167 |
MSH2
| 11 | c.1700_1704delAAACA* | Frameshift | MSI-H | MSH2 |
133 |
MSH2
| 12 | c.1809delT* | Frameshift | MSI-H | MSH2 |
655 (ST-29) |
MSH2
| 12 | c.2005+2T>C† | Alteration of splicing | ND | ND |
851 (MTS-8) |
MSH2
| 13 | c.2015delT* | Frameshift | MSI-H | NT |
62 |
MSH2
| 13 | c.2090 G>T* | C697F | MSI-H | MSH2 |
667 (ST-28) |
MSH2
| 13 | c.2131C>T | R711X | MSI-H | MSH2 |
628 (ST-27) |
MSH2
| 14 | c.2228C>G | S743X | MSI-H | MSH2 |
762 |
MSH2
| 15, 16 | Deletion of exons 15, 16† | Large deletion | MSI-H | MSH2 |
MTS-9 |
MLH1
| 2 | c.150_151insT* | Frameshift | MSI-H | ND |
MTS-14 |
MLH1
| 16 | c.1884_1888delGGAAA* | Frameshift | MSI-H | ND |