Family ID | Cancer | Exon | Nucleotide Change | Consequence of Mutation | Reference LOVD database ID |
---|---|---|---|---|---|
PMS2_3 | CRC (55), Renal (50) | 1 8 | c.1A>G +c.834_842del | Alternative DNA transcript Deletion | DB-ID: PMS2_00130 |
PMS2_1 PMS2_2 PMS2_5 | CRC (41) No cancer (67) CRC (47) | 7 | c.736_741del6ins11 | Truncating | DB-ID: PMS2_00187 |
PMS2_4 | CRC (38) | 7 | c.746_753del | Truncating | Not previously reported |
PMS2_6 | CRC (60) | 9 | c.904_1144del | Exon deletion | DB-ID: PMS2_00195 |