Comparison of mismatch repair variants between Chinese and non-Chinese populations
| A. Coding variants | ||||||||||
| Non-Chinese* | Chinese | |||||||||
| MLH1 (210) | MSH2 (248) | MSH6 (493) | PMS2 (215) | Total (1166) | ||||||
| Total† | Reported (%) | Total | Reported (%) | Total | Reported (%) | Total | Reported (%) | Total | Reported (%) | |
| General population | ||||||||||
| gnomAD | 1286 | 92 (43.8) | 1685 | 109 (44.0) | 2044 | 185 (37.5) | 1531 | 121 (56.3) | 6546 | 507 (43.5) |
| ExAC | 949 | 72 (34.3) | 1007 | 87 (35.1) | 1378 | 136 (27.6) | 916 | 98 (45.6) | 4250 | 393 (33.7) |
| 1000 genomes | 720 | 1 (0.5) | 1852 | 10 (12.9) | 429 | 11 (2.2) | 193 | 6 (2.8) | 3194 | 28 (2.4) |
| Subtotal† | 2258 | 84 (40.0) | 2549 | 109 (44.0) | 2646 | 181 (36.7) | 1732 | 117 (54.4) | 6927 | 491 (42.1) |
| Caner cohort | ||||||||||
| ClinVar | 2382 | 114 (54.3) | 2961 | 142 (57.3) | 3465 | 220 (44.6) | 1791 | 148 (68.8) | 10 599 | 624 (53.5) |
| InSiGHT | 1375 | 51 (24.3) | 1352 | 42 (16.9) | 506 | 55 (11.2) | 414 | 52 (24.2) | 3647 | 200 (17.2) |
| COGR | 120 | 11 (5.2) | 122 | 13 (5.2) | 109 | 15 (3.0) | 44 | 7 (3.3) | 395 | 46 (3.9) |
| UMD | 97 | 0 (0.0) | 246 | 18 (7.3) | 51 | 2 (0.4) | 0 | 0 (0.0) | 394 | 20 (1.7) |
| Subtotal† | 3644 | 104 (49.5) | 4312 | 121 (48.8) | 4061 | 200 (40.6) | 2165 | 128 (59.5) | 10 538 | 553 (47.4) |
| Total‡ | 5852 | 129 (61.4) | 7383 | 168 (67.7) | 6184 | 271 (55.0) | 3983 | 167 (77.7) | 23 402 | 735 (63.0) |
| B. Non-coding variants | ||||||||||
| Non-Chinese | Chinese | |||||||||
| MLH1 (3416) | MSH2 (8629) | MSH6 (2052) | PMS2 (2424) | Total (16 521) | ||||||
| Total | Reported (%) | Total | Reported (%) | Total | Reported (%) | Total | Reported (%) | Total | Reported (%) | |
| General population | ||||||||||
| gnomAD | 1286 | 65 (1.9) | 1685 | 81 (09) | 2044 | 36 (1.7) | 1531 | 58 (2.4) | 6546 | 240 (1.4) |
| ExAC | 949 | 46 (1.3) | 1007 | 51 (0.6) | 1378 | 26 (1.3) | 916 | 5 (0.2) | 4250 | 128 (0.8) |
| 1000 genomes | 720 | 18 (0.5) | 1852 | 282 (3.3) | 429 | 43 (2.1) | 193 | 28 (1.2) | 3194 | 371 (2.2) |
| Subtotal† | 2258 | 81 (2.4) | 2549 | 80 (0.9) | 2646 | 76 (3.7) | 1732 | 82 (3.4) | 6927 | 319 (1.9) |
| Cancer cohort | ||||||||||
| ClinVar | 2382 | 55 (1.6) | 2961 | 63 (0.7) | 3465 | 39 (1.9) | 1791 | 19 (0.8) | 10 599 | 176 (1.1) |
| InSiGHT | 1375 | 33 (1.0) | 1352 | 45 (0.5) | 506 | 19 (0.9) | 414 | 22 (0.9) | 3647 | 119 (0.7) |
| COGR | 120 | 4 (0.1) | 122 | 7 (0.1) | 109 | 4 (0.2) | 44 | 3 (0.1) | 395 | 18 (0.1) |
| UMD | 97 | 0 (0.0) | 246 | 0 (0.0) | 51 | 0 (0.0) | 0 | 0 (0.0) | 394 | 0 (0.0) |
| Subtotal† | 3644 | 51 (1.5) | 4312 | 67 (0.8) | 4061 | 38 (1.8) | 2165 | 25 (1.0) | 10 538 | 181 (1.1) |
| Total‡ | 5852 | 95 (2.8) | 7383 | 397 (4.6) | 6184 | 99 (4.8) | 3983 | 97 (4.0) | 23 402 | 688 (4.1) |
The bold values refer to the sum in each and combined populations.
*254 MMR variants derived from ethnic Chinese in these databases were excluded for the comparison.
†Distinct variants in non-Chinese databases after combination.
‡Distinct variants after combination of all variants in each column.