Table 4.
| China | China | India | Iran | China | Korea | ||
|---|---|---|---|---|---|---|---|
| S (17) | S (18) | S (19) | M (20) | (21) | M (22) | ||
| Exon | RET mutation | n (%) | n (%) | n (%) | n (%) | n (%) | n (%) |
| 5 | p.V292M | 0 | 1 (9) | 0 | 0 | 0 | 0 |
| 8 | p.C515S | 0 | 0 | 0 | 0 | 0 | 0 |
| 8 | p.G533C | 0 | 0 | 0 | 0 | 0 | 0 |
| 10 | p.C609R/G/F/S/Y | 0 | 0 | 2 (13) | 0 | 0 | 0 |
| 10 | p.C611R/G/F/S/W/Y | 0 | 0 | 0 | 1 (9) | 0 | 0 |
| 10 | p.C618R/G/F/S/Y | 2 (20) | 1 (9) | 1 (7) | 1 (9) | 0 | 3 (23) |
| 10 | p.C620R/G/F/S/W/Y | 0 | 0 | 0 | 0 | 0 | 0 |
| 11 | p.C630R/F/Y | 0 | 0 | 0 | 1 (9) | 0 | 0 |
| 11 | p.D631Y | 0 | 0 | 0 | 0 | 0 | 0 |
| 11 | p.C634R/G/F/S/W/Y | 6 (60) | 8 (73) | 9 (60) | 6 (55) | 15 (75) | 10 (77) |
| 11 | p.K666E | 0 | 0 | 0 | 0 | 0 | 0 |
| 12 | p.A750P | 0 | 0 | 0 | 0 | 0 | 0 |
| 13 | p.E768D | 0 | 0 | 0 | 0 | 0 | 0 |
| 13 | p.L790F | 1 (10) | 1 (9) | 0 | 0 | 0 | 0 |
| 14 | p.V804L/M | 0 | 0 | 1 (7) | 1 (9) | 0 | 0 |
| 14 | p.I852M | 0 | 0 | 0 | 0 | 0 | 0 |
| 15 | p.A883F/T | 0 | 0 | 0 | 0 | 0 | 0 |
| 15 | p.S891A | 0 | 0 | 0 | 0 | 0 | 0 |
| 15 | p.S904F | 0 | 0 | 0 | 0 | 0 | 0 |
| 16 | p.R912P | 0 | 0 | 0 | 0 | 0 | 0 |
| 16 | p.M918T | 1 (10) | 0 | 2 (13) | 1 (9) | 5 (25) | 0 |
| Total | 10 (100) | 11 (100) | 15 (100) | 11 (100) | 20 (100) | 13 (100) |
Due to rounding up, not all sums of the numbers fit.
Sequence changes classified as pathogenic in the ARUP database July 1, 2016 (30).
Including series with a minimum of 10 European RET families ((25,38,39) excluded), a minimum of exons 10–11 and 13–16 tested ((23,24) excluded), and specifying familial prevalence.
S, single center; M, multicenter; n, number of families.