Description of the mutations of RET (NM_020975) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC400456 | C618S | 618 | c.1853 | G>C | Missense |
| RC400457 | C618R | 618 | c.1852 | T>C | Missense |
| RC400458 | C634R | 634 | c.1900 | T>C | Missense |
| RC400459 | C634S | 634 | c.1901 | G>C | Missense |
| RC400460 | C634G | 634 | c.1900 | T>G | Missense |
| RC400461 | C634Y | 634 | c.1901 | G>A | Missense |
| RC400462 | C634W | 634 | c.1902 | C>G | Missense |
| RC400463 | M918T | 918 | c.2753 | T>C | Missense |
| RC400464 | C620F | 620 | c.1859 | G>T | Missense |
| RC400465 | C630R | 630 | c.1888 | T>C | Missense |
| RC400466 | A883F | 883 | c.2647_2648 | GC>TT | Missense |
| RC400467 | E632_L633del | 632 | c.1894_1899 | delGAGCTG | deletion |
| RC400468 | E768D | 768 | c.2304 | G>C | Missense |
| RC400469 | A664D | 664 | c.1991 | C>A | Missense |
| RC400470 | E632_T636>SS | 632 | c.1894_1906 | GAGCTGTGCCGCA >AGCT | deletion |
| RC403218 | P20L | 20 | 59 | C>T | Hirschsprung disease |
| RC403219 | S32L | 32 | 95 | C>T | Hirschsprung disease |
| RC403220 | L40P | 40 | 119 | T>C | Hirschsprung disease |
| RC403221 | L56M | 56 | 166 | C>A | Hirschsprung disease |
| RC403222 | P64L | 64 | 191 | C>T | Hirschsprung disease |
| RC403223 | R67H | 67 | 200 | G>A | Autonomic control, congenital failure of ? |
| RC403224 | R77C | 77 | 229 | C>T | Hirschsprung disease |
| RC403225 | G93S | 93 | 277 | G>A | Hirschsprung disease |
| RC403226 | Y96C | 96 | 287 | A>G | Hirschsprung disease |
| RC403227 | S100I | 100 | 299 | G>T | Hirschsprung disease |
| RC403228 | R114H | 114 | 341 | G>A | Autonomic control, congenital failure of |
| RC403229 | E136X | 136 | 406 | G>T | Hirschsprung disease |
| RC403230 | C142S | 142 | 425 | G>C | Hirschsprung disease |
| RC403231 | v145G | 145 | 434 | T>G | Hirschsprung disease |
| RC403232 | v145L | 145 | 433 | G>C | Hirschsprung disease |
| RC403233 | Y146N | 146 | 436 | T>A | Hirschsprung disease |
| RC403234 | C157Y | 157 | 470 | G>A | Hirschsprung disease |
| RC403235 | F174S | 174 | 521 | T>C | Hirschsprung disease |
| RC403236 | R180Q | 180 | 539 | G>A | Hirschsprung disease |
| RC403237 | R180P | 180 | 539 | G>C | Hirschsprung disease |
| RC403238 | R180X | 180 | 538 | C>T | Hirschsprung disease |
| RC403239 | C197Y | 197 | 590 | G>A | Hirschsprung disease |
| RC403240 | v202M | 202 | 604 | G>A | Hirschsprung disease |
| RC403241 | R231H | 231 | 692 | G>A | Hirschsprung disease |
| RC403242 | E235K | 235 | 703 | G>A | Hirschsprung disease |
| RC403243 | E251K | 251 | 751 | G>A | Hirschsprung disease |
| RC403244 | v262A | 262 | 785 | T>C | Hirschsprung disease |
| RC403245 | D267N | 267 | 799 | G>A | Hirschsprung disease |
| RC403246 | T278N | 278 | 833 | C>A | Hirschsprung disease |
| RC403247 | v282L | 282 | 844 | G>T | Hirschsprung disease |
| RC403248 | R287Q | 287 | 860 | G>A | Hirschsprung disease |
| RC403249 | R313Q | 313 | 938 | G>A | Hirschsprung disease |
| RC403250 | G321R | 321 | 961 | G>A | Thyroid carcinoma, medullary |
| RC403251 | W324C | 324 | 972 | G>C | Hirschsprung disease |
| RC403252 | R330Q | 330 | 989 | G>A | Hirschsprung disease |
| RC403253 | R330W | 330 | 988 | C>T | Hirschsprung disease |
| RC403254 | v331M | 331 | 991 | G>A | Hirschsprung disease |
| RC403255 | T338I | 338 | 1013 | C>T | Hirschsprung disease |
| RC403256 | R360W | 360 | 1078 | C>T | Hirschsprung disease |
| RC403257 | S365X | 365 | 1094 | C>A | Hirschsprung disease |
| RC403258 | A373v | 373 | 1118 | C>T | Hirschsprung disease |
| RC403259 | F393L | 393 | 1179 | C>A | Hirschsprung disease |
| RC403260 | N394K | 394 | 1182 | C>G | Hirschsprung disease |
| RC403261 | P399L | 399 | 1196 | C>T | Hirschsprung disease |
| RC403262 | A432E | 432 | 1295 | C>A | Autonomic control, congenital failure of ? |
| RC403263 | L452P | 452 | 1355 | T>C | Hirschsprung disease |
| RC403264 | D469N | 469 | 1405 | G>A | Aganglionosis, total colonic |
| RC403265 | R475Q | 475 | 1424 | G>A | Hirschsprung disease |
| RC403266 | R475W | 475 | 1423 | C>T | Hirschsprung disease |
| RC403267 | E480K | 480 | 1438 | G>A | Hirschsprung disease |
| RC403268 | A487T | 487 | 1459 | G>A | Hirschsprung disease |
| RC403269 | D489G | 489 | 1466 | A>G | Hirschsprung disease |
| RC403270 | G533C | 533 | 1597 | G>T | Thyroid cancer |
| RC403271 | G533S | 533 | 1597 | G>A | Hirschsprung disease |
| RC403272 | C541X | 541 | 1623 | T>A | Hirschsprung disease |
| RC403273 | C558Y | 558 | 1673 | G>A | Hirschsprung disease |
| RC403274 | Q576P | 576 | 1727 | A>C | Hirschsprung disease |
| RC403275 | D584G | 584 | 1751 | A>G | Hirschsprung disease |
| RC403276 | C585Y | 585 | 1754 | G>A | Multiple endocrine neoplasia 2 |
| RC403277 | G588D | 588 | 1763 | G>A | Aganglionosis, total colonic |
| RC403278 | K603Q | 603 | 1807 | A>C | Thyroid cancer |
| RC403279 | Y606C | 606 | 1817 | A>G | Thyroid carcinoma, medullary |
| RC403280 | C609W | 609 | 1827 | C>G | Hirschsprung disease |
| RC403281 | C609S | 609 | 1826 | G>C | Thyroid cancer |
| RC403282 | C609F | 609 | 1826 | G>T | Thyroid cancer |
| RC403283 | C609Y | 609 | 1826 | G>A | Thyroid cancer |
| RC403284 | C609S | 609 | 1825 | T>A | Hirschsprung disease |
| RC403285 | C609R | 609 | 1825 | T>C | Multiple endocrine neoplasia 2A |
| RC403286 | C609G | 609 | 1825 | T>G | Multiple endocrine neoplasia 2A |
| RC403287 | C611W | 611 | 1833 | C>G | Multiple endocrine neoplasia 2A |
| RC403288 | C611Y | 611 | 1832 | G>A | Multiple endocrine neoplasia 2A |
| RC403289 | C611F | 611 | 1832 | G>T | Multiple endocrine neoplasia 2A |
| RC403290 | C611S | 611 | 1831 | T>A | Multiple endocrine neoplasia 2A |
| RC403291 | C611R | 611 | 1831 | T>C | Multiple endocrine neoplasia 2A |
| RC403292 | C611G | 611 | 1831 | T>G | Thyroid cancer |
| RC403293 | C618X | 618 | 1854 | C>A | Multiple endocrine neoplasia 2 |
| RC403294 | C618Y | 618 | 1853 | G>A | Thyroid carcinoma, medullary |
| RC403295 | C618F | 618 | 1853 | G>T | Multiple endocrine neoplasia 2A |
| RC403296 | C618G | 618 | 1852 | T>G | Multiple endocrine neoplasia 2A |
| RC403297 | C620W | 620 | 1860 | C>G | Thyroid cancer |
| RC403298 | C620Y | 620 | 1859 | G>A | Multiple endocrine neoplasia 2A |
| RC403299 | C620S | 620 | 1859 | G>C | Thyroid cancer |
| RC403300 | C620S | 620 | 1858 | T>A | Thyroid cancer |
| RC403301 | C620R | 620 | 1858 | T>C | Thyroid cancer |
| RC403302 | C620G | 620 | 1858 | T>G | Multiple endocrine neoplasia 2A |
| RC403303 | Q626K | 626 | 1876 | C>A | Hirschsprung disease |
| RC403304 | C630Y | 630 | 1889 | G>A | Thyroid cancer |
| RC403305 | C630S | 630 | 1889 | G>C | Thyroid cancer |
| RC403306 | C630F | 630 | 1889 | G>T | Multiple endocrine neoplasia 2A |
| RC403307 | D631Y | 631 | 1891 | G>T | Multiple endocrine neoplasia 2 |
| RC403308 | C634F | 634 | 1901 | G>T | Multiple endocrine neoplasia 2A |
| RC403309 | R635G | 635 | 1903 | C>G | Multiple endocrine neoplasia 2A |
| RC403310 | A640G | 640 | 1919 | C>G | Multiple endocrine neoplasia 2A |
| RC403311 | A641S | 641 | 1921 | G>T | Multiple endocrine neoplasia 2A |
| RC403312 | v648I | 648 | 1942 | G>A | Multiple endocrine neoplasia 2A |
| RC403313 | S649L | 649 | 1946 | C>T | Elevated basal serum calcitonin |
| RC403314 | A654T | 654 | 1960 | G>A | Hirschsprung disease |
| RC403315 | K666E | 666 | 1996 | A>G | Thyroid carcinoma, medullary |
| RC403316 | S690P | 690 | 2068 | T>C | Hirschsprung disease |
| RC403317 | G691S | 691 | 2071 | G>A | Hirschsprung disease, association with |
| RC403318 | R694Q | 694 | 2081 | G>A | Hirschsprung disease |
| RC403319 | Q703X | 703 | 2107 | C>T | Aganglionosis, total colonic |
| RC403320 | T729A | 729 | 2185 | A>G | Hirschsprung disease |
| RC403321 | E734K | 734 | 2200 | G>A | Aganglionosis, total colonic |
| RC403322 | E762Q | 762 | 2284 | G>C | Hirschsprung disease |
| RC403323 | S765P | 765 | 2293 | T>C | Hirschsprung disease |
| RC403324 | S767R | 767 | 2299 | A>C | Hirschsprung disease |
| RC403325 | D771N | 771 | 2311 | G>A | Hirschsprung disease |
| RC403326 | N777S | 777 | 2330 | A>G | Thyroid carcinoma, medullary |
| RC403327 | v778I | 778 | 2332 | G>A | Thyroid cancer |
| RC403328 | K780X | 780 | 2338 | A>T | Hirschsprung disease |
| RC403329 | K780E | 780 | 2338 | A>G | Hirschsprung disease |
| RC403330 | Q781R | 781 | 2342 | A>G | Thyroid cancer |
| RC403331 | L790F | 790 | 2370 | G>C | Thyroid cancer |
| RC403332 | L790F | 790 | 2370 | G>T | Thyroid cancer |
| RC403333 | Y791F | 791 | 2372 | A>T | Hirschsprung disease |
| RC403334 | Y791N | 791 | 2371 | T>A | Hirschsprung disease |
| RC403335 | S795R | 795 | 2385 | C>A | Hirschsprung disease |
| RC403336 | v804L | 804 | 2410 | G>C | Multiple endocrine neoplasia 2 |
| RC403337 | v804L | 804 | 2410 | G>T | Thyroid cancer |
| RC403338 | v804M | 804 | 2410 | G>A | Thyroid cancer |
| RC403339 | R813Q | 813 | 2438 | G>A | Hirschsprung disease |
| RC403340 | E818K | 818 | 2452 | G>A | Thyroid carcinoma, medullary |
| RC403341 | S819I | 819 | 2456 | G>T | Multiple endocrine neoplasia 2 |
| RC403342 | P841L | 841 | 2522 | C>T | Hirschsprung disease |
| RC403343 | E843D | 843 | 2529 | G>T | Multiple endocrine neoplasia 2 |
| RC403344 | R844L | 844 | 2531 | G>T | Thyroid cancer |
| RC403345 | R844Q | 844 | 2531 | G>A | Thyroid carcinoma, medullary |
| RC403346 | R844W | 844 | 2530 | C>T | Hirschsprung disease |
| RC403347 | M848T | 848 | 2543 | T>C | Multifollicular thyroid carcinoma ? |
| RC403348 | I852M | 852 | 2556 | C>G | Thyroid Cancer |
| RC403349 | R873Q | 873 | 2618 | G>A | Hirschsprung disease |
| RC403350 | R873P | 873 | 2618 | G>C | Aganglionosis, total colonic |
| RC403351 | A883T | 883 | 2647 | G>A | Thyroid cancer |
| RC403352 | E884D | 884 | 2652 | G>C | Aganglionosis, total colonic |
| RC403353 | R886W | 886 | 2656 | C>T | Thyroid carcinoma, medullary |
| RC403354 | S891A | 891 | 2671 | T>G | Thyroid cancer |
| RC403355 | F893L | 893 | 2677 | T>C | Hirschsprung disease |
| RC403356 | G894S | 894 | 2680 | G>A | Hirschsprung disease |
| RC403357 | R897Q | 897 | 2690 | G>A | Hirschsprung disease |
| RC403358 | R897X | 897 | 2689 | C>T | Aganglionosis, total colonic |
| RC403359 | S904C | 904 | 2711 | C>G | Multiple endocrine neoplasia 2B |
| RC403360 | S904F | 904 | 2711 | C>T | Multifollicular thyroid carcinoma ? |
| RC403361 | K907E | 907 | 2719 | A>G | Hirschsprung disease |
| RC403362 | R912Q | 912 | 2735 | G>A | Hirschsprung disease |
| RC403363 | R912P | 912 | 2735 | G>C | Thyroid cancer |
| RC403364 | E921X | 921 | 2761 | G>T | Hirschsprung disease |
| RC403365 | E921K | 921 | 2761 | G>A | Hirschsprung disease |
| RC403366 | S922Y | 922 | 2765 | C>A | Multiple endocrine neoplasia 2B |
| RC403367 | S922P | 922 | 2764 | T>C | Thyroid cancer |
| RC403368 | W942C | 942 | 2826 | G>C | Aganglionosis, total colonic |
| RC403369 | W942X | 942 | 2825 | G>A | Hirschsprung disease |
| RC403370 | F961L | 961 | 2881 | T>C | Hirschsprung disease |
| RC403371 | R969W | 969 | 2905 | C>T | Aganglionosis, total colonic |
| RC403372 | R972G | 972 | 2914 | A>G | Hirschsprung disease |
| RC403373 | P973L | 973 | 2918 | C>T | Hirschsprung disease |
| RC403374 | M980T | 980 | 2939 | T>C | Hirschsprung disease |
| RC403375 | R982C | 982 | 2944 | C>T | Autonomic control, congenital failure of ? |
| RC403376 | P1039Q | 1039 | 3116 | C>A | Hirschsprung disease |
| RC403377 | P1039L | 1039 | 3116 | C>T | Hirschsprung disease |
| RC403378 | N1059S | 1059 | 3176 | A>G | Hirschsprung disease |
| RC403379 | L1061P | 1061 | 3182 | T>C | Hirschsprung disease |
| RC403380 | Y1062C | 1062 | 3185 | A>G | Hirschsprung disease |
| RC403381 | M1064T | 1064 | 3191 | T>C | Hirschsprung disease |
