Old nomenclature |
cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Validation by |
Validation date |
# records |
148C>T |
c.148C>T |
2 |
|
p.Gln50X |
Dimerization domain |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2322 |
4_39769---40249 | |
Causal |
- |
|
4 |
2323 |
4_39769---39769 | |
Causal |
- |
|
4 |
|
250G>T |
c.250G>T |
3 |
|
p.Gly84X |
|
Causal |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4045 |
7_10997911915E101271 | |
Causal |
- |
|
7 |
5420 |
SO_-5458G08428G08428 | |
Causal |
- |
|
71 |
5421 |
SO_-5458G08429G08429 | |
Causal |
- |
|
71 |
5573 |
7_-5458ILP0512905E051598 | |
Causal |
- |
|
7 |
5574 |
7_-5458ILP0512906E051597 | |
Causal |
- |
|
7 |
5575 |
7_-5458ILP0512907E051596 | |
Causal |
- |
|
7 |
5693 |
7_-5458ILP0711228E071590 | |
Causal |
- |
|
7 |
|
268A>T |
c.268A>T |
3 |
|
p.Lys90X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5797 |
10_APC-117---3501 P | |
Causal |
- |
|
10 |
5841 |
10_APC-117---3094 P | |
Causal |
- |
|
10 |
2615 |
10_APC-117---1590P | |
Causal |
- |
|
10 |
|
288T>A |
c.288T>A |
3 |
|
p.Tyr96X |
|
Causal |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2328 |
4_38954---38954 | |
Causal |
- |
|
4 |
2965 |
19_13840---13840.001 | |
Causal |
- |
|
19 |
2966 |
19_13840---13840.002 | |
Causal |
- |
|
19 |
2967 |
19_13840---13840.004 | |
Causal |
- |
|
19 |
3210 |
33_STL861---10-1242 | |
Causal |
- |
|
33 |
4049 |
7_11156912191E101512 | |
Causal |
- |
|
7 |
|
288T>G |
c.288T>G |
3 |
|
p.Tyr96X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4188 |
SO_-1115G00307G00307 | |
Causal |
- |
|
71 |
4609 |
SO_-1115G02592G02592 | |
Causal |
- |
|
71 |
5000 |
SO_-1115G04855G04855 | |
Causal |
- |
|
71 |
5198 |
SO_-1115G05894G05894 | |
Causal |
- |
|
71 |
|
301G>T |
c.301G>T |
3 |
|
p.Gly101X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3491 |
37_L06.44446846194 | |
Causal |
- |
|
37 |
|
311C>G |
c.311C>G |
3 |
|
p.Ser104X |
|
Causal |
unvalidated |
00/00/00 |
9  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5791 |
10_APC-216---3437 P | |
Causal |
- |
|
10 |
5842 |
10_APC-181---3100 P | |
Causal |
- |
|
10 |
5843 |
10_APC-181---3102 P | |
Causal |
- |
|
10 |
2678 |
10_APC-181---2631P | |
Causal |
- |
|
10 |
2993 |
19_13159---13159.001 | |
Causal |
- |
|
19 |
2994 |
19_13159---13159.002 | |
Causal |
- |
|
19 |
3230 |
33_SAT364---08-1482 | |
Causal |
- |
|
33 |
3231 |
33_SAT139---08-1175 | |
Causal |
- |
|
33 |
3232 |
33_SAT00139---07-102 | |
Causal |
- |
|
33 |
|
358A>T |
c.358A>T |
3 |
|
p.Arg120X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3967 |
7_8562810500E090789 | |
Causal |
- |
|
7 |
|
361A>T |
c.361A>T |
3 |
|
p.Arg121X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5171 |
SO_-117G05694G05694 | |
Causal |
- |
|
71 |
|
399T>G |
c.399T>G |
3 |
|
p.Tyr133X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4398 |
SO_-152G01312G01312 | |
Causal |
- |
|
71 |
|
470G>A |
c.470G>A |
4 |
|
p.Trp157X |
|
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2349 |
4_21015---21015 | |
Causal |
- |
|
4 |
4819 |
SO_-139G04077G04077 | |
Causal |
- |
|
71 |
4820 |
SO_-139G04080G04080 | |
Causal |
- |
|
71 |
4821 |
SO_-139G04081G04081 | |
Causal |
- |
|
71 |
5061 |
SO_-139G05278G05278 | |
Causal |
- |
|
71 |
|
471G>A |
c.471G>A |
4 |
|
p.Trp157X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3000 |
19_8024---8024.001 | |
Causal |
- |
|
19 |
5431 |
SO_-5536G08608G08608 | |
Causal |
- |
|
71 |
|
474T>G |
c.474T>G |
4 |
|
p.Tyr158X |
|
Causal |
unvalidated |
00/00/00 |
12  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2640 |
10_APC-003---883G | |
Causal |
- |
|
10 |
2641 |
10_APC-003---884G | |
Causal |
- |
|
10 |
2642 |
10_APC-003---885G | |
Causal |
- |
|
10 |
2643 |
10_APC-107---1343P | |
Causal |
- |
|
10 |
3876 |
SO_-96455825582 | |
Causal |
- |
|
71 |
3930 |
SO_-96492999299 | |
Causal |
- |
|
71 |
3931 |
SO_-96493059305 | |
Causal |
- |
|
71 |
4187 |
SO_-964G00305G00305 | |
Causal |
- |
|
71 |
4193 |
SO_-964G00342G00342 | |
Causal |
- |
|
71 |
4290 |
SO_-964G00795G00795 | |
Causal |
- |
|
71 |
4976 |
SO_-964G04815G04815 | |
Causal |
- |
|
71 |
5195 |
SO_-964G05885G05885 | |
Causal |
- |
|
71 |
|
481C>T |
c.481C>T |
4 |
|
p.Gln161X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2627 |
10_APC-059---713P | |
Causal |
- |
|
10 |
|
502A>T |
c.502A>T |
4 |
|
p.Arg168X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3238 |
33_SAT543---10-377 | |
Causal |
- |
|
33 |
3627 |
SO_-304753753 | |
Causal |
- |
|
71 |
3628 |
SO_-304757757 | |
Causal |
- |
|
71 |
4413 |
SO_-304G01367G01367 | |
Causal |
- |
|
71 |
|
562C>T |
c.562C>T |
5 |
|
p.Gln188X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2332 |
4_27579---27579 | |
Causal |
- |
|
4 |
2333 |
4_27579---26904 | |
Causal |
- |
|
4 |
4026 |
7_-6475910355E090484 | |
Causal |
- |
|
7 |
5642 |
7_-6475ILP0612041E070291 | |
Causal |
- |
|
7 |
|
568G>T |
c.568G>T |
5 |
|
p.Glu190X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2334 |
4_33685---33685 | |
Causal |
- |
|
4 |
2335 |
4_33685---37964 | |
Causal |
- |
|
4 |
|
573T>G |
c.573T>G |
5 |
|
p.Tyr191X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2644 |
10_APC-105---1314P | |
Causal |
- |
|
10 |
|
622C>T |
c.622C>T |
5 |
|
p.Gln208X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2350 |
4_41691---41691 | |
Causal |
- |
|
4 |
5668 |
7_-6584ILP0710417E070720 | |
Causal |
- |
|
7 |
|
637C>T |
c.637C>T |
5 |
|
p.Arg213X |
|
Causal |
unvalidated |
00/00/00 |
83  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5835 |
19_2418824188-00124188-001 | |
Causal |
- |
|
19 |
5848 |
10_APC-205---3147 P | |
Causal |
- |
|
10 |
5854 |
10_APC-210---3358 P | |
Causal |
- |
|
10 |
2377 |
4_1215---848 | |
Causal |
- |
|
4 |
2378 |
4_4944---21253 | |
Causal |
- |
|
4 |
2379 |
4_1215---2276 | |
Causal |
- |
|
4 |
2380 |
4_4944---6393 | |
Causal |
- |
|
4 |
2381 |
4_1215---853 | |
Causal |
- |
|
4 |
2382 |
4_41344---41344 | |
Causal |
- |
|
4 |
2383 |
4_1215---29113 | |
Causal |
- |
|
4 |
2384 |
4_4944---45027 | |
Causal |
- |
|
4 |
2385 |
4_1215---1217 | |
Causal |
- |
|
4 |
2386 |
4_1215---4800 | |
Causal |
- |
|
4 |
2387 |
4_1215---2706 | |
Causal |
- |
|
4 |
2388 |
4_1215---1215 | |
Causal |
- |
|
4 |
2389 |
4_4944---4944 | |
Causal |
- |
|
4 |
2685 |
10_APC-131---803P | |
Causal |
- |
|
10 |
2686 |
10_APC-156---2067P | |
Causal |
- |
|
10 |
3001 |
19_6660---6660.001 | |
Causal |
- |
|
19 |
3002 |
19_6660---6660.004 | |
Causal |
- |
|
19 |
3003 |
19_6660---6660.005 | |
Causal |
- |
|
19 |
3004 |
19_6660---6660.006 | |
Causal |
- |
|
19 |
3005 |
19_6660---6660.007 | |
Causal |
- |
|
19 |
3006 |
19_12475---12475.001 | |
Causal |
- |
|
19 |
3007 |
19_12475---12475.002 | |
Causal |
- |
|
19 |
3008 |
19_12475---12475.008 | |
Causal |
- |
|
19 |
3009 |
19_12475---12475.009 | |
Causal |
- |
|
19 |
3010 |
19_13182---13182.001 | |
Causal |
- |
|
19 |
3011 |
19_13182---13182.003 | |
Causal |
- |
|
19 |
3012 |
19_13182---13182.004 | |
Causal |
- |
|
19 |
3013 |
19_15102---15102.001 | |
Causal |
- |
|
19 |
3239 |
33_PSL491---06-299 | |
Causal |
- |
|
33 |
3240 |
33_PSL1813---08-1039 | |
Causal |
- |
|
33 |
3241 |
33_SAT254---07-1207 | |
Causal |
- |
|
33 |
3493 |
37_F06.0692918--- | |
Causal |
- |
|
37 |
3494 |
37_P03.041814--- | |
Causal |
- |
|
37 |
3495 |
37_P09.08876177655 | |
Causal |
- |
|
37 |
3580 |
SO_-75314314 | |
Causal |
- |
|
71 |
3885 |
SO_-8673677367 | |
Causal |
- |
|
71 |
3924 |
SO_-113084908490 | |
Causal |
- |
|
71 |
3968 |
7_-3362810534E080958 | |
Causal |
- |
|
7 |
4287 |
SO_-1130G00751G00751 | |
Causal |
- |
|
71 |
4308 |
SO_-2120G00905G00905 | |
Causal |
- |
|
71 |
4309 |
SO_-2120G00906G00906 | |
Causal |
- |
|
71 |
4317 |
SO_-86G00927G00927 | |
Causal |
- |
|
71 |
4358 |
SO_-86G01171G01171 | |
Causal |
- |
|
71 |
4359 |
SO_-86G01172G01172 | |
Causal |
- |
|
71 |
4360 |
SO_-86G01173G01173 | |
Causal |
- |
|
71 |
4411 |
SO_-86G01353G01353 | |
Causal |
- |
|
71 |
4428 |
SO_-1088G01418G01418 | |
Causal |
- |
|
71 |
4458 |
SO_-462G01602G01602 | |
Causal |
- |
|
71 |
4469 |
SO_-519G01629G01629 | |
Causal |
- |
|
71 |
4484 |
SO_-566G01653G01653 | |
Causal |
- |
|
71 |
4487 |
SO_-577G01656G01656 | |
Causal |
- |
|
71 |
4556 |
SO_-82G02109G02109 | |
Causal |
- |
|
71 |
4567 |
SO_-1088G02169G02169 | |
Causal |
- |
|
71 |
4638 |
SO_-2825G02686G02686 | |
Causal |
- |
|
71 |
4768 |
SO_-3362G03669G03669 | |
Causal |
- |
|
71 |
4795 |
SO_-2825G03877G03877 | |
Causal |
- |
|
71 |
4868 |
SO_-462G04257G04257 | |
Causal |
- |
|
71 |
4886 |
SO_-577G04363G04363 | |
Causal |
- |
|
71 |
4887 |
SO_-577G04375G04375 | |
Causal |
- |
|
71 |
4929 |
SO_-850G04558G04558 | |
Causal |
- |
|
71 |
4930 |
SO_-850G04560G04560 | |
Causal |
- |
|
71 |
5010 |
SO_-1088G04866G04866 | |
Causal |
- |
|
71 |
5024 |
SO_-1222G04917G04917 | |
Causal |
- |
|
71 |
5080 |
SO_-625G05318G05318 | |
Causal |
- |
|
71 |
5094 |
SO_-850G05338G05338 | |
Causal |
- |
|
71 |
5096 |
SO_-667G05340G05340 | |
Causal |
- |
|
71 |
5115 |
SO_-2825G05508G05508 | |
Causal |
- |
|
71 |
5155 |
SO_-86G05655G05655 | |
Causal |
- |
|
71 |
5220 |
SO_-4183G06206G06206 | |
Causal |
- |
|
71 |
5271 |
SO_-4530G06806G06806 | |
Causal |
- |
|
71 |
5278 |
SO_-82G06899G06899 | |
Causal |
- |
|
71 |
5334 |
SO_-4966G07486G07486 | |
Causal |
- |
|
71 |
5375 |
SO_-5166G07868G07868 | |
Causal |
- |
|
71 |
5477 |
7_-5747H677649E040673 | |
Causal |
- |
|
7 |
5520 |
7_-5967ILP0510822E050595 | |
Causal |
- |
|
7 |
5527 |
7_-850ILP0510960E050739 | |
Causal |
- |
|
7 |
5531 |
7_-1088ILP0511127E050783 | |
Causal |
- |
|
7 |
5580 |
7_-6167ILP0513097E060042 | |
Causal |
- |
|
7 |
5614 |
7_-6345ILP0611338E061249 | |
Causal |
- |
|
7 |
5673 |
7_-6598ILP0710486E070816 | |
Causal |
- |
|
7 |
|
646C>T |
c.646C>T |
6 |
|
p.Arg216X |
|
Causal |
unvalidated |
00/00/00 |
40  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2390 |
4_35713---35713 | |
Causal |
- |
|
4 |
2391 |
4_31349---31349 | |
Causal |
- |
|
4 |
2392 |
4_35827---35827 | |
Causal |
- |
|
4 |
2393 |
4_8698---24959 | |
Causal |
- |
|
4 |
2394 |
4_8698---43661 | |
Causal |
- |
|
4 |
2395 |
4_8698---8698 | |
Causal |
- |
|
4 |
2687 |
10_APC-004---137G | |
Causal |
- |
|
10 |
2688 |
10_APC-004---27P | |
Causal |
- |
|
10 |
3014 |
19_13602---13602.001 | |
Causal |
- |
|
19 |
3242 |
33_SAT403---09-0155 | |
Causal |
- |
|
33 |
3243 |
33_SAT403---09-0156 | |
Causal |
- |
|
33 |
3856 |
SO_-53846404640 | |
Causal |
- |
|
71 |
3882 |
SO_-103961316131 | |
Causal |
- |
|
71 |
3911 |
SO_-53878737873 | |
Causal |
- |
|
71 |
3917 |
SO_-16979537953 | |
Causal |
- |
|
71 |
4008 |
7_9794813023E091212 | |
Causal |
- |
|
7 |
4066 |
7_-5381010657E102172 | |
Causal |
- |
|
7 |
4092 |
7_-5381012484E102174 | |
Causal |
- |
|
7 |
4183 |
SO_-1039G00280G00280 | |
Causal |
- |
|
71 |
4213 |
SO_-1789G00424G00424 | |
Causal |
- |
|
71 |
4302 |
SO_-2091G00870G00870 | |
Causal |
- |
|
71 |
4347 |
SO_-2242G01127G01127 | |
Causal |
- |
|
71 |
4478 |
SO_-538G01641G01641 | |
Causal |
- |
|
71 |
4513 |
SO_-590G01813G01813 | |
Causal |
- |
|
71 |
4568 |
SO_-2091G02185G02185 | |
Causal |
- |
|
71 |
4586 |
SO_-590G02374G02374 | |
Causal |
- |
|
71 |
4707 |
SO_-590G03204G03204 | |
Causal |
- |
|
71 |
4747 |
SO_-3232G03512G03512 | |
Causal |
- |
|
71 |
4748 |
SO_-3232G03516G03516 | |
Causal |
- |
|
71 |
4826 |
SO_-169G04117G04117 | |
Causal |
- |
|
71 |
4905 |
SO_-674G04467G04467 | |
Causal |
- |
|
71 |
4906 |
SO_-674G04468G04468 | |
Causal |
- |
|
71 |
4952 |
SO_-1226G04670G04670 | |
Causal |
- |
|
71 |
4964 |
SO_-1039G04785G04785 | |
Causal |
- |
|
71 |
5055 |
SO_-2091G05249G05249 | |
Causal |
- |
|
71 |
5058 |
SO_-169G05270G05270 | |
Causal |
- |
|
71 |
5097 |
SO_-674G05342G05342 | |
Causal |
- |
|
71 |
5192 |
SO_2502G05806G05806 | |
Causal |
- |
|
71 |
5433 |
SO_-5559G08644G08644 | |
Causal |
- |
|
71 |
5571 |
7_-6170ILP0512711E051521 | |
Causal |
- |
|
7 |
|
667C>T |
c.667C>T |
6 |
|
p.Gln223X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2970 |
19_23086---23086-001 | |
Causal |
- |
|
19 |
3453 |
37_P04.012155--- | |
Causal |
- |
|
37 |
4632 |
SO_-2824G02676G02676 | |
Causal |
- |
|
71 |
|
694C>T |
c.694C>T |
6 |
|
p.Arg232X |
|
Causal |
unvalidated |
00/00/00 |
46  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2398 |
4_21725---21725 | |
Causal |
- |
|
4 |
2399 |
4_41928---41928 | |
Causal |
- |
|
4 |
2400 |
4_29214---29214 | |
Causal |
- |
|
4 |
2689 |
10_APC-122---1707P | |
Causal |
- |
|
10 |
2690 |
10_APC-149---1882P | |
Causal |
- |
|
10 |
3015 |
19_22484---22484-001 | |
Causal |
- |
|
19 |
3244 |
33_PSL1784---08-943 | |
Causal |
- |
|
33 |
3245 |
33_PSL406---06-103 | |
Causal |
- |
|
33 |
4020 |
7_-963910169E090302 | |
Causal |
- |
|
7 |
4110 |
7_-963---ILP0711732 | |
Causal |
- |
|
7 |
4111 |
7_-5812E040824E040824 | |
Causal |
- |
|
7 |
4112 |
7_-5812E040825E040825 | |
Causal |
- |
|
7 |
4182 |
SO_-1049G00279G00279 | |
Causal |
- |
|
71 |
4264 |
SO_-1192G00642G00642 | |
Causal |
- |
|
71 |
4320 |
SO_-2169G01002G01002 | |
Causal |
- |
|
71 |
4323 |
SO_-1049G01013G01013 | |
Causal |
- |
|
71 |
4364 |
SO_-2271G01193G01193 | |
Causal |
- |
|
71 |
4423 |
SO_-2271G01409G01409 | |
Causal |
- |
|
71 |
4507 |
SO_-604G01756G01756 | |
Causal |
- |
|
71 |
4508 |
SO_-604G01757G01757 | |
Causal |
- |
|
71 |
4510 |
SO_-604G01788G01788 | |
Causal |
- |
|
71 |
4582 |
SO_-2664G02324G02324 | |
Causal |
- |
|
71 |
4583 |
SO_-2664G02328G02328 | |
Causal |
- |
|
71 |
4588 |
SO_-2271G02394G02394 | |
Causal |
- |
|
71 |
4589 |
SO_-2271G02395G02395 | |
Causal |
- |
|
71 |
4643 |
SO_-2271G02745G02745 | |
Causal |
- |
|
71 |
4644 |
SO_-2271G02746G02746 | |
Causal |
- |
|
71 |
4890 |
SO_-604G04392G04392 | |
Causal |
- |
|
71 |
4891 |
SO_-604G04393G04393 | |
Causal |
- |
|
71 |
4902 |
SO_-604G04447G04447 | |
Causal |
- |
|
71 |
4939 |
SO_-963G04619G04619 | |
Causal |
- |
|
71 |
4959 |
SO_-963G04780G04780 | |
Causal |
- |
|
71 |
4968 |
SO_-1049G04801G04801 | |
Causal |
- |
|
71 |
5031 |
SO_-1192G04932G04932 | |
Causal |
- |
|
71 |
5085 |
SO_-604G05327G05327 | |
Causal |
- |
|
71 |
5173 |
SO_-231G05696G05696 | |
Causal |
- |
|
71 |
5287 |
SO_-2169G06963G06963 | |
Causal |
- |
|
71 |
5310 |
SO_-2169G07160G07160 | |
Causal |
- |
|
71 |
5316 |
SO_-4915G07219G07219 | |
Causal |
- |
|
71 |
5499 |
7_-4915ILP0510002E050069 | |
Causal |
- |
|
7 |
5546 |
7_-6047ILP0511745E051284 | |
Causal |
- |
|
7 |
5562 |
7_-6089ILP0512221E051235 | |
Causal |
- |
|
7 |
5590 |
7_-4915ILP0610676E060558 | |
Causal |
- |
|
7 |
5670 |
7_-6586ILP0710440E070718 | |
Causal |
- |
|
7 |
5672 |
7_-4915ILP0710471E070683 | |
Causal |
- |
|
7 |
5715 |
SO_-3622KS0462KS0462 | |
Causal |
- |
|
71 |
|
704T>A |
c.704T>A |
6 |
|
p.Leu235X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4932 |
SO_-885G04581G04581 | |
Causal |
- |
|
71 |
5101 |
SO_-885G05354G05354 | |
Causal |
- |
|
71 |
|
712C>T |
c.712C>T |
6 |
|
p.Gln238X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3214 |
33_PSL1070---08-782 | |
Causal |
- |
|
33 |
3215 |
33_PSL1070---07-490 | |
Causal |
- |
|
33 |
4977 |
SO_-968G04817G04817 | |
Causal |
- |
|
71 |
|
778C>T |
c.778C>T |
7 |
|
p.Gln260X |
|
Causal |
unvalidated |
00/00/00 |
26  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3222 |
33_SAT0287---08-203 | |
Causal |
- |
|
33 |
3520 |
SO_-111 | |
Causal |
- |
|
71 |
3521 |
SO_-11111 | |
Causal |
- |
|
71 |
3522 |
SO_-11414 | |
Causal |
- |
|
71 |
3523 |
SO_-12020 | |
Causal |
- |
|
71 |
3524 |
SO_-12424 | |
Causal |
- |
|
71 |
3525 |
SO_-12727 | |
Causal |
- |
|
71 |
3526 |
SO_-13434 | |
Causal |
- |
|
71 |
3527 |
SO_-13939 | |
Causal |
- |
|
71 |
3528 |
SO_-14242 | |
Causal |
- |
|
71 |
3529 |
SO_-14747 | |
Causal |
- |
|
71 |
3530 |
SO_-15151 | |
Causal |
- |
|
71 |
3531 |
SO_-15252 | |
Causal |
- |
|
71 |
3532 |
SO_-15454 | |
Causal |
- |
|
71 |
3533 |
SO_-15555 | |
Causal |
- |
|
71 |
3534 |
SO_-15757 | |
Causal |
- |
|
71 |
3884 |
SO_-170957095 | |
Causal |
- |
|
71 |
3886 |
SO_-173917391 | |
Causal |
- |
|
71 |
3887 |
SO_-174067406 | |
Causal |
- |
|
71 |
4109 |
71_-1------ | |
Causal |
- |
|
71 |
4357 |
SO_-2263G01170G01170 | |
Causal |
- |
|
71 |
4410 |
SO_-2263G01351G01351 | |
Causal |
- |
|
71 |
4561 |
SO_-2263G02130G02130 | |
Causal |
- |
|
71 |
4703 |
SO_-3066G03161G03161 | |
Causal |
- |
|
71 |
5543 |
7_-2263ILP0511647E051008 | |
Causal |
- |
|
7 |
5708 |
7_-3066ILP0711964--- | |
Causal |
- |
|
7 |
|
832C>T |
c.832C>T |
7 |
|
p.Gln278X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5626 |
7_-6393ILP0611630E070009 | |
Causal |
- |
|
7 |
|
839C>A |
c.839C>A |
8 |
|
p.Ser280X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3535 |
SO_-38383 | |
Causal |
- |
|
71 |
3892 |
SO_-374227422 | |
Causal |
- |
|
71 |
3893 |
SO_-374247424 | |
Causal |
- |
|
71 |
|
839C>G |
c.839C>G |
8 |
|
p.Ser280X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2401 |
4_33149---33149 | |
Causal |
- |
|
4 |
|
847C>T |
c.847C>T |
8 |
|
p.Arg283X |
|
Causal |
unvalidated |
00/00/00 |
35  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5857 |
10_APC-175---3414 P | |
Causal |
- |
|
10 |
2691 |
10_APC-002---100G | |
Causal |
- |
|
10 |
2692 |
10_APC-128---146P | |
Causal |
- |
|
10 |
2693 |
10_APC-128---144P | |
Causal |
- |
|
10 |
2694 |
10_APC-175---2503P | |
Causal |
- |
|
10 |
3016 |
19_1523---1523.001 | |
Causal |
- |
|
19 |
3017 |
19_1523---1523.003 | |
Causal |
- |
|
19 |
3018 |
19_1523---1523.005 | |
Causal |
- |
|
19 |
3019 |
19_1523---1523.006 | |
Causal |
- |
|
19 |
3496 |
37_P02.03-E1218--- | |
Causal |
- |
|
37 |
3497 |
37_P05.04-E3369--- | |
Causal |
- |
|
37 |
3498 |
37_P02.03-E1973--- | |
Causal |
- |
|
37 |
3499 |
37_P05.04-E3370--- | |
Causal |
- |
|
37 |
3671 |
SO_-378918918 | |
Causal |
- |
|
71 |
3672 |
SO_-378920920 | |
Causal |
- |
|
71 |
3794 |
SO_-37833043304 | |
Causal |
- |
|
71 |
4304 |
SO_-2141G00883G00883 | |
Causal |
- |
|
71 |
4305 |
SO_-2141G00884G00884 | |
Causal |
- |
|
71 |
4306 |
SO_-2141G00885G00885 | |
Causal |
- |
|
71 |
4349 |
SO_-477G01133G01133 | |
Causal |
- |
|
71 |
4350 |
SO_-477G01136G01136 | |
Causal |
- |
|
71 |
4351 |
SO_-477G01137G01137 | |
Causal |
- |
|
71 |
4462 |
SO_-477G01610G01610 | |
Causal |
- |
|
71 |
4529 |
SO_-1194G01874G01874 | |
Causal |
- |
|
71 |
4652 |
SO_-1194G02807G02807 | |
Causal |
- |
|
71 |
4719 |
SO_-3137G03301G03301 | |
Causal |
- |
|
71 |
4756 |
SO_-1194G03579G03579 | |
Causal |
- |
|
71 |
4757 |
SO_-1194G03580G03580 | |
Causal |
- |
|
71 |
4869 |
SO_-477G04259G04259 | |
Causal |
- |
|
71 |
5035 |
SO_-1194G04993G04993 | |
Causal |
- |
|
71 |
5059 |
SO_-357G05271G05271 | |
Causal |
- |
|
71 |
5100 |
SO_-877G05353G05353 | |
Causal |
- |
|
71 |
5142 |
SO_-477G05622G05622 | |
Causal |
- |
|
71 |
5211 |
SO_-2141G06026G06026 | |
Causal |
- |
|
71 |
5560 |
7_-6088ILP0512219E051234 | |
Causal |
- |
|
7 |
|
904C>T |
c.904C>T |
8 |
|
p.Arg302X |
|
Causal |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5787 |
37_P14.27E27593159406 | |
Causal |
- |
|
37 |
3020 |
19_17992---17992.001 | |
Causal |
- |
|
19 |
3021 |
19_17992---17992.002 | |
Causal |
- |
|
19 |
3022 |
19_17992---17992.004 | |
Causal |
- |
|
19 |
3023 |
19_17992---17992.006 | |
Causal |
- |
|
19 |
4061 |
7_114651010311E100502 | |
Causal |
- |
|
7 |
5381 |
SO_-5200G07932G07932 | |
Causal |
- |
|
71 |
|
994C>T |
c.994C>T |
9 |
|
p.Arg332X |
|
Causal |
unvalidated |
00/00/00 |
82  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5808 |
19_6350---6350-012 | |
Causal |
- |
|
19 |
5837 |
10_APC-199---3010 P | |
Causal |
- |
|
10 |
2402 |
4_35833---37276 | |
Causal |
- |
|
4 |
2403 |
4_35833---35833 | |
Causal |
- |
|
4 |
2404 |
4_3438---36314 | |
Causal |
- |
|
4 |
2405 |
4_3438---3438 | |
Causal |
- |
|
4 |
2695 |
10_APC-048---553P | |
Causal |
- |
|
10 |
2696 |
10_APC-048---1276P | |
Causal |
- |
|
10 |
2697 |
10_APC-048---1277P | |
Causal |
- |
|
10 |
3024 |
19_2175---2175.001 | |
Causal |
- |
|
19 |
3025 |
19_2175---2175.002 | |
Causal |
- |
|
19 |
3026 |
19_2175---2175.003 | |
Causal |
- |
|
19 |
3027 |
19_2175---2175.004 | |
Causal |
- |
|
19 |
3028 |
19_2175---2175.005 | |
Causal |
- |
|
19 |
3029 |
19_2175---2175.009 | |
Causal |
- |
|
19 |
3030 |
19_2175---2175.012 | |
Causal |
- |
|
19 |
3031 |
19_2175---2175.013 | |
Causal |
- |
|
19 |
3032 |
19_2175---2175.015 | |
Causal |
- |
|
19 |
3033 |
19_2175---2175.017 | |
Causal |
- |
|
19 |
3034 |
19_3013---3013.001 | |
Causal |
- |
|
19 |
3035 |
19_3013---3013.003 | |
Causal |
- |
|
19 |
3036 |
19_3021---3021.001 | |
Causal |
- |
|
19 |
3037 |
19_3021---3021.002 | |
Causal |
- |
|
19 |
3038 |
19_3725---3725.001 | |
Causal |
- |
|
19 |
3039 |
19_3725---3725.003 | |
Causal |
- |
|
19 |
3040 |
19_3725---3725.006 | |
Causal |
- |
|
19 |
3041 |
19_3725---3725.008 | |
Causal |
- |
|
19 |
3042 |
19_3725---3725.009 | |
Causal |
- |
|
19 |
3043 |
19_3725---3725.010 | |
Causal |
- |
|
19 |
3044 |
19_3770---3770.001 | |
Causal |
- |
|
19 |
3045 |
19_3770---3770.009 | |
Causal |
- |
|
19 |
3046 |
19_3770---3770.012 | |
Causal |
- |
|
19 |
3047 |
19_3770---3770.013 | |
Causal |
- |
|
19 |
3048 |
19_3770---3770.015 | |
Causal |
- |
|
19 |
3049 |
19_3770---3770.020 | |
Causal |
- |
|
19 |
3050 |
19_3770---3770.022 | |
Causal |
- |
|
19 |
3051 |
19_3770---3770.023 | |
Causal |
- |
|
19 |
3052 |
19_4260---4260.003 | |
Causal |
- |
|
19 |
3053 |
19_6350---6350.001 | |
Causal |
- |
|
19 |
3054 |
19_6350---6350.002 | |
Causal |
- |
|
19 |
3055 |
19_6350---6350.003 | |
Causal |
- |
|
19 |
3056 |
19_6350---6350.005 | |
Causal |
- |
|
19 |
3057 |
19_11199---11199.001 | |
Causal |
- |
|
19 |
3058 |
19_11199---11199.002 | |
Causal |
- |
|
19 |
3059 |
19_11199---11199.005 | |
Causal |
- |
|
19 |
3060 |
19_14056---14056.001 | |
Causal |
- |
|
19 |
3061 |
19_14056---14056.002 | |
Causal |
- |
|
19 |
3062 |
19_14056---14056.003 | |
Causal |
- |
|
19 |
3063 |
19_15527---15527.001 | |
Causal |
- |
|
19 |
3064 |
19_15527---15527.002 | |
Causal |
- |
|
19 |
3500 |
37_P05.03-E3225--- | |
Causal |
- |
|
37 |
3501 |
37_P05.03-E2899--- | |
Causal |
- |
|
37 |
3502 |
37_P08.28-E1165094978/958 | |
Causal |
- |
|
37 |
3503 |
37_P08.28-E1164994969/958 | |
Causal |
- |
|
37 |
4004 |
7_8719812889G07360 | |
Causal |
- |
|
7 |
4005 |
7_8719812890G07362 | |
Causal |
- |
|
7 |
4173 |
SO_-1743G00241G00241 | |
Causal |
- |
|
71 |
4174 |
SO_-1743G00242G00242 | |
Causal |
- |
|
71 |
4175 |
SO_-1743G00243G00243 | |
Causal |
- |
|
71 |
4184 |
SO_-1071G00291G00291 | |
Causal |
- |
|
71 |
4185 |
SO_-1071G00294G00294 | |
Causal |
- |
|
71 |
4192 |
SO_-1071G00316G00316 | |
Causal |
- |
|
71 |
4210 |
SO_-1787G00420G00420 | |
Causal |
- |
|
71 |
4211 |
SO_-1787G00421G00421 | |
Causal |
- |
|
71 |
4238 |
SO_-1336G00555G00555 | |
Causal |
- |
|
71 |
4380 |
SO_-1336G01240G01240 | |
Causal |
- |
|
71 |
4381 |
SO_-1336G01241G01241 | |
Causal |
- |
|
71 |
4383 |
SO_-1336G01247G01247 | |
Causal |
- |
|
71 |
4384 |
SO_-1336G01251G01251 | |
Causal |
- |
|
71 |
4471 |
SO_-527G01633G01633 | |
Causal |
- |
|
71 |
4649 |
SO_-2392G02802G02802 | |
Causal |
- |
|
71 |
4678 |
SO_-3006G03008G03008 | |
Causal |
- |
|
71 |
4714 |
SO_-3128G03281G03281 | |
Causal |
- |
|
71 |
4745 |
SO_-3223G03467G03467 | |
Causal |
- |
|
71 |
4772 |
SO_-3393G03727G03727 | |
Causal |
- |
|
71 |
5012 |
SO_-1071G04869G04869 | |
Causal |
- |
|
71 |
5229 |
SO_-3223G06266G06266 | |
Causal |
- |
|
71 |
5392 |
SO_-1743G08102G08102 | |
Causal |
- |
|
71 |
5417 |
SO_-5422G08391G08391 | |
Causal |
- |
|
71 |
5419 |
SO_-95G08426G08426 | |
Causal |
- |
|
71 |
5442 |
SO_-5422G08762G08762 | |
Causal |
- |
|
71 |
5717 |
SO_-3223KS0512KS0512 | |
Causal |
- |
|
71 |
|
1072C>T |
c.1072C>T |
9 |
|
p.Gln358X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4087 |
7_124741011988E101881 | |
Causal |
- |
|
7 |
|
1192A>T |
c.1192A>T |
9 |
|
p.Lys398X |
|
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2336 |
4_37313---37313 | |
Causal |
- |
|
4 |
3454 |
37_P07.12-E6122--- | |
Causal |
- |
|
37 |
3455 |
37_P07.12-E20217131285 | |
Causal |
- |
|
37 |
3456 |
37_P09.033-E1020786020 | |
Causal |
- |
|
37 |
5725 |
37_P07.12-E21339135525 | |
Causal |
- |
|
37 |
|
1213C>T |
c.1213C>T |
9 |
|
p.Arg405X |
|
Causal |
unvalidated |
00/00/00 |
22  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5809 |
19_29910---29910-001 | |
Causal |
- |
|
19 |
2357 |
4_36453---36453 | |
Causal |
- |
|
4 |
2646 |
10_APC-126---1594P | |
Causal |
- |
|
10 |
2647 |
10_APC-126---2061P | |
Causal |
- |
|
10 |
2648 |
10_APC-126---2062P | |
Causal |
- |
|
10 |
2649 |
10_APC-126---2176P | |
Causal |
- |
|
10 |
2650 |
10_APC-171---2265P | |
Causal |
- |
|
10 |
2986 |
19_23741---23741-001 | |
Causal |
- |
|
19 |
3224 |
33_PSL2676---09-1230 | |
Causal |
- |
|
33 |
3225 |
33_PSL2566---09-895 | |
Causal |
- |
|
33 |
3944 |
7_7235710487E070804 | |
Causal |
- |
|
7 |
3950 |
7_8282711933E082291 | |
Causal |
- |
|
7 |
4043 |
7_7235911640E091919 | |
Causal |
- |
|
7 |
4046 |
7_7235912069E092326 | |
Causal |
- |
|
7 |
4063 |
7_72351010564E100604 | |
Causal |
- |
|
7 |
4082 |
7_72351011773E101635 | |
Causal |
- |
|
7 |
4105 |
7_72351110523E110483 | |
Causal |
- |
|
7 |
4106 |
7_72351110525E110477 | |
Causal |
- |
|
7 |
4107 |
7_72351110526E110479 | |
Causal |
- |
|
7 |
5225 |
SO_-4196G06221G06221 | |
Causal |
- |
|
71 |
5360 |
SO_-4196G07711G07711 | |
Causal |
- |
|
71 |
5384 |
SO_-5238G07982G07982 | |
Causal |
- |
|
71 |
|
1234C>T |
c.1234C>T |
9 |
|
p.Gln412X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3216 |
33_PSL768---06-1033 | |
Causal |
- |
|
33 |
|
1248C>G |
c.1248C>G |
9 |
|
p.Tyr416X |
|
Causal |
French MMR network |
25/02/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3093 |
20_2355-05---8713 | |
Causal |
- |
|
20 |
|
1263G>A |
c.1263G>A |
9 |
|
p.Trp421X |
|
Causal |
unvalidated |
00/00/00 |
16  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5795 |
10_APC-39---3545 P | |
Causal |
- |
|
10 |
5856 |
10_APC-212---3383 P | |
Causal |
- |
|
10 |
2651 |
10_APC-039---403P | |
Causal |
- |
|
10 |
2652 |
10_APC-039---730P | |
Causal |
- |
|
10 |
2653 |
10_APC-039---731P | |
Causal |
- |
|
10 |
2654 |
10_APC-065---744P | |
Causal |
- |
|
10 |
2655 |
10_APC-125---59P | |
Causal |
- |
|
10 |
2656 |
10_APC-125---60P | |
Causal |
- |
|
10 |
2657 |
10_APC-125---2135P | |
Causal |
- |
|
10 |
3464 |
37_P98.04193--- | |
Causal |
- |
|
37 |
3465 |
37_P98.04773--- | |
Causal |
- |
|
37 |
3466 |
37_P98.04772--- | |
Causal |
- |
|
37 |
3752 |
SO_-50621632163 | |
Causal |
- |
|
71 |
4298 |
SO_-506G00865G00865 | |
Causal |
- |
|
71 |
5726 |
10_APC-39---2866 P | |
Causal |
- |
|
10 |
5196 |
SO_-4025G05886G05886 | |
Causal |
- |
|
71 |
|
1264G>T |
c.1264G>T |
9 |
|
p.Glu422X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2628 |
10_APC-165---2093P | |
Causal |
- |
|
10 |
3594 |
SO_-93382382 | |
Causal |
- |
|
71 |
|
1270C>T |
c.1270C>T |
9 |
|
p.Gln424X |
|
Causal |
unvalidated |
00/00/00 |
8  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2337 |
4_32042---32042 | |
Causal |
- |
|
4 |
2338 |
4_32042---33929 | |
Causal |
- |
|
4 |
3552 |
SO_-30166166 | |
Causal |
- |
|
71 |
3553 |
SO_-30167167 | |
Causal |
- |
|
71 |
3554 |
SO_-30168168 | |
Causal |
- |
|
71 |
3803 |
SO_-3035783578 | |
Causal |
- |
|
71 |
5404 |
SO_-3678G08237G08237 | |
Causal |
- |
|
71 |
5405 |
SO_-3678G08238G08238 | |
Causal |
- |
|
71 |
|
1370C>A |
c.1370C>A |
10 |
|
p.Ser457X |
ASEF binding domain ARM1 |
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5490 |
7_-5797ILP0411814E041232 | |
Causal |
- |
|
7 |
5612 |
7_-5797ILP0611294E061277 | |
Causal |
- |
|
7 |
5633 |
7_-5797ILP0611900E070131 | |
Causal |
- |
|
7 |
5634 |
7_-5797ILP0611901E070130 | |
Causal |
- |
|
7 |
5662 |
7_-5797ILP0710381E070563 | |
Causal |
- |
|
7 |
|
1370C>G |
c.1370C>G |
10 |
|
p.Ser457X |
ASEF binding domain ARM1 |
Causal |
French MMR network |
25/02/15 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2658 |
10_APC-132---168P | |
Causal |
- |
|
10 |
2659 |
10_APC-132---291P | |
Causal |
- |
|
10 |
2660 |
10_APC-132---293P | |
Causal |
- |
|
10 |
4171 |
SO_-1282G00229G00229 | |
Causal |
- |
|
71 |
4343 |
SO_-2230G01109G01109 | |
Causal |
- |
|
71 |
4594 |
SO_-2230G02426G02426 | |
Causal |
- |
|
71 |
|
1411G>T |
c.1411G>T |
11 |
|
p.Gly471X |
ASEF binding domain ARM1 |
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3797 |
SO_-60233363336 | |
Causal |
- |
|
71 |
3820 |
SO_-60238263826 | |
Causal |
- |
|
71 |
4889 |
SO_-602G04388G04388 | |
Causal |
- |
|
71 |
5104 |
SO_-602G05361G05361 | |
Causal |
- |
|
71 |
|
1438C>T |
c.1438C>T |
11 |
|
p.Gln480X |
ASEF binding domain ARM1 |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2320 |
4_24730---11968 | |
Causal |
- |
|
4 |
2321 |
4_24730---24730 | |
Causal |
- |
|
4 |
|
1479C>G |
c.1479C>G |
11 |
|
p.Tyr493X |
ASEF binding domain ARM1 |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2339 |
4_16127---16125 | |
Causal |
- |
|
4 |
2340 |
4_16127---16129 | |
Causal |
- |
|
4 |
2341 |
4_16127---16127 | |
Causal |
- |
|
4 |
|
1495C>T |
c.1495C>T |
11 |
|
p.Arg499X |
ASEF binding domain ARM2 |
Causal |
unvalidated |
00/00/00 |
35  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2358 |
4_30681---30681 | |
Causal |
- |
|
4 |
2359 |
4_------33770 | |
Causal |
- |
|
4 |
2661 |
10_APC-001---759G | |
Causal |
- |
|
10 |
2662 |
10_APC-001---37P | |
Causal |
- |
|
10 |
2663 |
10_APC-001---76P | |
Causal |
- |
|
10 |
2664 |
10_APC-001---77P | |
Causal |
- |
|
10 |
2665 |
10_APC-001---104P | |
Causal |
- |
|
10 |
2666 |
10_APC-001---128P | |
Causal |
- |
|
10 |
2667 |
10_APC-001---408P | |
Causal |
- |
|
10 |
2668 |
10_APC-001---409P | |
Causal |
- |
|
10 |
2669 |
10_APC-001---683P | |
Causal |
- |
|
10 |
2987 |
19_19113---19113.001 | |
Causal |
- |
|
19 |
3097 |
20_3547-01---13643 | |
Causal |
- |
|
20 |
3226 |
33_SAT345---08-990 | |
Causal |
- |
|
33 |
3227 |
33_SAT345---08-992 | |
Causal |
- |
|
33 |
3467 |
37_P11.013-E15426120993 | |
Causal |
- |
|
37 |
3571 |
SO_-57262262 | |
Causal |
- |
|
71 |
3572 |
SO_-57263263 | |
Causal |
- |
|
71 |
3629 |
SO_-307761761 | |
Causal |
- |
|
71 |
3795 |
SO_-39833073307 | |
Causal |
- |
|
71 |
3872 |
SO_-95353075307 | |
Causal |
- |
|
71 |
4204 |
SO_-1111G00396G00396 | |
Causal |
- |
|
71 |
4289 |
SO_-307G00759G00759 | |
Causal |
- |
|
71 |
4326 |
SO_-2184G01020G01020 | |
Causal |
- |
|
71 |
4327 |
SO_-2184G01021G01021 | |
Causal |
- |
|
71 |
4479 |
SO_-539G01642G01642 | |
Causal |
- |
|
71 |
4551 |
SO_-2519G02029G02029 | |
Causal |
- |
|
71 |
4878 |
SO_-539G04302G04302 | |
Causal |
- |
|
71 |
4879 |
SO_-539G04304G04304 | |
Causal |
- |
|
71 |
4880 |
SO_-539G04323G04323 | |
Causal |
- |
|
71 |
4957 |
SO_-953G04777G04777 | |
Causal |
- |
|
71 |
5018 |
SO_-398G04886G04886 | |
Causal |
- |
|
71 |
5116 |
SO_-3919G05520G05520 | |
Causal |
- |
|
71 |
5169 |
SO_-57G05684G05684 | |
Causal |
- |
|
71 |
5279 |
SO_-3919G06901G06901 | |
Causal |
- |
|
71 |
|
1594C>T |
c.1594C>T |
12 |
|
p.Gln532X |
ASEF binding domain ARM2 |
Causal |
French MMR network |
25/03/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5851 |
10_APC-208---3256 P | |
Causal |
- |
|
10 |
|
1600A>T |
c.1600A>T |
12 |
|
p.Lys534X |
ASEF binding domain ARM2 |
Causal |
French MMR network |
4/03/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5810 |
19_29985---29985-001 | |
Causal |
- |
|
19 |
|
1621C>T |
c.1621C>T |
12 |
|
p.Gln541X |
ASEF binding domain ARM2 |
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3217 |
33_SAT246---09-987 | |
Causal |
- |
|
33 |
3218 |
33_SAT426---09-985 | |
Causal |
- |
|
33 |
4672 |
SO_-2365G02949G02949 | |
Causal |
- |
|
71 |
4677 |
SO_-2365G03003G03003 | |
Causal |
- |
|
71 |
4690 |
SO_-2365G03059G03059 | |
Causal |
- |
|
71 |
4778 |
SO_-3467G03773G03773 | |
Causal |
- |
|
71 |
5227 |
SO_-3467G06238G06238 | |
Causal |
- |
|
71 |
5353 |
SO_-5055G07694G07694 | |
Causal |
- |
|
71 |
5416 |
SO_2027G08382G08382 | |
Causal |
- |
|
71 |
5460 |
SO_-2365G08910G08910 | |
Causal |
- |
|
71 |
5505 |
7_-5055ILP0510302E050416 | |
Causal |
- |
|
7 |
|
1660C>T |
c.1660C>T |
13 |
|
p.Arg554X |
ASEF binding domain ARM3 |
Causal |
unvalidated |
00/00/00 |
28  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2408 |
4_17964---17964 | |
Causal |
- |
|
4 |
3251 |
33_PSL464---06-073 | |
Causal |
- |
|
33 |
3252 |
33_PSL464---06-229 | |
Causal |
- |
|
33 |
3511 |
37_P01.05887--- | |
Causal |
- |
|
37 |
3689 |
SO_-40410561056 | |
Causal |
- |
|
71 |
3750 |
SO_-40421122112 | |
Causal |
- |
|
71 |
3757 |
SO_-53622502250 | |
Causal |
- |
|
71 |
3762 |
SO_-54223002300 | |
Causal |
- |
|
71 |
3790 |
SO_-46032443244 | |
Causal |
- |
|
71 |
3874 |
SO_-96055515551 | |
Causal |
- |
|
71 |
3877 |
SO_-7857205720 | |
Causal |
- |
|
71 |
3989 |
7_-2039811554E081661 | |
Causal |
- |
|
7 |
4037 |
7_-2039910966E091032 | |
Causal |
- |
|
7 |
4286 |
SO_-2039G00737G00737 | |
Causal |
- |
|
71 |
4424 |
SO_-2372G01411G01411 | |
Causal |
- |
|
71 |
4456 |
SO_-460G01600G01600 | |
Causal |
- |
|
71 |
4477 |
SO_-536G01640G01640 | |
Causal |
- |
|
71 |
4552 |
SO_-2039G02038G02038 | |
Causal |
- |
|
71 |
4596 |
SO_-542G02438G02438 | |
Causal |
- |
|
71 |
4604 |
SO_-2039G02518G02518 | |
Causal |
- |
|
71 |
4877 |
SO_-536G04293G04293 | |
Causal |
- |
|
71 |
4999 |
SO_-78G04853G04853 | |
Causal |
- |
|
71 |
5016 |
SO_-1122G04874G04874 | |
Causal |
- |
|
71 |
5218 |
SO_-4140G06112G06112 | |
Causal |
- |
|
71 |
5379 |
SO_-460G07886G07886 | |
Causal |
- |
|
71 |
5464 |
SO_-4140G08955G08955 | |
Causal |
- |
|
71 |
5525 |
7_-2039ILP0510947E050741 | |
Causal |
- |
|
7 |
5690 |
7_-2039ILP0711119E071398 | |
Causal |
- |
|
7 |
|
1690C>T |
c.1690C>T |
13 |
|
p.Arg564X |
ASEF binding domain ARM3 |
Causal |
unvalidated |
00/00/00 |
40  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5811 |
19_27839---27839.001 | |
Causal |
- |
|
19 |
5812 |
19_27839---27839.002 | |
Causal |
- |
|
19 |
2360 |
4_39886---39886 | |
Causal |
- |
|
4 |
2424 |
SO-2890------ | |
Causal |
- |
|
71 |
2670 |
10_APC-177---2615P | |
Causal |
- |
|
10 |
2671 |
10_APC-012---53P | |
Causal |
- |
|
10 |
2672 |
10_APC-012---120P | |
Causal |
- |
|
10 |
2988 |
19_16263---16263.001 | |
Causal |
- |
|
19 |
3228 |
33_PSL490---06-297 | |
Causal |
- |
|
33 |
3229 |
33_PSL490---06-298 | |
Causal |
- |
|
33 |
3468 |
37_P98.02209--- | |
Causal |
- |
|
37 |
3469 |
37_P98.16210--- | |
Causal |
- |
|
37 |
3470 |
37_P07.08-E602957282 | |
Causal |
- |
|
37 |
3471 |
37_P07.08-E603057283 | |
Causal |
- |
|
37 |
3472 |
37_P07.08-E603257284 | |
Causal |
- |
|
37 |
3473 |
37_P07.08-E603857294 | |
Causal |
- |
|
37 |
3538 |
SO_-14116116 | |
Causal |
- |
|
71 |
3616 |
SO_-226616616 | |
Causal |
- |
|
71 |
3824 |
SO_-1438943894 | |
Causal |
- |
|
71 |
3825 |
SO_-1438953895 | |
Causal |
- |
|
71 |
3832 |
SO_-1439773977 | |
Causal |
- |
|
71 |
3833 |
SO_-1439783978 | |
Causal |
- |
|
71 |
3836 |
SO_-1440054005 | |
Causal |
- |
|
71 |
4242 |
SO_-1321G00563G00563 | |
Causal |
- |
|
71 |
4253 |
SO_-1851G00589G00589 | |
Causal |
- |
|
71 |
4296 |
SO_-2101G00846G00846 | |
Causal |
- |
|
71 |
4303 |
SO_-972G00878G00878 | |
Causal |
- |
|
71 |
4385 |
SO_-972G01252G01252 | |
Causal |
- |
|
71 |
4414 |
SO_-14G01368G01368 | |
Causal |
- |
|
71 |
4512 |
SO_-2440G01808G01808 | |
Causal |
- |
|
71 |
4557 |
SO_-175G02115G02115 | |
Causal |
- |
|
71 |
4706 |
SO_-14G03191G03191 | |
Causal |
- |
|
71 |
4828 |
SO_-226G04128G04128 | |
Causal |
- |
|
71 |
4979 |
SO_-972G04819G04819 | |
Causal |
- |
|
71 |
5042 |
SO_-972G05070G05070 | |
Causal |
- |
|
71 |
5387 |
SO_-175G08058G08058 | |
Causal |
- |
|
71 |
5463 |
SO_-5710G08943G08943 | |
Causal |
- |
|
71 |
5651 |
7_-6491ILP0612119--- | |
Causal |
- |
|
7 |
5652 |
7_-6491ILP0612120E070252 | |
Causal |
- |
|
7 |
5653 |
7_-6491ILP0612121--- | |
Causal |
- |
|
7 |
|
1730T>G |
c.1730T>G |
13 |
|
p.Leu577X |
ASEF binding domain ARM3 |
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3716 |
SO_-46412461246 | |
Causal |
- |
|
71 |
3933 |
SO_-409097069706 | |
Causal |
- |
|
71 |
3953 |
7_-4090804580E091573 | |
Causal |
- |
|
7 |
4015 |
7_11201906046E100157 | |
Causal |
- |
|
7 |
4101 |
7_57531110216E110583 | |
Causal |
- |
|
7 |
4140 |
SO_-464G00085G00085 | |
Causal |
- |
|
71 |
4169 |
SO_-464G00226G00226 | |
Causal |
- |
|
71 |
4170 |
SO_-464G00228G00228 | |
Causal |
- |
|
71 |
5212 |
SO_-4090G06031G06031 | |
Causal |
- |
|
71 |
5371 |
SO_-464G07786G07786 | |
Causal |
- |
|
71 |
5716 |
SO_-464KS0497KS0497 | |
Causal |
- |
|
71 |
|
1732G>T |
c.1732G>T |
13 |
|
p.Glu578X |
ASEF binding domain ARM3 |
Causal |
French MMR network |
4/03/15 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5813 |
19_27039---27039.001 | |
Causal |
- |
|
19 |
5814 |
19_27039---27039-002 | |
Causal |
- |
|
19 |
|
1738A>T |
c.1738A>T |
13 |
|
p.Lys580X |
ASEF binding domain ARM3 |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3981 |
7_9119811213E081381 | |
Causal |
- |
|
7 |
4023 |
7_9119910287E090445 | |
Causal |
- |
|
7 |
|
1756A>T |
c.1756A>T |
14 |
|
p.Lys586X |
ASEF binding domain ARM3 |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2422 |
SO-3603---G04977 | |
Causal |
- |
|
71 |
4802 |
SO_-3509G03954G03954 | |
Causal |
- |
|
71 |
5193 |
SO_-3509G05825G05825 | |
Causal |
- |
|
71 |
|
1775T>G |
c.1775T>G |
14 |
|
p.Leu592X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3474 |
37_P07.10-E646961567 | |
Causal |
- |
|
37 |
5161 |
SO_-340G05666G05666 | |
Causal |
- |
|
71 |
5382 |
SO_-340G07940G07940 | |
Causal |
- |
|
71 |
|
1797C>A |
c.1797C>A |
14 |
|
p.Cys599X |
ASEF binding domain ARM4 |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2673 |
10_APC-028---210P | |
Causal |
- |
|
10 |
2674 |
10_APC-28---2059P | |
Causal |
- |
|
10 |
|
1866C>A |
c.1866C>A |
14 |
|
p.Tyr622X |
ASEF binding domain ARM4 |
Causal |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2324 |
4_30679---30679 | |
Causal |
- |
|
4 |
3544 |
SO_-26150150 | |
Causal |
- |
|
71 |
3545 |
SO_-26151151 | |
Causal |
- |
|
71 |
3546 |
SO_-26153153 | |
Causal |
- |
|
71 |
3547 |
SO_-26155155 | |
Causal |
- |
|
71 |
3548 |
SO_-26156156 | |
Causal |
- |
|
71 |
3549 |
SO_-26157157 | |
Causal |
- |
|
71 |
|
1886T>G |
c.1886T>G |
14 |
|
p.Leu629X |
ASEF binding domain ARM4 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3475 |
37_P09.06-E868781784 | |
Causal |
- |
|
37 |
|
1934T>A |
c.1934T>A |
14 |
|
p.Leu645X |
ASEF binding domain ARM5 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4496 |
SO_-2409G01718G01718 | |
Causal |
- |
|
71 |
|
1948G>T |
c.1948G>T |
14 |
|
p.Glu650X |
ASEF binding domain ARM5 |
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3457 |
37_P11.08-E14845--- | |
Causal |
- |
|
37 |
3958 |
7_8390810176E080302 | |
Causal |
- |
|
7 |
3959 |
7_-285810178E080303 | |
Causal |
- |
|
7 |
4500 |
SO_-285G01730G01730 | |
Causal |
- |
|
71 |
4641 |
SO_-285G02732G02732 | |
Causal |
- |
|
71 |
4770 |
SO_-285G03719G03719 | |
Causal |
- |
|
71 |
5130 |
SO_-285G05584G05584 | |
Causal |
- |
|
71 |
5216 |
SO_-285G06089G06089 | |
Causal |
- |
|
71 |
5243 |
SO_-285G06460G06460 | |
Causal |
- |
|
71 |
5430 |
SO_-285G08565G08565 | |
Causal |
- |
|
71 |
5453 |
SO_-285G08829G08829 | |
Causal |
- |
|
71 |
|
1999C>T |
c.1999C>T |
15 |
|
p.Gln667X |
ASEF binding domain ARM5 |
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3559 |
SO_-37186186 | |
Causal |
- |
|
71 |
5066 |
SO_-4126G05292G05292 | |
Causal |
- |
|
71 |
5217 |
SO_-4126G06093G06093 | |
Causal |
- |
|
71 |
5365 |
SO_-37G07729G07729 | |
Causal |
- |
|
71 |
|
2044G>T |
c.2044G>T |
15 |
|
p.Gly682X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4792 |
SO_-471G03873G03873 | |
Causal |
- |
|
71 |
5207 |
SO_-471G05997G05997 | |
Causal |
- |
|
71 |
5208 |
SO_-471G06001G06001 | |
Causal |
- |
|
71 |
5209 |
SO_-471G06012G06012 | |
Causal |
- |
|
71 |
|
2054G>A |
c.2054G>A |
15 |
|
p.Trp685X |
ASEF binding domain ARM6 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3633 |
SO_-323783783 | |
Causal |
- |
|
71 |
|
2055G>A |
c.2055G>A |
15 |
|
p.Trp685X |
ASEF binding domain ARM6 |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3688 |
SO_-39910511051 | |
Causal |
- |
|
71 |
3829 |
SO_-39939333933 | |
Causal |
- |
|
71 |
|
2096G>A |
c.2096G>A |
15 |
|
p.Trp699X |
ASEF binding domain ARM6 |
Causal |
unvalidated |
00/00/00 |
8  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4667 |
SO_-159G02895G02895 | |
Causal |
- |
|
71 |
4722 |
SO_-159G03309G03309 | |
Causal |
- |
|
71 |
4743 |
SO_-159G03448G03448 | |
Causal |
- |
|
71 |
5233 |
SO_-4235G06312G06312 | |
Causal |
- |
|
71 |
5602 |
7_-4235ILP0611132E060904 | |
Causal |
- |
|
7 |
5603 |
7_-4235ILP0611134E060906 | |
Causal |
- |
|
7 |
5604 |
7_-4235ILP0611135E060905 | |
Causal |
- |
|
7 |
5605 |
7_-4235ILP0611136E060907 | |
Causal |
- |
|
7 |
|
2138C>G |
c.2138C>G |
15 |
|
p.Ser713X |
ASEF binding domain ARM6 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3935 |
7_5126503200E051064 | |
Causal |
- |
|
7 |
|
2240C>G |
c.2240C>G |
15 |
|
p.Ser747X |
ASEF binding domain ARM7 |
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4055 |
7_128811006440E110082 | |
Causal |
- |
|
7 |
4548 |
SO_-2514G01995G01995 | |
Causal |
- |
|
71 |
5311 |
SO_-2514G07165G07165 | |
Causal |
- |
|
71 |
5514 |
7_-5953ILP0510694E050600 | |
Causal |
- |
|
7 |
|
2246T>A |
c.2246T>A |
15 |
|
p.Leu749X |
ASEF binding domain ARM7 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2342 |
4_25899---25899 | |
Causal |
- |
|
4 |
|
2287G>T |
c.2287G>T |
15 |
|
p.Glu763X |
ASEF binding domain ARM7 |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2611 |
10_APC-007---19P | |
Causal |
- |
|
10 |
4503 |
SO_-2424G01745G01745 | |
Causal |
- |
|
71 |
5103 |
SO_-601G05360G05360 | |
Causal |
- |
|
71 |
|
2309C>G |
c.2309C>G |
15 |
|
p.Ser770X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5628 |
7_-6425ILP0611792E061777 | |
Causal |
- |
|
7 |
|
2344A>T |
c.2344A>T |
15 |
|
p.Lys782X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4392 |
SO_-260G01283G01283 | |
Causal |
- |
|
71 |
|
2365C>T |
c.2365C>T |
15 |
|
p.Gln789X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3458 |
37_P05.022785--- | |
Causal |
- |
|
37 |
3615 |
SO_-205586586 | |
Causal |
- |
|
71 |
5565 |
7_-6105ILP0512460E051378 | |
Causal |
- |
|
7 |
5637 |
7_-6105ILP0611953E061717 | |
Causal |
- |
|
7 |
|
2377C>T |
c.2377C>T |
15 |
|
p.Gln793X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2612 |
10_APC-150---1979P | |
Causal |
- |
|
10 |
2613 |
10_APC-150---2141P | |
Causal |
- |
|
10 |
|
2413C>T |
c.2413C>T |
15 |
|
p.Arg805X |
|
Causal |
unvalidated |
00/00/00 |
43  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5766 |
37_P01.0626102154341 | |
Causal |
- |
|
37 |
2361 |
4_19238---19238 | |
Causal |
- |
|
4 |
2362 |
4_17868---17868 | |
Causal |
- |
|
4 |
2363 |
4_17868---30104 | |
Causal |
- |
|
4 |
2364 |
4_17868---39540 | |
Causal |
- |
|
4 |
2675 |
10_APC-099---1199P | |
Causal |
- |
|
10 |
2676 |
10_APC-099---1357P | |
Causal |
- |
|
10 |
3476 |
37_P98.03211--- | |
Causal |
- |
|
37 |
3477 |
37_P98.03211--- | |
Causal |
- |
|
37 |
3478 |
37_P01.061039--- | |
Causal |
- |
|
37 |
3479 |
37_P98.03234--- | |
Causal |
- |
|
37 |
3480 |
37_P98.031046988073/90332 | |
Causal |
- |
|
37 |
3481 |
37_P98.03242--- | |
Causal |
- |
|
37 |
3482 |
37_P98.031047188075/90334 | |
Causal |
- |
|
37 |
3483 |
37_P98.031047088074/90333 | |
Causal |
- |
|
37 |
3484 |
37_P01.067174--- | |
Causal |
- |
|
37 |
3595 |
SO_-97386386 | |
Causal |
- |
|
71 |
3691 |
SO_-41110851085 | |
Causal |
- |
|
71 |
3692 |
SO_-41110861086 | |
Causal |
- |
|
71 |
3693 |
SO_-41110871087 | |
Causal |
- |
|
71 |
3694 |
SO_-41110881088 | |
Causal |
- |
|
71 |
3695 |
SO_-41110891089 | |
Causal |
- |
|
71 |
3696 |
SO_-41110911091 | |
Causal |
- |
|
71 |
3697 |
SO_-41110951095 | |
Causal |
- |
|
71 |
3724 |
SO_-41117581758 | |
Causal |
- |
|
71 |
3725 |
SO_-41117601760 | |
Causal |
- |
|
71 |
4293 |
SO_-1081G00814G00814 | |
Causal |
- |
|
71 |
4294 |
SO_-1081G00815G00815 | |
Causal |
- |
|
71 |
4328 |
SO_-1081G01031G01031 | |
Causal |
- |
|
71 |
4329 |
SO_-1081G01034G01034 | |
Causal |
- |
|
71 |
4367 |
SO_-6G01199G01199 | |
Causal |
- |
|
71 |
4412 |
SO_-2356G01365G01365 | |
Causal |
- |
|
71 |
4442 |
SO_-364G01579G01579 | |
Causal |
- |
|
71 |
4524 |
SO_-1081G01861G01861 | |
Causal |
- |
|
71 |
4836 |
SO_-364G04168G04168 | |
Causal |
- |
|
71 |
4837 |
SO_-364G04169G04169 | |
Causal |
- |
|
71 |
4838 |
SO_-364G04170G04170 | |
Causal |
- |
|
71 |
4987 |
SO_-925G04835G04835 | |
Causal |
- |
|
71 |
5162 |
SO_-6G05667G05667 | |
Causal |
- |
|
71 |
5367 |
SO_-5076G07745G07745 | |
Causal |
- |
|
71 |
5455 |
SO_-5674G08861G08861 | |
Causal |
- |
|
71 |
5555 |
7_-5076ILP0512098E051113 | |
Causal |
- |
|
7 |
5556 |
7_-5076ILP0512099E051115 | |
Causal |
- |
|
7 |
|
2510C>G |
c.2510C>G |
15 |
|
p.Ser837X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2989 |
19_23568---23568-001 | |
Causal |
- |
|
19 |
|
2522T>G |
c.2522T>G |
15 |
|
p.Leu841X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5288 |
SO_-4579G06970G06970 | |
Causal |
- |
|
71 |
5358 |
SO_-5053G07703G07703 | |
Causal |
- |
|
71 |
|
2563G>T |
c.2563G>T |
15 |
|
p.Glu855X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5559 |
7_-6087ILP0512185E051237 | |
Causal |
- |
|
7 |
|
2626C>T |
c.2626C>T |
15 |
|
p.Arg876X |
|
Causal |
unvalidated |
00/00/00 |
35  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5774 |
37_P98.1224398147862 | |
Causal |
- |
|
37 |
5775 |
37_P98.1224397147861 | |
Causal |
- |
|
37 |
2425 |
SO-553---G01651 | |
Causal |
- |
|
71 |
2677 |
10_APC-027---198P | |
Causal |
- |
|
10 |
2990 |
19_14677---14677.001 | |
Causal |
- |
|
19 |
2991 |
19_14677---14677.002 | |
Causal |
- |
|
19 |
2992 |
19_14677---14677.003 | |
Causal |
- |
|
19 |
3485 |
37_P98.12205--- | |
Causal |
- |
|
37 |
3486 |
37_P01.131471--- | |
Causal |
- |
|
37 |
3487 |
37_P98.121185695677 | |
Causal |
- |
|
37 |
3611 |
SO_-171541541 | |
Causal |
- |
|
71 |
3612 |
SO_-171542542 | |
Causal |
- |
|
71 |
3613 |
SO_-171546546 | |
Causal |
- |
|
71 |
3909 |
SO_-28977707770 | |
Causal |
- |
|
71 |
4065 |
7_116411010647E100927 | |
Causal |
- |
|
7 |
4239 |
SO_-1243G00557G00557 | |
Causal |
- |
|
71 |
4311 |
SO_-192G00914G00914 | |
Causal |
- |
|
71 |
4376 |
SO_-1048G01231G01231 | |
Causal |
- |
|
71 |
4397 |
SO_-2340G01311G01311 | |
Causal |
- |
|
71 |
4440 |
SO_-192G01577G01577 | |
Causal |
- |
|
71 |
4498 |
SO_-2414G01728G01728 | |
Causal |
- |
|
71 |
4540 |
SO_-1243G01949G01949 | |
Causal |
- |
|
71 |
4541 |
SO_-1243G01950G01950 | |
Causal |
- |
|
71 |
4542 |
SO_-1243G01951G01951 | |
Causal |
- |
|
71 |
4543 |
SO_-1243G01955G01955 | |
Causal |
- |
|
71 |
4713 |
SO_-3133G03277G03277 | |
Causal |
- |
|
71 |
4827 |
SO_-192G04122G04122 | |
Causal |
- |
|
71 |
4946 |
SO_-1048G04637G04637 | |
Causal |
- |
|
71 |
4947 |
SO_-1048G04639G04639 | |
Causal |
- |
|
71 |
4967 |
SO_-1048G04800G04800 | |
Causal |
- |
|
71 |
5111 |
SO_-289G05438G05438 | |
Causal |
- |
|
71 |
5219 |
SO_-192G06203G06203 | |
Causal |
- |
|
71 |
5238 |
SO_-192G06377G06377 | |
Causal |
- |
|
71 |
5301 |
SO_-1243G07076G07076 | |
Causal |
- |
|
71 |
5313 |
SO_-4786G07173G07173 | |
Causal |
- |
|
71 |
|
2677G>T |
c.2677G>T |
15 |
|
p.Glu893X |
|
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2325 |
4_27310---27310 | |
Causal |
- |
|
4 |
2614 |
10_APC-052---603P | |
Causal |
- |
|
10 |
4262 |
SO_-1180G00636G00636 | |
Causal |
- |
|
71 |
5025 |
SO_-1180G04919G04919 | |
Causal |
- |
|
71 |
5709 |
7_-6325IPC0104910E060963 | |
Causal |
- |
|
7 |
|
2701C>T |
c.2701C>T |
15 |
|
p.Gln901X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2629 |
10_APC-024---143P | |
Causal |
- |
|
10 |
3975 |
7_8763810783E082027 | |
Causal |
- |
|
7 |
|
2752G>T |
c.2752G>T |
15 |
|
p.Glu918X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5735 |
19_21357---21357.002 | |
Causal |
- |
|
19 |
|
2767A>T |
c.2767A>T |
15 |
|
p.Arg923X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4027 |
7_10089910424E091608 | |
Causal |
- |
|
7 |
|
2795C>A |
c.2795C>A |
15 |
|
p.Ser932X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5380 |
SO_-5194G07922G07922 | |
Causal |
- |
|
71 |
|
2795C>G |
c.2795C>G |
15 |
|
p.Ser932X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2365 |
4_39981---39981 | |
Causal |
- |
|
4 |
5226 |
SO_-4190G06224G06224 | |
Causal |
- |
|
71 |
|
2805C>A |
c.2805C>A |
15 |
|
p.Tyr935X |
|
Causal |
unvalidated |
00/00/00 |
35  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5840 |
10_APC-202---3067 P | |
Causal |
- |
|
10 |
2326 |
4_33802---33802 | |
Causal |
- |
|
4 |
2327 |
4_43092---43092 | |
Causal |
- |
|
4 |
2616 |
10_APC-077---896P | |
Causal |
- |
|
10 |
2617 |
10_APC-094---1072P | |
Causal |
- |
|
10 |
3207 |
33_PSL2477---09-662, | |
Causal |
- |
|
33 |
3208 |
33_PSL860---06-1257 | |
Causal |
- |
|
33 |
3209 |
33_SAT0181---07-751 | |
Causal |
- |
|
33 |
3443 |
37_P01.02-E86974997 | |
Causal |
- |
|
37 |
3444 |
37_P01.02-E943381251 | |
Causal |
- |
|
37 |
3556 |
SO_-36181181 | |
Causal |
- |
|
71 |
3557 |
SO_-36182182 | |
Causal |
- |
|
71 |
3558 |
SO_-36183183 | |
Causal |
- |
|
71 |
3589 |
SO_-89364364 | |
Causal |
- |
|
71 |
3620 |
SO_-280707707 | |
Causal |
- |
|
71 |
3769 |
SO_-59925822582 | |
Causal |
- |
|
71 |
4006 |
7_-318812909E082382 | |
Causal |
- |
|
7 |
4060 |
7_114741010285E101299 | |
Causal |
- |
|
7 |
4151 |
SO_-253G00155G00155 | |
Causal |
- |
|
71 |
4158 |
SO_-1714G00183G00183 | |
Causal |
- |
|
71 |
4159 |
SO_-1714G00184G00184 | |
Causal |
- |
|
71 |
4160 |
SO_-1714G00185G00185 | |
Causal |
- |
|
71 |
4279 |
SO_640G00710G00710 | |
Causal |
- |
|
71 |
4283 |
SO_640G00730G00730 | |
Causal |
- |
|
71 |
4335 |
SO_-2176G01057G01057 | |
Causal |
- |
|
71 |
4679 |
SO_640G03025G03025 | |
Causal |
- |
|
71 |
4680 |
SO_640G03027G03027 | |
Causal |
- |
|
71 |
4709 |
SO_640G03208G03208 | |
Causal |
- |
|
71 |
5041 |
SO_-2176G05045G05045 | |
Causal |
- |
|
71 |
5056 |
SO_-36G05268G05268 | |
Causal |
- |
|
71 |
5736 |
10_APC-94---2800 P | |
Causal |
- |
|
10 |
5197 |
SO_-318G05892G05892 | |
Causal |
- |
|
71 |
5343 |
SO_-4997G07597G07597 | |
Causal |
- |
|
71 |
5535 |
7_-6014ILP0511268E050878 | |
Causal |
- |
|
7 |
5737 |
37_P02.09149012256 | |
Causal |
- |
|
37 |
|
2805C>G |
c.2805C>G |
15 |
|
p.Tyr935X |
|
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2630 |
10_APC-142---1663P | |
Causal |
- |
|
10 |
3219 |
33_PSL1360---07-1263 | |
Causal |
- |
|
33 |
3617 |
SO_-255664664 | |
Causal |
- |
|
71 |
3618 |
SO_-255665665 | |
Causal |
- |
|
71 |
3619 |
SO_-255666666 | |
Causal |
- |
|
71 |
4441 |
SO_-255G01578G01578 | |
Causal |
- |
|
71 |
4831 |
SO_-294G04146G04146 | |
Causal |
- |
|
71 |
4974 |
SO_-1035G04812G04812 | |
Causal |
- |
|
71 |
5048 |
SO_-3734G05132G05132 | |
Causal |
- |
|
71 |
5165 |
SO_-294G05670G05670 | |
Causal |
- |
|
71 |
5246 |
SO_-3734G06530G06530 | |
Causal |
- |
|
71 |
|
2828C>G |
c.2828C>G |
15 |
|
p.Ser943X |
|
Causal |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3488 |
37_P01.12608--- | |
Causal |
- |
|
37 |
3489 |
37_P01.121141--- | |
Causal |
- |
|
37 |
3490 |
37_P01.121142--- | |
Causal |
- |
|
37 |
3614 |
SO_-176552552 | |
Causal |
- |
|
71 |
3732 |
SO_-17619801980 | |
Causal |
- |
|
71 |
3733 |
SO_-17619811981 | |
Causal |
- |
|
71 |
4653 |
SO_-2897G02814G02814 | |
Causal |
- |
|
71 |
|
2853T>G |
c.2853T>G |
15 |
|
p.Tyr951X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2631 |
10_APC-014---71P | |
Causal |
- |
|
10 |
|
2868C>G |
c.2868C>G |
15 |
|
p.Tyr956X |
|
Causal |
unvalidated |
00/00/00 |
16  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2632 |
10_APC-023---140P | |
Causal |
- |
|
10 |
2633 |
10_APC-023---308P | |
Causal |
- |
|
10 |
2634 |
10_APC-023---364P | |
Causal |
- |
|
10 |
2971 |
19_16024---16024.001 | |
Causal |
- |
|
19 |
3717 |
SO_-214821482 | |
Causal |
- |
|
71 |
3888 |
SO_-274097409 | |
Causal |
- |
|
71 |
3889 |
SO_-274117411 | |
Causal |
- |
|
71 |
3890 |
SO_-274137413 | |
Causal |
- |
|
71 |
3891 |
SO_-274167416 | |
Causal |
- |
|
71 |
3904 |
SO_-276747674 | |
Causal |
- |
|
71 |
3905 |
SO_-276757675 | |
Causal |
- |
|
71 |
3906 |
SO_-276767676 | |
Causal |
- |
|
71 |
3907 |
SO_-276807680 | |
Causal |
- |
|
71 |
3992 |
7_9433811660E081739 | |
Causal |
- |
|
7 |
3993 |
7_9433811661E081740 | |
Causal |
- |
|
7 |
5274 |
SO_-2G06828G06828 | |
Causal |
- |
|
71 |
|
2891T>G |
c.2891T>G |
15 |
|
p.Leu964X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2366 |
4_36707---36707 | |
Causal |
- |
|
4 |
4998 |
SO_-141G04851G04851 | |
Causal |
- |
|
71 |
|
2932C>T |
c.2932C>T |
15 |
|
p.Gln978X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4685 |
SO_-1312G03048G03048 | |
Causal |
- |
|
71 |
4953 |
SO_-1312G04682G04682 | |
Causal |
- |
|
71 |
5466 |
SO_-1312G08969G08969 | |
Causal |
- |
|
71 |
|
2950G>T |
c.2950G>T |
15 |
|
p.Glu984X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4553 |
SO_-2536G02064G02064 | |
Causal |
- |
|
71 |
4554 |
SO_-2536G02066G02066 | |
Causal |
- |
|
71 |
|
2958T>A |
c.2958T>A |
15 |
|
p.Tyr986X |
|
Causal |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2618 |
10_APC-006---012P | |
Causal |
- |
|
10 |
2619 |
10_APC-006---234P | |
Causal |
- |
|
10 |
2620 |
10_APC-009---25P | |
Causal |
- |
|
10 |
2621 |
10_APC-009---138P | |
Causal |
- |
|
10 |
2622 |
10_APC-009---152P | |
Causal |
- |
|
10 |
4138 |
SO_-1679G00080G00080 | |
Causal |
- |
|
71 |
|
2985C>A |
c.2985C>A |
15 |
|
p.Cys995X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2367 |
4_26349---26349 | |
Causal |
- |
|
4 |
2426 |
SO-5718------ | |
Causal |
- |
|
71 |
4282 |
SO_-2067G00725G00725 | |
Causal |
- |
|
71 |
|
2991T>G |
c.2991T>G |
15 |
|
p.Tyr997X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4176 |
SO_-1112G00246G00246 | |
Causal |
- |
|
71 |
4295 |
SO_-1112G00821G00821 | |
Causal |
- |
|
71 |
5006 |
SO_-1112G04862G04862 | |
Causal |
- |
|
71 |
|
2995C>T |
c.2995C>T |
15 |
|
p.Gln999X |
|
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4966 |
SO_-1047G04794G04794 | |
Causal |
- |
|
71 |
5118 |
SO_-1047G05523G05523 | |
Causal |
- |
|
71 |
5119 |
SO_-1047G05524G05524 | |
Causal |
- |
|
71 |
5517 |
7_-1047ILP0510740E050566 | |
Causal |
- |
|
7 |
5518 |
7_-1047ILP0510742E050567 | |
Causal |
- |
|
7 |
|
3000C>A |
c.3000C>A |
15 |
|
p.Tyr1000X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2968 |
19_17286---17286.001 | |
Causal |
- |
|
19 |
|
3081T>A |
c.3081T>A |
15 |
|
p.Tyr1027X |
Beta-catenin binding domain 1 |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4501 |
SO_-2458G01734G01734 | |
Causal |
- |
|
71 |
4535 |
SO_-2458G01931G01931 | |
Causal |
- |
|
71 |
|
3103C>T |
c.3103C>T |
15 |
|
p.Gln1035X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3220 |
33_PSL1121---07-607 | |
Causal |
- |
|
33 |
3844 |
SO_-16542634263 | |
Causal |
- |
|
71 |
4825 |
SO_-165G04112G04112 | |
Causal |
- |
|
71 |
5067 |
SO_-165G05295G05295 | |
Causal |
- |
|
71 |
|
3133C>T |
c.3133C>T |
15 |
|
p.Gln1045X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2343 |
4_30404---30404 | |
Causal |
- |
|
4 |
4029 |
7_-2982910440E091576 | |
Causal |
- |
|
7 |
4673 |
SO_-2982G02976G02976 | |
Causal |
- |
|
71 |
|
3139G>T |
c.3139G>T |
15 |
|
p.Glu1047X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4123 |
SO_-1667G00026G00026 | |
Causal |
- |
|
71 |
4662 |
SO_-1667G02863G02863 | |
Causal |
- |
|
71 |
|
3146G>A |
c.3146G>A |
15 |
|
p.Trp1049X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3459 |
37_P12.01920449132050/132 | |
Causal |
- |
|
37 |
4578 |
SO_-2645G02296G02296 | |
Causal |
- |
|
71 |
|
3147G>A |
c.3147G>A |
15 |
|
p.Trp1049X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3233 |
33_PSL2167---08-1927 | |
Causal |
- |
|
33 |
|
3181A>T |
c.3181A>T |
15 |
|
p.Lys1061X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3721 |
SO_-1116641664 | |
Causal |
- |
|
71 |
3894 |
SO_-1175847584 | |
Causal |
- |
|
71 |
5677 |
7_-11ILP0710648E070851 | |
Causal |
- |
|
7 |
|
3184C>T |
c.3184C>T |
15 |
|
p.Gln1062X |
|
Causal |
unvalidated |
00/00/00 |
31  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3211 |
33_SAT154---07-269 | |
Causal |
- |
|
33 |
3970 |
7_-1887810696E080743 | |
Causal |
- |
|
7 |
3971 |
7_-1887810697E080742 | |
Causal |
- |
|
7 |
4001 |
7_-1887812495E082267 | |
Causal |
- |
|
7 |
4002 |
7_-1887812496E082268 | |
Causal |
- |
|
7 |
4117 |
7_-1887E041216E041216 | |
Causal |
- |
|
7 |
4269 |
SO_-1887G00677G00677 | |
Causal |
- |
|
71 |
4284 |
SO_-1887G00733G00733 | |
Causal |
- |
|
71 |
4285 |
SO_-1887G00734G00734 | |
Causal |
- |
|
71 |
5324 |
SO_-1887G07351G07351 | |
Causal |
- |
|
71 |
5400 |
SO_-1887G08189G08189 | |
Causal |
- |
|
71 |
5425 |
SO_-1887G08500G08500 | |
Causal |
- |
|
71 |
5426 |
SO_-1887G08503G08503 | |
Causal |
- |
|
71 |
5427 |
SO_-1887G08504G08504 | |
Causal |
- |
|
71 |
5456 |
SO_-1887G08878G08878 | |
Causal |
- |
|
71 |
5457 |
SO_-1887G08880G08880 | |
Causal |
- |
|
71 |
5472 |
SO_-1887G09047G09047 | |
Causal |
- |
|
71 |
5487 |
7_-1887ILP0411771E041063 | |
Causal |
- |
|
7 |
5488 |
7_-1887ILP0411782E041039 | |
Causal |
- |
|
7 |
5491 |
7_-1887ILP0411888E041051 | |
Causal |
- |
|
7 |
5492 |
7_-1887ILP0411889E041053 | |
Causal |
- |
|
7 |
5502 |
7_-1887ILP0510191E050289 | |
Causal |
- |
|
7 |
5503 |
7_-1887ILP0510192E050290 | |
Causal |
- |
|
7 |
5511 |
7_-1887ILP0510616E050449 | |
Causal |
- |
|
7 |
5550 |
7_-1887ILP0511919E051294 | |
Causal |
- |
|
7 |
5568 |
7_-1887ILP0512596E051481 | |
Causal |
- |
|
7 |
5594 |
7_-1887ILP0611011E060797 | |
Causal |
- |
|
7 |
5606 |
7_-1887ILP0611213E061034 | |
Causal |
- |
|
7 |
5644 |
7_-1887ILP0612062E070082 | |
Causal |
- |
|
7 |
5645 |
7_-1887ILP0612063E070083 | |
Causal |
- |
|
7 |
5707 |
7_-1887ILP0711910--- | |
Causal |
- |
|
7 |
|
3199C>T |
c.3199C>T |
15 |
|
p.Gln1067X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5631 |
7_-6433ILP0611846E070194 | |
Causal |
- |
|
7 |
|
3203C>G |
c.3203C>G |
15 |
|
p.Ser1068X |
|
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5819 |
10_APC-213---3425 P | |
Causal |
- |
|
10 |
2368 |
4_25670---25670 | |
Causal |
- |
|
4 |
2995 |
19_2328---2328.001 | |
Causal |
- |
|
19 |
2996 |
19_2328---2328.002 | |
Causal |
- |
|
19 |
3928 |
SO_-589658965 | |
Causal |
- |
|
71 |
3982 |
7_9133811288E090435 | |
Causal |
- |
|
7 |
5036 |
SO_-3676G04996G04996 | |
Causal |
- |
|
71 |
5182 |
SO_-5G05724G05724 | |
Causal |
- |
|
71 |
5266 |
SO_-3676G06709G06709 | |
Causal |
- |
|
71 |
5267 |
SO_-3676G06714G06714 | |
Causal |
- |
|
71 |
5540 |
7_-3676ILP0511423E050915 | |
Causal |
- |
|
7 |
|
3225T>A |
c.3225T>A |
15 |
|
p.Tyr1075X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4491 |
SO_-2398G01700G01700 | |
Causal |
- |
|
71 |
4492 |
SO_-2398G01701G01701 | |
Causal |
- |
|
71 |
|
3234T>A |
c.3234T>A |
15 |
|
p.Tyr1078X |
|
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2623 |
10_APC-064---741P | |
Causal |
- |
|
10 |
2624 |
10_APC-064---1013P | |
Causal |
- |
|
10 |
2625 |
10_APC-064---1014P | |
Causal |
- |
|
10 |
3212 |
33_SAT453---09-670 | |
Causal |
- |
|
33 |
3213 |
33_SAT453---09-672 | |
Causal |
- |
|
33 |
4362 |
SO_-492G01181G01181 | |
Causal |
- |
|
71 |
4363 |
SO_-492G01182G01182 | |
Causal |
- |
|
71 |
4438 |
SO_-149G01575G01575 | |
Causal |
- |
|
71 |
4822 |
SO_-149G04096G04096 | |
Causal |
- |
|
71 |
4823 |
SO_-149G04097G04097 | |
Causal |
- |
|
71 |
4995 |
SO_-492G04847G04847 | |
Causal |
- |
|
71 |
|
3283C>T |
c.3283C>T |
15 |
|
p.Gln1095X |
|
Causal |
unvalidated |
00/00/00 |
7  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4765 |
SO_-316G03642G03642 | |
Causal |
- |
|
71 |
4780 |
SO_-316G03834G03834 | |
Causal |
- |
|
71 |
4801 |
SO_-316G03934G03934 | |
Causal |
- |
|
71 |
4832 |
SO_-316G04154G04154 | |
Causal |
- |
|
71 |
5071 |
SO_-316G05299G05299 | |
Causal |
- |
|
71 |
5513 |
7_-5955ILP0510687E050599 | |
Causal |
- |
|
7 |
5611 |
7_-316ILP0611260E061035 | |
Causal |
- |
|
7 |
|
3286C>T |
c.3286C>T |
15 |
|
p.Gln1096X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2344 |
4_34080---34080 | |
Causal |
- |
|
4 |
2635 |
10_APC-168---2271P | |
Causal |
- |
|
10 |
5206 |
SO_-4065G05979G05979 | |
Causal |
- |
|
71 |
5423 |
SO_-4065G08439G08439 | |
Causal |
- |
|
71 |
|
3306C>A |
c.3306C>A |
15 |
|
p.Tyr1102X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4321 |
SO_-2171G01003G01003 | |
Causal |
- |
|
71 |
5298 |
SO_-2171G07069G07069 | |
Causal |
- |
|
71 |
5515 |
7_-2171ILP0510697E050570 | |
Causal |
- |
|
7 |
|
3329C>G |
c.3329C>G |
15 |
|
p.Ser1110X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2679 |
10_APC-044---513P | |
Causal |
- |
|
10 |
2680 |
10_APC-044---1815P | |
Causal |
- |
|
10 |
5524 |
7_-5984ILP0510929E050726 | |
Causal |
- |
|
7 |
|
3340C>T |
c.3340C>T |
15 |
|
p.Arg1114X |
|
Causal |
unvalidated |
00/00/00 |
9  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5796 |
10_APC-218---3554 P | |
Causal |
- |
|
10 |
2369 |
4_33902---33902 | |
Causal |
- |
|
4 |
2370 |
4_40625---40625 | |
Causal |
- |
|
4 |
2681 |
10_APC-040---405P | |
Causal |
- |
|
10 |
2997 |
19_10060---10060.001 | |
Causal |
- |
|
19 |
4704 |
SO_-3067G03162G03162 | |
Causal |
- |
|
71 |
4790 |
SO_-3433G03863G03863 | |
Causal |
- |
|
71 |
5386 |
SO_-3067G08031G08031 | |
Causal |
- |
|
71 |
5563 |
7_-6090ILP0512222E051236 | |
Causal |
- |
|
7 |
|
3441C>A |
c.3441C>A |
15 |
|
p.Tyr1147X |
Beta-catenin binding domain 2 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5655 |
7_-6545ILP0710225E070545 | |
Causal |
- |
|
7 |
|
3441C>G |
c.3441C>G |
15 |
|
p.Tyr1147X |
Beta-catenin binding domain 2 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5465 |
SO_-5700G08965G08965 | |
Causal |
- |
|
71 |
|
3454C>T |
c.3454C>T |
15 |
|
p.Gln1152X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2972 |
19_17875---17875.001 | |
Causal |
- |
|
19 |
|
3460G>T |
c.3460G>T |
15 |
|
p.Glu1154X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4645 |
SO_-2850G02752G02752 | |
Causal |
- |
|
71 |
5428 |
SO_-2850G08519G08519 | |
Causal |
- |
|
71 |
|
3523C>T |
c.3523C>T |
15 |
|
p.Gln1175X |
Beta-catenin binding domain 4 |
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2345 |
4_17169---17169 | |
Causal |
- |
|
4 |
2346 |
4_17169---43976 | |
Causal |
- |
|
4 |
3460 |
37_P11.09-E14901118388 | |
Causal |
- |
|
37 |
3461 |
37_P11.09-E18708127726 | |
Causal |
- |
|
37 |
|
3566C>G |
c.3566C>G |
15 |
|
p.Ser1189X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3940 |
7_1324603204E100373 | |
Causal |
- |
|
7 |
4054 |
7_13241000475E100371 | |
Causal |
- |
|
7 |
|
3577C>T |
c.3577C>T |
15 |
|
p.Gln1193X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3634 |
SO_-326786786 | |
Causal |
- |
|
71 |
3734 |
SO_-32619851985 | |
Causal |
- |
|
71 |
3735 |
SO_-32619901990 | |
Causal |
- |
|
71 |
|
3593C>G |
c.3593C>G |
15 |
|
p.Ser1198X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3234 |
33_PSL1049---07-444 | |
Causal |
- |
|
33 |
|
3602C>A |
c.3602C>A |
15 |
|
p.Ser1201X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5739 |
10_APC-191---2833 P | |
Causal |
- |
|
10 |
5845 |
10_APC-191---3159 P | |
Causal |
- |
|
10 |
2969 |
19_21781---21781-001 | |
Causal |
- |
|
19 |
|
3610C>T |
c.3610C>T |
15 |
|
p.Gln1204X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2626 |
10_APC-087---1001P | |
Causal |
- |
|
10 |
|
3682C>T |
c.3682C>T |
15 |
|
p.Gln1228X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5033 |
SO_-3648G04977G04977 | |
Causal |
- |
|
71 |
|
3688C>T |
c.3688C>T |
15 |
|
p.Gln1230X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4937 |
SO_-952G04606G04606 | |
Causal |
- |
|
71 |
4938 |
SO_-952G04607G04607 | |
Causal |
- |
|
71 |
4958 |
SO_-952G04778G04778 | |
Causal |
- |
|
71 |
5445 |
SO_-952G08773G08773 | |
Causal |
- |
|
71 |
|
3724C>T |
c.3724C>T |
15 |
|
p.Gln1242X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3991 |
7_4126811608E081647 | |
Causal |
- |
|
7 |
3996 |
7_4126811715E081766 | |
Causal |
- |
|
7 |
4034 |
7_4126910686E090813 | |
Causal |
- |
|
7 |
5459 |
SO_4126G08901G08901 | |
Causal |
- |
|
71 |
|
3730C>T |
c.3730C>T |
15 |
|
p.Gln1244X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4931 |
SO_-857G04564G04564 | |
Causal |
- |
|
71 |
|
3747C>A |
c.3747C>A |
15 |
|
p.Cys1249X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4710 |
SO_-3093G03223G03223 | |
Causal |
- |
|
71 |
4892 |
SO_-3093G04396G04396 | |
Causal |
- |
|
71 |
|
3748A>T |
c.3748A>T |
15 |
|
p.Lys1250X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5052 |
SO_-3775G05200G05200 | |
Causal |
- |
|
71 |
|
3815C>G |
c.3815C>G |
15 |
|
p.Ser1272X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
18  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3235 |
33_PSL448---06-198 | |
Causal |
- |
|
33 |
3550 |
SO_-27160160 | |
Causal |
- |
|
71 |
3551 |
SO_-27161161 | |
Causal |
- |
|
71 |
3817 |
SO_-2737753775 | |
Causal |
- |
|
71 |
3818 |
SO_-2737773777 | |
Causal |
- |
|
71 |
4429 |
SO_-2557G01437G01437 | |
Causal |
- |
|
71 |
4466 |
SO_-505G01623G01623 | |
Causal |
- |
|
71 |
4560 |
SO_-2557G02123G02123 | |
Causal |
- |
|
71 |
4598 |
SO_-505G02457G02457 | |
Causal |
- |
|
71 |
4692 |
SO_-2557G03102G03102 | |
Causal |
- |
|
71 |
4695 |
SO_-2557G03124G03124 | |
Causal |
- |
|
71 |
4696 |
SO_-2557G03125G03125 | |
Causal |
- |
|
71 |
4720 |
SO_-505G03303G03303 | |
Causal |
- |
|
71 |
4721 |
SO_-505G03306G03306 | |
Causal |
- |
|
71 |
4723 |
SO_-3145G03320G03320 | |
Causal |
- |
|
71 |
4874 |
SO_-505G04282G04282 | |
Causal |
- |
|
71 |
4875 |
SO_-505G04285G04285 | |
Causal |
- |
|
71 |
5471 |
SO_-505G09028G09028 | |
Causal |
- |
|
71 |
|
3827C>G |
c.3827C>G |
15 |
|
p.Ser1276X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2682 |
10_APC-046---480P | |
Causal |
- |
|
10 |
|
3842C>A |
c.3842C>A |
15 |
|
p.Ser1281X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5175 |
SO_-146G05703G05703 | |
Causal |
- |
|
71 |
|
3845C>G |
c.3845C>G |
15 |
|
p.Ser1282X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4676 |
SO_-2974G02989G02989 | |
Causal |
- |
|
71 |
5325 |
SO_-2974G07372G07372 | |
Causal |
- |
|
71 |
5545 |
7_-2974ILP0511739E051295 | |
Causal |
- |
|
7 |
|
3856G>T |
c.3856G>T |
15 |
|
p.Glu1286X |
|
Causal |
French MMR network |
9/03/15 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5824 |
33_PSL 309---05-576 | |
Causal |
- |
|
33 |
5825 |
33_PSL 309---05-577 | |
Causal |
- |
|
33 |
|
3880C>T |
c.3880C>T |
15 |
|
p.Gln1294X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4116 |
7_-5863E041180E041180 | |
Causal |
- |
|
7 |
|
3907C>T |
c.3907C>T |
15 |
|
p.Gln1303X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2703 |
10_APC-133---82P | |
Causal |
- |
|
10 |
2704 |
10_APC-133---83P | |
Causal |
- |
|
10 |
4161 |
SO_-1715G00188G00188 | |
Causal |
- |
|
71 |
5510 |
7_-1715ILP0510605E050451 | |
Causal |
- |
|
7 |
|
3925G>T |
c.3925G>T |
15 |
|
p.Glu1309X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4155 |
SO_-234G00167G00167 | |
Causal |
- |
|
71 |
5178 |
SO_-62G05709G05709 | |
Causal |
- |
|
71 |
|
3944C>A |
c.3944C>A |
15 |
|
p.Ser1315X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5601 |
7_-6311ILP0611114E060917 | |
Causal |
- |
|
7 |
|
3949G>T |
c.3949G>T |
15 |
|
p.Glu1317X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2329 |
4_40857---30015 | |
Causal |
- |
|
4 |
2330 |
4_40857---40857 | |
Causal |
- |
|
4 |
|
3982C>T |
c.3982C>T |
15 |
|
p.Gln1328X |
|
Causal |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2423 |
SO-513------ | |
Causal |
- |
|
71 |
3781 |
SO_-31931613161 | |
Causal |
- |
|
71 |
4467 |
SO_-3481G01626G01626 | |
Causal |
- |
|
71 |
4531 |
SO_-319G01880G01880 | |
Causal |
- |
|
71 |
4762 |
SO_-3481G03610G03610 | |
Causal |
- |
|
71 |
4881 |
SO_-3481G04325G04325 | |
Causal |
- |
|
71 |
|
4006A>T |
c.4006A>T |
15 |
|
p.Arg1336X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3943 |
7_6387604628E080992 | |
Causal |
- |
|
7 |
4040 |
7_10581911240E100090 | |
Causal |
- |
|
7 |
4084 |
7_105811011930E110039 | |
Causal |
- |
|
7 |
|
4012C>T |
c.4012C>T |
15 |
|
p.Gln1338X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4740 |
SO_-3208G03416G03416 | |
Causal |
- |
|
71 |
|
4099C>T |
c.4099C>T |
15 |
|
p.Gln1367X |
|
Causal |
unvalidated |
00/00/00 |
9  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2636 |
10_APC-158---2132P | |
Causal |
- |
|
10 |
2973 |
19_319---319.001 | |
Causal |
- |
|
19 |
2974 |
19_319---319.003 | |
Causal |
- |
|
19 |
2975 |
19_319---319.006 | |
Causal |
- |
|
19 |
3865 |
SO_-15649124912 | |
Causal |
- |
|
71 |
3954 |
7_7523810054E080112 | |
Causal |
- |
|
7 |
4824 |
SO_-156G04105G04105 | |
Causal |
- |
|
71 |
4991 |
SO_-156G04841G04841 | |
Causal |
- |
|
71 |
5683 |
7_-6672ILP0710923E071144 | |
Causal |
- |
|
7 |
|
4108A>T |
c.4108A>T |
15 |
|
p.Lys1370X |
|
Causal |
unvalidated |
00/00/00 |
9  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3445 |
37_P98.1324828 | |
Causal |
- |
|
37 |
3446 |
37_P00.111171--- | |
Causal |
- |
|
37 |
3447 |
37_P00.111838--- | |
Causal |
- |
|
37 |
3448 |
37_P00.11822--- | |
Causal |
- |
|
37 |
3449 |
37_P00.112213--- | |
Causal |
- |
|
37 |
3450 |
37_P98.136285--- | |
Causal |
- |
|
37 |
3451 |
37_P00.111178--- | |
Causal |
- |
|
37 |
4377 |
SO_-2310G01232G01232 | |
Causal |
- |
|
71 |
5013 |
SO_-1074G04871G04871 | |
Causal |
- |
|
71 |
|
4132C>T |
c.4132C>T |
15 |
|
p.Gln1378X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
6  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2347 |
4_17004---17004 | |
Causal |
- |
|
4 |
3221 |
33_PSL2835---09-1732 | |
Causal |
- |
|
33 |
3462 |
37_P10-008-E1203494461 | |
Causal |
- |
|
37 |
3463 |
37_P10.008-E1281799622 | |
Causal |
- |
|
37 |
4314 |
SO_-2139G00920G00920 | |
Causal |
- |
|
71 |
4454 |
SO_-458G01598G01598 | |
Causal |
- |
|
71 |
|
4175C>G |
c.4175C>G |
15 |
|
p.Ser1392X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2371 |
4_35813---35813 | |
Causal |
- |
|
4 |
|
4189G>T |
c.4189G>T |
15 |
|
p.Glu1397X |
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2348 |
4_21514---21514 | |
Causal |
- |
|
4 |
|
4199C>A |
c.4199C>A |
15 |
|
p.Ser1400X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2637 |
10_APC-091---1039P | |
Causal |
- |
|
10 |
|
4216C>T |
c.4216C>T |
15 |
|
p.Gln1406X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5028 |
SO_-1151G04926G04926 | |
Causal |
- |
|
71 |
|
4222G>T |
c.4222G>T |
15 |
|
p.Glu1408X |
|
Causal |
unvalidated |
00/00/00 |
4  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4036 |
7_-2415910857E090966 | |
Causal |
- |
|
7 |
4071 |
7_103491011128E101137 | |
Causal |
- |
|
7 |
4278 |
SO_-2073G00704G00704 | |
Causal |
- |
|
71 |
4499 |
SO_-2415G01729G01729 | |
Causal |
- |
|
71 |
|
4348C>T |
c.4348C>T |
15 |
|
p.Arg1450X |
|
Causal |
unvalidated |
00/00/00 |
9  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2683 |
10_APC-030---228P | |
Causal |
- |
|
10 |
2684 |
10_APC-164---2241P | |
Causal |
- |
|
10 |
2998 |
19_15077---15077.001 | |
Causal |
- |
|
19 |
2999 |
19_1619---1619.001 | |
Causal |
- |
|
19 |
3236 |
33_PSL2551---09-854 | |
Causal |
- |
|
33 |
3492 |
37_P01.09936--- | |
Causal |
- |
|
37 |
3848 |
SO_-80445574557 | |
Causal |
- |
|
71 |
4453 |
SO_-454G01597G01597 | |
Causal |
- |
|
71 |
5157 |
SO_-339G05659G05659 | |
Causal |
- |
|
71 |
|
4429C>T |
c.4429C>T |
15 |
|
p.Gln1477X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2976 |
19_13377---13399.001 | |
Causal |
- |
|
19 |
5570 |
7_-6134ILP0512707E051455 | |
Causal |
- |
|
7 |
|
4463T>G |
c.4463T>G |
15 |
|
p.Leu1488X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3237 |
33_PSL1436---08-034 | |
Causal |
- |
|
33 |
3536 |
SO_-79191 | |
Causal |
- |
|
71 |
3718 |
SO_-716121612 | |
Causal |
- |
|
71 |
|
4549C>T |
c.4549C>T |
15 |
|
p.Gln1517X |
|
Causal |
unvalidated |
00/00/00 |
10  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2977 |
19_23157---23157-001 | |
Causal |
- |
|
19 |
3597 |
SO_-104395395 | |
Causal |
- |
|
71 |
3598 |
SO_-104396396 | |
Causal |
- |
|
71 |
3599 |
SO_-104397397 | |
Causal |
- |
|
71 |
3605 |
SO_-124452452 | |
Causal |
- |
|
71 |
4249 |
SO_-743G00580G00580 | |
Causal |
- |
|
71 |
4379 |
SO_-743G01237G01237 | |
Causal |
- |
|
71 |
4817 |
SO_-124G04071G04071 | |
Causal |
- |
|
71 |
4818 |
SO_-124G04073G04073 | |
Causal |
- |
|
71 |
5317 |
SO_-743G07245G07245 | |
Causal |
- |
|
71 |
|
4606G>T |
c.4606G>T |
15 |
|
p.Glu1536X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5151 |
SO_-179G05650G05650 | |
Causal |
- |
|
71 |
|
4616C>G |
c.4616C>G |
15 |
|
p.Ser1539X |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4965 |
SO_-3602G04786G04786 | |
Causal |
- |
|
71 |
5507 |
7_-3602ILP0510462E050426 | |
Causal |
- |
|
7 |
|
4618G>T |
c.4618G>T |
15 |
|
p.Glu1540X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5598 |
7_-6310ILP0611108E060916 | |
Causal |
- |
|
7 |
5599 |
7_-6310ILP0611112E061326 | |
Causal |
- |
|
7 |
5600 |
7_-6310ILP0611113E061325 | |
Causal |
- |
|
7 |
|
4621C>T |
c.4621C>T |
15 |
|
p.Gln1541X |
|
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2638 |
10_APC-153---1958P | |
Causal |
- |
|
10 |
2639 |
10_APC-153---2019P | |
Causal |
- |
|
10 |
5339 |
SO_-4993G07557G07557 | |
Causal |
- |
|
71 |
|
4700C>G |
c.4700C>G |
15 |
|
p.Ser1567X |
|
Causal |
unvalidated |
00/00/00 |
12  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2372 |
4_38447---38447 | |
Causal |
- |
|
4 |
2373 |
4_25444---25444 | |
Causal |
- |
|
4 |
2374 |
4_38447---38449 | |
Causal |
- |
|
4 |
2375 |
4_25444---33622 | |
Causal |
- |
|
4 |
2376 |
4_25444---36576 | |
Causal |
- |
|
4 |
3098 |
20_3327-01---13185 | |
Causal |
- |
|
20 |
4431 |
SO_-621G01476G01476 | |
Causal |
- |
|
71 |
4432 |
SO_-621G01533G01533 | |
Causal |
- |
|
71 |
4433 |
SO_-621G01534G01534 | |
Causal |
- |
|
71 |
4434 |
SO_-621G01535G01535 | |
Causal |
- |
|
71 |
4435 |
SO_-621G01536G01536 | |
Causal |
- |
|
71 |
4436 |
SO_-621G01537G01537 | |
Causal |
- |
|
71 |
|
4729G>T |
c.4729G>T |
15 |
|
p.Glu1577X |
Axin binding domain 1 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2331 |
4_41281---41281 | |
Causal |
- |
|
4 |
|
4831C>T |
c.4831C>T |
15 |
|
p.Gln1611X |
|
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5475 |
SO_-4155GB6138GB6138 | |
Causal |
- |
|
71 |
|
6118C>T |
c.6118C>T |
15 |
|
p.Gln2040X |
Axin binding domain 3 |
Causal |
unvalidated |
00/00/00 |
5  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3077 |
19_14423---14423.001 | |
Causal |
- |
|
19 |
3078 |
19_14423---14423.003 | |
Causal |
- |
|
19 |
3079 |
19_14423---14423.004 | |
Causal |
- |
|
19 |
3080 |
19_14423---14423.006 | |
Causal |
- |
|
19 |
3081 |
19_14423---14423.007 | |
Causal |
- |
|
19 |
|
6709C>T |
c.6709C>T |
15 |
|
p.Arg2237X |
Microtubule binding domain (ba |
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2396 |
4_36700---36700 | |
Causal |
- |
|
4 |
2397 |
4_36700---40091 | |
Causal |
- |
|
4 |
|
6862C>T |
c.6862C>T |
15 |
|
p.Gln2288X |
Microtubule binding domain (ba |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2645 |
10_APC-089---1005P | |
Causal |
- |
|
10 |
|