Old nomenclature |
cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Validation by |
Validation date |
# records |
180_181delinsC |
c.180_181delinsC |
2 |
|
p.Met60_Asp67delinsIle |
|
Causal |
French MMR network |
25/02/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5691 |
7_-6697ILP0711128E071404 | |
Causal |
- |
|
7 |
|
586_588delinsTT |
c.586_588delinsTT |
5 |
|
|
|
Causal |
French MMR network |
4/03/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2884 |
19_21539---21539-001 | |
Causal |
- |
|
19 |
|
1487_1506delinsTGCTGT |
c.1487_1506delinsTGCTGT |
11 |
|
p.Leu497_Leu497del |
ASEF binding domain ARM2 |
Causal |
unvalidated |
00/00/00 |
11  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3723 |
SO_-49017471747 | |
Causal |
- |
|
71 |
4022 |
7_-490910223E090345 | |
Causal |
- |
|
7 |
4028 |
7_-490910427E090613 | |
Causal |
- |
|
7 |
4047 |
7_-490912117E092434 | |
Causal |
- |
|
7 |
4048 |
7_-490912118E092433 | |
Causal |
- |
|
7 |
4102 |
7_-4901110341E110323 | |
Causal |
- |
|
7 |
4104 |
7_-4901110343E110322 | |
Causal |
- |
|
7 |
4463 |
SO_-490G01616G01616 | |
Causal |
- |
|
71 |
4872 |
SO_-490G04276G04276 | |
Causal |
- |
|
71 |
5473 |
SO_-490GB6114GB6114 | |
Causal |
- |
|
71 |
5619 |
7_-490ILP0611379E061253 | |
Causal |
- |
|
7 |
|
|
c.1548_1548+1delinsTT |
11 |
|
p.Thr518AlafsX2 |
ASEF binding domain ARM2 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5299 |
SO_-4722G07071G07071 | |
Causal |
- |
|
71 |
|
|
c.1848_1848+1delinsTT |
14 |
|
p.Thr518AlafsX2 |
ASEF binding domain ARM4 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2799 |
19_10879---10879.001 | |
Causal |
- |
|
19 |
|
1938_1939delinsC |
c.1938_1939delinsC |
14 |
|
p.Ile646_Arg653delinsMet |
ASEF binding domain ARM5 |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4076 |
7_121581011416E101424 | |
Causal |
- |
|
7 |
4217 |
SO_-1794G00474G00474 | |
Causal |
- |
|
71 |
4218 |
SO_-1794G00476G00476 | |
Causal |
- |
|
71 |
|
2136_2142delinsCA |
c.2136_2142delinsCA |
15 |
|
p.His712_Lys736delinsGln |
ASEF binding domain ARM6 |
Causal |
unvalidated |
00/00/00 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5074 |
SO_-730G05305G05305 | |
Causal |
- |
|
71 |
|
2375_2376delinsGTGTAA |
c.2375_2376delinsGTGTAA |
15 |
|
|
|
Causal |
unvalidated |
00/00/00 |
8  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3964 |
7_-6349810393E080471 | |
Causal |
- |
|
7 |
3994 |
7_6274811672E081738 | |
Causal |
- |
|
7 |
3995 |
7_6274811674E081737 | |
Causal |
- |
|
7 |
4019 |
7_6274910168E091922 | |
Causal |
- |
|
7 |
4081 |
7_62741011634E101557 | |
Causal |
- |
|
7 |
5615 |
7_-6349ILP0611375E061547 | |
Causal |
- |
|
7 |
5616 |
7_-6349ILP0611376E070690 | |
Causal |
- |
|
7 |
5660 |
7_-6349ILP0710302E071104 | |
Causal |
- |
|
7 |
|
2835_2843delinsT |
c.2835_2843delinsT |
15 |
|
p.Thr946GlufsX4 |
|
Causal |
unvalidated |
00/00/00 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3392 |
37_P04.112588--- | |
Causal |
- |
|
37 |
3393 |
37_P04.112961--- | |
Causal |
- |
|
37 |
|
3698_3724delinsTGTGCCACTG... |
c.3698_3724delinsTGTGCCAC... |
15 |
|
|
|
Causal |
French MMR network |
4/03/15 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
2559 |
10_APC-008---24P | |
Causal |
- |
|
10 |
2560 |
10_APC-008---1153P | |
Causal |
- |
|
10 |
|
3817_3823delinsTTT |
c.3817_3823delinsTTT |
15 |
|
|
Beta-catenin degradation domai |
Causal |
French MMR network |
26/03/15 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
3416 |
37_P01.079724047 | |
Causal |
- |
|
37 |
3417 |
37_P01.07158013679 | |
Causal |
- |
|
37 |
3418 |
37_P08.12720868404 | |
Causal |
- |
|
37 |
|
3839_3840delinsA |
c.3839_3840delinsA |
15 |
|
|
Beta-catenin degradation domai |
Causal |
unvalidated |
00/00/00 |
3  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5720 |
10_APC-183---2783P | |
Causal |
- |
|
10 |
5718 |
10_APC-183---2671P | |
Causal |
- |
|
10 |
5719 |
10_APC-183---2739P | |
Causal |
- |
|
10 |
|
4150_4155delinsAACAT |
c.4150_4155delinsAACAT |
15 |
|
|
Beta-catenin degradation domai |
Causal |
French MMR network |
25/02/15 |
1  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5038 |
SO_-3655G05013G05013 | |
Causal |
- |
|
71 |
|
4405_4415delinsTAAATGCTGC |
c.4405_4415delinsTAAATGCT... |
15 |
|
|
|
Causal |
French MMR network |
25/02/15 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
4352 |
SO_-934G01138G01138 | |
Causal |
- |
|
71 |
4985 |
SO_-934G04833G04833 | |
Causal |
- |
|
71 |
|
4666_4667delinsT |
c.4666_4667delinsT |
15 |
|
p.Thr1556 |
|
Causal |
French MMR network |
9/03/15 |
2  |
UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
5823 |
33_PSL 285---05-526 | |
Causal |
- |
|
33 |
3419 |
37_P09.15913979790 | |
Causal |
- |
|
37 |
|