| Old nomenclature |
cDNA Nomenclature |
exon |
mRNA nomenclature |
Protein nomenclature |
Functional Domain |
Biological significance |
Validation by |
Validation date |
# records |
|
c.636_645+13delinsT |
3 |
|
|
Connector |
Causal |
French MMR network |
25/09/15 |
2  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 3253 |
8_467499002408-941331 | |
Causal |
- |
|
8 |
| 3247 |
8_467499964008-962051 | |
Causal |
- |
|
8 |
|
| 689_691delinsTT |
c.689_691delinsTT |
4 |
|
|
Connector |
Causal |
French MMR network |
28/04/14 |
2  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2884 |
31_H1619H1619-1H1619-1A | |
Causal |
- |
|
31 |
| 3043 |
31_H1619H1619-1H1619-1A | |
Causal |
- |
|
31 |
|
| 1077_1077delinsAG |
c.1077_1077delinsAG |
6-7 |
|
|
Lever |
Causal |
French MMR network |
5/08/15 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2989 |
8_422118776908-923031NDA | |
Causal |
- |
|
8 |
|
| 1557_1567delinsACACAG |
c.1557_1567delinsACACAG |
10 |
|
|
Clamp |
Causal |
French MMR network |
22/05/14 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2891 |
4_12170283784100 | |
Causal |
- |
|
4 |
|
| 1674_1677delinsCTTTT |
c.1674_1677delinsCTTTT |
11 |
|
|
Lever |
Causal |
French MMR network |
25/09/15 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 3228 |
19_2772927729-00127729-001 | |
Causal |
- |
|
19 |
|
| 1823_1824delinsA |
c.1823_1824delinsA |
12 |
|
|
EXO1 interaction |
Causal |
French MMR network |
22/05/14 |
1  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2905 |
4_Mp981001 | |
Causal |
- |
|
4 |
|
| 1924_1928delinsTTTC |
c.1924_1928delinsTTTC |
12 |
|
|
ATPase |
Causal |
French MMR network |
22/05/14 |
12  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2892 |
19_14681468-0021468-002-1 | |
Causal |
- |
|
19 |
| 2893 |
19_14681468-0041468-004-1 | |
Causal |
- |
|
19 |
| 2894 |
19_14681468-0081468-008-1 | |
Causal |
- |
|
19 |
| 2895 |
19_45064506-0014506-001-1 | |
Causal |
- |
|
19 |
| 2896 |
37_L04.28243026152/30124 | |
Causal |
- |
|
37 |
| 2912 |
19_14681468-0031468-003-1 | |
Causal |
- |
|
19 |
| 2906 |
19_14681468-0071468-007-1 | |
Causal |
- |
|
19 |
| 2907 |
19_14681468-0141468-014-1 | |
Causal |
- |
|
19 |
| 2917 |
19_14681468-0091468-009-1 | |
Causal |
- |
|
19 |
| 3008 |
19_2520625206-00125206-001 | |
Causal |
- |
|
19 |
| 3113 |
31_H1894H1894-1H1894-1A | |
Causal |
- |
|
31 |
| 3114 |
19_2517525175-00625175-006 | |
Causal |
- |
|
19 |
|
| 2472_2473delinsGAT |
c.2472_2473delinsGAT |
15 |
|
|
ATPase |
Causal |
French MMR network |
22/05/14 |
5  |
| UMD_id |
Sample ID |
Gender |
Biological significance |
Geographic origin |
Mutation type |
References |
| 2913 |
2_02-ACT319319760 | |
Causal |
- |
|
2 |
| 2897 |
19_1484914849-00114849-001-1 | |
Causal |
- |
|
19 |
| 2898 |
19_1484914849-00414849-004-1 | |
Causal |
- |
|
19 |
| 2908 |
19_1484914849-00214849-002-1 | |
Causal |
- |
|
19 |
| 2918 |
33_PSL 67006-763 | |
Causal |
- |
|
33 |
|