| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn103LysfsX3 |
c.305dup |
5 |
102 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 105 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14412 |
TNMD_RU#16 | M |
|
RU |
|
0 |
|
| p.902_900dup |
c.2703ins73 ? |
21 |
901 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18855 |
TNMD-US#692 | M |
|
US |
|
0 |
|
| p.Gly1256TrpfsX15 |
c.3765dup |
27 |
1256 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1270 |
1  |
|
|
| p.2098_2096dup |
c.6291ins80 ? |
43-44 |
2097 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18853 |
TNMD_CA_DM#148 | M |
|
CA |
|
0 |
|
| p.Pro2610SerfsX33 |
c.7826dup |
53 |
2609 |
CRD-repeat #21 |
|
Small rearrangement |
|
Stop at 2642 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6478 |
TNMD_FR#F3439520001 | M |
|
FR |
|
0 |
|
| p.Gly3202ValfsX3 |
c.9592_9604dup |
66 |
3202 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3204 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6818 |
TNMD_FR#F3502002011 | M |
|
FR |
|
0 |
|
| p.Gly3535ArgfsX10 |
c.10602dup |
75 |
3535 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3544 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7030 |
TNMD_FR#F69076705m1 | M |
|
FR |
|
0 |
|