| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp52GlyfsX37 |
c.154dup |
3 |
52 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16197 |
TNMD-US#768 | M |
|
US |
|
0 |
|
| p.Asp937X |
c.2808dup |
22 |
937 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 937 |
1  |
|
|
| p.Asp1068ValfsX5 |
c.3203insTT |
24 |
1068 |
CRD-repeat #7 |
|
Small rearrangement |
Fr. |
Stop at 1072 |
1  |
|
|
| p.Asp1789ArgfsX7 |
c.5364dup |
38 |
1789 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1795 |
1  |
|
|
| p.Asp2740ArgfsX5 |
c.8217dup |
56 |
2740 |
CRD-repeat #22 |
|
Small rearrangement |
|
Stop at 2744 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6544 |
TNMD_FR#F3436518771 | M |
|
FR |
|
0 |
|
| p.Asp3134GlyfsX9 |
c.9400dup |
65 |
3134 |
Cystein-rich domain |
|
Small rearrangement |
|
Stop at 3142 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7535 |
TNMD_CN_HOSP#254 | M |
|
CN |
|
0 |
|