| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu14LysfsX12 |
c.39delA |
2 |
13 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 25 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 41 |
TREAT_NMD_AR#AHGD15 | M |
|
AR |
|
0 |
|
| p.Arg737ProfsX23 |
c.2210delG |
18 |
737 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 759 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2840 |
TNMD_FR#F69125575m1 | M |
|
FR |
|
0 |
|
| p.Arg879GlyfsX12 |
c.2635delC |
21 |
879 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 890 |
1  |
|
|
| p.Arg1253ThrfsX17 |
c.3758_3759delGG |
27 |
1253 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1269 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17019 |
TNMD-US#2353 | M |
|
US |
|
0 |
|
| p.Arg1562SerfsX8 |
c.4686_4689delAAAG |
34 |
1562 |
CRD-repeat #11 |
|
Small rearrangement |
Fr. |
Stop at 1569 |
2  |
|
|
| p.Arg1868GlufsX5 |
c.5602_5605delAGAA |
40 |
1868 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1872 |
8  |
|
|
| p.Arg1869LysfsX4 |
c.5605_5608delAGAA |
40 |
1869 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1872 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1035 |
TNMD_CH#66 | M |
|
CH |
|
0 |
|
| p.Arg2572GlyfsX4 |
c.7714delA |
53 |
2572 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2575 |
1  |
|
|