| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp431MetfsX8 |
c.1290dup |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
|
Stop at 438 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 594 |
---MD_CA_DM#99 | M |
|
CA |
|
0 |
|
| p.Trp431X |
c.1292G>A |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 628 |
---MD_CA_DM#116 | M |
|
CA |
|
0 |
| 2542 |
---MD_FR#F755059011 | M |
|
FR |
|
0 |
|
| p.Trp431X |
c.1293G>A |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2540 |
---MD_FR#F3436018751 | M |
|
FR |
|
0 |
|