| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln3221X |
c.9661C>T |
67 |
3221 |
Cystein-rich domain |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 646 |
---MD_CA_DM#125 | M |
|
CA |
|
0 |
|
| p.Val3222TrpfsX61 |
c.9663delA |
67 |
3221 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3282 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6834 |
---MD_FR#F757485011 | M |
|
FR |
|
0 |
|