| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr588GlnfsX20 |
c.1760_1761dup |
15 |
588 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 607 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8420 |
---MD_DE#4B8EEFE1-A5EB-438 | M |
|
DE |
|
0 |
|
| p.Thr588LeufsX19 |
c.1762delA |
15 |
588 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 606 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2720 |
---MD_FR#F3428916161 | M |
|
FR |
|
0 |
|