| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly901X |
c.2701G>T |
21 |
901 |
CRD-repeat #5 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2964 |
---MD_FR#F755542011 | M |
|
FR |
|
0 |
|
| p.902_900dup |
c.2703ins73 ? |
21 |
901 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18855 |
---MD-US#692 | M |
|
US |
|
0 |
|