| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu1714LysfsX7 |
c.5140delG |
36 |
1714 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1720 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3324 |
---MD_FR#F6911617MA1 | M |
|
FR |
|
0 |
|
| p.Glu1714ArgfsX4 |
c.5140_5141delGA |
36 |
1714 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1717 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16439 |
---MD-US#1165 | M |
|
US |
|
0 |
|