| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp1789ArgfsX7 |
c.5364dup |
38 |
1789 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1795 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11590 |
---MD_JP#20091120-04 | M |
|
JP |
|
0 |
|
| p.Asp1789AsnfsX14 |
c.5365_5374del |
38 |
1789 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1802 |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16469 |
---MD-US#1237 | M |
|
US |
|
0 |
|