| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu1924X |
c.5770G>T |
41 |
1924 |
CRD-repeat #15 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12516 |
---MD_JP#20110523-01 | M |
|
JP |
|
0 |
|
| p.Glu1924GlyfsX7 |
c.5771_5772delAG |
41 |
1924 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Stop at 1930 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15858 |
---MD_FI#FIN35 | M |
|
FI |
|
0 |
|