| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Met905HisfsX15 |
c.2712dup |
21 |
905 |
CRD-repeat #5 |
|
Small rearrangement |
|
Stop at 919 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9558 |
TNMD_ES1#NSD | M |
|
ES |
|
0 |
|
| p.Met1989TyrfsX15 |
c.5965insT |
42 |
1989 |
CRD |
|
Small rearrangement |
|
Stop at 2003 |
1  |
|
|