| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Cys3319Arg |
c.9955T>C |
68 |
3319 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6860 |
TNMD_FR#F753640011 | M |
|
FR |
|
0 |
|
| p.Cys3340Arg |
c.10018T>C |
69 |
3340 |
Carboxy-terminal region |
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6876 |
TNMD_FR#F3426416701 | M |
|
FR |
|
0 |
|