| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp1660X |
c.4980delG |
35 |
1660 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1660 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3304 |
TNMD_FR#F753763011 | M |
|
FR |
|
0 |
|
| p.Trp2106GlyfsX8 |
c.6316delT |
44 |
2106 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2113 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7055 |
TNMD_CN_HOSP#500 | M |
|
CN |
|
0 |
|