| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln983His |
c.2949G>C |
22 |
983 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Gln983His |
c.2949G>T |
22 |
983 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15149 |
TNMD_UK#56 | M |
|
UK |
|
0 |
|
| p.Gln1144His |
c.3432G>T |
25 |
1144 |
CRD-repeat #7 |
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7703 |
TNMD_CN_HOSP#169 | M |
|
CN |
|
0 |
|