| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| 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 |
---MD_CN_HOSP#169 | M |
|
CN |
|
0 |
|
|
c.IVS25+2240A>G (c.3432+2240A>G) |
25 |
1144 |
|
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13539 |
---#D271 | M |
|
NL |
|
0 |
|