| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln1829X |
c.5485C>T |
39 |
1829 |
CRD-repeat #14 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8716 |
---MD_DE#7F4968EC-5DE6-4A9 | M |
|
DE |
|
0 |
|
| p.Gly1831ArgfsX10 |
c.5487_5488delAA |
39 |
1829 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1840 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3366 |
---MD_FR#F750769011 | M |
|
FR |
|
0 |
|