| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val605PhefsX2 |
c.1812delC |
15 |
604 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 606 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2728 |
---MD_FR#F3419011281 | M |
|
FR |
|
0 |
|
|
c.IVS15+601A>G (c.1812+601A>G) |
15 |
604 |
|
|
Small rearrangement |
Ts |
A->G |
3  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 222 |
---MD_BE_AR#13 | M |
|
BE |
|
0 |
| 2730 |
---MD_FR#F758964011 | M |
|
FR |
|
0 |
| 240 |
---MD_BE_AR#22 | M |
|
BE |
|
0 |
|