| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg1719AsnfsX10 |
c.5155insAATATAG |
37 |
1719 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1728 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9886 |
---MD_HK#36 | M |
|
HK |
|
0 |
|
|
c.IVS36-3T>G (c.5155-3T>G) |
37 |
1719 |
|
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13455 |
---#D215 | M |
|
NL |
|
0 |
|