| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu853delinsPhe |
c.2557_2558dup |
20 |
853 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2944 |
---MD_FR#F759222011 | M |
|
FR |
|
0 |
|
| p.Leu853X |
c.2558T>A |
20 |
853 |
CRD-repeat #5 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2940 |
---MD_FR#F3423914111 | M |
|
FR |
|
0 |
|
| p.Lys854AsnfsX13 |
c.2559_2560delGA |
20 |
853 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 866 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2942 |
---MD_FR#F759222011 | M |
|
FR |
|
0 |
|