| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr3363LeufsX14 |
c.10086delG |
69 |
3362 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12208 |
---MD_JP#20100930-01 | M |
|
JP |
|
0 |
| 12340 |
---MD_JP#20110117-01 | M |
|
JP |
|
0 |
|
|
c.IVS69+1G>A (c.10086+1G>A) |
69 |
3362 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 204 |
---MD_BE_AR#3 | M |
|
BE |
|
0 |
|
|
c.IVS69+1G>T (c.10086+1G>T) |
69 |
3362 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6890 |
---MD_FR#F751015011 | M |
|
FR |
|
0 |
| 6888 |
---MD_FR#F3408405481 | M |
|
FR |
|
0 |
|
|
c.IVS69+5G>C (c.10086+5G>C) |
69 |
3362 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6886 |
---MD_FR#F3408005401 | M |
|
FR |
|
0 |
|