| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Val1506GlufsX4 |
c.4517_4518delTG |
32 |
1506 |
CRD-repeat #11 |
|
Small rearrangement |
Fr. |
Stop at 1509 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15219 |
---MD_UK#91 | M |
|
UK |
|
0 |
|
|
c.IVS32+1G>A (c.4518+1G>A) |
32 |
1506 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3238 |
---MD_FR#F3418310771 | M |
|
FR |
|
0 |
|
|
c.IVS32+1G>T (c.4518+1G>T) |
32 |
1506 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11238 |
---MD_JP#20090821-01 | M |
|
JP |
|
0 |
|
|
c.IVS32+2T>C (c.4518+2T>C) |
32 |
1506 |
|
|
Small rearrangement |
Ts |
T->C |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12016 |
---MD_JP#20100526-02 | M |
|
JP |
|
0 |
| 7481 |
---MD_CN_HOSP#280 | M |
|
CN |
|
0 |
|
|
c.IVS32+2T>G (c.4518+2T>G) |
32 |
1506 |
|
|
Small rearrangement |
Tv |
T->G |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18497 |
---MD_AU#221 | M |
|
AU |
|
0 |
| 8850 |
---MD_DE#9502C0C8-2D21-485 | M |
|
DE |
|
0 |
|
|
c.IVS32+5G>A (c.4518+5G>A) |
32 |
1506 |
|
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11226 |
---MD_JP#20090814-01 | M |
|
JP |
|
0 |
| 16057 |
---MD-US#530 | M |
|
US |
|
0 |
|
|
c.IVS32+6T>A (c.4518+6T>A) |
32 |
1506 |
|
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 456 |
---MD_CA_DM#19 | M |
|
CA |
|
0 |
|