| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS1+16C>G (c.31+16C>G) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 8550 |
---MD_DE#635EFE52-2B88-47A | M |
|
DE |
|
0 |
|
|
c.IVS1+1G>T (c.31+1G>T) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
G->T |
7  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1378 |
---MD_FR#F372779406001 | M |
|
FR |
|
0 |
| 1372 |
---MD_FR#F37C48807671 | M |
|
FR |
|
0 |
| 1364 |
---MD_FR#F372193803831 | M |
|
FR |
|
0 |
| 1362 |
---MD_FR#F37C48807641 | M |
|
FR |
|
0 |
| 1358 |
---MD_FR#F372779406311 | M |
|
FR |
|
0 |
| 1380 |
---MD_FR#F372779406021 | M |
|
FR |
|
0 |
| 1466 |
---MD_FR#F758755011 | M |
|
FR |
|
0 |
|
|
c.IVS1+5G>C (c.31+5G>C) |
1-2 |
11 |
|
|
Small rearrangement |
Tv |
G->C |
3  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1414 |
---MD_FR#F756392211 | M |
|
FR |
|
0 |
| 1412 |
---MD_FR#F756392111 | M |
|
FR |
|
0 |
| 1404 |
---MD_FR#F756392011 | M |
|
FR |
|
0 |
|