| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS11+1G>T (c.1331+1G>T) |
11-12 |
444 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2588 |
---MD_FR#F754083011 | M |
|
FR |
|
0 |
| 2592 |
---MD_FR#F751218011 | M |
|
FR |
|
0 |
|
|
c.IVS11-9A>G (c.1332-9A>G) |
11-12 |
444 |
|
|
Small rearrangement |
Ts |
A->G |
6  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2586 |
---MD_FR#F750825011 | M |
|
FR |
|
0 |
| 9032 |
---MD_DE#B05E624F-6182-493 | M |
|
DE |
|
0 |
| 55 |
---EAT_NMD_AR#AHGD62 | M |
|
AR |
|
0 |
| 2596 |
---MD_FR#F750825211 | M |
|
FR |
|
0 |
| 2594 |
---MD_FR#F750825111 | M |
|
FR |
|
0 |
| 2590 |
---MD_FR#F758040011 | M |
|
FR |
|
0 |
|