| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS21+1delG (c.2803+1delG) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
delG |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 81 |
---EAT_NMD_AR#AHGD74 | M |
|
AR |
|
0 |
|
|
c.IVS21-1G>T (c.2804-1G>T) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11338 |
---MD_JP#20090917-03 | M |
|
JP |
|
0 |
|
|
c.IVS21-2A>C (c.2804-2A>C) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
A->C |
4  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16871 |
---MD-US#2086 | M |
|
US |
|
0 |
| 3020 |
---MD_FR#F756702111 | M |
|
FR |
|
0 |
| 3004 |
---MD_FR#F756702011 | M |
|
FR |
|
0 |
| 2978 |
---MD_FR#F3417610531 | M |
|
FR |
|
0 |
|
|
c.IVS21-2A>G (c.2804-2A>G) |
21-22 |
935 |
|
|
Small rearrangement |
Ts |
A->G |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16475 |
---MD-US#1248 | M |
|
US |
|
0 |
| 12586 |
---MD_JP#20110817-01 | M |
|
JP |
|
0 |
|
|
c.IVS21-2A>T (c.2804-2A>T) |
21-22 |
935 |
|
|
Small rearrangement |
Tv |
A->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3018 |
---MD_FR#F750559011 | M |
|
FR |
|
0 |
| 3008 |
---MD_FR#F756645011 | M |
|
FR |
|
0 |
|