| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS18-1G>A (c.2293-1G>A) |
19 |
765 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7601 |
---MD_CN_HOSP#222 | M |
|
CN |
|
0 |
|
|
c.IVS18-1G>T (c.2293-1G>T) |
19 |
765 |
|
|
Small rearrangement |
Tv |
G->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2860 |
---MD_FR#F3502500121 | M |
|
FR |
|
0 |
|
|
c.IVS18-5del7 (c.2293-5del7) |
19 |
765 |
|
|
Small rearrangement |
Tv |
del7 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2878 |
---MD_FR#F750890011 | M |
|
FR |
|
0 |
|