| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln156X |
c.466C>T |
3 |
156 |
|
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 27 |
CS21BR | |
Heterozygous |
U.K. |
|
0 |
|
| p.Gln184X |
c.550C>T |
4 |
184 |
|
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 66 |
CS4BR | |
Heterozygous |
U.K. |
|
4 |
|
| p.Gln723X |
c.2167C>T |
10 |
723 |
|
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 11 |
CS3LE | |
Heterozygous |
U.K. |
|
0 |
|
| p.Gln854X |
c.2560C>T |
13 |
854 |
|
|
Small rearrangement |
Ts |
C->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 26 |
CS9MA | |
Homozygous |
U.K. (PAKISTAN) |
|
0 |
| 47 |
CS8BR | |
Homozygous |
U.K. |
|
4 |
|