| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg68ProfsX13 |
c.202_211del |
2 |
68 |
|
|
Small rearrangement |
Fr. |
Stop at 80 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 33 |
CS784VI | |
Heterozygous |
TURKEY |
|
0 |
|
| p.Arg77IlefsX6 |
c.229_232delCGAC |
2 |
77 |
|
|
Small rearrangement |
Fr. |
Stop at 82 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 69 |
KPSX6 | |
Homozygous |
JAPAN |
|
8 |
|