| Variation type |
Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys506AsnfsX37 |
c.1518delG |
6 |
506 |
|
|
Small rearrangement |
Fr. |
Stop at 542 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 48 |
CS1BO | |
Heterozygous |
U.S.A. |
|
4 |
|
| p.Lys1239GlufsX2 |
c.3715_3716delAA |
18 |
1239 |
|
|
Small rearrangement |
Fr. |
Stop at 1240 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Disease |
References |
| 42 |
Meira_COFS | |
Homozygous |
CANADA |
|
2 |
|