| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser84CysfsX36 |
c.249_250dup |
2 |
83 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 119 |
4  |
|
|
| p.Val566GlyfsX23 |
c.1695_1696dup |
10 |
565 |
Sm,ASK,CH |
|
Small rearrangement |
Fr. |
Stop at 588 |
2  |
|
|