| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu117ArgfsX11 |
c.349_350ins26 |
2 |
117 |
Sm, NM |
|
Large rearrangement
|
Fr. |
Stop at 127 |
2  |
|
|
| p.Arg516AlafsX15 |
c.1545_1546insg |
10 |
516 |
Sm3,CH |
|
Large rearrangement
|
Fr. |
Stop at 530 |
2  |
|
|