| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr385ValfsX14 |
c.1152dup |
11 |
385 |
CRD-repeat #1 |
|
Small rearrangement |
Fr. |
Stop at 398 |
1  |
|
|
| p.Tyr1180X |
c.3530_3538dup |
26 |
1180 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1180 |
1  |
|
|
| p.Tyr2144LeufsX3 |
c.6430dup |
44 |
2144 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2146 |
1  |
|
|