| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr588GlnfsX20 |
c.1760_1761dup |
15 |
588 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 607 |
1  |
|
|
| p.Thr1189AsnfsX4 |
c.3565dup |
26 |
1189 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1192 |
1  |
|
|
| p.Thr2612TyrfsX31 |
c.7833dup |
53 |
2612 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2642 |
1  |
|
|