| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp406ThrfsX39 |
c.1216delG |
9 |
406 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 444 |
3  |
|
|
| p.Asp418_Cys421del |
c.1252_1263del |
9 |
418 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
InF |
In frame del |
7  |
|
|
| p.Asp501_Leu504delinsVal |
c.1502_1510del |
10 |
501 |
Sm3,CH |
|
Small rearrangement |
InF |
In frame del |
3  |
|
|