| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu424GlyfsX25 |
c.1270dup |
9 |
424 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 448 |
2  |
|
|
| p.Glu461ProfsX99 |
c.1381insCC |
10 |
461 |
Pem,NM,CH |
|
Small rearrangement |
Fr. |
Stop at 559 |
2  |
|
|
| p.Glu461delinsGluAlaGluGlu |
c.1382_1390dup |
10 |
461 |
Pem,NM,CH |
|
Small rearrangement |
Fr. |
In frame ins |
7  |
|
|
| p.Ala467ArgfsX98 |
c.1382_1398dup |
10 |
461 |
Pem,NM,CH |
|
Small rearrangement |
Fr. |
Stop at 564 |
4  |
|
|