| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr344delinsThrAlaThr |
c.1032_1037dup |
7 |
344 |
Ju,NF,Pem,NM,RP,FA,HD |
|
Small rearrangement |
Fr. |
In frame ins |
2  |
|
|
| p.Thr506AsnfsX25 |
c.1516dup |
10 |
506 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
3  |
|
|