| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp70GlyfsX47 |
c.208dup |
2 |
70 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 116 |
4  |
|
|
| p.Asp70GlyfsX48 |
c.208insGGTG |
2 |
70 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 117 |
5  |
|
|
| p.Asp315GlufsX2 |
c.944dup |
7 |
315 |
NF,NM,RP,FA,HD |
|
Small rearrangement |
Fr. |
Stop at 316 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 744 |
03-CO18-M01R-949 | Female |
Heterozygous |
CAUSAL |
W1045 |
9 |
|