| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly208AlafsX16 |
c.623delG |
3 |
208 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Fr. |
Stop at 223 |
2  |
|
|
| p.Gly509ValfsX50 |
c.1525delG |
10 |
509 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 558 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1102 |
03-RE04-M09C-944 | Female |
Heterozygous |
CAUSAL |
W1048 |
0 |
|
| p.Arg516GlufsX14 |
c.1539_1540delAC |
10 |
513 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 529 |
2  |
|
|