| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro69ArgfsX49 |
c.202_205dup |
2 |
69 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 117 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1515 |
02-AR13-D01N-943 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Asp70ProfsX51 |
c.202_206dup |
2 |
69 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 120 |
7  |
|
|
| p.Gly73LeufsX47 |
c.214_215dup |
2 |
72 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 119 |
3  |
|
|
| p.Pro494AlafsX37 |
c.1478dup |
10 |
493 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
3  |
|
|
| p.Pro514AlafsX17 |
c.1540insG |
10 |
514 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
2  |
|
|
| p.Arg516ProfsX15 |
c.1545insG |
10 |
515 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
5  |
|
|
| p.Gly520TrpfsX11 |
c.1556dup |
10 |
519 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1635 |
02-CH09-M05H-981 | Male |
Heterozygous |
CAUSAL |
|
0 |
|