| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln209SerfsX7 |
c.625_629delCAGAC |
3 |
209 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
Fr. |
Stop at 215 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 526 |
03-DU13-C05L-978 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Gln349ThrfsX17 |
c.1045_1051del |
7 |
349 |
Ju,NF,Pem,NM,RP,FA,HD |
|
Small rearrangement |
Fr. |
Stop at 365 |
2  |
|
|
| p.Gln398ArgfsX47 |
c.1192delC |
9 |
398 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 444 |
11  |
|
|
| p.Gln442ProfsX3 |
c.1325_1335del |
9 |
442 |
Pem,NM,RP,HD,CH |
|
Small rearrangement |
Fr. |
Stop at 444 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 162 |
04-CO21-C08R-966 | Male |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Ser555ValfsX4 |
c.1662delG |
10 |
554 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 558 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1393 |
01-HO21-F18A-958 | Female |
Heterozygous |
CAUSAL |
|
0 |
|