| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro55GlnfsX60 |
c.164_168delCTACC |
2 |
55 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 114 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 12 |
04-LL05-C08I-974 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Glu60SerfsX59 |
c.177delC |
2 |
59 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 118 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 241 |
03-RA02-M01R-978 | Female |
Heterozygous |
CAUSAL |
W235 |
3 |
|
| p.Pro69TrpfsX44 |
c.205_215del |
2 |
69 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 112 |
2  |
|
|
| p.Thr541GlnfsX18 |
c.1620delC |
10 |
540 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 558 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 983 |
03-CA19-I22A-977 | Male |
Heterozygous |
CAUSAL |
|
0 |
|