| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ala138GlyfsX42 |
c.412dup |
2 |
138 |
Sm, NM |
|
Small rearrangement |
Fr. |
Stop at 179 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1425 |
01-PA18-N09C-984 | Male |
Heterozygous |
CAUSAL |
|
0 |
|
| p.Leu500ThrfsX31 |
c.1497dup |
10 |
499 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1784 |
02-BU09-T01M-992 | Female |
Heterozygous |
CAUSAL |
|
0 |
|