| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.1378_1378delinsAATAAG |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1657 |
02-BO21-F01B-969 | Male |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1378_1378delinsAATAAGT |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1689 |
02-RO19-E13M-003 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1378_1378delinsACATAAT |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
11  |
|
|