| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.1691_1694delinsCCAACGAAAATGAAG |
10 |
565 |
Sm,ASK,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1184 |
03-JE01-L09L-946 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1691_1694delinsCCACCAAGATGAA |
10 |
565 |
|
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1957 |
04-JE01-Y15-004 | Male |
|
LIKELY CAUSAL |
|
0 |
|