| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.252_253delinsG |
2 |
84 |
Sm, NM |
|
Small rearrangement |
indels |
indels |
2  |
|
|
|
c.431_432delinsAA |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1780 |
02-BO14-J05A-942 | Male |
Heterozygous |
CAUSAL |
|
27 |
|