| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.570_571delinsC |
3 |
190 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
indels |
indels |
3  |
|
|
|
c.570_571delinsC
|
3 |
190 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 54 |
04-DE12-J05A-962 | Male |
Heterozygous |
CAUSAL |
W1069 |
0 |
|