| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys496GlnfsX35 |
c.1485dup |
10 |
496 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
3  |
|
|
| p.Leu504ProfsX27 |
c.1505dup |
10 |
502 |
Sm3,CH |
|
Small rearrangement |
Fr. |
Stop at 530 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1246 |
03-DA11-R01F-943 | Male |
Heterozygous |
CAUSAL |
|
0 |
|