| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln1949X |
c.5845C>T |
41 |
1949 |
CRD-repeat #15 |
|
Small rearrangement |
Ts |
C->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16929 |
---MD-US#2190 | M |
|
US |
|
0 |
|
| p.1950_1948dup |
c.5846ins14 ? |
41 |
1949 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9848 |
---MD_HK#13 | M |
|
HK |
|
0 |
|