| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.2098_2096dup |
c.6291ins80 ? |
43-44 |
2097 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18853 |
---MD_CA_DM#148 | M |
|
CA |
|
0 |
|
|
c.IVS43+1G>T (c.6290+1G>T) |
43-44 |
2097 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12602 |
---MD_JP#20110902-01 | M |
|
JP |
|
0 |
| 3510 |
---MD_FR#F69233361m1 | M |
|
FR |
|
0 |
|
|
c.IVS43+2T>C (c.6290+2T>C) |
43-44 |
2097 |
|
|
Small rearrangement |
Ts |
T->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3612 |
---MD_FR#F751727011 | M |
|
FR |
|
0 |
|
|
c.IVS43+5G>C (c.6290+5G>C) |
43-44 |
2097 |
|
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12198 |
---MD_JP#20100913-02 | M |
|
JP |
|
0 |
|
|
c.IVS43-1G>A (c.6291-1G>A) |
43-44 |
2097 |
|
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11404 |
---MD_JP#20091006-02 | M |
|
JP |
|
0 |
|