| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.His104GlnfsX33 |
c.312_313delTA |
5 |
104 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 136 |
1  |
|
|
| p.His446X |
c.1336_1337delCA |
12 |
446 |
CRD-repeat #1 |
|
Small rearrangement |
Fr. |
Stop at 446 |
1  |
|
|
| p.His1315GlnfsX15 |
c.3945_3948delTTCA |
29 |
1315 |
CRD-repeat #9 |
|
Small rearrangement |
Fr. |
Stop at 1329 |
1  |
|
|
| p.His1430GlnfsX15 |
c.4290_4291delTA |
31 |
1430 |
CRD-repeat #10 |
|
Small rearrangement |
Fr. |
Stop at 1444 |
1  |
|
|
| p.Met1681GlyfsX4 |
c.5040_5041delCA |
36 |
1680 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1684 |
1  |
|
|
| p.His1762LeufsX19 |
c.5285delA |
37 |
1762 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1780 |
2  |
|
|
| p.His2753GlnfsX11 |
c.8259delC |
56 |
2753 |
CRD-repeat #22 |
|
Small rearrangement |
Fr. |
Stop at 2763 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18613 |
TNMD_AU#87 | M |
|
AU |
|
0 |
|
| p.His2974ThrfsX15 |
c.8920delC |
59 |
2974 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 2988 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6638 |
TNMD_FR#F758278011 | M |
|
FR |
|
0 |
|