| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu65ArgfsX24 |
c.192dup |
4 |
65 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18780 |
TNMD_NZ#170 | M |
|
NZ |
|
0 |
|
| p.Glu323GlyfsX4 |
c.967dup |
10 |
323 |
CRD-hinge region #1 |
|
Small rearrangement |
|
Stop at 326 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7603 |
TNMD_CN_HOSP#221 | M |
|
CN |
|
0 |
|
| p.Thr418MetfsX10 |
c.1248insagaaatga |
11 |
416 |
CRD-repeat #1 |
|
Small rearrangement |
Fr. |
Stop at 427 |
1  |
|
|
| p.Glu432GlyfsX7 |
c.1294dup |
11 |
432 |
CRD-repeat #1 |
|
Small rearrangement |
|
Stop at 438 |
2  |
|
|
| p.Glu476GlyfsX7 |
c.1426dup |
12 |
476 |
CRD-repeat #2 |
|
Small rearrangement |
|
Stop at 482 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2606 |
TNMD_FR#F690950FQ51 | M |
|
FR |
|
0 |
|
| p.Glu579ArgfsX13 |
c.1734dup |
15 |
579 |
CRD-repeat #3 |
|
Small rearrangement |
|
Stop at 591 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18459 |
TNMD_AU#219 | M |
|
AU |
|
0 |
|
| p.Glu692GlyfsX28 |
c.2074dup |
17 |
692 |
CRD-hinge region #2 |
|
Small rearrangement |
|
Stop at 719 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2788 |
TNMD_FR#F69171588m1 | M |
|
FR |
|
0 |
|
| p.Glu1668GlnfsX5 |
c.5000_5001dup |
35 |
1668 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1672 |
1  |
|
|
| p.Asp2944SerfsX6 |
c.8822ins13 |
59 |
2941 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 2949 |
1  |
|
|
| p.Met3545AlafsX11 |
c.10603_10631dup |
75 |
3544 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3555 |
3  |
|
|