| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gln60AlafsX29 |
c.177dup |
3 |
60 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1922 |
TNMD_FR#F751217011 | M |
|
FR |
|
0 |
|
| p.Gln977ProfsX37 |
c.2929dup |
22 |
977 |
CRD-repeat #6 |
|
Small rearrangement |
|
Stop at 1013 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3032 |
TNMD_FR#F759286011 | M |
|
FR |
|
0 |
|
| p.Gln1835ProfsX7 |
c.5503dup |
39 |
1835 |
CRD-repeat #14 |
|
Small rearrangement |
|
Stop at 1841 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13239 |
NL#D034 | M |
|
NL |
|
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 |
TNMD_HK#13 | M |
|
HK |
|
0 |
|
| p.Gln2131HisfsX33 |
c.6391_6392dup |
44 |
2131 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2163 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17043 |
TNMD-US#2394 | M |
|
US |
|
0 |
|
| p.Gln2252ProfsX21 |
c.6754dup |
46 |
2252 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2272 |
1  |
|
|
| p.Gln2737HisfsX28 |
c.8209_8210dup |
55 |
2737 |
CRD-repeat #22 |
|
Small rearrangement |
Fr. |
Stop at 2764 |
1  |
|
|
| p.Gln2952ArgfsX10 |
c.8833_8854dup |
59 |
2952 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 2961 |
1  |
|
|
| p.Gln2972SerfsX18 |
c.8912_8913dup |
59 |
2972 |
CRD-repeat #24 |
|
Small rearrangement |
|
Stop at 2989 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6634 |
TNMD_FR#F3437819441 | M |
|
FR |
|
0 |
|