| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Arg48GlufsX41 |
c.141dup |
3 |
48 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1920 |
TNMD_FR#F752405011 | M |
|
FR |
|
0 |
|
| p.Gln945LeufsX25 |
c.2829insTTAT |
22 |
943 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 969 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17087 |
TNMD-US#2477 | M |
|
US |
|
0 |
|
| p.Arg1719AsnfsX10 |
c.5155insAATATAG |
37 |
1719 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1728 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9886 |
TNMD_HK#36 | M |
|
HK |
|
0 |
|
| p.Arg1865GlufsX23 |
c.5592dup |
40 |
1865 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1887 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14416 |
TNMD_RU#18 | M |
|
RU |
|
0 |
|
| p.Arg2556GlufsX21 |
c.7666insGA |
53 |
2556 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2576 |
1  |
|
|
| p.Arg2600ThrfsX15 |
c.7797_7798dup |
53 |
2600 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2614 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9904 |
TNMD_HK#45 | M |
|
HK |
|
0 |
|
| p.Arg2631ProfsX12 |
c.7891dup |
54 |
2631 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2642 |
1  |
|
|
| p.Arg3107LysfsX5 |
c.9320insAA |
64 |
3107 |
CRD-hinge region #4 |
|
Small rearrangement |
|
Stop at 3111 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6740 |
TNMD_FR#F753475011 | M |
|
FR |
|
0 |
|
| p.Arg3195HisfsX89 |
c.9584insAT |
66 |
3195 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3283 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 111 |
TREAT_NMD_AR#AHGD70 | M |
|
AR |
|
0 |
|