| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Pro704HisfsX25 |
c.2111delC |
17 |
704 |
CRD-hinge region #2 |
|
Small rearrangement |
Fr. |
Stop at 728 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17471 |
TNMD-US#3873 | M |
|
US |
|
0 |
|
| p.Gln886LysfsX29 |
c.2655_2668del |
21 |
885 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 914 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9797 |
TNMD_GR#33 | M |
|
GR |
|
0 |
|
| p.Ser1012LeufsX32 |
c.3033delC |
23 |
1011 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 1043 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3052 |
TNMD_FR#F755722011 | M |
|
FR |
|
0 |
|
| p.Pro1486LeufsX12 |
c.4457delC |
32 |
1486 |
CRD-repeat #11 |
|
Small rearrangement |
Fr. |
Stop at 1497 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13577 |
NL#D301 | M |
|
NL |
|
0 |
|
| p.Pro1990LeufsX12 |
c.5969delC |
42 |
1990 |
CRD |
|
Small rearrangement |
Fr. |
Stop at 2001 |
2  |
|
|
| p.Gly2241GlufsX6 |
c.6720delT |
46 |
2240 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2246 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5410 |
TNMD_FR#F755444011 | M |
|
FR |
|
0 |
|
| p.Pro2394GlnfsX6 |
c.7181delC |
49 |
2394 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2399 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13387 |
NL#D151 | M |
|
NL |
|
0 |
|
| p.Ser3262CysfsX9 |
c.9783_9784delAA |
67 |
3261 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3270 |
1  |
|
|
| p.Pro3296LeufsX27 |
c.9887_9908del |
68 |
3296 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3322 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6854 |
TNMD_FR#F759547011 | M |
|
FR |
|
0 |
|
| p.Pro3320GlnfsX10 |
c.9959delC |
68 |
3320 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3329 |
2  |
|
|
| p.Thr3363LeufsX14 |
c.10086delG |
69 |
3362 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
2  |
|
|
| p.Pro3542SerfsX2 |
c.10624_10625delCC |
75 |
3542 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3543 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 173 |
TREAT_NMD_AR#AHGD82 | M |
|
AR |
|
0 |
|