| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys262X |
c.783dup |
8 |
262 |
CRD-hinge region #1 |
|
Small rearrangement |
Fr. |
Stop at 262 |
1  |
|
|
| p.Lys613GlufsX22 |
c.1835dup |
16 |
612 |
CRD-repeat #3 |
|
Small rearrangement |
|
Stop at 634 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2738 |
TNMD_FR#F751291011 | M |
|
FR |
|
0 |
|
| p.Gln1087AlafsX11 |
c.3257dup |
24 |
1086 |
CRD-repeat #7 |
|
Small rearrangement |
Fr. |
Stop at 1097 |
4  |
|
|
| p.Lys1089AsnfsX9 |
c.3267insC |
24 |
1089 |
CRD-repeat #7 |
|
Small rearrangement |
|
Stop at 1097 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3068 |
TNMD_FR#F3409906571 | M |
|
FR |
|
0 |
|
| p.Lys1772X |
c.5313dup |
37 |
1772 |
CRD-repeat #13 |
|
Small rearrangement |
|
Stop at 1772 |
2  |
|
|
| p.Arg2205GlufsX18 |
c.6611dup |
45 |
2204 |
CRD-repeat #17 |
|
Small rearrangement |
|
Stop at 2222 |
3  |
|
|
| p.Lys2540ArgfsX8 |
c.7619insG |
52 |
2540 |
CRD-repeat #20 |
|
Small rearrangement |
|
Stop at 2547 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16593 |
TNMD-US#1484 | M |
|
US |
|
0 |
|
| p.Lys3273X |
c.9816dup |
68 |
3273 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3273 |
1  |
|
|