| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr588LeufsX19 |
c.1762delA |
15 |
588 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 606 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2720 |
TNMD_FR#F3428916161 | M |
|
FR |
|
0 |
|
| p.Thr687ArgfsX2 |
c.2060delC |
17 |
687 |
CRD-hinge region #2 |
|
Small rearrangement |
Fr. |
Stop at 688 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16857 |
TNMD-US#2060 | M |
|
US |
|
0 |
|
| p.Thr690LysfsX29 |
c.2069_2070delCA |
17 |
690 |
CRD-hinge region #2 |
|
Small rearrangement |
Fr. |
Stop at 718 |
1  |
|
|
| p.Thr864LysfsX7 |
c.2591delC |
20 |
864 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 870 |
1  |
|
|
| p.Gln1137CysfsX12 |
c.3408_3420del |
25 |
1136 |
CRD-repeat #7 |
|
Small rearrangement |
Fr. |
Stop at 1148 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13409 |
NL#D171 | M |
|
NL |
|
0 |
|
| p.Thr1387AsnfsX31 |
c.4160delC |
30 |
1387 |
CRD-repeat #10 |
|
Small rearrangement |
Fr. |
Stop at 1417 |
1  |
|
|
| p.Ala1547LeufsX2 |
c.4638delA |
33 |
1546 |
CRD-repeat #11 |
|
Small rearrangement |
Fr. |
Stop at 1548 |
1  |
|
|
| p.Gln1618GlufsX28 |
c.4851_4870del |
35 |
1617 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1645 |
1  |
|
|
| p.Thr1683IlefsX38 |
c.5048delC |
36 |
1683 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1720 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7349 |
TNMD_CN_HOSP#348 | M |
|
CN |
|
0 |
|
| p.Thr1986ArgfsX17 |
c.5957_5958delCT |
42 |
1986 |
CRD |
|
Small rearrangement |
Fr. |
Stop at 2002 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3434 |
TNMD_FR#F69039673m1 | M |
|
FR |
|
0 |
|
| p.Thr2067SerfsX6 |
c.6200delC |
43 |
2067 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Stop at 2072 |
1  |
|
|
| p.Thr2176GlnfsX13 |
c.6526delA |
45 |
2176 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2188 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15509 |
TNMD_UK#236 | M |
|
UK |
|
0 |
|
| p.Thr2443SerfsX9 |
c.7327_7328delAC |
51 |
2443 |
CRD-hinge region #3 |
|
Small rearrangement |
Fr. |
Stop at 2451 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17291 |
TNMD-US#3374 | M |
|
US |
|
0 |
|
| p.Asp2484ThrfsX10 |
c.7449delC |
51 |
2483 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2493 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6262 |
TNMD_FR#F758513011 | M |
|
FR |
|
0 |
|
| p.Thr3080LeufsX8 |
c.9238_9241delACAA |
63 |
3080 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3087 |
2  |
|
|