| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Gly618GlnfsX16 |
c.1852_1853delGG |
16 |
618 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 633 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2740 |
TNMD_FR#F757692011 | M |
|
FR |
|
0 |
|
| p.Lys1257AsnfsX26 |
c.3768delG |
27 |
1256 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1282 |
2  |
|
|
| p.Ala1299LeufsX8 |
c.3894delA |
28 |
1298 |
CRD-repeat #9 |
|
Small rearrangement |
Fr. |
Stop at 1306 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17187 |
TNMD-US#2749 | M |
|
US |
|
0 |
|
| p.Gly1614GlufsX15 |
c.4841delG |
34 |
1614 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1628 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3278 |
TNMD_FR#F3422114481 | M |
|
FR |
|
0 |
|
| p.Gly1635ValfsX15 |
c.4904_4911del |
35 |
1635 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1649 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13333 |
NL#D105 | M |
|
NL |
|
0 |
|
| p.Gly2153_Gln2154delinsGlu |
c.6458_6460delGGC |
45 |
2153 |
CRD-repeat #17 |
|
Small rearrangement |
InF |
In frame del |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15469 |
TNMD_UK#216 | M |
|
UK |
|
0 |
|
| p.Gly2186GlufsX3 |
c.6557delG |
45 |
2186 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2188 |
1  |
|
|
| p.Gly2265GlufsX6 |
c.6794delG |
47 |
2265 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2270 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5450 |
TNMD_FR#F69147805m1 | M |
|
FR |
|
0 |
|
| p.Gly3366del |
c.10096_10098delGGA |
70 |
3366 |
Carboxy-terminal region |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Glu3367del |
c.10098_10100delAGA |
70 |
3366 |
Carboxy-terminal region |
|
Small rearrangement |
InF |
In frame del |
1  |
|
|
| p.Tyr3394ThrfsX8 |
c.10179delC |
70 |
3393 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3401 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15061 |
TNMD_UK#11 | M |
|
UK |
|
0 |
|
| p.Tyr3394SerfsX36 |
c.10179_10186del |
70 |
3393 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3429 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13405 |
NL#D169 | M |
|
NL |
|
0 |
|