| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser319HisfsX16 |
c.955delT |
9 |
319 |
CRD-hinge region #1 |
|
Small rearrangement |
Fr. |
Stop at 334 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7355 |
TNMD_CN_HOSP#345 | M |
|
CN |
|
0 |
|
| p.Ser521ArgfsX61 |
c.1563_1566delTGGA |
13 |
521 |
CRD-repeat #2 |
|
Small rearrangement |
Fr. |
Stop at 581 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16723 |
TNMD-US#1774 | M |
|
US |
|
0 |
|
| p.Ser576GlnfsX7 |
c.1726delT |
15 |
576 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2718 |
TNMD_FR#F752502011 | M |
|
FR |
|
0 |
|
| p.Ser733AlafsX27 |
c.2197delA |
18 |
733 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 759 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13655 |
NL#D354 | M |
|
NL |
|
0 |
|
| p.Pro745X |
c.2230_2231delAG |
18 |
744 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 745 |
3  |
|
|
| p.Asp758ThrfsX2 |
c.2271delA |
18 |
757 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 759 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7449 |
TNMD_CN_HOSP#297 | M |
|
CN |
|
0 |
|
| p.Ser800ArgfsX9 |
c.2400delC |
20 |
800 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 808 |
1  |
|
|
| p.Arg811LeufsX6 |
c.2430_2443del |
20 |
810 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 816 |
1  |
|
|
| p.Ser987LysfsX20 |
c.2960_2979del |
23 |
987 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 1006 |
1  |
|
|
| p.Ser1033LeufsX5 |
c.3097_3098delTC |
23 |
1033 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 1037 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13483 |
NL#D238 | M |
|
NL |
|
0 |
|
| p.Ser1316X |
c.3947_3948delCA |
29 |
1316 |
CRD-repeat #9 |
|
Small rearrangement |
Fr. |
Stop at 1316 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3190 |
TNMD_FR#F69096826m1 | M |
|
FR |
|
0 |
|
| p.Ser1513LysfsX2 |
c.4538_4541delGTGA |
33 |
1513 |
CRD-repeat #11 |
|
Small rearrangement |
Fr. |
Stop at 1514 |
2  |
|
|
| p.Thr1734SerfsX10 |
c.5199_5209del |
37 |
1733 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1743 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18812 |
TNMD_NZ#138 | M |
|
NZ |
|
0 |
|
| p.Ser1758ArgfsX14 |
c.5272_5273delTC |
37 |
1758 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1771 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3334 |
TNMD_FR#F751471011 | M |
|
FR |
|
0 |
|
| p.Ser1902TyrfsX10 |
c.5704_5707delAGCC |
40 |
1902 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Stop at 1911 |
3  |
|
|
| p.Ser1994PhefsX8 |
c.5981delC |
42 |
1994 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Stop at 2001 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15275 |
TNMD_UK#119 | M |
|
UK |
|
0 |
|
| p.Leu2465X |
c.7392delC |
51 |
2464 |
CRD-hinge region #3 |
|
Small rearrangement |
Fr. |
Stop at 2465 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6256 |
TNMD_FR#F758310011 | M |
|
FR |
|
0 |
|
| p.Glu2681LeufsX44 |
c.8034_8037delTGAG |
55 |
2678 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2724 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17 |
TREAT_NMD_AR#AHGD73 | M |
|
AR |
|
0 |
|
| p.His2799GlnfsX3 |
c.8392_8402del |
57 |
2798 |
CRD-repeat #22 |
|
Small rearrangement |
Fr. |
Stop at 2801 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6576 |
TNMD_FR#F3427015291 | M |
|
FR |
|
0 |
|
| p.Ser2813PhefsX11 |
c.8438delC |
57 |
2813 |
CRD-repeat #23 |
|
Small rearrangement |
Fr. |
Stop at 2823 |
1  |
|
|
| p.Ser3054ProfsX35 |
c.9160delT |
61 |
3054 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3088 |
1  |
|
|
| p.Ser3225GlnfsX58 |
c.9673delT |
67 |
3225 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3282 |
1  |
|
|
| p.Ser3343LeufsX34 |
c.10027delT |
69 |
3343 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
1  |
|
|
| p.Ser3497ProfsX2 |
c.10489delT |
74 |
3497 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3498 |
1  |
|
|
| p.Ser3500ArgfsX14 |
c.10500_10501delTG |
74 |
3500 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3513 |
1  |
|
|