| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys18GlufsX13 |
c.50_51delAA |
2 |
17 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 30 |
1  |
|
|
| p.Gln45ArgfsX7 |
c.134delA |
3 |
45 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 51 |
1  |
|
|
| p.Gln401AsnfsX6 |
c.1201delC |
11 |
401 |
CRD-repeat #1 |
|
Small rearrangement |
Fr. |
Stop at 406 |
1  |
|
|
| p.Gln562AsnfsX21 |
c.1684delC |
14 |
562 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2710 |
TNMD_FR#F3431517201 | M |
|
FR |
|
0 |
|
| p.Gln673AsnfsX43 |
c.2017_2027del |
17 |
673 |
CRD-hinge region #2 |
|
Small rearrangement |
Fr. |
Stop at 715 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2786 |
TNMD_FR#F750893011 | M |
|
FR |
|
0 |
|
| p.Gln743HisfsX16 |
c.2229_2232delGAGT |
18 |
743 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 758 |
1  |
|
|
| p.Gly903AspfsX46 |
c.2706delA |
21 |
902 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 948 |
2  |
|
|
| p.Gln945ArgfsX4 |
c.2833delC |
22 |
945 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 948 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7843 |
TNMD_CN_HOSP#96 | M |
|
CN |
|
0 |
|
| p.Gln1367ArgfsX15 |
c.4100delA |
30 |
1367 |
CRD-repeat #9 |
|
Small rearrangement |
Fr. |
Stop at 1381 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15913 |
TNMD-US#284 | M |
|
US |
|
0 |
|
| p.Gln1711SerfsX10 |
c.5131delC |
36 |
1711 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1720 |
1  |
|
|
| p.Gly1831ArgfsX10 |
c.5487_5488delAA |
39 |
1829 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1840 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3366 |
TNMD_FR#F750769011 | M |
|
FR |
|
0 |
|
| p.Gln1851SerfsX14 |
c.5551delC |
39 |
1851 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1864 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3372 |
TNMD_FR#F3413408721 | M |
|
FR |
|
0 |
|
| p.Thr1856AsnfsX8 |
c.5565_5568delGACA |
39 |
1855 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1863 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3376 |
TNMD_FR#F3423413441 | M |
|
FR |
|
0 |
|
| p.Arg1868GlufsX6 |
c.5601delA |
40 |
1867 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1873 |
2  |
|
|
| p.Arg2098AspfsX16 |
c.6288delA |
43 |
2096 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Stop at 2113 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 206 |
TNMD_BE_AR#4 | M |
|
BE |
|
0 |
|
| p.Gln2131AsnfsX3 |
c.6391_6392delCA |
44 |
2131 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2133 |
4  |
|
|
| p.Gln2131HisfsX3 |
c.6393_6394delAA |
44 |
2131 |
CRD-repeat #17 |
|
Small rearrangement |
Fr. |
Stop at 2133 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17175 |
TNMD-US#2731 | M |
|
US |
|
0 |
|
| p.Gln2269AsnfsX2 |
c.6805delC |
47 |
2269 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2270 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5454 |
TNMD_FR#F758342011 | M |
|
FR |
|
0 |
|
| p.Gln2447ThrfsX5 |
c.7339_7340delCA |
51 |
2447 |
CRD-hinge region #3 |
|
Small rearrangement |
Fr. |
Stop at 2451 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7485 |
TNMD_CN_HOSP#278 | M |
|
CN |
|
0 |
|
| p.Gln2518ArgfsX20 |
c.7552delC |
52 |
2518 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2537 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16853 |
TNMD-US#2055 | M |
|
US |
|
0 |
|
| p.Gln2522ArgfsX16 |
c.7565delA |
52 |
2522 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2537 |
1  |
|
|
| p.Gln2625SerfsX13 |
c.7873delC |
54 |
2625 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2637 |
2  |
|
|
| p.Gln2634ArgfsX4 |
c.7901delA |
54 |
2634 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2637 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 216 |
TNMD_BE_AR#10 | M |
|
BE |
|
0 |
|
| p.Gln3058ArgfsX31 |
c.9173delA |
62 |
3058 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3088 |
1  |
|
|
| p.Val3222TrpfsX61 |
c.9663delA |
67 |
3221 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3282 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6834 |
TNMD_FR#F757485011 | M |
|
FR |
|
0 |
|
| p.Gln3493ArgfsX3 |
c.10478delA |
74 |
3493 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3495 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17297 |
TNMD-US#3408 | M |
|
US |
|
0 |
|