| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Leu44ArgfsX46 |
c.127_130dup |
3 |
44 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 89 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 1914 |
TNMD_FR#F758761011 | M |
|
FR |
|
0 |
|
| p.Leu62ThrfsX27 |
c.183dup |
3 |
62 |
Actin binding domain |
|
Small rearrangement |
|
Stop at 88 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16001 |
TNMD-US#427 | M |
|
US |
|
0 |
|
| p.Leu400HisfsX6 |
c.1199insA |
11 |
400 |
CRD-repeat #1 |
|
Small rearrangement |
|
Stop at 405 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7057 |
TNMD_CN_HOSP#499 | M |
|
CN |
|
0 |
|
| p.Leu402PhefsX4 |
c.1205dup |
11 |
402 |
CRD-repeat #1 |
|
Small rearrangement |
Fr. |
Stop at 405 |
1  |
|
|
| p.Asn809GlufsX13 |
c.2424insA |
20 |
808 |
CRD-repeat #4 |
|
Small rearrangement |
|
Stop at 821 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16775 |
TNMD-US#1857 | M |
|
US |
|
0 |
|
| p.Leu853delinsPhe |
c.2557_2558dup |
20 |
853 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Ins |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2944 |
TNMD_FR#F759222011 | M |
|
FR |
|
0 |
|
| p.Leu880MetfsX16 |
c.2624_2637dup |
21 |
880 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 895 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2962 |
TNMD_FR#F757644011 | M |
|
FR |
|
0 |
|
| p.Val1037GlyfsX2 |
c.3107dup |
23 |
1036 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 1038 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15157 |
TNMD_UK#60 | M |
|
UK |
|
0 |
|
| p.Thr1244AsnfsX10 |
c.3728dup |
27 |
1243 |
CRD-repeat #8 |
|
Small rearrangement |
|
Stop at 1253 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7213 |
TNMD_CN_HOSP#419 | M |
|
CN |
|
0 |
|
| p.Leu1451IlefsX18 |
c.4350dup |
32 |
1451 |
CRD-repeat #10 |
|
Small rearrangement |
|
Stop at 1468 |
2  |
|
|
| p.Leu1674PhefsX48 |
c.5020_5021dup |
35 |
1674 |
CRD-repeat #12 |
|
Small rearrangement |
|
Stop at 1721 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 931 |
TNMD_CH#13 | M |
|
CH |
|
0 |
|
| p.Leu1900IlefsX6 |
c.5697dup |
40 |
1900 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Stop at 1905 |
2  |
|
|
| p.Leu2185PhefsX38 |
c.6554dup |
45 |
2185 |
CRD-repeat #17 |
|
Small rearrangement |
|
Stop at 2222 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5110 |
TNMD_FR#F759260011 | M |
|
FR |
|
0 |
|
| p.Leu2337PhefsX2 |
c.7009_7010dup |
48 |
2337 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2338 |
1  |
|
|
| p.Leu2427ProfsX26 |
c.7279dup |
50 |
2427 |
CRD-hinge region #3 |
|
Small rearrangement |
Fr. |
Stop at 2452 |
1  |
|
|
| p.Leu2696ProfsX14 |
c.8086dup |
55 |
2696 |
CRD-repeat #22 |
|
Small rearrangement |
|
Stop at 2709 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13315 |
NL#D086 | M |
|
NL |
|
0 |
|
| p.Leu2725ProfsX20 |
c.8171dup |
55 |
2724 |
CRD-repeat #22 |
|
Small rearrangement |
Fr. |
Stop at 2744 |
1  |
|
|
| p.Leu3053SerfsX45 |
c.9156dup |
61 |
3053 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3097 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9908 |
TNMD_HK#49 | M |
|
HK |
|
0 |
|
| p.Leu3485ProfsX6 |
c.10453dup |
74 |
3485 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3490 |
2  |
|
|
| p.Ser3486GlufsX5 |
c.10454dup |
74 |
3485 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3490 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7016 |
TNMD_FR#F759912011 | M |
|
FR |
|
0 |
|