| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile855LysfsX17 |
c.2562_2563dup |
20 |
855 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 871 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16115 |
TNMD-US#614 | M |
|
US |
|
0 |
|
| p.Ile1083PhefsX18 |
c.3247insTTTCTAAAAA |
24 |
1083 |
CRD-repeat #7 |
|
Small rearrangement |
Fr. |
Stop at 1100 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16407 |
TNMD-US#1113 | M |
|
US |
|
0 |
|
| p.Ile2283SerfsX9 |
c.6843_6846dup |
47 |
2283 |
CRD-repeat #18 |
|
Small rearrangement |
Fr. |
Stop at 2291 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5458 |
TNMD_FR#F3440220331 | M |
|
FR |
|
0 |
|
| p.Ser2284LysfsX7 |
c.6848dup |
47 |
2283 |
CRD-repeat #18 |
|
Small rearrangement |
|
Stop at 2290 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 5456 |
TNMD_FR#F3418412391 | M |
|
FR |
|
0 |
|
| p.Ile2316AsnfsX2 |
c.6946dup |
48 |
2316 |
CRD-repeat #18 |
|
Small rearrangement |
|
Stop at 2317 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7375 |
TNMD_CN_HOSP#335 | M |
|
CN |
|
0 |
|
| p.Ile2620AsnfsX23 |
c.7858dup |
53 |
2620 |
CRD-repeat #21 |
|
Small rearrangement |
|
Stop at 2642 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6482 |
TNMD_FR#F755111011 | M |
|
FR |
|
0 |
|
| p.Ile2762AsnfsX10 |
c.8284dup |
56 |
2762 |
CRD-repeat #22 |
|
Small rearrangement |
|
Stop at 2771 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7377 |
TNMD_CN_HOSP#334 | M |
|
CN |
|
0 |
|