Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.164_164+1delinsTTAC |
2 |
56 |
4-cys motif LTBP-like |
|
Small rearrangement |
indels |
indels |
1  |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3296 |
NET05GRO F0048 I0001 | NA |
Heterozygous |
NETHERLAND |
NA |
272 |
|
p.Asp1238 |
c.3713_3714delinsCA |
30 |
1239 |
cb EGF-like #16 |
Ca2+ binding |
Small rearrangement |
indels |
indels |
1  |
UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
3318 |
UKD09SAL F0018 I0001 | NA |
Heterozygous |
U.K. |
NA |
242 |
|