TABLE 3.
Gene | Mutation type | cDNA Change a | Protein change | Minor allele frequency b | Functional prediction c | ||||
---|---|---|---|---|---|---|---|---|---|
1KG | ExAC | gnomAD | DANN | MutationTaster | CADD | ||||
WT1 | Heterozygous | c. C1387T | p.R463* | 0 | 0 | 0.000006583 | Damaging | Damaging | 14.003 |
The GenBank accession number of WT1 is NM_024426.4.
Allele frequencies were estimated according to the 1KG Project, ExAC, and gnomAD databases.
Mutation assessment using MutationTaster and CADD tools. High CADD scores suggest that a variant is likely to have deleterious effects. The CADD cutoff is usually set at 4.