From: Identification and analysis of KLF13 variants in patients with congenital heart disease
Patient | Age | Cardiac Phenotype | Location in Gene | Function | Nucleotide Change | Amino acid Change | SIFT | Mutation taster | PolyPhen- V2 | Allele Frequency |
---|---|---|---|---|---|---|---|---|---|---|
1 | 7 Months | D-TGA | Exon 1 | Missense | c.467G > A | S156N | 0.04 | 0.01652 | 0.818 | 0.003236 |
2 | 9 Months | TA VSD ASD | Exon 1 | Missense | c.487C > T | P163S | 0.57 | 0.93386 | 0.314 | 0.003236 |