Table 4.
Gene | Chromosome | Start-End | Exon | Nucleotide substitution | Protein substitution | EXAC Frequency | CADD Score |
---|---|---|---|---|---|---|---|
GPAA1 | Chr8 | 145140564 | 11 | c.G1540A | p.A514T | 0.0053 | 15.04 |
RECQL4 | Chr8 | 145740364 | 9 | c.C1576T | p.L526F | 0.0007 | 16.37 |
Gene | Chromosome | Start-End | Exon | Nucleotide substitution | Protein substitution | EXAC Frequency | CADD Score |
---|---|---|---|---|---|---|---|
GPAA1 | Chr8 | 145140564 | 11 | c.G1540A | p.A514T | 0.0053 | 15.04 |
RECQL4 | Chr8 | 145740364 | 9 | c.C1576T | p.L526F | 0.0007 | 16.37 |