Cdc42 variants identified in 328 individuals with adult and congenital heart disease (Sydney study)
| Location | Variant | Amino acid change | Patient group | Published SNP frequency | Reference | ||
| AF (n = 100) | CHD (n = 200) | LVNC (n = 28) | |||||
| Intron 3 | −22G>T | NA | 3 (0.03%) | 1 (0.005%) | 0 | NA | Rs41300114 |
| Intron 3 | −8insT | NA | 3 (0.03%) | 8 (0.04%) | 0 | NA | Novel |
| Intron 3 | −3T>C | NA | 0 | 0 | 1 (0.04%) | 3/90 (0.03%) | Rs17837976 |
| Exon 5 | 180G>A | G60G | 0 | 1 (0.005%) | 0 | ||
| Exon 5 | 276C>T | N92N | 1 (0.01%) | 0 | 0 | 1/90 (0.01%) | Rs16826534 |
| Exon 6 | 462T>C | Y154Y | 1 (0.01%) | 0 | 0 | 4/85 (0.05%) | Rs16826536 |
| Exon 8 | 546G>A | P182P | 0 | 0 | 1 (0.04%) | 1/85 (0.01%) | Rs16826536 |
| Location | Variant | Amino acid change | Patient group | Published SNP frequency | Reference | ||
| AF (n = 100) | CHD (n = 200) | LVNC (n = 28) | |||||
| Intron 3 | −22G>T | NA | 3 (0.03%) | 1 (0.005%) | 0 | NA | Rs41300114 |
| Intron 3 | −8insT | NA | 3 (0.03%) | 8 (0.04%) | 0 | NA | Novel |
| Intron 3 | −3T>C | NA | 0 | 0 | 1 (0.04%) | 3/90 (0.03%) | Rs17837976 |
| Exon 5 | 180G>A | G60G | 0 | 1 (0.005%) | 0 | ||
| Exon 5 | 276C>T | N92N | 1 (0.01%) | 0 | 0 | 1/90 (0.01%) | Rs16826534 |
| Exon 6 | 462T>C | Y154Y | 1 (0.01%) | 0 | 0 | 4/85 (0.05%) | Rs16826536 |
| Exon 8 | 546G>A | P182P | 0 | 0 | 1 (0.04%) | 1/85 (0.01%) | Rs16826536 |
AF, atrial fibrillation; CHD, congenital heart disease; LVNC, left ventricular noncompaction; NA, not available; SNP, single nucleotide polymorphism.