All variants found in HACE1
| Location | Rs No | Nucleotide change | Protein change |
| Intron 1 | rs2499655 | c.76+7C>T | |
| Intron 1 | rs9499992 | c.77−4T>C | |
| Intron 9 | rs6918700 | c.816+4T>A | |
| Exon 11 | c.988G>A | p.V329I | |
| Exon 11 | c.1092G>A | p.W364X | |
| Exon 12 | c.1132T>C | p.L378L | |
| Exon 12 | c.1160A>G | p.E387G | |
| Exon 12 | rs34365906 | c.1196A>G | p.D399G |
| Exon 12 | c.1390T>A | p.S464T | |
| Exon 20 | rs7752614 | c.2292T>C | p.F764F |
| Intron 21 | rs11470529 | c.2443−10insTTG |