Table 1.
Distribution of the most common dominant variants in dominant and recessive HPP.
| Dominant allele | Number of dominant genotypes [moderate HPP] | Number of recessive genotypes [severe or moderate HPP] |
|---|---|---|
| c.1250A>G p.(N417S) | 11 | 9 |
| c.346G>A p.(A116T) | 7 | 5 |
| c.1001G>A p.(G334D) | 1 | 8 |
| c.668G>A p.(R223Q) | 1 | 7 |
| c.299C>T p.(T100M) | 1 | 7 |
| c.212G>A p.(R71H) | 6 | 1 |
| c.1172G>A p.(R391H) | 3 | 4 |
| c.550C>T p.(R184W) | 4 | 2 |
| c.1426G>A p.(E476K) | 4 | 2 |
| c.551G>A p.(R184Q) | 4 | 1 |
| c.1133A>T p.(D378V) | 3 | 1 |
| c.1015G>A p.(G339R) | 3 | 2 |
| c.512A>G p.(H171R) | 0 | 7 |
| Total | 48 | 56 |
Reference sequences used: NM_000478.6 (ENST000000374840.8).