Genotype to phenotype correlation of the mutations detected
| Genotype | Type I adult | Type I childhood | Type II | Type III |
|---|---|---|---|---|
| N370S/N370S | 4 (2) | 0 | 0 | 0 |
| N370S/L444P | 1 | 0 | 0 | 0 |
| N370S/R463C | 4 (1) | 1 | 0 | 0 |
| N370S/RecNciI | 2 (1) | 0 | 0 | 0 |
| N370S/RecA456P | 0 | 1 | 0 | 0 |
| N370S/? | 3 | 1 | 0 | 0 |
| L444P/L444P | 0 | 2 | 1 | 4 |
| L444P/R463C | 2 | 1 | 0 | 0 |
| L444P/c1263del+RecTL | 0 | 0 | 1 | 0 |
| L444P/? | 1 | 1 | 7 | 0 |
| R463C/R463C | 1 | 0 | 0 | 0 |
| R463C/RecNciI | 0 | 2 | 0 | 0 |
| R463C/IVS2+1 | 0 | 1 | 0 | 0 |
| R463C/D409H | 0 | 1 | 0 | 0 |
| R463C/c1263del | 0 | 1 | 0 | 0 |
| c1263del/? | 0 | 0 | 1 | 0 |
| N462K/? | 0 | 0 | 1 | 0 |
| ?/? | 0 | 0 | 1 | 0 |
Numbers in parentheses are patients of Ashkenazi Jewish origin.