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Incidence of SPTLC1 and SPTLC2 variants across HSAN1 patient cohort.
| Variant | HSAN1 patients included | MacTel affected/predicted | MacTel unaffected |
|---|---|---|---|
| SPTLC1 C133Y | 8 | 8 | – |
| SPTLC1 C133W | 11 | – | 11 |
| SPTLC1 V144D | 1 | – | 1 |
| SPTLC2 A182P | 2 | – | 2 |
| SPTLC2 N177H | 1 | – | 1 |
| SPTLC2 S384F | 2 | 1 | 1 |
| TOTAL | 25 | 9 | 16 |
