Table 3. MAP1B LoF qualifying variants identified in PVNH patients.
| Variant ID (chr-position-ref-var, hg19) |
Proband ID | Parental origin | Ethnicity (self-declared, inferred from genetic data) | Variant/reference depth (proband): (transmitting parent) | Annotation* |
|---|---|---|---|---|---|
| 5-71490089-C-T | pvhnd29281lw1 | de novo | American Indian—Alaska Native/European | 63/70: NA | c.907C>T;p.(Arg303*) |
| 5-71490776-C-T | pvhcw12701bvi1 | inherited from father | European/European | 38/31: 26/29 | c.1594C>T;p.(Gln532*) |
| 5-71492498-C-T | pvhnz9000cfc1 | inherited from mother | Unknown/European | 43/39: 35/26 | c.3316C>T;p.(Arg1106*) |
| 5-71489999-GC-G | pvhit1238Pbti1 | inherited from father | European/European | 44/50: 47/55 | c.818delC;p.(Leu274Cysfs*4) |
*Annotations are based on the canonical transcript NM_005909.3.