Summary of variants
| Family | Proband | Gene | Variant | Type | Frequency* | Predicted effects† |
|---|---|---|---|---|---|---|
| F1 | Male | FRMD7 | c.1090C>T (p.Q364X) | Hemizygous | None | Damaging |
| F2 | Male | FRMD7 | c.781C>G (p.R261G) | Hemizygous | None | Damaging |
| F6 | Female | FRMD7 | c.1403G>A (p.R468H) | Heterozygous | 0.07 | Tolerated |
| F7 | Female | FRMD7 | c.1403G>A (p.R468H) | Heterozygous | 0.07 | Tolerated |
| F20 | Female | FRMD7 | c.1533T>C (no change) | Heterozygous | 0.26 | Tolerated |
*Data from the 1000 Genomes Project.
†Predicted by SIFT.