Table 1. SMCHD1 variants identified.
| Family | Mutation type | Position | Chromosome position (GRCh37.p5) | Transcript position (NM_015295.2) (NG_031972.1) | Protein position (NP_056110.2) | RNA analysis |
|---|---|---|---|---|---|---|
| Rf947 | Nonsense | Exon 21 | g.2724949C>T | c.2656C>T | p.Arg886* | — |
| Rf947 | 5′ splice site | Exon 21 | g.2724994G>T | c.2700+1G>T | — | r.2604_2700del |
| Rf1414 | 5′ splice site | Exon 25 | g.2732490_2732494del | c.3276_3276+4del | — | — |
| Rf1414 | Missense | Exon 28 | g.2740724G>A | c.3538G>A | p.Gly1180Arg | — |
| Rf385 | Missense | Exon 24 | g.2729300T>G | c.2941T>G | p.Tyr981Asp | — |
| Rf385 | Missense | Exon 45 | g.2784496C>G | c.5596C>G | p.Arg1866Gly | — |