| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2667017G>A | CA16602280 | SMCHD1 | n.567G>A c.410G>A (p.Gly137Glu) c.26G>A (p.Gly9Glu) c.-333G>A (n.-333G>A) n.599G>A | ClinVar dbSNP |
| 18 | g.2667017G= | CA2280666802 | SMCHD1 | n.567G= c.410G= (p.Gly137=) c.26G= (p.Gly9=) c.-333G= (n.-333G=) n.599G= | dbSNP |