| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2667010A>T | CA16602281 | SMCHD1 | n.560A>T c.403A>T (p.Ser135Cys) c.19A>T (p.Ser7Cys) c.-340A>T (n.-340A>T) n.592A>T | ClinVar dbSNP |
| 18 | g.2667010A= | CA2280666799 | SMCHD1 | n.560A= c.403A= (p.Ser135=) c.19A= (p.Ser7=) c.-340A= (n.-340A=) n.592A= | dbSNP |