| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.2667015A>C | CA16602279 | SMCHD1 | n.565A>C c.408A>C (p.Glu136Asp) c.24A>C (p.Glu8Asp) c.-335A>C (n.-335A>C) n.597A>C | ClinVar dbSNP |
| 18 | g.2667015A>G | CA502670776 | SMCHD1 | n.565A>G c.408A>G (p.Glu136=) c.24A>G (p.Glu8=) c.-335A>G (n.-335A>G) n.597A>G | ClinVar dbSNP gnomAD v4 |
| 18 | g.2667015A= | CA2280666801 | SMCHD1 | n.565A= c.408A= (p.Glu136=) c.24A= (p.Glu8=) c.-335A= (n.-335A=) n.597A= | dbSNP |