| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46114006A>G | CA16043569 | COL6A2 | c.736-2A>G (n.736-2A>G) n.390A>G n.859-2A>G n.866-2A>G | ClinVar dbSNP |
| 21 | g.46114006A= | CA2392499451 | COL6A2 | c.736-2A= (n.736-2A=) n.390A= n.859-2A= n.866-2A= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46114006A>G | CA16043569 | COL6A2 | c.736-2A>G (n.736-2A>G) n.390A>G n.859-2A>G n.866-2A>G | ClinVar dbSNP |
| 21 | g.46114006A= | CA2392499451 | COL6A2 | c.736-2A= (n.736-2A=) n.390A= n.859-2A= n.866-2A= | dbSNP |