| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188985047A>G | CA11134079 | COL3A1 | c.282+85A>G (n.282+85A>G) n.463A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188985047A= | CA1315394250 | COL3A1 | c.282+85A= (n.282+85A=) n.463A= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188985047A>G | CA11134079 | COL3A1 | c.282+85A>G (n.282+85A>G) n.463A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188985047A= | CA1315394250 | COL3A1 | c.282+85A= (n.282+85A=) n.463A= | dbSNP |