| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50196948T>C | CA15902775 | COL1A1 | c.804+62A>G (n.804+62A>G) n.531+62A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50196948T>A | CA772794592 | COL1A1 | c.804+62A>T (n.804+62A>T) n.531+62A>T | dbSNP |
| 17 | g.50196948T= | CA2263919519 | COL1A1 | c.804+62A= (n.804+62A=) n.531+62A= | dbSNP |