| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50194380C>T | CA260278 | COL1A1 | c.1583G>A (p.Arg528His) n.527G>A c.958-1687G>A (n.958-1687G>A) c.1385G>A (p.Arg462His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50194380C>A | CA400216503 | COL1A1 | c.1583G>T (p.Arg528Leu) n.527G>T c.958-1687G>T (n.958-1687G>T) c.1385G>T (p.Arg462Leu) | dbSNP gnomAD v2 gnomAD v4 |