| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50189878C>T | CA260298 | COL1A1 | c.2594G>A (p.Arg865His) c.1676G>A (p.Arg559His) c.2396G>A (p.Arg799His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50189878C= | CA2263915895 | COL1A1 | c.2594G= (p.Arg865=) c.1676G= (p.Arg559=) c.2396G= (p.Arg799=) | dbSNP |
| 17 | g.50189878C>G | CA400207251 | COL1A1 | c.2594G>C (p.Arg865Pro) c.1676G>C (p.Arg559Pro) c.2396G>C (p.Arg799Pro) | dbSNP |