| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50187486G>T | CA8644456 | COL1A1 | c.3421C>A (p.Arg1141=) c.3151C>A (p.Arg1051=) c.2503C>A (p.Arg835=) c.3223C>A (p.Arg1075=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50187486G>A | CA281092 | COL1A1 | c.3421C>T (p.Arg1141Ter) c.3151C>T (p.Arg1051Ter) c.2503C>T (p.Arg835Ter) c.3223C>T (p.Arg1075Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |