| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50190360del | CA260295 | COL1A1 | c.2418del (p.Gly809AlafsTer?) n.345del c.1500del (p.Gly503AlafsTer?) c.2220del (p.Gly743AlafsTer?) | ClinVar dbSNP |
| 17 | g.50190360A= | CA3223295390 | COL1A1 | c.2418T= (p.Gly806=) n.345T= c.1500T= (p.Gly500=) c.2220T= (p.Gly740=) | dbSNP |