| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50189521del | CA260301 | COL1A1 | c.2685del (p.Gly896AlafsTer?) c.2667+158del (n.2667+158del) c.1767del (p.Gly590AlafsTer?) c.2487del (p.Gly830AlafsTer?) | ClinVar dbSNP |
| 17 | g.50189521A= | CA3223295389 | COL1A1 | c.2685T= (p.Pro895=) c.2667+158T= (n.2667+158T=) c.1767T= (p.Pro589=) c.2487T= (p.Pro829=) | dbSNP |