| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50193003del | CA260283 | COL1A1 | c.1812del (p.Gly605AlafsTer?) n.161del c.958-310del (n.958-310del) c.1614del (p.Gly539AlafsTer?) | ClinVar dbSNP |
| 17 | g.50193003A= | CA2263917250 | COL1A1 | c.1812T= (p.Pro604=) n.161T= c.958-310T= (n.958-310T=) c.1614T= (p.Pro538=) | dbSNP dbSNP |