| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50185991del | CA16620470 | COL1A1 | c.4035del (p.Ala1346ProfsTer7) n.1000del c.3765del (p.Ala1256ProfsTer7) c.3117del (p.Ala1040ProfsTer7) c.3837del (p.Ala1280ProfsTer7) | ClinVar dbSNP |
| 17 | g.50185991A= | CA2263913962 | COL1A1 | c.4035T= (p.Pro1345=) n.1000T= c.3765T= (p.Pro1255=) c.3117T= (p.Pro1039=) c.3837T= (p.Pro1279=) | dbSNP dbSNP |