| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50186386C>A | CA127146 | COL1A1 | c.3936G>T (p.Trp1312Cys) n.605G>T c.3666G>T (p.Trp1222Cys) c.3018G>T (p.Trp1006Cys) c.3738G>T (p.Trp1246Cys) | ClinVar dbSNP |
| 17 | g.50186386C>T | CA400193384 | COL1A1 | c.3936G>A (p.Trp1312Ter) n.605G>A c.3666G>A (p.Trp1222Ter) c.3018G>A (p.Trp1006Ter) c.3738G>A (p.Trp1246Ter) | ClinVar dbSNP |