| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189007501G>T | CA16610641 | COL3A1 | c.3158G>T (p.Gly1053Val) c.3257G>T (p.Gly1086Val) c.2528-553G>T (n.2528-553G>T) | ClinVar dbSNP |
| 2 | g.189007501G= | CA1315404793 | COL3A1 | c.3158G= (p.Gly1053=) c.3257G= (p.Gly1086=) c.2528-553G= (n.2528-553G=) | dbSNP |