| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189006400G>A | CA006135 | COL3A1 | c.3050G>A (p.Gly1017Asp) c.3149G>A (p.Gly1050Asp) c.2528-1654G>A (n.2528-1654G>A) | ClinVar dbSNP |
| 2 | g.189006400G>T | CA006143 | COL3A1 | c.3050G>T (p.Gly1017Val) c.3149G>T (p.Gly1050Val) c.2528-1654G>T (n.2528-1654G>T) | ClinVar dbSNP |
| 2 | g.189006400G= | CA1315404105 | COL3A1 | c.3050G= (p.Gly1017=) c.3149G= (p.Gly1050=) c.2528-1654G= (n.2528-1654G=) | dbSNP |