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 |