| 2 | g.189008135G>A | CA006567 | COL3A1 | c.3419G>A (p.Gly1140Glu)
c.3518G>A (p.Gly1173Glu)
c.2609G>A (p.Gly870Glu)
| ClinVar dbSNP |
| 2 | g.189008135G>T | CA006574 | COL3A1 | c.3419G>T (p.Gly1140Val)
c.3518G>T (p.Gly1173Val)
c.2609G>T (p.Gly870Val)
| ClinVar dbSNP gnomAD v4 |
