| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189008108G>A | CA006480 | COL3A1 | c.3392G>A (p.Gly1131Glu) c.3491G>A (p.Gly1164Glu) c.2582G>A (p.Gly861Glu) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.189008108G>T | CA006487 | COL3A1 | c.3392G>T (p.Gly1131Val) c.3491G>T (p.Gly1164Val) c.2582G>T (p.Gly861Val) | ClinVar dbSNP |
| 2 | g.189008108G= | CA1315405107 | COL3A1 | c.3392G= (p.Gly1131=) c.3491G= (p.Gly1164=) c.2582G= (p.Gly861=) | dbSNP |