| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188988099G>T | CA006945 | COL3A1 | c.547G>T (p.Gly183Cys) | ClinVar dbSNP COSMIC COSMIC |
| 2 | g.188988099G>A | CA006927 | COL3A1 | c.547G>A (p.Gly183Ser) | ClinVar dbSNP |
| 2 | g.188988099G>C | CA006935 | COL3A1 | c.547G>C (p.Gly183Arg) | ClinVar dbSNP |
| 2 | g.188988099G= | CA1315395571 | COL3A1 | c.547G= (p.Gly183=) | dbSNP |