| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189007569C>T | CA006314 | COL3A1 | c.3226C>T (p.Arg1076Ter) c.3325C>T (p.Arg1109Ter) c.2528-485C>T (n.2528-485C>T) | ClinVar dbSNP COSMIC |
| 2 | g.189007569C>G | CA006308 | COL3A1 | c.3226C>G (p.Arg1076Gly) c.3325C>G (p.Arg1109Gly) c.2528-485C>G (n.2528-485C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189007569C>A | CA430313314 | COL3A1 | c.3226C>A (p.Arg1076=) c.3325C>A (p.Arg1109=) c.2528-485C>A (n.2528-485C>A) | dbSNP |