| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188991016C>T | CA16603961 | COL3A1 | c.811C>T (p.Arg271Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.188991016C>A | CA430309125 | COL3A1 | c.811C>A (p.Arg271=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.188991016C= | CA1315397384 | COL3A1 | c.811C= (p.Arg271=) | dbSNP |