| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188995061C>T | CA16042424 | COL3A1 | c.1372C>T (p.Arg458Ter) c.1471C>T (p.Arg491Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188995061C= | CA1315398824 | COL3A1 | c.1372C= (p.Arg458=) c.1471C= (p.Arg491=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188995061C>T | CA16042424 | COL3A1 | c.1372C>T (p.Arg458Ter) c.1471C>T (p.Arg491Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.188995061C= | CA1315398824 | COL3A1 | c.1372C= (p.Arg458=) c.1471C= (p.Arg491=) | dbSNP |