| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.188999354G>C | CA349840253 | COL3A1 | c.1993G>C (p.Ala665Pro) c.2092G>C (p.Ala698Pro) | dbSNP |
| 2 | g.188999354G>A | CA004987 | COL3A1 | c.1993G>A (p.Ala665Thr) c.2092G>A (p.Ala698Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.188999354G>T | CA349840257 | COL3A1 | c.1993G>T (p.Ala665Ser) c.2092G>T (p.Ala698Ser) | dbSNP |