Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188999471G>C | CA16604062 | COL3A1 | c.2024G>C (p.Gly675Ala) c.2123G>C (p.Gly708Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.188999471G>T | CA005071 | COL3A1 | c.2024G>T (p.Gly675Val) c.2123G>T (p.Gly708Val) | ClinVar dbSNP |
2 | g.188999471G>A | CA62554598 | COL3A1 | c.2024G>A (p.Gly675Asp) c.2123G>A (p.Gly708Asp) | ClinVar dbSNP |