| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47986353C>A | CA250682 | COL2A1 | c.1303G>T (p.Gly435Cys) c.1510G>T (p.Gly504Cys) n.434G>T c.1654G>T (p.Gly552Cys) c.1651G>T (p.Gly551Cys) c.598G>T (p.Gly200Cys) c.1444G>T (p.Gly482Cys) c.964G>T (p.Gly322Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47986353C>T | CA251240 | COL2A1 | c.1303G>A (p.Gly435Ser) c.1510G>A (p.Gly504Ser) n.434G>A c.1654G>A (p.Gly552Ser) c.1651G>A (p.Gly551Ser) c.598G>A (p.Gly200Ser) c.1444G>A (p.Gly482Ser) c.964G>A (p.Gly322Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47986353C>G | CA384552454 | COL2A1 | c.1303G>C (p.Gly435Arg) c.1510G>C (p.Gly504Arg) n.434G>C c.1654G>C (p.Gly552Arg) c.1651G>C (p.Gly551Arg) c.598G>C (p.Gly200Arg) c.1444G>C (p.Gly482Arg) c.964G>C (p.Gly322Arg) | dbSNP |
| 12 | g.47986353C= | CA2034456909 | COL2A1 | c.1303G= (p.Gly435=) c.1510G= (p.Gly504=) n.434G= c.1654G= (p.Gly552=) c.1651G= (p.Gly551=) c.598G= (p.Gly200=) c.1444G= (p.Gly482=) c.964G= (p.Gly322=) | dbSNP |