| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47976052C>T | CA127173 | COL2A1 | c.3301G>A (p.Gly1101Ser) c.3508G>A (p.Gly1170Ser) n.2594G>A n.361G>A c.3652G>A (p.Gly1218Ser) c.3649G>A (p.Gly1217Ser) c.2596G>A (p.Gly866Ser) c.3442G>A (p.Gly1148Ser) c.2962G>A (p.Gly988Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47976052C>G | CA384537426 | COL2A1 | c.3301G>C (p.Gly1101Arg) c.3508G>C (p.Gly1170Arg) n.2594G>C n.361G>C c.3652G>C (p.Gly1218Arg) c.3649G>C (p.Gly1217Arg) c.2596G>C (p.Gly866Arg) c.3442G>C (p.Gly1148Arg) c.2962G>C (p.Gly988Arg) | ClinVar dbSNP |
| 12 | g.47976052C= | CA2034474953 | COL2A1 | c.3301G= (p.Gly1101=) c.3508G= (p.Gly1170=) n.2594G= n.361G= c.3652G= (p.Gly1218=) c.3649G= (p.Gly1217=) c.2596G= (p.Gly866=) c.3442G= (p.Gly1148=) c.2962G= (p.Gly988=) | dbSNP |