| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977607C>T | CA250668 | COL2A1 | c.2951G>A (p.Gly984Glu) c.3158G>A (p.Gly1053Glu) n.2244G>A c.3302G>A (p.Gly1101Glu) c.3299G>A (p.Gly1100Glu) c.2246G>A (p.Gly749Glu) c.3092G>A (p.Gly1031Glu) c.2612G>A (p.Gly871Glu) | ClinVar dbSNP |
| 12 | g.47977607C= | CA2034476500 | COL2A1 | c.2951G= (p.Gly984=) c.3158G= (p.Gly1053=) n.2244G= c.3302G= (p.Gly1101=) c.3299G= (p.Gly1100=) c.2246G= (p.Gly749=) c.3092G= (p.Gly1031=) c.2612G= (p.Gly871=) | dbSNP |
| 12 | g.47977607C>G | CA384540507 | COL2A1 | c.2951G>C (p.Gly984Ala) c.3158G>C (p.Gly1053Ala) n.2244G>C c.3302G>C (p.Gly1101Ala) c.3299G>C (p.Gly1100Ala) c.2246G>C (p.Gly749Ala) c.3092G>C (p.Gly1031Ala) c.2612G>C (p.Gly871Ala) | ClinVar dbSNP |