| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974835C>G | CA384536102 | COL2A1 | c.3707G>C (p.Gly1236Ala) c.3914G>C (p.Gly1305Ala) n.3000G>C c.4058G>C (p.Gly1353Ala) c.4055G>C (p.Gly1352Ala) c.3002G>C (p.Gly1001Ala) c.3848G>C (p.Gly1283Ala) c.3368G>C (p.Gly1123Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47974835C>T | CA127167 | COL2A1 | c.3707G>A (p.Gly1236Asp) c.3914G>A (p.Gly1305Asp) n.3000G>A c.4058G>A (p.Gly1353Asp) c.4055G>A (p.Gly1352Asp) c.3002G>A (p.Gly1001Asp) c.3848G>A (p.Gly1283Asp) c.3368G>A (p.Gly1123Asp) | ClinVar dbSNP |
| 12 | g.47974835C= | CA2034473097 | COL2A1 | c.3707G= (p.Gly1236=) c.3914G= (p.Gly1305=) n.3000G= c.4058G= (p.Gly1353=) c.4055G= (p.Gly1352=) c.3002G= (p.Gly1001=) c.3848G= (p.Gly1283=) c.3368G= (p.Gly1123=) | dbSNP |