| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977627del | CA281745 | COL2A1 | c.2931del (p.Gly978AlafsTer?) c.3138del (p.Gly1047AlafsTer?) n.2224del c.3282del (p.Gly1095AlafsTer?) c.3279del (p.Gly1094AlafsTer?) c.2226del (p.Gly743AlafsTer?) c.3072del (p.Gly1025AlafsTer?) c.2592del (p.Gly865AlafsTer?) | ClinVar dbSNP |
| 12 | g.47977627A= | CA3191705034 | COL2A1 | c.2931T= (p.Pro977=) c.3138T= (p.Pro1046=) n.2224T= c.3282T= (p.Pro1094=) c.3279T= (p.Pro1093=) c.2226T= (p.Pro742=) c.3072T= (p.Pro1024=) c.2592T= (p.Pro864=) | dbSNP |