| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47993825C>T | CA127160 | COL2A1 | c.701G>A (p.Gly234Asp) c.908G>A (p.Gly303Asp) c.1052G>A (p.Gly351Asp) c.1049G>A (p.Gly350Asp) c.842G>A (p.Gly281Asp) c.362G>A (p.Gly121Asp) | ClinVar dbSNP |
| 12 | g.47993825C= | CA2034477557 | COL2A1 | c.701G= (p.Gly234=) c.908G= (p.Gly303=) c.1052G= (p.Gly351=) c.1049G= (p.Gly350=) c.842G= (p.Gly281=) c.362G= (p.Gly121=) | dbSNP |
| 12 | g.47993825C>G | CA384521885 | COL2A1 | c.701G>C (p.Gly234Ala) c.908G>C (p.Gly303Ala) c.1052G>C (p.Gly351Ala) c.1049G>C (p.Gly350Ala) c.842G>C (p.Gly281Ala) c.362G>C (p.Gly121Ala) | dbSNP |
| 12 | g.47993825C>A | CA384521884 | COL2A1 | c.701G>T (p.Gly234Val) c.908G>T (p.Gly303Val) c.1052G>T (p.Gly351Val) c.1049G>T (p.Gly350Val) c.842G>T (p.Gly281Val) c.362G>T (p.Gly121Val) | ClinVar dbSNP |