| 6 | g.116120324A>G | CA365386845 | COL10A1,NT5DC1 | c.529+2379A>G (n.529+2379A>G)
c.1792T>C (p.Tyr598His)
c.27+2379A>G
| dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.116120324A>C | CA127210 | COL10A1,NT5DC1 | c.529+2379A>C (n.529+2379A>C)
c.1792T>G (p.Tyr598Asp)
c.27+2379A>C
| ClinVar dbSNP |
