6 | g.116125440C>G | CA365398547 | COL10A1,NT5DC1 | c.529+7495C>G (n.529+7495C>G) c.53G>C (p.Gly18Ala) c.27+7495C>G
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.116125440C>T | CA127219 | COL10A1,NT5DC1 | c.529+7495C>T (n.529+7495C>T) c.53G>A (p.Gly18Glu) c.27+7495C>T
| ClinVar dbSNP |