| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.88854874C>T | CA7719845 | ACAN | c.2289C>T (p.Pro763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.88854874C= | CA2194364594 | ACAN | c.2289C= (p.Pro763=) | dbSNP |
| 15 | g.88854874C>A | CA492284514 | ACAN | c.2289C>A (p.Pro763=) | dbSNP gnomAD v4 |
| 15 | g.88854874C>G | CA492284515 | ACAN | c.2289C>G (p.Pro763=) | dbSNP |