| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786040C>G | CA404884573 | COMP | c.1414G>C (p.Asp472His) c.1255G>C (p.Asp419His) c.1315G>C (p.Asp439His) | ClinVar dbSNP |
| 19 | g.18786040C>A | CA254700 | COMP | c.1414G>T (p.Asp472Tyr) c.1255G>T (p.Asp419Tyr) c.1315G>T (p.Asp439Tyr) | ClinVar dbSNP |
| 19 | g.18786040C= | CA2326525540 | COMP | c.1414G= (p.Asp472=) c.1255G= (p.Asp419=) c.1315G= (p.Asp439=) | dbSNP |