| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786043C>A | CA306255334 | COMP | c.1411G>T (p.Asp471Tyr) c.1252G>T (p.Asp418Tyr) c.1312G>T (p.Asp438Tyr) | dbSNP |
| 19 | g.18786043C= | CA2326525542 | COMP | c.1411G= (p.Asp471=) c.1252G= (p.Asp418=) c.1312G= (p.Asp438=) | dbSNP |
| 19 | g.18786043C>G | CA404884598 | COMP | c.1411G>C (p.Asp471His) c.1252G>C (p.Asp418His) c.1312G>C (p.Asp438His) | ClinVar dbSNP |