| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18786051C>G | CA404884657 | COMP | c.1403G>C (p.Cys468Ser) c.1244G>C (p.Cys415Ser) c.1304G>C (p.Cys435Ser) | ClinVar dbSNP |
| 19 | g.18786051C>A | CA404884655 | COMP | c.1403G>T (p.Cys468Phe) c.1244G>T (p.Cys415Phe) c.1304G>T (p.Cys435Phe) | ClinVar dbSNP |
| 19 | g.18786051C>T | CA254701 | COMP | c.1403G>A (p.Cys468Tyr) c.1244G>A (p.Cys415Tyr) c.1304G>A (p.Cys435Tyr) | ClinVar dbSNP |