| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15475447G>C | CA118391 | COLQ | c.506C>G (p.Ser169Ter) n.502C>G c.*268C>G (n.*268C>G) c.476C>G (p.Ser159Ter) c.404C>G (p.Ser135Ter) c.335C>G (p.Ser112Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15475447G= | CA1347591329 | COLQ | c.506C= (p.Ser169=) n.502C= c.*268C= (n.*268C=) c.476C= (p.Ser159=) c.404C= (p.Ser135=) c.335C= (p.Ser112=) | dbSNP |