| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.7089608C>A | CA383726612 | C1R,C1RL | c.550G>T (p.Glu184Ter) n.522G>T c.448G>T (p.Glu150Ter) c.592G>T (p.Glu198Ter) c.1017G>T n.1309G>T c.235G>T (p.Glu79Ter) c.*202G>T (n.*202G>T) | dbSNP |
| 12 | g.7089608C>G | CA232468254 | C1R,C1RL | c.550G>C (p.Glu184Gln) n.522G>C c.448G>C (p.Glu150Gln) c.592G>C (p.Glu198Gln) c.1017G>C n.1309G>C c.235G>C (p.Glu79Gln) c.*202G>C (n.*202G>C) | dbSNP COSMIC |
| 12 | g.7089608C>T | CA6424207 | C1R,C1RL | c.550G>A (p.Glu184Lys) n.522G>A c.448G>A (p.Glu150Lys) c.592G>A (p.Glu198Lys) c.1017G>A n.1309G>A c.235G>A (p.Glu79Lys) c.*202G>A (n.*202G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |