| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.77090433T>C | CA120421 | KCNMA1 | c.925A>G c.693A>G c.1301A>G (p.Asp434Gly) c.1106A>G (p.Asp369Gly) c.1222A>G c.1112A>G (p.Asp371Gly) c.884A>G (p.Asp295Gly) c.704A>G (p.Asp235Gly) c.994A>G c.923A>G (p.Asp308Gly) c.1372A>G (n.1372A>G) c.1433A>G (p.Asp478Gly) c.-218A>G (n.-218A>G) n.813A>G c.717A>G (n.717A>G) c.1257A>G n.465A>G n.925A>G c.1153A>G c.1227A>G c.1209A>G (p.Gly403=) c.460A>G c.658A>G n.1438A>G c.*124A>G (n.*124A>G) c.1121A>G (p.Asp374Gly) c.1198A>G (n.1198A>G) c.921A>G c.1038A>G (n.1038A>G) n.903A>G c.944A>G (p.Asp315Gly) c.-214A>G (n.-214A>G) c.1139A>G (p.Asp380Gly) c.797A>G (p.Asp266Gly) c.1221A>G c.336A>G c.1223A>G (p.Asp408Gly) c.761A>G (p.Asp254Gly) c.647A>G (p.Asp216Gly) c.827A>G (p.Asp276Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.77090433T= | CA1921223203 | KCNMA1 | c.925A= c.693A= c.1301A= (p.Asp434=) c.1106A= (p.Asp369=) c.1222A= c.1112A= (p.Asp371=) c.884A= (p.Asp295=) c.704A= (p.Asp235=) c.994A= c.923A= (p.Asp308=) c.1372A= (n.1372A=) c.1433A= (p.Asp478=) c.-218A= (n.-218A=) n.813A= c.717A= (n.717A=) c.1257A= n.465A= n.925A= c.1153A= c.1227A= c.1209A= (p.Gly403=) c.460A= c.658A= n.1438A= c.*124A= (n.*124A=) c.1121A= (p.Asp374=) c.1198A= (n.1198A=) c.921A= c.1038A= (n.1038A=) n.903A= c.944A= (p.Asp315=) c.-214A= (n.-214A=) c.1139A= (p.Asp380=) c.797A= (p.Asp266=) c.1221A= c.336A= c.1223A= (p.Asp408=) c.761A= (p.Asp254=) c.647A= (p.Asp216=) c.827A= (p.Asp276=) | dbSNP |