| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.42369287C>G | CA4732570 | POLB | c.725C>G (p.Pro242Arg) c.156-2276C>G c.298C>G c.830C>G (p.Pro277Arg) c.*529C>G (n.*529C>G) c.429C>G c.-119C>G (n.-119C>G) c.*250C>G (n.*250C>G) c.465C>G (n.465C>G) c.743C>G (p.Pro248Arg) c.638C>G (p.Pro213Arg) c.383C>G (p.Pro128Arg) c.263C>G (p.Pro88Arg) n.966C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.42369287C= | CA1779398775 | POLB | c.725C= (p.Pro242=) c.156-2276C= c.298C= c.830C= (p.Pro277=) c.*529C= (n.*529C=) c.429C= c.-119C= (n.-119C=) c.*250C= (n.*250C=) c.465C= (n.465C=) c.743C= (p.Pro248=) c.638C= (p.Pro213=) c.383C= (p.Pro128=) c.263C= (p.Pro88=) n.966C= | dbSNP |