| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48474923C>T | CA2090020337 | RB1 | c.2520+1533C>T (n.2520+1533C>T) c.194+93480C>T c.2259+1533C>T (n.2259+1533C>T) | dbSNP |
| 13 | g.48474923C>G | CA249313455 | RB1 | c.2520+1533C>G (n.2520+1533C>G) c.194+93480C>G c.2259+1533C>G (n.2259+1533C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48474923C= | CA2090020336 | RB1 | c.2520+1533C= (n.2520+1533C=) c.194+93480C= c.2259+1533C= (n.2259+1533C=) | dbSNP |