| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44376782C>T | CA138407071 | POLR1C,SPATS1 | c.875-253C>T (n.875-253C>T) c.1591-253C>T c.*753-253C>T (n.*753-253C>T) c.946-65108C>T (n.946-65108C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44376782C= | CA1624955252 | POLR1C,SPATS1 | c.875-253C= (n.875-253C=) c.1591-253C= c.*753-253C= (n.*753-253C=) c.946-65108C= (n.946-65108C=) | dbSNP |