Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.611919C>T | CA1947177944 | PHRF1 | c.*142C>T (n.*142C>T) c.*441C>T (n.*441C>T) | dbSNP gnomAD v4 |
11 | g.611919C>G | CA13405330 | PHRF1 | c.*142C>G (n.*142C>G) c.*441C>G (n.*441C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |