Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42339328G>A | CA357942 | STAT3 | c.454C>T (p.Arg152Trp) n.654C>T n.641C>T n.622C>T n.673C>T c.373-516C>T (n.373-516C>T) n.653C>T n.479C>T c.160C>T (p.Arg54Trp) c.376C>T (p.Arg126Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42339328G>C | CA399594984 | STAT3 | c.454C>G (p.Arg152Gly) n.654C>G n.641C>G n.622C>G n.673C>G c.373-516C>G (n.373-516C>G) n.653C>G n.479C>G c.160C>G (p.Arg54Gly) c.376C>G (p.Arg126Gly) | dbSNP |