Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37731814G>A | CA122601 | HNF1B | c.826C>T (p.Arg276Ter) c.748C>T (p.Arg250Ter) n.278C>T c.729C>T (p.Ser243=) | ClinVar dbSNP |
17 | g.37731814G>C | CA398747072 | HNF1B | c.826C>G (p.Arg276Gly) c.748C>G (p.Arg250Gly) n.278C>G c.729C>G (p.Ser243Arg) | ClinVar dbSNP |
17 | g.37731814G= | CA3223280488 | HNF1B | c.826C= (p.Arg276=) c.748C= (p.Arg250=) n.278C= c.729C= (p.Ser243=) | dbSNP |