Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136200700T>A | CA250575 | LHX3 | c.148A>T (p.Lys50Ter) c.133A>T (p.Lys45Ter) n.257A>T c.100A>T (p.Lys34Ter) c.61A>T (p.Lys21Ter) | ClinVar dbSNP |
9 | g.136200700T= | CA1884109788 | LHX3 | c.148A= (p.Lys50=) c.133A= (p.Lys45=) n.257A= c.100A= (p.Lys34=) c.61A= (p.Lys21=) | dbSNP |
9 | g.136200700T>C | CA375520611 | LHX3 | c.148A>G (p.Lys50Glu) c.133A>G (p.Lys45Glu) n.257A>G c.100A>G (p.Lys34Glu) c.61A>G (p.Lys21Glu) | dbSNP gnomAD v4 COSMIC |