Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.126693250G>A | CA254059 | LMX1B | c.668G>A (p.Arg223Gln) c.599G>A (p.Arg200Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.126693250G= | CA1879478538 | LMX1B | c.668G= (p.Arg223=) c.599G= (p.Arg200=) | dbSNP |
9 | g.126693250G>C | CA374913461 | LMX1B | c.668G>C (p.Arg223Pro) c.599G>C (p.Arg200Pro) | ClinVar dbSNP |