Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.126693527C>T | CA254062 | LMX1B | c.745C>T (p.Arg249Ter) c.676C>T (p.Arg226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.126693527C>G | CA374913769 | LMX1B | c.745C>G (p.Arg249Gly) c.676C>G (p.Arg226Gly) | ClinVar dbSNP |
9 | g.126693527C>A | CA467136669 | LMX1B | c.745C>A (p.Arg249=) c.676C>A (p.Arg226=) | ClinVar dbSNP gnomAD v4 |