| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.126693589C>T | CA5242430 | LMX1B | c.807C>T (p.Asn269=) c.738C>T (p.Asn246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.126693589C>A | CA254041 | LMX1B | c.807C>A (p.Asn269Lys) c.738C>A (p.Asn246Lys) | ClinVar dbSNP |
| 9 | g.126693589C= | CA1879479015 | LMX1B | c.807C= (p.Asn269=) c.738C= (p.Asn246=) | dbSNP |