| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.63350940T>A | CA402630947 | KDSR | c.557A>T (p.Tyr186Phe) c.*496A>T (n.*496A>T) c.*707A>T (n.*707A>T) c.417+4264A>T (n.417+4264A>T) n.251A>T c.272A>T (p.Tyr91Phe) c.470A>T (p.Tyr157Phe) c.326A>T (p.Tyr109Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.63350940T= | CA2308732898 | KDSR | c.557A= (p.Tyr186=) c.*496A= (n.*496A=) c.*707A= (n.*707A=) c.417+4264A= (n.417+4264A=) n.251A= c.272A= (p.Tyr91=) c.470A= (p.Tyr157=) c.326A= (p.Tyr109=) | dbSNP |