| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.51350385C>T | CA126842 | ETFB | c.382G>A (p.Asp128Asn) c.655G>A (p.Asp219Asn) n.405G>A c.223G>A (p.Asp75Asn) c.*308G>A (n.*308G>A) c.271G>A (p.Asp91Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.51350385C>A | CA407082001 | ETFB | c.382G>T (p.Asp128Tyr) c.655G>T (p.Asp219Tyr) n.405G>T c.223G>T (p.Asp75Tyr) c.*308G>T (n.*308G>T) c.271G>T (p.Asp91Tyr) | dbSNP gnomAD v4 |
| 19 | g.51350385C= | CA2341344292 | ETFB | c.382G= (p.Asp128=) c.655G= (p.Asp219=) n.405G= c.223G= (p.Asp75=) c.*308G= (n.*308G=) c.271G= (p.Asp91=) | dbSNP |