| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358959G>A | CA121219 | PDHA1 | c.964G>A (p.Asp322Asn) c.*635G>A (n.*635G>A) c.1027G>A (p.Asp343Asn) c.1057G>A (p.Asp353Asn) n.738G>A c.*275G>A (n.*275G>A) c.*398G>A (n.*398G>A) c.943G>A (p.Asp315Asn) c.100G>A (p.Asp34Asn) n.382G>A n.371G>A c.850G>A (p.Asp284Asn) c.1078G>A (p.Asp360Asn) c.985G>A (p.Asp329Asn) | ClinVar dbSNP |
| X | g.19358959G= | CA2418225236 | PDHA1 | c.964G= (p.Asp322=) c.*635G= (n.*635G=) c.1027G= (p.Asp343=) c.1057G= (p.Asp353=) n.738G= c.*275G= (n.*275G=) c.*398G= (n.*398G=) c.943G= (p.Asp315=) c.100G= (p.Asp34=) n.382G= n.371G= c.850G= (p.Asp284=) c.1078G= (p.Asp360=) c.985G= (p.Asp329=) | dbSNP |