| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53213275G>A | CA254607 | CPT2 | c.1657G>A (p.Asp553Asn) c.1624G>A (p.Asp542Asn) c.*1643G>A (n.*1643G>A) c.*1304G>A (n.*1304G>A) c.1588G>A (p.Asp530Asn) c.1707G>A (p.Leu569=) c.352G>A (p.Asp118Asn) c.1693G>A (p.Asp565Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53213275G= | CA1140495625 | CPT2 | c.1657G= (p.Asp553=) c.1624G= (p.Asp542=) c.*1643G= (n.*1643G=) c.*1304G= (n.*1304G=) c.1588G= (p.Asp530=) c.1707G= (p.Leu569=) c.352G= (p.Asp118=) c.1693G= (p.Asp565=) | dbSNP |