| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38556461A>G | CA16604466 | SCN5A | c.4414T>C (p.Phe1472Leu) c.4417T>C (p.Phe1473Leu) c.4363T>C (p.Phe1455Leu) c.4255T>C (p.Phe1419Leu) c.4288T>C (p.Phe1430Leu) c.4360T>C (p.Phe1454Leu) | ClinVar dbSNP |
| 3 | g.38556461A= | CA1358563426 | SCN5A | c.4414T= (p.Phe1472=) c.4417T= (p.Phe1473=) c.4363T= (p.Phe1455=) c.4255T= (p.Phe1419=) c.4288T= (p.Phe1430=) c.4360T= (p.Phe1454=) | dbSNP |
| 3 | g.38556461A>T | CA352145255 | SCN5A | c.4414T>A (p.Phe1472Ile) c.4417T>A (p.Phe1473Ile) c.4363T>A (p.Phe1455Ile) c.4255T>A (p.Phe1419Ile) c.4288T>A (p.Phe1430Ile) c.4360T>A (p.Phe1454Ile) | ClinVar dbSNP |