| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38562485G>A | CA017599 | SCN5A | c.3890C>T (p.Pro1297Leu) c.3893C>T (p.Pro1298Leu) c.3731C>T (p.Pro1244Leu) c.3764C>T (p.Pro1255Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38562485G>C | CA352148187 | SCN5A | c.3890C>G (p.Pro1297Arg) c.3893C>G (p.Pro1298Arg) c.3731C>G (p.Pro1244Arg) c.3764C>G (p.Pro1255Arg) | dbSNP |
| 3 | g.38562485G= | CA1358566726 | SCN5A | c.3890C= (p.Pro1297=) c.3893C= (p.Pro1298=) c.3731C= (p.Pro1244=) c.3764C= (p.Pro1255=) | dbSNP |