| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555679_38555687del | CA018388 | SCN5A | c.4516_4524del (p.Gln1506_Pro1508del) c.4519_4527del (p.Gln1507_Pro1509del) c.4465_4473del (p.Gln1489_Pro1491del) c.4357_4365del (p.Gln1453_Pro1455del) c.4390_4398del (p.Gln1464_Pro1466del) c.4462_4470del (p.Gln1488_Pro1490del) | ClinVar dbSNP |
| 3 | g.38555679_38555687dup | CA2586965705 | SCN5A | c.4516_4524dup (p.Pro1508_Ile1509insGlnLysPro) c.4519_4527dup (p.Pro1509_Ile1510insGlnLysPro) c.4465_4473dup (p.Pro1491_Ile1492insGlnLysPro) c.4357_4365dup (p.Pro1455_Ile1456insGlnLysPro) c.4390_4398dup (p.Pro1466_Ile1467insGlnLysPro) c.4462_4470dup (p.Pro1490_Ile1491insGlnLysPro) | ClinVar dbSNP |