| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38903990C>T | CA16617961 | SCN11A | c.1717G>A (p.Val573Met) c.1537G>A (p.Val513Met) c.1761G>A (n.1761G>A) c.1054G>A (p.Val352Met) c.265G>A (p.Val89Met) c.2092G>A (p.Val698Met) c.1519G>A (p.Val507Met) c.1444G>A (p.Val482Met) c.121G>A (p.Val41Met) | ClinVar dbSNP |
| 3 | g.38903990C= | CA1358721511 | SCN11A | c.1717G= (p.Val573=) c.1537G= (p.Val513=) c.1761G= (n.1761G=) c.1054G= (p.Val352=) c.265G= (p.Val89=) c.2092G= (p.Val698=) c.1519G= (p.Val507=) c.1444G= (p.Val482=) c.121G= (p.Val41=) | dbSNP |