| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165991924A>G | CA16043651 | SCN1A | c.*3387T>C (n.*3387T>C) c.5351T>C (p.Val1784Ala) c.5318T>C (p.Val1773Ala) c.*2184T>C (n.*2184T>C) c.*2844T>C (n.*2844T>C) c.2213T>C c.5315T>C (p.Val1772Ala) c.5069T>C (p.Val1690Ala) c.*4905T>C (n.*4905T>C) c.*3294T>C (n.*3294T>C) n.7824T>C c.5267T>C (p.Val1756Ala) n.176-23689A>G c.5348T>C (p.Val1783Ala) c.5264T>C (p.Val1755Ala) c.2909T>C (p.Val970Ala) n.5787T>C n.5801T>C n.5773T>C n.5768T>C | ClinVar dbSNP |
| 2 | g.165991924A>T | CA349068040 | SCN1A | c.*3387T>A (n.*3387T>A) c.5351T>A (p.Val1784Asp) c.5318T>A (p.Val1773Asp) c.*2184T>A (n.*2184T>A) c.*2844T>A (n.*2844T>A) c.2213T>A c.5315T>A (p.Val1772Asp) c.5069T>A (p.Val1690Asp) c.*4905T>A (n.*4905T>A) c.*3294T>A (n.*3294T>A) n.7824T>A c.5267T>A (p.Val1756Asp) n.176-23689A>T c.5348T>A (p.Val1783Asp) c.5264T>A (p.Val1755Asp) c.2909T>A (p.Val970Asp) n.5787T>A n.5801T>A n.5773T>A n.5768T>A | ClinVar dbSNP |