| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
| 3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |
| 3 | g.38894945G>A | CA352175177 | SCN11A | c.2423C>T (p.Ala808Val) c.2243C>T (p.Ala748Val) c.2467C>T (n.2467C>T) c.2042C>T (p.Ala681Val) c.1760C>T (p.Ala587Val) c.971C>T (p.Ala324Val) c.2798C>T (p.Ala933Val) c.2225C>T (p.Ala742Val) c.2150C>T (p.Ala717Val) c.827C>T (p.Ala276Val) | dbSNP gnomAD v4 |
| 3 | g.38894945G= | CA1358718304 | SCN11A | c.2423C= (p.Ala808=) c.2243C= (p.Ala748=) c.2467C= (n.2467C=) c.2042C= (p.Ala681=) c.1760C= (p.Ala587=) c.971C= (p.Ala324=) c.2798C= (p.Ala933=) c.2225C= (p.Ala742=) c.2150C= (p.Ala717=) c.827C= (p.Ala276=) | dbSNP |