| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277030T>G | CA147603 | SCN1A-AS1,SCN9A | c.2827A>C (p.Met943Leu) c.2794A>C (p.Met932Leu) c.484A>C (p.Met162Leu) c.1829A>C n.870-58T>G c.2440A>C (p.Met814Leu) c.2083A>C (p.Met695Leu) n.3141A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.166277030T>C | CA349077108 | SCN1A-AS1,SCN9A | c.2827A>G (p.Met943Val) c.2794A>G (p.Met932Val) c.484A>G (p.Met162Val) c.1829A>G n.870-58T>C c.2440A>G (p.Met814Val) c.2083A>G (p.Met695Val) n.3141A>G | dbSNP gnomAD v4 |
| 2 | g.166277030T= | CA1304964672 | SCN1A-AS1,SCN9A | c.2827A= (p.Met943=) c.2794A= (p.Met932=) c.484A= (p.Met162=) c.1829A= n.870-58T= c.2440A= (p.Met814=) c.2083A= (p.Met695=) n.3141A= | dbSNP |