| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166198763T>G | CA16610170 | SCN1A-AS1,SCN9A | c.5876A>C (p.Asp1959Ala) c.5720A>C (p.Asp1907Ala) c.5843A>C (p.Asp1948Ala) n.2253A>C n.432-876T>G c.5489A>C (p.Asp1830Ala) c.5132A>C (p.Asp1711Ala) | ClinVar dbSNP |
| 2 | g.166198763T>C | CA349051271 | SCN1A-AS1,SCN9A | c.5876A>G (p.Asp1959Gly) c.5720A>G (p.Asp1907Gly) c.5843A>G (p.Asp1948Gly) n.2253A>G n.432-876T>C c.5489A>G (p.Asp1830Gly) c.5132A>G (p.Asp1711Gly) | dbSNP gnomAD v4 |
| 2 | g.166198763T= | CA1304929122 | SCN1A-AS1,SCN9A | c.5876A= (p.Asp1959=) c.5720A= (p.Asp1907=) c.5843A= (p.Asp1948=) n.2253A= n.432-876T= c.5489A= (p.Asp1830=) c.5132A= (p.Asp1711=) | dbSNP |