| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166204222T>A | CA10577240 | SCN1A-AS1,SCN9A | c.4507A>T (p.Lys1503Ter) c.4351A>T (p.Lys1451Ter) c.4474A>T (p.Lys1492Ter) n.884A>T n.611+4404T>A c.4503+138A>T (n.4503+138A>T) c.4120A>T (p.Lys1374Ter) c.3763A>T (p.Lys1255Ter) | ClinVar dbSNP |
| 2 | g.166204222T= | CA1304932049 | SCN1A-AS1,SCN9A | c.4507A= (p.Lys1503=) c.4351A= (p.Lys1451=) c.4474A= (p.Lys1492=) n.884A= n.611+4404T= c.4503+138A= (n.4503+138A=) c.4120A= (p.Lys1374=) c.3763A= (p.Lys1255=) | dbSNP |
| 2 | g.166204222T>C | CA349058098 | SCN1A-AS1,SCN9A | c.4507A>G (p.Lys1503Glu) c.4351A>G (p.Lys1451Glu) c.4474A>G (p.Lys1492Glu) n.884A>G n.611+4404T>C c.4503+138A>G (n.4503+138A>G) c.4120A>G (p.Lys1374Glu) c.3763A>G (p.Lys1255Glu) | dbSNP gnomAD v4 |