| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033828G>A | CA120245 | SCN1B | c.537G>A (p.Trp179Ter) c.448+89G>A (n.448+89G>A) c.349+89G>A (n.349+89G>A) c.438G>A (p.Trp146Ter) c.235+89G>A (n.235+89G>A) n.457+89G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.35033828G= | CA2333467113 | SCN1B | c.537G= (p.Trp179=) c.448+89G= (n.448+89G=) c.349+89G= (n.349+89G=) c.438G= (p.Trp146=) c.235+89G= (n.235+89G=) n.457+89G= | dbSNP |
| 19 | g.35033828G>T | CA405329260 | SCN1B | c.537G>T (p.Trp179Cys) c.448+89G>T (n.448+89G>T) c.349+89G>T (n.349+89G>T) c.438G>T (p.Trp146Cys) c.235+89G>T (n.235+89G>T) n.457+89G>T | dbSNP |