| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033550G>T | CA405328643 | SCN1B | c.259G>T (p.Glu87Ter) c.160G>T (p.Glu54Ter) c.208-162G>T (n.208-162G>T) n.268G>T | dbSNP |
| 19 | g.35033550G>C | CA120244 | SCN1B | c.259G>C (p.Glu87Gln) c.160G>C (p.Glu54Gln) c.208-162G>C (n.208-162G>C) n.268G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.35033550G>A | CA9371997 | SCN1B | c.259G>A (p.Glu87Lys) c.160G>A (p.Glu54Lys) c.208-162G>A (n.208-162G>A) n.268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35033550G= | CA2333466992 | SCN1B | c.259G= (p.Glu87=) c.160G= (p.Glu54=) c.208-162G= (n.208-162G=) n.268G= | dbSNP |