| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166204439G>A | CA118155 | SCN1A-AS1,SCN9A | c.4424C>T (p.Thr1475Ile) c.4268C>T (p.Thr1423Ile) c.4391C>T (p.Thr1464Ile) n.801C>T n.611+4621G>A c.4037C>T (p.Thr1346Ile) c.3680C>T (p.Thr1227Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166204439G>C | CA349058384 | SCN1A-AS1,SCN9A | c.4424C>G (p.Thr1475Arg) c.4268C>G (p.Thr1423Arg) c.4391C>G (p.Thr1464Arg) n.801C>G n.611+4621G>C c.4037C>G (p.Thr1346Arg) c.3680C>G (p.Thr1227Arg) | dbSNP gnomAD v4 |
| 2 | g.166204439G= | CA1304932162 | SCN1A-AS1,SCN9A | c.4424C= (p.Thr1475=) c.4268C= (p.Thr1423=) c.4391C= (p.Thr1464=) n.801C= n.611+4621G= c.4037C= (p.Thr1346=) c.3680C= (p.Thr1227=) | dbSNP |