| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63413472G>A | CA315486 | KCNQ2 | c.1687C>T (p.Arg563Ter) c.1741C>T (p.Arg581Ter) c.1138C>T (p.Arg380Ter) c.1648C>T (p.Arg550Ter) c.1309C>T (p.Arg437Ter) c.1657C>T (p.Arg553Ter) c.1621C>T (p.Arg541Ter) c.349C>T (p.Arg117Ter) c.1738C>T (p.Arg580Ter) c.1711C>T (p.Arg571Ter) c.1615C>T (p.Arg539Ter) c.1222C>T (p.Arg408Ter) c.1684C>T (p.Arg562Ter) c.1618C>T (p.Arg540Ter) c.649C>T (p.Arg217Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63413472G>C | CA10588704 | KCNQ2 | c.1687C>G (p.Arg563Gly) c.1741C>G (p.Arg581Gly) c.1138C>G (p.Arg380Gly) c.1648C>G (p.Arg550Gly) c.1309C>G (p.Arg437Gly) c.1657C>G (p.Arg553Gly) c.1621C>G (p.Arg541Gly) c.349C>G (p.Arg117Gly) c.1738C>G (p.Arg580Gly) c.1711C>G (p.Arg571Gly) c.1615C>G (p.Arg539Gly) c.1222C>G (p.Arg408Gly) c.1684C>G (p.Arg562Gly) c.1618C>G (p.Arg540Gly) c.649C>G (p.Arg217Gly) | ClinVar dbSNP |
| 20 | g.63413472G= | CA2374777950 | KCNQ2 | c.1687C= (p.Arg563=) c.1741C= (p.Arg581=) c.1138C= (p.Arg380=) c.1648C= (p.Arg550=) c.1309C= (p.Arg437=) c.1657C= (p.Arg553=) c.1621C= (p.Arg541=) c.349C= (p.Arg117=) c.1738C= (p.Arg580=) c.1711C= (p.Arg571=) c.1615C= (p.Arg539=) c.1222C= (p.Arg408=) c.1684C= (p.Arg562=) c.1618C= (p.Arg540=) c.649C= (p.Arg217=) | dbSNP |