| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132141191T>C | CA239258 | KCNQ3 | c.1403A>G (p.Asn468Ser) c.1043A>G (p.Asn348Ser) c.1076A>G (p.Asn359Ser) c.*27A>G (n.*27A>G) n.1181A>G c.1040A>G (p.Asn347Ser) c.158A>G (p.Asn53Ser) c.695A>G (p.Asn232Ser) c.1181A>G (p.Asn394Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132141191T>A | CA372219927 | KCNQ3 | c.1403A>T (p.Asn468Ile) c.1043A>T (p.Asn348Ile) c.1076A>T (p.Asn359Ile) c.*27A>T (n.*27A>T) n.1181A>T c.1040A>T (p.Asn347Ile) c.158A>T (p.Asn53Ile) c.695A>T (p.Asn232Ile) c.1181A>T (p.Asn394Ile) | dbSNP |
| 8 | g.132141191T= | CA1820633230 | KCNQ3 | c.1403A= (p.Asn468=) c.1043A= (p.Asn348=) c.1076A= (p.Asn359=) c.*27A= (n.*27A=) n.1181A= c.1040A= (p.Asn347=) c.158A= (p.Asn53=) c.695A= (p.Asn232=) c.1181A= (p.Asn394=) | dbSNP |