| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150951711G>A | CA005035 | KCNH2 | n.980C>T n.2515C>T c.1682C>T (p.Ala561Val) c.662C>T (p.Ala221Val) c.1334C>T (p.Ala445Val) n.969C>T n.987C>T n.1905C>T c.1382C>T (p.Ala461Val) c.1532C>T (p.Ala511Val) c.1505C>T (p.Ala502Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150951711G>C | CA369858805 | KCNH2 | n.980C>G n.2515C>G c.1682C>G (p.Ala561Gly) c.662C>G (p.Ala221Gly) c.1334C>G (p.Ala445Gly) n.969C>G n.987C>G n.1905C>G c.1382C>G (p.Ala461Gly) c.1532C>G (p.Ala511Gly) c.1505C>G (p.Ala502Gly) | dbSNP |
| 7 | g.150951711G= | CA1752410468 | KCNH2 | n.980C= n.2515C= c.1682C= (p.Ala561=) c.662C= (p.Ala221=) c.1334C= (p.Ala445=) n.969C= n.987C= n.1905C= c.1382C= (p.Ala461=) c.1532C= (p.Ala511=) c.1505C= (p.Ala502=) | dbSNP |