| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150952574T>C | CA004572 | KCNH2 | n.706A>G n.301A>G n.2241A>G c.1408A>G (p.Asn470Asp) c.388A>G (p.Asn130Asp) c.1060A>G (p.Asn354Asp) n.695A>G n.713A>G n.1631A>G c.1108A>G (p.Asn370Asp) c.1258A>G (p.Asn420Asp) c.1231A>G (p.Asn411Asp) | ClinVar dbSNP |
| 7 | g.150952574T= | CA1752411799 | KCNH2 | n.706A= n.301A= n.2241A= c.1408A= (p.Asn470=) c.388A= (p.Asn130=) c.1060A= (p.Asn354=) n.695A= n.713A= n.1631A= c.1108A= (p.Asn370=) c.1258A= (p.Asn420=) c.1231A= (p.Asn411=) | dbSNP |
| 7 | g.150952574T>A | CA369859814 | KCNH2 | n.706A>T n.301A>T n.2241A>T c.1408A>T (p.Asn470Tyr) c.388A>T (p.Asn130Tyr) c.1060A>T (p.Asn354Tyr) n.695A>T n.713A>T n.1631A>T c.1108A>T (p.Asn370Tyr) c.1258A>T (p.Asn420Tyr) c.1231A>T (p.Asn411Tyr) | dbSNP |