Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947453G>C | CA16605072 | KCNH2 | n.3860C>G c.3027C>G (p.Tyr1009Ter) c.2007C>G (p.Tyr669Ter) c.2727C>G (p.Tyr909Ter) c.*107C>G (n.*107C>G) c.2877C>G (p.Tyr959Ter) c.2850C>G (p.Tyr950Ter) | ClinVar dbSNP |
7 | g.150947453G= | CA1752429336 | KCNH2 | n.3860C= c.3027C= (p.Tyr1009=) c.2007C= (p.Tyr669=) c.2727C= (p.Tyr909=) c.*107C= (n.*107C=) c.2877C= (p.Tyr959=) c.2850C= (p.Tyr950=) | dbSNP |