| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150974725A= | CA1752461852 | KCNH2 | c.293T= (p.Phe98=) c.116T= (p.Phe39=) n.516T= | |
| 7 | g.150974725A>C | CA369865315 | KCNH2 | c.293T>G (p.Phe98Cys) c.116T>G (p.Phe39Cys) n.516T>G | ClinVar dbSNP |
| 7 | g.150974725A>G | CA369865317 | KCNH2 | c.293T>C (p.Phe98Ser) c.116T>C (p.Phe39Ser) n.516T>C | |
| 7 | g.150974725A>T | CA369865318 | KCNH2 | c.293T>A (p.Phe98Tyr) c.116T>A (p.Phe39Tyr) n.516T>A | |
| 7 | g.150974725_150974726delinsGC | CA2697549693 | KCNH2 | c.292_293delinsGC (p.Phe98Ala) c.115_116delinsGC (p.Phe39Ala) n.515_516delinsGC | ClinVar |
| 7 | g.150974726A>C | CA369865322 | KCNH2 | c.292T>G (p.Phe98Val) c.115T>G (p.Phe39Val) n.515T>G | |
| 7 | g.150974726A>G | CA070366 | KCNH2 | c.292T>C (p.Phe98Leu) c.115T>C (p.Phe39Leu) n.515T>C | |
| 7 | g.150974726A>T | CA369865319 | KCNH2 | c.292T>A (p.Phe98Ile) c.115T>A (p.Phe39Ile) n.515T>A | |
| 7 | g.150974727G>A | CA458871722 | KCNH2 | c.291C>T (p.Ala97=) c.114C>T (p.Ala38=) n.514C>T | gnomAD v4 |
| 7 | g.150974727G>C | CA458871720 | KCNH2 | c.291C>G (p.Ala97=) c.114C>G (p.Ala38=) n.514C>G | |
| 7 | g.150974727G>T | CA458871721 | KCNH2 | c.291C>A (p.Ala97=) c.114C>A (p.Ala38=) n.514C>A | |
| 7 | g.150974728G>A | CA369865324 | KCNH2 | c.290C>T (p.Ala97Val) c.113C>T (p.Ala38Val) n.513C>T | gnomAD v4 |
| 7 | g.150974728G>C | CA007636 | KCNH2 | c.290C>G (p.Ala97Gly) c.113C>G (p.Ala38Gly) n.513C>G | ClinVar dbSNP |
| 7 | g.150974728G= | CA1752461855 | KCNH2 | c.290C= (p.Ala97=) c.113C= (p.Ala38=) n.513C= | |
| 7 | g.150974728G>T | CA369865327 | KCNH2 | c.290C>A (p.Ala97Asp) c.113C>A (p.Ala38Asp) n.513C>A | gnomAD v4 |
| 7 | g.150974729C>A | CA169090254 | KCNH2 | c.289G>T (p.Ala97Ser) c.112G>T (p.Ala38Ser) n.512G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974729C= | CA1752461859 | KCNH2 | c.289G= (p.Ala97=) c.112G= (p.Ala38=) n.512G= | |
| 7 | g.150974729C>G | CA369865329 | KCNH2 | c.289G>C (p.Ala97Pro) c.112G>C (p.Ala38Pro) n.512G>C | |
| 7 | g.150974729C>T | CA369865331 | KCNH2 | c.289G>A (p.Ala97Thr) c.112G>A (p.Ala38Thr) n.512G>A | gnomAD v4 |
| 7 | g.150974730G>A | CA458871723 | KCNH2 | c.288C>T (p.Ile96=) c.111C>T (p.Ile37=) n.511C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974730G>C | CA369865333 | KCNH2 | c.288C>G (p.Ile96Met) c.111C>G (p.Ile37Met) n.511C>G | |
| 7 | g.150974730G>T | CA458871724 | KCNH2 | c.288C>A (p.Ile96=) c.111C>A (p.Ile37=) n.511C>A | ClinVar dbSNP |
| 7 | g.150974731A= | CA1752461862 | KCNH2 | c.287T= (p.Ile96=) c.110T= (p.Ile37=) n.510T= | |
| 7 | g.150974731A>C | CA369865335 | KCNH2 | c.287T>G (p.Ile96Ser) c.110T>G (p.Ile37Ser) n.510T>G | |
| 7 | g.150974731A>G | CA007567 | KCNH2 | c.287T>C (p.Ile96Thr) c.110T>C (p.Ile37Thr) n.510T>C | ClinVar dbSNP |
| 7 | g.150974731A>T | CA369865337 | KCNH2 | c.287T>A (p.Ile96Asn) c.110T>A (p.Ile37Asn) n.510T>A | |
| 7 | g.150974732T>A | CA369865339 | KCNH2 | c.286A>T (p.Ile96Phe) c.109A>T (p.Ile37Phe) n.509A>T | |
| 7 | g.150974732T>C | CA007547 | KCNH2 | c.286A>G (p.Ile96Val) c.109A>G (p.Ile37Val) n.509A>G | ClinVar dbSNP |
| 7 | g.150974732T>G | CA369865341 | KCNH2 | c.286A>C (p.Ile96Leu) c.109A>C (p.Ile37Leu) n.509A>C | |
| 7 | g.150974732T= | CA1752461868 | KCNH2 | c.286A= (p.Ile96=) c.109A= (p.Ile37=) n.509A= | |
| 7 | g.150974733T>A | CA369865343 | KCNH2 | c.285A>T (p.Glu95Asp) c.108A>T (p.Glu36Asp) n.508A>T | |
| 7 | g.150974733T>C | CA458871725 | KCNH2 | c.285A>G (p.Glu95=) c.108A>G (p.Glu36=) n.508A>G | gnomAD v4 |
| 7 | g.150974733T>G | CA369865345 | KCNH2 | c.285A>C (p.Glu95Asp) c.108A>C (p.Glu36Asp) n.508A>C | |
| 7 | g.150974734T>A | CA369865346 | KCNH2 | c.284A>T (p.Glu95Val) c.107A>T (p.Glu36Val) n.507A>T | |
| 7 | g.150974734T>C | CA369865348 | KCNH2 | c.284A>G (p.Glu95Gly) c.107A>G (p.Glu36Gly) n.507A>G | gnomAD v4 |
| 7 | g.150974734T>G | CA007512 | KCNH2 | c.284A>C (p.Glu95Ala) c.107A>C (p.Glu36Ala) n.507A>C | ClinVar dbSNP |
| 7 | g.150974734T= | CA1752461875 | KCNH2 | c.284A= (p.Glu95=) c.107A= (p.Glu36=) n.507A= | |
| 7 | g.150974735C>A | CA369865351 | KCNH2 | c.283G>T (p.Glu95Ter) c.106G>T (p.Glu36Ter) n.506G>T | |
| 7 | g.150974735C= | CA1752461881 | KCNH2 | c.283G= (p.Glu95=) c.106G= (p.Glu36=) n.506G= | |
| 7 | g.150974735C>G | CA369865353 | KCNH2 | c.283G>C (p.Glu95Gln) c.106G>C (p.Glu36Gln) n.506G>C | |
| 7 | g.150974735C>T | CA035006 | KCNH2 | c.283G>A (p.Glu95Lys) c.106G>A (p.Glu36Lys) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150974736C>A | CA458871726 | KCNH2 | c.282G>T (p.Val94=) c.105G>T (p.Val35=) n.505G>T | |
| 7 | g.150974736C>G | CA458871727 | KCNH2 | c.282G>C (p.Val94=) c.105G>C (p.Val35=) n.505G>C | |
| 7 | g.150974736C>T | CA458871728 | KCNH2 | c.282G>A (p.Val94=) c.105G>A (p.Val35=) n.505G>A | |
| 7 | g.150974737del | CA2695208649 | KCNH2 | c.281del (p.Val94GlyfsTer22) c.104del (p.Val35GlyfsTer22) n.504del | |
| 7 | g.150974737A= | CA1752461883 | KCNH2 | c.281T= (p.Val94=) c.104T= (p.Val35=) n.504T= | |
| 7 | g.150974737A>C | CA007478 | KCNH2 | c.281T>G (p.Val94Gly) c.104T>G (p.Val35Gly) n.504T>G | ClinVar dbSNP |
| 7 | g.150974737A>G | CA369865356 | KCNH2 | c.281T>C (p.Val94Ala) c.104T>C (p.Val35Ala) n.504T>C | gnomAD v4 |
| 7 | g.150974737A>T | CA369865358 | KCNH2 | c.281T>A (p.Val94Glu) c.104T>A (p.Val35Glu) n.504T>A | |
| 7 | g.150974738C>A | CA369865360 | KCNH2 | c.280G>T (p.Val94Leu) c.103G>T (p.Val35Leu) n.503G>T |