| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387398dup | CA3003288902 | KCNJ11 | c.436dup (p.Leu146ProfsTer30) c.697dup (p.Leu233ProfsTer30) c.436dup (p.Leu146ProfsTer?) n.855dup | |
| 11 | g.17387398del | CA3003288905 | KCNJ11 | c.436del (p.Leu146SerfsTer23) c.697del (p.Leu233SerfsTer23) c.436del (p.Leu146SerfsTer?) n.855del | |
| 11 | g.17387398G>A | CA379771424 | KCNJ11 | c.433C>T (p.Pro145Ser) c.694C>T (p.Pro232Ser) n.852C>T | |
| 11 | g.17387398G>C | CA379771430 | KCNJ11 | c.433C>G (p.Pro145Ala) c.694C>G (p.Pro232Ala) n.852C>G | |
| 11 | g.17387398G>T | CA379771433 | KCNJ11 | c.433C>A (p.Pro145Thr) c.694C>A (p.Pro232Thr) n.852C>A | |
| 11 | g.17387399C>A | CA473515621 | KCNJ11 | c.432G>T (p.Val144=) c.693G>T (p.Val231=) n.851G>T | |
| 11 | g.17387399C>G | CA473515622 | KCNJ11 | c.432G>C (p.Val144=) c.693G>C (p.Val231=) n.851G>C | |
| 11 | g.17387399C>T | CA473515623 | KCNJ11 | c.432G>A (p.Val144=) c.693G>A (p.Val231=) n.851G>A | ClinVar |
| 11 | g.17387400A>C | CA379771437 | KCNJ11 | c.431T>G (p.Val144Gly) c.692T>G (p.Val231Gly) n.850T>G | |
| 11 | g.17387400A>G | CA379771440 | KCNJ11 | c.431T>C (p.Val144Ala) c.692T>C (p.Val231Ala) n.850T>C | |
| 11 | g.17387400A>T | CA379771443 | KCNJ11 | c.431T>A (p.Val144Glu) c.692T>A (p.Val231Glu) n.850T>A | |
| 11 | g.17387401C>A | CA379771447 | KCNJ11 | c.430G>T (p.Val144Leu) c.691G>T (p.Val231Leu) n.849G>T | |
| 11 | g.17387401C>G | CA379771449 | KCNJ11 | c.430G>C (p.Val144Leu) c.691G>C (p.Val231Leu) n.849G>C | |
| 11 | g.17387401C>T | CA379771451 | KCNJ11 | c.430G>A (p.Val144Met) c.691G>A (p.Val231Met) n.849G>A | |
| 11 | g.17387402del | CA3003288907 | KCNJ11 | c.430del (p.Val144CysfsTer25) c.691del (p.Val231CysfsTer25) c.430del (p.Val144CysfsTer?) n.849del | |
| 11 | g.17387402C>A | CA473515625 | KCNJ11 | c.429G>T (p.Val143=) c.690G>T (p.Val230=) n.848G>T | gnomAD v4 |
| 11 | g.17387402C= | CA1955119248 | KCNJ11 | c.429G= (p.Val143=) c.690G= (p.Val230=) n.848G= | |
| 11 | g.17387402C>G | CA473515626 | KCNJ11 | c.429G>C (p.Val143=) c.690G>C (p.Val230=) n.848G>C | |
| 11 | g.17387402C>T | CA5902262 | KCNJ11 | c.429G>A (p.Val143=) c.690G>A (p.Val230=) n.848G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387403A>C | CA379771459 | KCNJ11 | c.428T>G (p.Val143Gly) c.689T>G (p.Val230Gly) n.847T>G | |
| 11 | g.17387403A>G | CA379771471 | KCNJ11 | c.428T>C (p.Val143Ala) c.689T>C (p.Val230Ala) n.847T>C | |
| 11 | g.17387403A>T | CA379771462 | KCNJ11 | c.428T>A (p.Val143Glu) c.689T>A (p.Val230Glu) n.847T>A | |
| 11 | g.17387404C>A | CA379771475 | KCNJ11 | c.427G>T (p.Val143Leu) c.688G>T (p.Val230Leu) n.846G>T | |
| 11 | g.17387404C>G | CA379771477 | KCNJ11 | c.427G>C (p.Val143Leu) c.688G>C (p.Val230Leu) n.846G>C | |
| 11 | g.17387404C>T | CA379771478 | KCNJ11 | c.427G>A (p.Val143Met) c.688G>A (p.Val230Met) n.846G>A | |
| 11 | g.17387405C>A | CA379771480 | KCNJ11 | c.426G>T (p.Glu142Asp) c.687G>T (p.Glu229Asp) n.845G>T | |
| 11 | g.17387405C>G | CA379771481 | KCNJ11 | c.426G>C (p.Glu142Asp) c.687G>C (p.Glu229Asp) n.845G>C | |
| 11 | g.17387405C>T | CA473515630 | KCNJ11 | c.426G>A (p.Glu142=) c.687G>A (p.Glu229=) n.845G>A | gnomAD v4 |
| 11 | g.17387406_17387407del | CA2840305414 | KCNJ11 | c.425_426del (p.Glu142GlyfsTer?) c.686_687del (p.Glu229GlyfsTer?) n.844_845del | |
| 11 | g.17387406del | CA3003288909 | KCNJ11 | c.425del (p.Glu142GlyfsTer27) c.686del (p.Glu229GlyfsTer27) c.425del (p.Glu142GlyfsTer?) n.844del | |
| 11 | g.17387406T>A | CA379771485 | KCNJ11 | c.425A>T (p.Glu142Val) c.686A>T (p.Glu229Val) n.844A>T | |
| 11 | g.17387406T>C | CA379771488 | KCNJ11 | c.425A>G (p.Glu142Gly) c.686A>G (p.Glu229Gly) n.844A>G | |
| 11 | g.17387406T>G | CA379771489 | KCNJ11 | c.425A>C (p.Glu142Ala) c.686A>C (p.Glu229Ala) n.844A>C | |
| 11 | g.17387407del | CA3003288910 | KCNJ11 | c.424del (p.Glu142ArgfsTer27) c.685del (p.Glu229ArgfsTer27) c.424del (p.Glu142ArgfsTer?) n.843del | |
| 11 | g.17387407C>A | CA379771495 | KCNJ11 | c.424G>T (p.Glu142Ter) c.685G>T (p.Glu229Ter) n.843G>T | |
| 11 | g.17387407C= | CA1955119249 | KCNJ11 | c.424G= (p.Glu142=) c.685G= (p.Glu229=) n.843G= | |
| 11 | g.17387407C>G | CA379771504 | KCNJ11 | c.424G>C (p.Glu142Gln) c.685G>C (p.Glu229Gln) n.843G>C | |
| 11 | g.17387407C>T | CA172342 | KCNJ11 | c.424G>A (p.Glu142Lys) c.685G>A (p.Glu229Lys) n.843G>A | ClinVar dbSNP |
| 11 | g.17387408G>A | CA5902263 | KCNJ11 | c.423C>T (p.Gly141=) c.684C>T (p.Gly228=) n.842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387408G>C | CA473515632 | KCNJ11 | c.423C>G (p.Gly141=) c.684C>G (p.Gly228=) n.842C>G | |
| 11 | g.17387408G= | CA1955119250 | KCNJ11 | c.423C= (p.Gly141=) c.684C= (p.Gly228=) n.842C= | |
| 11 | g.17387408G>T | CA473515633 | KCNJ11 | c.423C>A (p.Gly141=) c.684C>A (p.Gly228=) n.842C>A | gnomAD v4 |
| 11 | g.17387409C>A | CA379771511 | KCNJ11 | c.422G>T (p.Gly141Val) c.683G>T (p.Gly228Val) n.841G>T | |
| 11 | g.17387409C>G | CA379771514 | KCNJ11 | c.422G>C (p.Gly141Ala) c.683G>C (p.Gly228Ala) n.841G>C | |
| 11 | g.17387409C>T | CA379771517 | KCNJ11 | c.422G>A (p.Gly141Asp) c.683G>A (p.Gly228Asp) n.841G>A | |
| 11 | g.17387411dup | CA3003288912 | KCNJ11 | c.422dup (p.Glu142ArgfsTer?) c.683dup (p.Glu229ArgfsTer?) n.841dup | |
| 11 | g.17387411del | CA3003288911 | KCNJ11 | c.422del (p.Gly141AlafsTer28) c.683del (p.Gly228AlafsTer28) c.422del (p.Gly141AlafsTer?) n.841del | |
| 11 | g.17387410C>A | CA379771520 | KCNJ11 | c.421G>T (p.Gly141Cys) c.682G>T (p.Gly228Cys) n.840G>T | |
| 11 | g.17387410C= | CA1955119251 | KCNJ11 | c.421G= (p.Gly141=) c.682G= (p.Gly228=) n.840G= | |
| 11 | g.17387410C>G | CA379771525 | KCNJ11 | c.421G>C (p.Gly141Arg) c.682G>C (p.Gly228Arg) n.840G>C |