Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
11 | g.17387410C>T | CA218399688 | KCNJ11 | c.421G>A (p.Gly141Ser) c.682G>A (p.Gly228Ser) n.840G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387411C>A | CA379771528 | KCNJ11 | c.420G>T (p.Glu140Asp) c.681G>T (p.Glu227Asp) n.839G>T | |
11 | g.17387411C= | CA1955119252 | KCNJ11 | c.420G= (p.Glu140=) c.681G= (p.Glu227=) n.839G= | |
11 | g.17387411C>G | CA379771529 | KCNJ11 | c.420G>C (p.Glu140Asp) c.681G>C (p.Glu227Asp) n.839G>C | dbSNP |
11 | g.17387411C>T | CA473515639 | KCNJ11 | c.420G>A (p.Glu140=) c.681G>A (p.Glu227=) n.839G>A | |
11 | g.17387412del | CA3003288913 | KCNJ11 | c.419del (p.Glu140GlyfsTer29) c.680del (p.Glu227GlyfsTer29) c.419del (p.Glu140GlyfsTer?) n.838del | |
11 | g.17387412T>A | CA379771535 | KCNJ11 | c.419A>T (p.Glu140Val) c.680A>T (p.Glu227Val) n.838A>T | |
11 | g.17387412T>C | CA379771537 | KCNJ11 | c.419A>G (p.Glu140Gly) c.680A>G (p.Glu227Gly) n.838A>G | |
11 | g.17387412T>G | CA379771539 | KCNJ11 | c.419A>C (p.Glu140Ala) c.680A>C (p.Glu227Ala) n.838A>C | |
11 | g.17387412_17387413delinsAG | CA2695213242 | KCNJ11 | c.418_419delinsCT (p.Glu140Leu) c.679_680delinsCT (p.Glu227Leu) n.837_838delinsCT | |
11 | g.17387413del | CA3003288916 | KCNJ11 | c.418del (p.Glu140ArgfsTer29) c.679del (p.Glu227ArgfsTer29) c.418del (p.Glu140ArgfsTer?) n.837del | |
11 | g.17387413C>A | CA379771548 | KCNJ11 | c.418G>T (p.Glu140Ter) c.679G>T (p.Glu227Ter) n.837G>T | |
11 | g.17387413C= | CA1955119253 | KCNJ11 | c.418G= (p.Glu140=) c.679G= (p.Glu227=) n.837G= | |
11 | g.17387413C>G | CA379771550 | KCNJ11 | c.418G>C (p.Glu140Gln) c.679G>C (p.Glu227Gln) n.837G>C | |
11 | g.17387413C>T | CA172340 | KCNJ11 | c.418G>A (p.Glu140Lys) c.679G>A (p.Glu227Lys) n.837G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.17387413_17387414del | CA3003288915 | KCNJ11 | c.417_418del (p.Glu140GlyfsTer?) c.678_679del (p.Glu227GlyfsTer?) n.836_837del | |
11 | g.17387413_17387414insA | CA3003288920 | KCNJ11 | c.417_418insT (p.Glu140Ter) c.678_679insT (p.Glu227Ter) n.836_837insT | |
11 | g.17387414G>A | CA238617 | KCNJ11 | c.417C>T (p.Pro139=) c.678C>T (p.Pro226=) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387414G>C | CA473515643 | KCNJ11 | c.417C>G (p.Pro139=) c.678C>G (p.Pro226=) n.836C>G | dbSNP |
11 | g.17387414G= | CA1955119254 | KCNJ11 | c.417C= (p.Pro139=) c.678C= (p.Pro226=) n.836C= | |
11 | g.17387414G>T | CA473515642 | KCNJ11 | c.417C>A (p.Pro139=) c.678C>A (p.Pro226=) n.836C>A | |
11 | g.17387417dup | CA3003288919 | KCNJ11 | c.417dup (p.Glu140ArgfsTer?) c.678dup (p.Glu227ArgfsTer?) n.836dup | |
11 | g.17387417del | CA2612638755 | KCNJ11 | c.417del (p.Glu140ArgfsTer29) c.678del (p.Glu227ArgfsTer29) c.417del (p.Glu140ArgfsTer?) n.836del | gnomAD v4 |
11 | g.17387414_17387415insA | CA3003288925 | KCNJ11 | c.416_417insT (p.Glu140ArgfsTer?) c.677_678insT (p.Glu227ArgfsTer?) n.835_836insT | |
11 | g.17387415G>A | CA379771556 | KCNJ11 | c.416C>T (p.Pro139Leu) c.677C>T (p.Pro226Leu) n.835C>T |