| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 11 | g.17387415G>C | CA379771559 | KCNJ11 | c.416C>G (p.Pro139Arg) c.677C>G (p.Pro226Arg) n.835C>G | |
| 11 | g.17387415G>T | CA379771561 | KCNJ11 | c.416C>A (p.Pro139His) c.677C>A (p.Pro226His) n.835C>A | |
| 11 | g.17387416G>A | CA379771566 | KCNJ11 | c.415C>T (p.Pro139Ser) c.676C>T (p.Pro226Ser) n.834C>T | gnomAD v4 |
| 11 | g.17387416G>C | CA379771563 | KCNJ11 | c.415C>G (p.Pro139Ala) c.676C>G (p.Pro226Ala) n.834C>G | |
| 11 | g.17387416G>T | CA379771565 | KCNJ11 | c.415C>A (p.Pro139Thr) c.676C>A (p.Pro226Thr) n.834C>A | |
| 11 | g.17387417G>A | CA473515645 | KCNJ11 | c.414C>T (p.Ser138=) c.675C>T (p.Ser225=) n.833C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387417G>C | CA379771569 | KCNJ11 | c.414C>G (p.Ser138Arg) c.675C>G (p.Ser225Arg) n.833C>G | |
| 11 | g.17387417G>T | CA379771571 | KCNJ11 | c.414C>A (p.Ser138Arg) c.675C>A (p.Ser225Arg) n.833C>A | |
| 11 | g.17387418C>A | CA379771574 | KCNJ11 | c.413G>T (p.Ser138Ile) c.674G>T (p.Ser225Ile) n.832G>T | gnomAD v4 |
| 11 | g.17387418C>G | CA379771576 | KCNJ11 | c.413G>C (p.Ser138Thr) c.674G>C (p.Ser225Thr) n.832G>C | |
| 11 | g.17387418C>T | CA379771577 | KCNJ11 | c.413G>A (p.Ser138Asn) c.674G>A (p.Ser225Asn) n.832G>A | COSMIC |
| 11 | g.17387418_17387419insG | CA3003288929 | KCNJ11 | c.412_413insC (p.Ser138ThrfsTer?) c.673_674insC (p.Ser225ThrfsTer?) n.831_832insC | |
| 11 | g.17387419T>A | CA379771580 | KCNJ11 | c.412A>T (p.Ser138Cys) c.673A>T (p.Ser225Cys) n.831A>T | |
| 11 | g.17387419T>C | CA379771582 | KCNJ11 | c.412A>G (p.Ser138Gly) c.673A>G (p.Ser225Gly) n.831A>G | gnomAD v4 |
| 11 | g.17387419T>G | CA379771586 | KCNJ11 | c.412A>C (p.Ser138Arg) c.673A>C (p.Ser225Arg) n.831A>C | |
| 11 | g.17387420G>A | CA473515647 | KCNJ11 | c.411C>T (p.Thr137=) c.672C>T (p.Thr224=) n.830C>T | gnomAD v4 |
| 11 | g.17387420G>C | CA473515648 | KCNJ11 | c.411C>G (p.Thr137=) c.672C>G (p.Thr224=) n.830C>G | |
| 11 | g.17387420G>T | CA473515649 | KCNJ11 | c.411C>A (p.Thr137=) c.672C>A (p.Thr224=) n.830C>A | |
| 11 | g.17387421del | CA3003288930 | KCNJ11 | c.411del (p.Ser138AlafsTer?) c.672del (p.Ser225AlafsTer?) n.830del | |
| 11 | g.17387421G>A | CA379771593 | KCNJ11 | c.410C>T (p.Thr137Ile) c.671C>T (p.Thr224Ile) n.829C>T |