| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387644_17387652dup | CA2561859217 | KCNJ11 | c.180_188dup (p.Leu62_Ile63insMetIleLeu) c.441_449dup (p.Leu149_Ile150insMetIleLeu) n.599_607dup | |
| 11 | g.17387652A= | CA1955119346 | KCNJ11 | c.212T= (p.Leu71=) c.179T= (p.Leu60=) c.440T= (p.Leu147=) c.457T= n.598T= | |
| 11 | g.17387652A>C | CA379773712 | KCNJ11 | c.212T>G (p.Leu71Arg) c.179T>G (p.Leu60Arg) c.440T>G (p.Leu147Arg) c.457T>G n.598T>G | |
| 11 | g.17387652A>G | CA254515 | KCNJ11 | c.212T>C (p.Leu71Pro) c.179T>C (p.Leu60Pro) c.440T>C (p.Leu147Pro) c.457T>C n.598T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387652A>T | CA379773709 | KCNJ11 | c.212T>A (p.Leu71Gln) c.179T>A (p.Leu60Gln) c.440T>A (p.Leu147Gln) c.457T>A n.598T>A | |
| 11 | g.17387653G>A | CA473515552 | KCNJ11 | c.211C>T (p.Leu71=) c.178C>T (p.Leu60=) c.439C>T (p.Leu147=) c.456C>T n.597C>T | |
| 11 | g.17387653G>C | CA379773716 | KCNJ11 | c.211C>G (p.Leu71Val) c.178C>G (p.Leu60Val) c.439C>G (p.Leu147Val) c.456C>G n.597C>G | |
| 11 | g.17387653G>T | CA379773717 | KCNJ11 | c.211C>A (p.Leu71Met) c.178C>A (p.Leu60Met) c.439C>A (p.Leu147Met) c.456C>A n.597C>A | |
| 11 | g.17387654del | CA2612639023 | KCNJ11 | c.211del (p.Leu71Ter) c.178del (p.Leu60Ter) c.439del (p.Leu147Ter) c.456del n.597del | gnomAD v4 |
| 11 | g.17387654G>A | CA473515553 | KCNJ11 | c.210C>T (p.Ile70=) c.177C>T (p.Ile59=) c.438C>T (p.Ile146=) c.455C>T n.596C>T | |
| 11 | g.17387654G>C | CA379773718 | KCNJ11 | c.210C>G (p.Ile70Met) c.177C>G (p.Ile59Met) c.438C>G (p.Ile146Met) c.455C>G n.596C>G | |
| 11 | g.17387654G>T | CA473515554 | KCNJ11 | c.210C>A (p.Ile70=) c.177C>A (p.Ile59=) c.438C>A (p.Ile146=) c.455C>A n.596C>A | |
| 11 | g.17387655A= | CA1955119347 | KCNJ11 | c.209T= (p.Ile70=) c.176T= (p.Ile59=) c.437T= (p.Ile146=) c.454T= n.595T= | |
| 11 | g.17387655A>C | CA379773721 | KCNJ11 | c.209T>G (p.Ile70Ser) c.176T>G (p.Ile59Ser) c.437T>G (p.Ile146Ser) c.454T>G n.595T>G | |
| 11 | g.17387655A>G | CA379773724 | KCNJ11 | c.209T>C (p.Ile70Thr) c.176T>C (p.Ile59Thr) c.437T>C (p.Ile146Thr) c.454T>C n.595T>C | |
| 11 | g.17387655A>T | CA379773731 | KCNJ11 | c.209T>A (p.Ile70Asn) c.176T>A (p.Ile59Asn) c.437T>A (p.Ile146Asn) c.454T>A n.595T>A | dbSNP gnomAD v2 |
| 11 | g.17387656T>A | CA379773743 | KCNJ11 | c.208A>T (p.Ile70Phe) c.175A>T (p.Ile59Phe) c.436A>T (p.Ile146Phe) c.453A>T n.594A>T | |
| 11 | g.17387656T>C | CA379773748 | KCNJ11 | c.208A>G (p.Ile70Val) c.175A>G (p.Ile59Val) c.436A>G (p.Ile146Val) c.453A>G n.594A>G | |
| 11 | g.17387656T>G | CA379773752 | KCNJ11 | c.208A>C (p.Ile70Leu) c.175A>C (p.Ile59Leu) c.436A>C (p.Ile146Leu) c.453A>C n.594A>C | |
| 11 | g.17387657G>A | CA473515556 | KCNJ11 | c.207C>T (p.Ala69=) c.174C>T (p.Ala58=) c.435C>T (p.Ala145=) c.452C>T n.593C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387657G>C | CA473515557 | KCNJ11 | c.207C>G (p.Ala69=) c.174C>G (p.Ala58=) c.435C>G (p.Ala145=) c.452C>G n.593C>G | |
| 11 | g.17387657G= | CA1955119348 | KCNJ11 | c.207C= (p.Ala69=) c.174C= (p.Ala58=) c.435C= (p.Ala145=) c.452C= n.593C= | |
| 11 | g.17387657G>T | CA473515555 | KCNJ11 | c.207C>A (p.Ala69=) c.174C>A (p.Ala58=) c.435C>A (p.Ala145=) c.452C>A n.593C>A | dbSNP gnomAD v4 |
| 11 | g.17387658G>A | CA379773758 | KCNJ11 | c.206C>T (p.Ala69Val) c.173C>T (p.Ala58Val) c.434C>T (p.Ala145Val) c.451C>T n.592C>T | |
| 11 | g.17387658G>C | CA379773762 | KCNJ11 | c.206C>G (p.Ala69Gly) c.173C>G (p.Ala58Gly) c.434C>G (p.Ala145Gly) c.451C>G n.592C>G | |
| 11 | g.17387658G>T | CA379773766 | KCNJ11 | c.206C>A (p.Ala69Asp) c.173C>A (p.Ala58Asp) c.434C>A (p.Ala145Asp) c.451C>A n.592C>A | |
| 11 | g.17387659C>A | CA379773768 | KCNJ11 | c.205G>T (p.Ala69Ser) c.172G>T (p.Ala58Ser) c.433G>T (p.Ala145Ser) c.450G>T n.591G>T | |
| 11 | g.17387659C= | CA1955119349 | KCNJ11 | c.205G= (p.Ala69=) c.172G= (p.Ala58=) c.433G= (p.Ala145=) c.450G= n.591G= | |
| 11 | g.17387659C>G | CA379773770 | KCNJ11 | c.205G>C (p.Ala69Pro) c.172G>C (p.Ala58Pro) c.433G>C (p.Ala145Pro) c.450G>C n.591G>C | |
| 11 | g.17387659C>T | CA379773769 | KCNJ11 | c.205G>A (p.Ala69Thr) c.172G>A (p.Ala58Thr) c.433G>A (p.Ala145Thr) c.450G>A n.591G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387660C>A | CA473515560 | KCNJ11 | c.204G>T (p.Leu68=) c.171G>T (p.Leu57=) c.432G>T (p.Leu144=) c.449G>T n.590G>T | |
| 11 | g.17387660C>G | CA473515558 | KCNJ11 | c.204G>C (p.Leu68=) c.171G>C (p.Leu57=) c.432G>C (p.Leu144=) c.449G>C n.590G>C | |
| 11 | g.17387660C>T | CA473515559 | KCNJ11 | c.204G>A (p.Leu68=) c.171G>A (p.Leu57=) c.432G>A (p.Leu144=) c.449G>A n.590G>A | |
| 11 | g.17387661A>C | CA379773777 | KCNJ11 | c.203T>G (p.Leu68Arg) c.170T>G (p.Leu57Arg) c.431T>G (p.Leu144Arg) c.448T>G n.589T>G | |
| 11 | g.17387661A>G | CA379773780 | KCNJ11 | c.203T>C (p.Leu68Pro) c.170T>C (p.Leu57Pro) c.431T>C (p.Leu144Pro) c.448T>C n.589T>C | |
| 11 | g.17387661A>T | CA379773784 | KCNJ11 | c.203T>A (p.Leu68Gln) c.170T>A (p.Leu57Gln) c.431T>A (p.Leu144Gln) c.448T>A n.589T>A | |
| 11 | g.17387662G>A | CA473515561 | KCNJ11 | c.202C>T (p.Leu68=) c.169C>T (p.Leu57=) c.430C>T (p.Leu144=) c.447C>T n.588C>T | |
| 11 | g.17387662G>C | CA379773788 | KCNJ11 | c.202C>G (p.Leu68Val) c.169C>G (p.Leu57Val) c.430C>G (p.Leu144Val) c.447C>G n.588C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387662G= | CA1955119350 | KCNJ11 | c.202C= (p.Leu68=) c.169C= (p.Leu57=) c.430C= (p.Leu144=) c.447C= n.588C= | |
| 11 | g.17387662G>T | CA379773790 | KCNJ11 | c.202C>A (p.Leu68Met) c.169C>A (p.Leu57Met) c.430C>A (p.Leu144Met) c.447C>A n.588C>A | |
| 11 | g.17387663T>A | CA473515562 | KCNJ11 | c.201A>T (p.Pro67=) c.168A>T (p.Pro56=) c.429A>T (p.Pro143=) c.446A>T n.587A>T | |
| 11 | g.17387663T>C | CA473515564 | KCNJ11 | c.201A>G (p.Pro67=) c.168A>G (p.Pro56=) c.429A>G (p.Pro143=) c.446A>G n.587A>G | dbSNP |
| 11 | g.17387663T>G | CA473515563 | KCNJ11 | c.201A>C (p.Pro67=) c.168A>C (p.Pro56=) c.429A>C (p.Pro143=) c.446A>C n.587A>C | |
| 11 | g.17387664G>A | CA379773793 | KCNJ11 | c.200C>T (p.Pro67Leu) c.167C>T (p.Pro56Leu) c.428C>T (p.Pro143Leu) c.445C>T n.586C>T | gnomAD v4 |
| 11 | g.17387664G>C | CA379773796 | KCNJ11 | c.200C>G (p.Pro67Arg) c.167C>G (p.Pro56Arg) c.428C>G (p.Pro143Arg) c.445C>G n.586C>G | |
| 11 | g.17387664G>T | CA379773802 | KCNJ11 | c.200C>A (p.Pro67Gln) c.167C>A (p.Pro56Gln) c.428C>A (p.Pro143Gln) c.445C>A n.586C>A | |
| 11 | g.17387665G>A | CA379773807 | KCNJ11 | c.199C>T (p.Pro67Ser) c.166C>T (p.Pro56Ser) c.427C>T (p.Pro143Ser) c.444C>T n.585C>T | |
| 11 | g.17387665G>C | CA379773810 | KCNJ11 | c.199C>G (p.Pro67Ala) c.166C>G (p.Pro56Ala) c.427C>G (p.Pro143Ala) c.444C>G n.585C>G | |
| 11 | g.17387665G>T | CA379773816 | KCNJ11 | c.199C>A (p.Pro67Thr) c.166C>A (p.Pro56Thr) c.427C>A (p.Pro143Thr) c.444C>A n.585C>A | |
| 11 | g.17387666G>A | CA473515565 | KCNJ11 | c.198C>T (p.Cys66=) c.165C>T (p.Cys55=) c.426C>T (p.Cys142=) c.443C>T n.584C>T | dbSNP gnomAD v2 gnomAD v4 |