| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387334dup | CA3003288829 | KCNJ11 | c.500dup (p.Leu168AlafsTer8) c.761dup (p.Leu255AlafsTer8) n.919dup | |
| 11 | g.17387334del | CA3003288827 | KCNJ11 | c.500del (p.Pro167ArgfsTer2) c.761del (p.Pro254ArgfsTer2) n.919del | |
| 11 | g.17387333G>A | CA5902252 | KCNJ11 | c.498C>T (p.Ala166=) c.759C>T (p.Ala253=) n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387333G>C | CA5902253 | KCNJ11 | c.498C>G (p.Ala166=) c.759C>G (p.Ala253=) n.917C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.17387333G= | CA1955119218 | KCNJ11 | c.498C= (p.Ala166=) c.759C= (p.Ala253=) n.917C= | |
| 11 | g.17387333G>T | CA473515449 | KCNJ11 | c.498C>A (p.Ala166=) c.759C>A (p.Ala253=) n.917C>A | |
| 11 | g.17387334G>A | CA379770953 | KCNJ11 | c.497C>T (p.Ala166Val) c.758C>T (p.Ala253Val) n.916C>T | dbSNP gnomAD v4 |
| 11 | g.17387334G>C | CA379770955 | KCNJ11 | c.497C>G (p.Ala166Gly) c.758C>G (p.Ala253Gly) n.916C>G | |
| 11 | g.17387334G= | CA1955119219 | KCNJ11 | c.497C= (p.Ala166=) c.758C= (p.Ala253=) n.916C= | |
| 11 | g.17387334G>T | CA379770969 | KCNJ11 | c.497C>A (p.Ala166Asp) c.758C>A (p.Ala253Asp) n.916C>A | gnomAD v4 |
| 11 | g.17387335C>A | CA379770976 | KCNJ11 | c.496G>T (p.Ala166Ser) c.757G>T (p.Ala253Ser) n.915G>T | gnomAD v4 |
| 11 | g.17387335C>G | CA379770979 | KCNJ11 | c.496G>C (p.Ala166Pro) c.757G>C (p.Ala253Pro) n.915G>C | |
| 11 | g.17387335C>T | CA379770974 | KCNJ11 | c.496G>A (p.Ala166Thr) c.757G>A (p.Ala253Thr) n.915G>A | gnomAD v4 |
| 11 | g.17387336del | CA3003288852 | KCNJ11 | c.496del (p.Ala166ProfsTer3) c.757del (p.Ala253ProfsTer3) n.915del | |
| 11 | g.17387336C>A | CA473515454 | KCNJ11 | c.495G>T (p.Val165=) c.756G>T (p.Val252=) n.914G>T | |
| 11 | g.17387336C>G | CA473515455 | KCNJ11 | c.495G>C (p.Val165=) c.756G>C (p.Val252=) n.914G>C | |
| 11 | g.17387336C>T | CA473515456 | KCNJ11 | c.495G>A (p.Val165=) c.756G>A (p.Val252=) n.914G>A | |
| 11 | g.17387337del | CA2612638705 | KCNJ11 | c.494del (p.Val165GlyfsTer4) c.755del (p.Val252GlyfsTer4) n.913del | gnomAD v4 |
| 11 | g.17387337A= | CA1955119220 | KCNJ11 | c.494T= (p.Val165=) c.755T= (p.Val252=) n.913T= | |
| 11 | g.17387337A>C | CA379770983 | KCNJ11 | c.494T>G (p.Val165Gly) c.755T>G (p.Val252Gly) n.913T>G | |
| 11 | g.17387337A>G | CA341726 | KCNJ11 | c.494T>C (p.Val165Ala) c.755T>C (p.Val252Ala) n.913T>C | ClinVar dbSNP |
| 11 | g.17387337A>T | CA379770987 | KCNJ11 | c.494T>A (p.Val165Glu) c.755T>A (p.Val252Glu) n.913T>A | |
| 11 | g.17387338C>A | CA379770990 | KCNJ11 | c.493G>T (p.Val165Leu) c.754G>T (p.Val252Leu) n.912G>T | ClinVar dbSNP |
| 11 | g.17387338C>G | CA379770993 | KCNJ11 | c.493G>C (p.Val165Leu) c.754G>C (p.Val252Leu) n.912G>C | |
| 11 | g.17387338C>T | CA379770996 | KCNJ11 | c.493G>A (p.Val165Met) c.754G>A (p.Val252Met) n.912G>A | |
| 11 | g.17387339del | CA3003288854 | KCNJ11 | c.493del (p.Val165TrpfsTer4) c.754del (p.Val252TrpfsTer4) n.912del | |
| 11 | g.17387339C>A | CA473515458 | KCNJ11 | c.492G>T (p.Leu164=) c.753G>T (p.Leu251=) n.911G>T | |
| 11 | g.17387339C= | CA1955119221 | KCNJ11 | c.492G= (p.Leu164=) c.753G= (p.Leu251=) n.911G= | |
| 11 | g.17387339C>G | CA5902254 | KCNJ11 | c.492G>C (p.Leu164=) c.753G>C (p.Leu251=) n.911G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387339C>T | CA473515459 | KCNJ11 | c.492G>A (p.Leu164=) c.753G>A (p.Leu251=) n.911G>A | |
| 11 | g.17387340del | CA3003288855 | KCNJ11 | c.491del (p.Leu164ArgfsTer5) c.752del (p.Leu251ArgfsTer5) n.910del | |
| 11 | g.17387340A>C | CA379771004 | KCNJ11 | c.491T>G (p.Leu164Arg) c.752T>G (p.Leu251Arg) n.910T>G | |
| 11 | g.17387340A>G | CA379771008 | KCNJ11 | c.491T>C (p.Leu164Pro) c.752T>C (p.Leu251Pro) n.910T>C | |
| 11 | g.17387340A>T | CA379771005 | KCNJ11 | c.491T>A (p.Leu164Gln) c.752T>A (p.Leu251Gln) n.910T>A | |
| 11 | g.17387341G>A | CA473515460 | KCNJ11 | c.490C>T (p.Leu164=) c.751C>T (p.Leu251=) n.909C>T | |
| 11 | g.17387341G>C | CA379771010 | KCNJ11 | c.490C>G (p.Leu164Val) c.751C>G (p.Leu251Val) n.909C>G | |
| 11 | g.17387341G>T | CA379771011 | KCNJ11 | c.490C>A (p.Leu164Met) c.751C>A (p.Leu251Met) n.909C>A | |
| 11 | g.17387342G>A | CA473515461 | KCNJ11 | c.489C>T (p.Phe163=) c.750C>T (p.Phe250=) n.908C>T | dbSNP |
| 11 | g.17387342G>C | CA379771016 | KCNJ11 | c.489C>G (p.Phe163Leu) c.750C>G (p.Phe250Leu) n.908C>G | |
| 11 | g.17387342G= | CA1955119222 | KCNJ11 | c.489C= (p.Phe163=) c.750C= (p.Phe250=) n.908C= | |
| 11 | g.17387342G>T | CA379771018 | KCNJ11 | c.489C>A (p.Phe163Leu) c.750C>A (p.Phe250Leu) n.908C>A | |
| 11 | g.17387343A>C | CA379771022 | KCNJ11 | c.488T>G (p.Phe163Cys) c.749T>G (p.Phe250Cys) n.907T>G | |
| 11 | g.17387343A>G | CA379771027 | KCNJ11 | c.488T>C (p.Phe163Ser) c.749T>C (p.Phe250Ser) n.907T>C | |
| 11 | g.17387343A>T | CA379771024 | KCNJ11 | c.488T>A (p.Phe163Tyr) c.749T>A (p.Phe250Tyr) n.907T>A | |
| 11 | g.17387344A>C | CA379771031 | KCNJ11 | c.487T>G (p.Phe163Val) c.748T>G (p.Phe250Val) n.906T>G | |
| 11 | g.17387344A>G | CA379771035 | KCNJ11 | c.487T>C (p.Phe163Leu) c.748T>C (p.Phe250Leu) n.906T>C | |
| 11 | g.17387344A>T | CA379771038 | KCNJ11 | c.487T>A (p.Phe163Ile) c.748T>A (p.Phe250Ile) n.906T>A | |
| 11 | g.17387345G>A | CA473515465 | KCNJ11 | c.486C>T (p.Ile162=) c.747C>T (p.Ile249=) n.905C>T | dbSNP |
| 11 | g.17387345G>C | CA379771041 | KCNJ11 | c.486C>G (p.Ile162Met) c.747C>G (p.Ile249Met) n.905C>G | |
| 11 | g.17387345G= | CA1955119223 | KCNJ11 | c.486C= (p.Ile162=) c.747C= (p.Ile249=) n.905C= |