| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387329G>A | CA473515443 | KCNJ11 | c.502C>T (p.Leu168=) c.763C>T (p.Leu255=) n.921C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387329G>C | CA379770924 | KCNJ11 | c.502C>G (p.Leu168Val) c.763C>G (p.Leu255Val) n.921C>G | |
| 11 | g.17387329G= | CA1955119215 | KCNJ11 | c.502C= (p.Leu168=) c.763C= (p.Leu255=) n.921C= | |
| 11 | g.17387329G>T | CA379770927 | KCNJ11 | c.502C>A (p.Leu168Met) c.763C>A (p.Leu255Met) n.921C>A | |
| 11 | g.17387330del | CA3003288822 | KCNJ11 | c.501del (p.Leu168Ter) c.762del (p.Leu255Ter) n.920del | |
| 11 | g.17387330C>A | CA473515444 | KCNJ11 | c.501G>T (p.Pro167=) c.762G>T (p.Pro254=) n.920G>T | |
| 11 | g.17387330C= | CA1955119216 | KCNJ11 | c.501G= (p.Pro167=) c.762G= (p.Pro254=) n.920G= | |
| 11 | g.17387330C>G | CA473515445 | KCNJ11 | c.501G>C (p.Pro167=) c.762G>C (p.Pro254=) n.920G>C | |
| 11 | g.17387330C>T | CA5902251 | KCNJ11 | c.501G>A (p.Pro167=) c.762G>A (p.Pro254=) n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387331G>A | CA254520 | KCNJ11 | c.500C>T (p.Pro167Leu) c.761C>T (p.Pro254Leu) n.919C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387331G>C | CA379770937 | KCNJ11 | c.500C>G (p.Pro167Arg) c.761C>G (p.Pro254Arg) n.919C>G | |
| 11 | g.17387331G= | CA1955119217 | KCNJ11 | c.500C= (p.Pro167=) c.761C= (p.Pro254=) n.919C= | |
| 11 | g.17387331G>T | CA379770938 | KCNJ11 | c.500C>A (p.Pro167Gln) c.761C>A (p.Pro254Gln) n.919C>A | |
| 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.17387332G>A | CA379770942 | KCNJ11 | c.499C>T (p.Pro167Ser) c.760C>T (p.Pro254Ser) n.918C>T | gnomAD v4 |
| 11 | g.17387332G>C | CA379770944 | KCNJ11 | c.499C>G (p.Pro167Ala) c.760C>G (p.Pro254Ala) n.918C>G | |
| 11 | g.17387332G>T | CA379770946 | KCNJ11 | c.499C>A (p.Pro167Thr) c.760C>A (p.Pro254Thr) n.918C>A | |
| 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 |