Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839833G>A | CA6357527 | KCNJ1 | c.411C>T (p.Ala137=) c.468C>T (p.Ala156=) c.462C>T (p.Ala154=) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.128839833G>C | CA477703504 | KCNJ1 | c.411C>G (p.Ala137=) c.468C>G (p.Ala156=) c.462C>G (p.Ala154=) | |
11 | g.128839833G= | CA2008251189 | KCNJ1 | c.411C= (p.Ala137=) c.468C= (p.Ala156=) c.462C= (p.Ala154=) | |
11 | g.128839833G>T | CA477703505 | KCNJ1 | c.411C>A (p.Ala137=) c.468C>A (p.Ala156=) c.462C>A (p.Ala154=) | |
11 | g.128839834G>A | CA383245262 | KCNJ1 | c.410C>T (p.Ala137Val) c.467C>T (p.Ala156Val) c.461C>T (p.Ala154Val) | |
11 | g.128839834G>C | CA383245259 | KCNJ1 | c.410C>G (p.Ala137Gly) c.467C>G (p.Ala156Gly) c.461C>G (p.Ala154Gly) | |
11 | g.128839834G= | CA2008251192 | KCNJ1 | c.410C= (p.Ala137=) c.467C= (p.Ala156=) c.461C= (p.Ala154=) | |
11 | g.128839834G>T | CA383245258 | KCNJ1 | c.410C>A (p.Ala137Asp) c.467C>A (p.Ala156Asp) c.461C>A (p.Ala154Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839835C>A | CA383245268 | KCNJ1 | c.409G>T (p.Ala137Ser) c.466G>T (p.Ala156Ser) c.460G>T (p.Ala154Ser) | gnomAD v4 |
11 | g.128839835C>G | CA383245271 | KCNJ1 | c.409G>C (p.Ala137Pro) c.466G>C (p.Ala156Pro) c.460G>C (p.Ala154Pro) | |
11 | g.128839835C>T | CA383245274 | KCNJ1 | c.409G>A (p.Ala137Thr) c.466G>A (p.Ala156Thr) c.460G>A (p.Ala154Thr) | gnomAD v4 |
11 | g.128839836A>C | CA477703509 | KCNJ1 | c.408T>G (p.Thr136=) c.465T>G (p.Thr155=) c.459T>G (p.Thr153=) | |
11 | g.128839836A>G | CA477703510 | KCNJ1 | c.408T>C (p.Thr136=) c.465T>C (p.Thr155=) c.459T>C (p.Thr153=) | |
11 | g.128839836A>T | CA477703511 | KCNJ1 | c.408T>A (p.Thr136=) c.465T>A (p.Thr155=) c.459T>A (p.Thr153=) | |
11 | g.128839837G>A | CA383245276 | KCNJ1 | c.407C>T (p.Thr136Ile) c.464C>T (p.Thr155Ile) c.458C>T (p.Thr153Ile) | dbSNP |
11 | g.128839837G>C | CA383245277 | KCNJ1 | c.407C>G (p.Thr136Ser) c.464C>G (p.Thr155Ser) c.458C>G (p.Thr153Ser) | |
11 | g.128839837G= | CA2008251194 | KCNJ1 | c.407C= (p.Thr136=) c.464C= (p.Thr155=) c.458C= (p.Thr153=) | |
11 | g.128839837G>T | CA383245278 | KCNJ1 | c.407C>A (p.Thr136Asn) c.464C>A (p.Thr155Asn) c.458C>A (p.Thr153Asn) | |
11 | g.128839837_128839850delinsGTGGCACACTGTTC | CA2008251196 | KCNJ1 | c.394_407delinsGAACAGTGTGCCAC (p.Glu132=) c.451_464delinsGAACAGTGTGCCAC (p.Glu151=) c.445_458delinsGAACAGTGTGCCAC (p.Glu149=) | |
11 | g.128839838T>A | CA383245287 | KCNJ1 | c.406A>T (p.Thr136Ser) c.463A>T (p.Thr155Ser) c.457A>T (p.Thr153Ser) | |
11 | g.128839838T>C | CA383245281 | KCNJ1 | c.406A>G (p.Thr136Ala) c.463A>G (p.Thr155Ala) c.457A>G (p.Thr153Ala) | |
11 | g.128839838T>G | CA383245284 | KCNJ1 | c.406A>C (p.Thr136Pro) c.463A>C (p.Thr155Pro) c.457A>C (p.Thr153Pro) | gnomAD v4 |
11 | g.128839840_128839852del | CA2008251197 | KCNJ1 | c.394_406del (p.Glu132LeufsTer15) c.394_406del (p.Glu132LeufsTer?) c.451_463del (p.Glu151LeufsTer15) c.445_457del (p.Glu149LeufsTer15) | dbSNP |
11 | g.128839839G>A | CA477703512 | KCNJ1 | c.405C>T (p.Ala135=) c.462C>T (p.Ala154=) c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839839G>C | CA477703513 | KCNJ1 | c.405C>G (p.Ala135=) c.462C>G (p.Ala154=) c.456C>G (p.Ala152=) | |
11 | g.128839839G= | CA2008251198 | KCNJ1 | c.405C= (p.Ala135=) c.462C= (p.Ala154=) c.456C= (p.Ala152=) | |
11 | g.128839839G>T | CA477703514 | KCNJ1 | c.405C>A (p.Ala135=) c.462C>A (p.Ala154=) c.456C>A (p.Ala152=) | |
11 | g.128839840G>A | CA383245291 | KCNJ1 | c.404C>T (p.Ala135Val) c.461C>T (p.Ala154Val) c.455C>T (p.Ala152Val) | gnomAD v4 |
11 | g.128839840G>C | CA383245292 | KCNJ1 | c.404C>G (p.Ala135Gly) c.461C>G (p.Ala154Gly) c.455C>G (p.Ala152Gly) | |
11 | g.128839840G>T | CA383245294 | KCNJ1 | c.404C>A (p.Ala135Asp) c.461C>A (p.Ala154Asp) c.455C>A (p.Ala152Asp) | |
11 | g.128839841C>A | CA383245297 | KCNJ1 | c.403G>T (p.Ala135Ser) c.460G>T (p.Ala154Ser) c.454G>T (p.Ala152Ser) | |
11 | g.128839841C>G | CA383245298 | KCNJ1 | c.403G>C (p.Ala135Pro) c.460G>C (p.Ala154Pro) c.454G>C (p.Ala152Pro) | |
11 | g.128839841C>T | CA383245301 | KCNJ1 | c.403G>A (p.Ala135Thr) c.460G>A (p.Ala154Thr) c.454G>A (p.Ala152Thr) | |
11 | g.128839842A>C | CA383245303 | KCNJ1 | c.402T>G (p.Cys134Trp) c.459T>G (p.Cys153Trp) c.453T>G (p.Cys151Trp) | |
11 | g.128839842A>G | CA477703515 | KCNJ1 | c.402T>C (p.Cys134=) c.459T>C (p.Cys153=) c.453T>C (p.Cys151=) | |
11 | g.128839842A>T | CA383245305 | KCNJ1 | c.402T>A (p.Cys134Ter) c.459T>A (p.Cys153Ter) c.453T>A (p.Cys151Ter) | |
11 | g.128839843C>A | CA383245310 | KCNJ1 | c.401G>T (p.Cys134Phe) c.458G>T (p.Cys153Phe) c.452G>T (p.Cys151Phe) | |
11 | g.128839843C>G | CA383245326 | KCNJ1 | c.401G>C (p.Cys134Ser) c.458G>C (p.Cys153Ser) c.452G>C (p.Cys151Ser) | gnomAD v4 |
11 | g.128839843C>T | CA383245323 | KCNJ1 | c.401G>A (p.Cys134Tyr) c.458G>A (p.Cys153Tyr) c.452G>A (p.Cys151Tyr) | gnomAD v4 |
11 | g.128839844A>C | CA383245329 | KCNJ1 | c.400T>G (p.Cys134Gly) c.457T>G (p.Cys153Gly) c.451T>G (p.Cys151Gly) | |
11 | g.128839844A>G | CA383245332 | KCNJ1 | c.400T>C (p.Cys134Arg) c.457T>C (p.Cys153Arg) c.451T>C (p.Cys151Arg) | gnomAD v4 |
11 | g.128839844A>T | CA383245335 | KCNJ1 | c.400T>A (p.Cys134Ser) c.457T>A (p.Cys153Ser) c.451T>A (p.Cys151Ser) | |
11 | g.128839844_128839845insTTGT | CA2616771385 | KCNJ1 | c.399_400insACAA (p.Cys134ThrfsTer?) c.456_457insACAA (p.Cys153ThrfsTer?) c.450_451insACAA (p.Cys151ThrfsTer?) | gnomAD v4 |
11 | g.128839845C>A | CA383245337 | KCNJ1 | c.399G>T (p.Gln133His) c.456G>T (p.Gln152His) c.450G>T (p.Gln150His) | |
11 | g.128839845C= | CA2008251201 | KCNJ1 | c.399G= (p.Gln133=) c.456G= (p.Gln152=) c.450G= (p.Gln150=) | |
11 | g.128839845C>G | CA383245340 | KCNJ1 | c.399G>C (p.Gln133His) c.456G>C (p.Gln152His) c.450G>C (p.Gln150His) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839845C>T | CA477703519 | KCNJ1 | c.399G>A (p.Gln133=) c.456G>A (p.Gln152=) c.450G>A (p.Gln150=) | gnomAD v4 |
11 | g.128839846T>A | CA383245346 | KCNJ1 | c.398A>T (p.Gln133Leu) c.455A>T (p.Gln152Leu) c.449A>T (p.Gln150Leu) | |
11 | g.128839846T>C | CA383245348 | KCNJ1 | c.398A>G (p.Gln133Arg) c.455A>G (p.Gln152Arg) c.449A>G (p.Gln150Arg) | |
11 | g.128839846T>G | CA383245352 | KCNJ1 | c.398A>C (p.Gln133Pro) c.455A>C (p.Gln152Pro) c.449A>C (p.Gln150Pro) | |
11 | g.128839847G>A | CA383245353 | KCNJ1 | c.397C>T (p.Gln133Ter) c.454C>T (p.Gln152Ter) c.448C>T (p.Gln150Ter) | gnomAD v4 |
11 | g.128839847G>C | CA383245354 | KCNJ1 | c.397C>G (p.Gln133Glu) c.454C>G (p.Gln152Glu) c.448C>G (p.Gln150Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839847G= | CA2008251202 | KCNJ1 | c.397C= (p.Gln133=) c.454C= (p.Gln152=) c.448C= (p.Gln150=) | |
11 | g.128839847G>T | CA383245365 | KCNJ1 | c.397C>A (p.Gln133Lys) c.454C>A (p.Gln152Lys) c.448C>A (p.Gln150Lys) | |
11 | g.128839848T>A | CA383245370 | KCNJ1 | c.396A>T (p.Glu132Asp) c.453A>T (p.Glu151Asp) c.447A>T (p.Glu149Asp) | |
11 | g.128839848T>C | CA477703524 | KCNJ1 | c.396A>G (p.Glu132=) c.453A>G (p.Glu151=) c.447A>G (p.Glu149=) | |
11 | g.128839848T>G | CA383245368 | KCNJ1 | c.396A>C (p.Glu132Asp) c.453A>C (p.Glu151Asp) c.447A>C (p.Glu149Asp) | |
11 | g.128839849T>A | CA383245372 | KCNJ1 | c.395A>T (p.Glu132Val) c.452A>T (p.Glu151Val) c.446A>T (p.Glu149Val) | |
11 | g.128839849T>C | CA383245373 | KCNJ1 | c.395A>G (p.Glu132Gly) c.452A>G (p.Glu151Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
11 | g.128839849T>G | CA383245378 | KCNJ1 | c.395A>C (p.Glu132Ala) c.452A>C (p.Glu151Ala) c.446A>C (p.Glu149Ala) | |
11 | g.128839850C>A | CA383245382 | KCNJ1 | c.394G>T (p.Glu132Ter) c.451G>T (p.Glu151Ter) c.445G>T (p.Glu149Ter) | |
11 | g.128839850C>G | CA383245386 | KCNJ1 | c.394G>C (p.Glu132Gln) c.451G>C (p.Glu151Gln) c.445G>C (p.Glu149Gln) | |
11 | g.128839850C>T | CA383245387 | KCNJ1 | c.394G>A (p.Glu132Lys) c.451G>A (p.Glu151Lys) c.445G>A (p.Glu149Lys) | COSMIC |
11 | g.128839851T>A | CA477703530 | KCNJ1 | c.393A>T (p.Thr131=) c.450A>T (p.Thr150=) c.444A>T (p.Thr148=) | |
11 | g.128839851T>C | CA477703533 | KCNJ1 | c.393A>G (p.Thr131=) c.450A>G (p.Thr150=) c.444A>G (p.Thr148=) | |
11 | g.128839851T>G | CA477703532 | KCNJ1 | c.393A>C (p.Thr131=) c.450A>C (p.Thr150=) c.444A>C (p.Thr148=) | |
11 | g.128839852G>A | CA383245390 | KCNJ1 | c.392C>T (p.Thr131Ile) c.449C>T (p.Thr150Ile) c.443C>T (p.Thr148Ile) | |
11 | g.128839852G>C | CA6357528 | KCNJ1 | c.392C>G (p.Thr131Arg) c.449C>G (p.Thr150Arg) c.443C>G (p.Thr148Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839852G= | CA2008251205 | KCNJ1 | c.392C= (p.Thr131=) c.449C= (p.Thr150=) c.443C= (p.Thr148=) | |
11 | g.128839852G>T | CA383245393 | KCNJ1 | c.392C>A (p.Thr131Lys) c.449C>A (p.Thr150Lys) c.443C>A (p.Thr148Lys) | |
11 | g.128839853T>A | CA383245397 | KCNJ1 | c.391A>T (p.Thr131Ser) c.448A>T (p.Thr150Ser) c.442A>T (p.Thr148Ser) | |
11 | g.128839853T>C | CA383245399 | KCNJ1 | c.391A>G (p.Thr131Ala) c.448A>G (p.Thr150Ala) c.442A>G (p.Thr148Ala) | |
11 | g.128839853T>G | CA383245403 | KCNJ1 | c.391A>C (p.Thr131Pro) c.448A>C (p.Thr150Pro) c.442A>C (p.Thr148Pro) | |
11 | g.128839854C>A | CA477703535 | KCNJ1 | c.390G>T (p.Val130=) c.447G>T (p.Val149=) c.441G>T (p.Val147=) | |
11 | g.128839854C>G | CA477703536 | KCNJ1 | c.390G>C (p.Val130=) c.447G>C (p.Val149=) c.441G>C (p.Val147=) | |
11 | g.128839854C>T | CA477703537 | KCNJ1 | c.390G>A (p.Val130=) c.447G>A (p.Val149=) c.441G>A (p.Val147=) | |
11 | g.128839855A>C | CA383245411 | KCNJ1 | c.389T>G (p.Val130Gly) c.446T>G (p.Val149Gly) c.440T>G (p.Val147Gly) | |
11 | g.128839855A>G | CA383245412 | KCNJ1 | c.389T>C (p.Val130Ala) c.446T>C (p.Val149Ala) c.440T>C (p.Val147Ala) | |
11 | g.128839855A>T | CA383245408 | KCNJ1 | c.389T>A (p.Val130Glu) c.446T>A (p.Val149Glu) c.440T>A (p.Val147Glu) | |
11 | g.128839855_128839856insGTGTTCAGG | CA2695215887 | KCNJ1 | c.388_389insCCTGAACAC (p.Val130AlafsTer2) c.445_446insCCTGAACAC (p.Val149AlafsTer2) c.439_440insCCTGAACAC (p.Val147AlafsTer2) | |
11 | g.128839856C>A | CA383245413 | KCNJ1 | c.388G>T (p.Val130Leu) c.445G>T (p.Val149Leu) c.439G>T (p.Val147Leu) | gnomAD v4 |
11 | g.128839856C>G | CA383245414 | KCNJ1 | c.388G>C (p.Val130Leu) c.445G>C (p.Val149Leu) c.439G>C (p.Val147Leu) | |
11 | g.128839856C>T | CA383245415 | KCNJ1 | c.388G>A (p.Val130Met) c.445G>A (p.Val149Met) c.439G>A (p.Val147Met) | |
11 | g.128839857A>C | CA383245418 | KCNJ1 | c.387T>G (p.Cys129Trp) c.444T>G (p.Cys148Trp) c.438T>G (p.Cys146Trp) | |
11 | g.128839857A>G | CA477703542 | KCNJ1 | c.387T>C (p.Cys129=) c.444T>C (p.Cys148=) c.438T>C (p.Cys146=) | |
11 | g.128839857A>T | CA383245440 | KCNJ1 | c.387T>A (p.Cys129Ter) c.444T>A (p.Cys148Ter) c.438T>A (p.Cys146Ter) | |
11 | g.128839858C>A | CA383245448 | KCNJ1 | c.386G>T (p.Cys129Phe) c.443G>T (p.Cys148Phe) c.437G>T (p.Cys146Phe) | |
11 | g.128839858C= | CA2008251212 | KCNJ1 | c.386G= (p.Cys129=) c.443G= (p.Cys148=) c.437G= (p.Cys146=) | |
11 | g.128839858C>G | CA383245451 | KCNJ1 | c.386G>C (p.Cys129Ser) c.443G>C (p.Cys148Ser) c.437G>C (p.Cys146Ser) | |
11 | g.128839858C>T | CA383245458 | KCNJ1 | c.386G>A (p.Cys129Tyr) c.443G>A (p.Cys148Tyr) c.437G>A (p.Cys146Tyr) | dbSNP |
11 | g.128839859A>C | CA383245462 | KCNJ1 | c.385T>G (p.Cys129Gly) c.442T>G (p.Cys148Gly) c.436T>G (p.Cys146Gly) | |
11 | g.128839859A>G | CA383245466 | KCNJ1 | c.385T>C (p.Cys129Arg) c.442T>C (p.Cys148Arg) c.436T>C (p.Cys146Arg) | gnomAD v4 |
11 | g.128839859A>T | CA383245470 | KCNJ1 | c.385T>A (p.Cys129Ser) c.442T>A (p.Cys148Ser) c.436T>A (p.Cys146Ser) | |
11 | g.128839860C>A | CA383245475 | KCNJ1 | c.384G>T (p.Arg128Ser) c.441G>T (p.Arg147Ser) c.435G>T (p.Arg145Ser) | |
11 | g.128839860C>G | CA383245478 | KCNJ1 | c.384G>C (p.Arg128Ser) c.441G>C (p.Arg147Ser) c.435G>C (p.Arg145Ser) | |
11 | g.128839860C>T | CA477703549 | KCNJ1 | c.384G>A (p.Arg128=) c.441G>A (p.Arg147=) c.435G>A (p.Arg145=) | |
11 | g.128839861C>A | CA383245483 | KCNJ1 | c.383G>T (p.Arg128Met) c.440G>T (p.Arg147Met) c.434G>T (p.Arg145Met) | |
11 | g.128839861C>G | CA383245480 | KCNJ1 | c.383G>C (p.Arg128Thr) c.440G>C (p.Arg147Thr) c.434G>C (p.Arg145Thr) | |
11 | g.128839861C>T | CA383245479 | KCNJ1 | c.383G>A (p.Arg128Lys) c.440G>A (p.Arg147Lys) c.434G>A (p.Arg145Lys) | gnomAD v4 |
11 | g.128839862T>A | CA383245485 | KCNJ1 | c.382A>T (p.Arg128Trp) c.439A>T (p.Arg147Trp) c.433A>T (p.Arg145Trp) | |
11 | g.128839862T>C | CA383245487 | KCNJ1 | c.382A>G (p.Arg128Gly) c.439A>G (p.Arg147Gly) c.433A>G (p.Arg145Gly) | |
11 | g.128839862T>G | CA477703553 | KCNJ1 | c.382A>C (p.Arg128=) c.439A>C (p.Arg147=) c.433A>C (p.Arg145=) | |
11 | g.128839863G>A | CA477703554 | KCNJ1 | c.381C>T (p.Phe127=) c.438C>T (p.Phe146=) c.432C>T (p.Phe144=) | |
11 | g.128839863G>C | CA383245490 | KCNJ1 | c.381C>G (p.Phe127Leu) c.438C>G (p.Phe146Leu) c.432C>G (p.Phe144Leu) | |
11 | g.128839863G>T | CA383245492 | KCNJ1 | c.381C>A (p.Phe127Leu) c.438C>A (p.Phe146Leu) c.432C>A (p.Phe144Leu) | gnomAD v4 |
11 | g.128839864A>C | CA383245495 | KCNJ1 | c.380T>G (p.Phe127Cys) c.437T>G (p.Phe146Cys) c.431T>G (p.Phe144Cys) | |
11 | g.128839864A>G | CA383245500 | KCNJ1 | c.380T>C (p.Phe127Ser) c.437T>C (p.Phe146Ser) c.431T>C (p.Phe144Ser) | |
11 | g.128839864A>T | CA383245503 | KCNJ1 | c.380T>A (p.Phe127Tyr) c.437T>A (p.Phe146Tyr) c.431T>A (p.Phe144Tyr) | |
11 | g.128839865A>C | CA383245513 | KCNJ1 | c.379T>G (p.Phe127Val) c.436T>G (p.Phe146Val) c.430T>G (p.Phe144Val) | |
11 | g.128839865A>G | CA383245515 | KCNJ1 | c.379T>C (p.Phe127Leu) c.436T>C (p.Phe146Leu) c.430T>C (p.Phe144Leu) | |
11 | g.128839865A>T | CA383245522 | KCNJ1 | c.379T>A (p.Phe127Ile) c.436T>A (p.Phe146Ile) c.430T>A (p.Phe144Ile) | |
11 | g.128839866T>A | CA477703559 | KCNJ1 | c.378A>T (p.Gly126=) c.435A>T (p.Gly145=) c.429A>T (p.Gly143=) | |
11 | g.128839866T>C | CA477703558 | KCNJ1 | c.378A>G (p.Gly126=) c.435A>G (p.Gly145=) c.429A>G (p.Gly143=) | |
11 | g.128839866T>G | CA477703557 | KCNJ1 | c.378A>C (p.Gly126=) c.435A>C (p.Gly145=) c.429A>C (p.Gly143=) | |
11 | g.128839867C>A | CA383245526 | KCNJ1 | c.377G>T (p.Gly126Val) c.434G>T (p.Gly145Val) c.428G>T (p.Gly143Val) | |
11 | g.128839867C>G | CA383245531 | KCNJ1 | c.377G>C (p.Gly126Ala) c.434G>C (p.Gly145Ala) c.428G>C (p.Gly143Ala) | |
11 | g.128839867C>T | CA383245536 | KCNJ1 | c.377G>A (p.Gly126Glu) c.434G>A (p.Gly145Glu) c.428G>A (p.Gly143Glu) | |
11 | g.128839868C>A | CA383245548 | KCNJ1 | c.376G>T (p.Gly126Ter) c.433G>T (p.Gly145Ter) c.427G>T (p.Gly143Ter) | gnomAD v4 |
11 | g.128839868C= | CA2008251221 | KCNJ1 | c.376G= (p.Gly126=) c.433G= (p.Gly145=) c.427G= (p.Gly143=) | |
11 | g.128839868C>G | CA383245544 | KCNJ1 | c.376G>C (p.Gly126Arg) c.433G>C (p.Gly145Arg) c.427G>C (p.Gly143Arg) | gnomAD v4 |
11 | g.128839868C>T | CA383245541 | KCNJ1 | c.376G>A (p.Gly126Arg) c.433G>A (p.Gly145Arg) c.427G>A (p.Gly143Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839869A>C | CA383245553 | KCNJ1 | c.375T>G (p.Tyr125Ter) c.432T>G (p.Tyr144Ter) c.426T>G (p.Tyr142Ter) | |
11 | g.128839869A>G | CA477703563 | KCNJ1 | c.375T>C (p.Tyr125=) c.432T>C (p.Tyr144=) c.426T>C (p.Tyr142=) | |
11 | g.128839869A>T | CA383245555 | KCNJ1 | c.375T>A (p.Tyr125Ter) c.432T>A (p.Tyr144Ter) c.426T>A (p.Tyr142Ter) | |
11 | g.128839870T>A | CA383245560 | KCNJ1 | c.374A>T (p.Tyr125Phe) c.431A>T (p.Tyr144Phe) c.425A>T (p.Tyr142Phe) | gnomAD v4 |
11 | g.128839870T>C | CA383245566 | KCNJ1 | c.374A>G (p.Tyr125Cys) c.431A>G (p.Tyr144Cys) c.425A>G (p.Tyr142Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839870T>G | CA383245564 | KCNJ1 | c.374A>C (p.Tyr125Ser) c.431A>C (p.Tyr144Ser) c.425A>C (p.Tyr142Ser) | |
11 | g.128839870T= | CA2008251228 | KCNJ1 | c.374A= (p.Tyr125=) c.431A= (p.Tyr144=) c.425A= (p.Tyr142=) | |
11 | g.128839871A>C | CA383245570 | KCNJ1 | c.373T>G (p.Tyr125Asp) c.430T>G (p.Tyr144Asp) c.424T>G (p.Tyr142Asp) | |
11 | g.128839871A>G | CA383245579 | KCNJ1 | c.373T>C (p.Tyr125His) c.430T>C (p.Tyr144His) c.424T>C (p.Tyr142His) | |
11 | g.128839871A>T | CA383245581 | KCNJ1 | c.373T>A (p.Tyr125Asn) c.430T>A (p.Tyr144Asn) c.424T>A (p.Tyr142Asn) | |
11 | g.128839872T>A | CA477703565 | KCNJ1 | c.372A>T (p.Gly124=) c.429A>T (p.Gly143=) c.423A>T (p.Gly141=) | |
11 | g.128839872T>C | CA477703566 | KCNJ1 | c.372A>G (p.Gly124=) c.429A>G (p.Gly143=) c.423A>G (p.Gly141=) | |
11 | g.128839872T>G | CA477703567 | KCNJ1 | c.372A>C (p.Gly124=) c.429A>C (p.Gly143=) c.423A>C (p.Gly141=) | |
11 | g.128839873C>A | CA383245598 | KCNJ1 | c.371G>T (p.Gly124Val) c.428G>T (p.Gly143Val) c.422G>T (p.Gly141Val) | |
11 | g.128839873C= | CA2008251232 | KCNJ1 | c.371G= (p.Gly124=) c.428G= (p.Gly143=) c.422G= (p.Gly141=) | |
11 | g.128839873C>G | CA230628737 | KCNJ1 | c.371G>C (p.Gly124Ala) c.428G>C (p.Gly143Ala) c.422G>C (p.Gly141Ala) | dbSNP |
11 | g.128839873C>T | CA383245605 | KCNJ1 | c.371G>A (p.Gly124Glu) c.428G>A (p.Gly143Glu) c.422G>A (p.Gly141Glu) | |
11 | g.128839874C>A | CA383245611 | KCNJ1 | c.370G>T (p.Gly124Ter) c.427G>T (p.Gly143Ter) c.421G>T (p.Gly141Ter) | COSMIC |
11 | g.128839874C>G | CA383245615 | KCNJ1 | c.370G>C (p.Gly124Arg) c.427G>C (p.Gly143Arg) c.421G>C (p.Gly141Arg) | |
11 | g.128839874C>T | CA383245618 | KCNJ1 | c.370G>A (p.Gly124Arg) c.427G>A (p.Gly143Arg) c.421G>A (p.Gly141Arg) | |
11 | g.128839875A>C | CA383245622 | KCNJ1 | c.369T>G (p.Ile123Met) c.426T>G (p.Ile142Met) c.420T>G (p.Ile140Met) | |
11 | g.128839875A>G | CA477703570 | KCNJ1 | c.369T>C (p.Ile123=) c.426T>C (p.Ile142=) c.420T>C (p.Ile140=) | |
11 | g.128839875A>T | CA477703571 | KCNJ1 | c.369T>A (p.Ile123=) c.426T>A (p.Ile142=) c.420T>A (p.Ile140=) | |
11 | g.128839876A>C | CA383245623 | KCNJ1 | c.368T>G (p.Ile123Ser) c.425T>G (p.Ile142Ser) c.419T>G (p.Ile140Ser) | |
11 | g.128839876A>G | CA383245624 | KCNJ1 | c.368T>C (p.Ile123Thr) c.425T>C (p.Ile142Thr) c.419T>C (p.Ile140Thr) | |
11 | g.128839876A>T | CA383245625 | KCNJ1 | c.368T>A (p.Ile123Asn) c.425T>A (p.Ile142Asn) c.419T>A (p.Ile140Asn) | |
11 | g.128839877T>A | CA383245628 | KCNJ1 | c.367A>T (p.Ile123Phe) c.424A>T (p.Ile142Phe) c.418A>T (p.Ile140Phe) | |
11 | g.128839877T>C | CA383245635 | KCNJ1 | c.367A>G (p.Ile123Val) c.424A>G (p.Ile142Val) c.418A>G (p.Ile140Val) | |
11 | g.128839877T>G | CA383245632 | KCNJ1 | c.367A>C (p.Ile123Leu) c.424A>C (p.Ile142Leu) c.418A>C (p.Ile140Leu) | |
11 | g.128839878G>A | CA477703573 | KCNJ1 | c.366C>T (p.Thr122=) c.423C>T (p.Thr141=) c.417C>T (p.Thr139=) | |
11 | g.128839878G>C | CA477703575 | KCNJ1 | c.366C>G (p.Thr122=) c.423C>G (p.Thr141=) c.417C>G (p.Thr139=) | |
11 | g.128839878G>T | CA477703577 | KCNJ1 | c.366C>A (p.Thr122=) c.423C>A (p.Thr141=) c.417C>A (p.Thr139=) | |
11 | g.128839879G>A | CA6357529 | KCNJ1 | c.365C>T (p.Thr122Ile) c.422C>T (p.Thr141Ile) c.416C>T (p.Thr139Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839879G>C | CA383245645 | KCNJ1 | c.365C>G (p.Thr122Ser) c.422C>G (p.Thr141Ser) c.416C>G (p.Thr139Ser) | |
11 | g.128839879G= | CA2008251236 | KCNJ1 | c.365C= (p.Thr122=) c.422C= (p.Thr141=) c.416C= (p.Thr139=) | |
11 | g.128839879G>T | CA383245648 | KCNJ1 | c.365C>A (p.Thr122Asn) c.422C>A (p.Thr141Asn) c.416C>A (p.Thr139Asn) | |
11 | g.128839880T>A | CA383245657 | KCNJ1 | c.364A>T (p.Thr122Ser) c.421A>T (p.Thr141Ser) c.415A>T (p.Thr139Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839880T>C | CA383245658 | KCNJ1 | c.364A>G (p.Thr122Ala) c.421A>G (p.Thr141Ala) c.415A>G (p.Thr139Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839880T>G | CA383245659 | KCNJ1 | c.364A>C (p.Thr122Pro) c.421A>C (p.Thr141Pro) c.415A>C (p.Thr139Pro) | |
11 | g.128839880T= | CA2008251238 | KCNJ1 | c.364A= (p.Thr122=) c.421A= (p.Thr141=) c.415A= (p.Thr139=) | |
11 | g.128839881C>A | CA477703580 | KCNJ1 | c.363G>T (p.Val121=) c.420G>T (p.Val140=) c.414G>T (p.Val138=) | |
11 | g.128839881C= | CA2008251240 | KCNJ1 | c.363G= (p.Val121=) c.420G= (p.Val140=) c.414G= (p.Val138=) | |
11 | g.128839881C>G | CA477703581 | KCNJ1 | c.363G>C (p.Val121=) c.420G>C (p.Val140=) c.414G>C (p.Val138=) | |
11 | g.128839881C>T | CA6357530 | KCNJ1 | c.363G>A (p.Val121=) c.420G>A (p.Val140=) c.414G>A (p.Val138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839882A>C | CA383245663 | KCNJ1 | c.362T>G (p.Val121Gly) c.419T>G (p.Val140Gly) c.413T>G (p.Val138Gly) | |
11 | g.128839882A>G | CA383245668 | KCNJ1 | c.362T>C (p.Val121Ala) c.419T>C (p.Val140Ala) c.413T>C (p.Val138Ala) | |
11 | g.128839882A>T | CA383245671 | KCNJ1 | c.362T>A (p.Val121Glu) c.419T>A (p.Val140Glu) c.413T>A (p.Val138Glu) | |
11 | g.128839883C>A | CA383245678 | KCNJ1 | c.361G>T (p.Val121Leu) c.418G>T (p.Val140Leu) c.412G>T (p.Val138Leu) | gnomAD v4 |
11 | g.128839883C= | CA2008251252 | KCNJ1 | c.361G= (p.Val121=) c.418G= (p.Val140=) c.412G= (p.Val138=) | |
11 | g.128839883C>G | CA383245677 | KCNJ1 | c.361G>C (p.Val121Leu) c.418G>C (p.Val140Leu) c.412G>C (p.Val138Leu) | |
11 | g.128839883C>T | CA383245675 | KCNJ1 | c.361G>A (p.Val121Met) c.418G>A (p.Val140Met) c.412G>A (p.Val138Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839884T>A | CA383245682 | KCNJ1 | c.360A>T (p.Gln120His) c.417A>T (p.Gln139His) c.411A>T (p.Gln137His) | |
11 | g.128839884T>C | CA477703583 | KCNJ1 | c.360A>G (p.Gln120=) c.417A>G (p.Gln139=) c.411A>G (p.Gln137=) | |
11 | g.128839884T>G | CA383245685 | KCNJ1 | c.360A>C (p.Gln120His) c.417A>C (p.Gln139His) c.411A>C (p.Gln137His) | |
11 | g.128839885T>A | CA383245690 | KCNJ1 | c.359A>T (p.Gln120Leu) c.416A>T (p.Gln139Leu) c.410A>T (p.Gln137Leu) | |
11 | g.128839885T>C | CA383245693 | KCNJ1 | c.359A>G (p.Gln120Arg) c.416A>G (p.Gln139Arg) c.410A>G (p.Gln137Arg) | |
11 | g.128839885T>G | CA383245696 | KCNJ1 | c.359A>C (p.Gln120Pro) c.416A>C (p.Gln139Pro) c.410A>C (p.Gln137Pro) | |
11 | g.128839886G>A | CA383245699 | KCNJ1 | c.358C>T (p.Gln120Ter) c.415C>T (p.Gln139Ter) c.409C>T (p.Gln137Ter) | |
11 | g.128839886G>C | CA383245701 | KCNJ1 | c.358C>G (p.Gln120Glu) c.415C>G (p.Gln139Glu) c.409C>G (p.Gln137Glu) | |
11 | g.128839886G>T | CA383245709 | KCNJ1 | c.358C>A (p.Gln120Lys) c.415C>A (p.Gln139Lys) c.409C>A (p.Gln137Lys) | |
11 | g.128839887A>C | CA477703585 | KCNJ1 | c.357T>G (p.Thr119=) c.414T>G (p.Thr138=) c.408T>G (p.Thr136=) | |
11 | g.128839887A>G | CA477703586 | KCNJ1 | c.357T>C (p.Thr119=) c.414T>C (p.Thr138=) c.408T>C (p.Thr136=) | gnomAD v4 |
11 | g.128839887A>T | CA477703587 | KCNJ1 | c.357T>A (p.Thr119=) c.414T>A (p.Thr138=) c.408T>A (p.Thr136=) | |
11 | g.128839888G>A | CA383245714 | KCNJ1 | c.356C>T (p.Thr119Ile) c.413C>T (p.Thr138Ile) c.407C>T (p.Thr136Ile) | |
11 | g.128839888G>C | CA383245715 | KCNJ1 | c.356C>G (p.Thr119Ser) c.413C>G (p.Thr138Ser) c.407C>G (p.Thr136Ser) | |
11 | g.128839888G>T | CA383245718 | KCNJ1 | c.356C>A (p.Thr119Asn) c.413C>A (p.Thr138Asn) c.407C>A (p.Thr136Asn) | |
11 | g.128839889T>A | CA383245719 | KCNJ1 | c.355A>T (p.Thr119Ser) c.412A>T (p.Thr138Ser) c.406A>T (p.Thr136Ser) | |
11 | g.128839889T>C | CA383245720 | KCNJ1 | c.355A>G (p.Thr119Ala) c.412A>G (p.Thr138Ala) c.406A>G (p.Thr136Ala) | |
11 | g.128839889T>G | CA383245724 | KCNJ1 | c.355A>C (p.Thr119Pro) c.412A>C (p.Thr138Pro) c.406A>C (p.Thr136Pro) | |
11 | g.128839890C>A | CA383245729 | KCNJ1 | c.354G>T (p.Glu118Asp) c.411G>T (p.Glu137Asp) c.405G>T (p.Glu135Asp) | ClinVar dbSNP |
11 | g.128839890C= | CA2008251260 | KCNJ1 | c.354G= (p.Glu118=) c.411G= (p.Glu137=) c.405G= (p.Glu135=) | |
11 | g.128839890C>G | CA383245731 | KCNJ1 | c.354G>C (p.Glu118Asp) c.411G>C (p.Glu137Asp) c.405G>C (p.Glu135Asp) | |
11 | g.128839890C>T | CA477703592 | KCNJ1 | c.354G>A (p.Glu118=) c.411G>A (p.Glu137=) c.405G>A (p.Glu135=) | |
11 | g.128839891T>A | CA383245736 | KCNJ1 | c.353A>T (p.Glu118Val) c.410A>T (p.Glu137Val) c.404A>T (p.Glu135Val) | |
11 | g.128839891T>C | CA383245737 | KCNJ1 | c.353A>G (p.Glu118Gly) c.410A>G (p.Glu137Gly) c.404A>G (p.Glu135Gly) | |
11 | g.128839891T>G | CA383245742 | KCNJ1 | c.353A>C (p.Glu118Ala) c.410A>C (p.Glu137Ala) c.404A>C (p.Glu135Ala) | |
11 | g.128839892C>A | CA383245746 | KCNJ1 | c.352G>T (p.Glu118Ter) c.409G>T (p.Glu137Ter) c.403G>T (p.Glu135Ter) | |
11 | g.128839892C>G | CA383245749 | KCNJ1 | c.352G>C (p.Glu118Gln) c.409G>C (p.Glu137Gln) c.403G>C (p.Glu135Gln) | |
11 | g.128839892C>T | CA383245750 | KCNJ1 | c.352G>A (p.Glu118Lys) c.409G>A (p.Glu137Lys) c.403G>A (p.Glu135Lys) | |
11 | g.128839893C>A | CA477703594 | KCNJ1 | c.351G>T (p.Leu117=) c.408G>T (p.Leu136=) c.402G>T (p.Leu134=) | |
11 | g.128839893C>G | CA477703595 | KCNJ1 | c.351G>C (p.Leu117=) c.408G>C (p.Leu136=) c.402G>C (p.Leu134=) | |
11 | g.128839893C>T | CA477703596 | KCNJ1 | c.351G>A (p.Leu117=) c.408G>A (p.Leu136=) c.402G>A (p.Leu134=) | |
11 | g.128839894A>C | CA383245751 | KCNJ1 | c.350T>G (p.Leu117Arg) c.407T>G (p.Leu136Arg) c.401T>G (p.Leu134Arg) | |
11 | g.128839894A>G | CA383245753 | KCNJ1 | c.350T>C (p.Leu117Pro) c.407T>C (p.Leu136Pro) c.401T>C (p.Leu134Pro) | |
11 | g.128839894A>T | CA383245754 | KCNJ1 | c.350T>A (p.Leu117Gln) c.407T>A (p.Leu136Gln) c.401T>A (p.Leu134Gln) | |
11 | g.128839895G>A | CA477703597 | KCNJ1 | c.349C>T (p.Leu117=) c.406C>T (p.Leu136=) c.400C>T (p.Leu134=) | ClinVar gnomAD v4 |
11 | g.128839895G>C | CA383245755 | KCNJ1 | c.349C>G (p.Leu117Val) c.406C>G (p.Leu136Val) c.400C>G (p.Leu134Val) | |
11 | g.128839895G>T | CA383245756 | KCNJ1 | c.349C>A (p.Leu117Met) c.406C>A (p.Leu136Met) c.400C>A (p.Leu134Met) | |
11 | g.128839896A>C | CA477703598 | KCNJ1 | c.348T>G (p.Ser116=) c.405T>G (p.Ser135=) c.399T>G (p.Ser133=) | |
11 | g.128839896A>G | CA477703599 | KCNJ1 | c.348T>C (p.Ser116=) c.405T>C (p.Ser135=) c.399T>C (p.Ser133=) | |
11 | g.128839896A>T | CA477703600 | KCNJ1 | c.348T>A (p.Ser116=) c.405T>A (p.Ser135=) c.399T>A (p.Ser133=) | |
11 | g.128839897G>A | CA383245760 | KCNJ1 | c.347C>T (p.Ser116Phe) c.404C>T (p.Ser135Phe) c.398C>T (p.Ser133Phe) | |
11 | g.128839897G>C | CA383245759 | KCNJ1 | c.347C>G (p.Ser116Cys) c.404C>G (p.Ser135Cys) c.398C>G (p.Ser133Cys) | |
11 | g.128839897G>T | CA383245758 | KCNJ1 | c.347C>A (p.Ser116Tyr) c.404C>A (p.Ser135Tyr) c.398C>A (p.Ser133Tyr) | |
11 | g.128839898A>C | CA383245762 | KCNJ1 | c.346T>G (p.Ser116Ala) c.403T>G (p.Ser135Ala) c.397T>G (p.Ser133Ala) | |
11 | g.128839898A>G | CA383245764 | KCNJ1 | c.346T>C (p.Ser116Pro) c.403T>C (p.Ser135Pro) c.397T>C (p.Ser133Pro) | |
11 | g.128839898A>T | CA383245766 | KCNJ1 | c.346T>A (p.Ser116Thr) c.403T>A (p.Ser135Thr) c.397T>A (p.Ser133Thr) | |
11 | g.128839899A>C | CA383245775 | KCNJ1 | c.345T>G (p.Phe115Leu) c.402T>G (p.Phe134Leu) c.396T>G (p.Phe132Leu) | |
11 | g.128839899A>G | CA477703601 | KCNJ1 | c.345T>C (p.Phe115=) c.402T>C (p.Phe134=) c.396T>C (p.Phe132=) | |
11 | g.128839899A>T | CA383245778 | KCNJ1 | c.345T>A (p.Phe115Leu) c.402T>A (p.Phe134Leu) c.396T>A (p.Phe132Leu) | |
11 | g.128839900A>C | CA383245785 | KCNJ1 | c.344T>G (p.Phe115Cys) c.401T>G (p.Phe134Cys) c.395T>G (p.Phe132Cys) | |
11 | g.128839900A>G | CA383245791 | KCNJ1 | c.344T>C (p.Phe115Ser) c.401T>C (p.Phe134Ser) c.395T>C (p.Phe132Ser) | |
11 | g.128839900A>T | CA383245795 | KCNJ1 | c.344T>A (p.Phe115Tyr) c.401T>A (p.Phe134Tyr) c.395T>A (p.Phe132Tyr) | |
11 | g.128839901A>C | CA383245803 | KCNJ1 | c.343T>G (p.Phe115Val) c.400T>G (p.Phe134Val) c.394T>G (p.Phe132Val) | |
11 | g.128839901A>G | CA383245806 | KCNJ1 | c.343T>C (p.Phe115Leu) c.400T>C (p.Phe134Leu) c.394T>C (p.Phe132Leu) | |
11 | g.128839901A>T | CA383245815 | KCNJ1 | c.343T>A (p.Phe115Ile) c.400T>A (p.Phe134Ile) c.394T>A (p.Phe132Ile) | |
11 | g.128839902C>A | CA477703604 | KCNJ1 | c.342G>T (p.Leu114=) c.399G>T (p.Leu133=) c.393G>T (p.Leu131=) | |
11 | g.128839902C= | CA2008251264 | KCNJ1 | c.342G= (p.Leu114=) c.399G= (p.Leu133=) c.393G= (p.Leu131=) | |
11 | g.128839902C>G | CA477703606 | KCNJ1 | c.342G>C (p.Leu114=) c.399G>C (p.Leu133=) c.393G>C (p.Leu131=) | |
11 | g.128839902C>T | CA477703607 | KCNJ1 | c.342G>A (p.Leu114=) c.399G>A (p.Leu133=) c.393G>A (p.Leu131=) | dbSNP gnomAD v4 |
11 | g.128839903A>C | CA383245817 | KCNJ1 | c.341T>G (p.Leu114Arg) c.398T>G (p.Leu133Arg) c.392T>G (p.Leu131Arg) | gnomAD v4 |
11 | g.128839903A>G | CA383245821 | KCNJ1 | c.341T>C (p.Leu114Pro) c.398T>C (p.Leu133Pro) c.392T>C (p.Leu131Pro) | |
11 | g.128839903A>T | CA383245823 | KCNJ1 | c.341T>A (p.Leu114Gln) c.398T>A (p.Leu133Gln) c.392T>A (p.Leu131Gln) | |
11 | g.128839904G>A | CA477703608 | KCNJ1 | c.340C>T (p.Leu114=) c.397C>T (p.Leu133=) c.391C>T (p.Leu131=) | |
11 | g.128839904G>C | CA383245831 | KCNJ1 | c.340C>G (p.Leu114Val) c.397C>G (p.Leu133Val) c.391C>G (p.Leu131Val) | |
11 | g.128839904G>T | CA383245828 | KCNJ1 | c.340C>A (p.Leu114Met) c.397C>A (p.Leu133Met) c.391C>A (p.Leu131Met) | |
11 | g.128839905A= | CA2008251268 | KCNJ1 | c.339T= (p.Phe113=) c.396T= (p.Phe132=) c.390T= (p.Phe130=) | |
11 | g.128839905A>C | CA383245838 | KCNJ1 | c.339T>G (p.Phe113Leu) c.396T>G (p.Phe132Leu) c.390T>G (p.Phe130Leu) | dbSNP gnomAD v4 |
11 | g.128839905A>G | CA477703609 | KCNJ1 | c.339T>C (p.Phe113=) c.396T>C (p.Phe132=) c.390T>C (p.Phe130=) | |
11 | g.128839905A>T | CA383245841 | KCNJ1 | c.339T>A (p.Phe113Leu) c.396T>A (p.Phe132Leu) c.390T>A (p.Phe130Leu) | |
11 | g.128839906A= | CA2008251271 | KCNJ1 | c.338T= (p.Phe113=) c.395T= (p.Phe132=) c.389T= (p.Phe130=) | |
11 | g.128839906A>C | CA383245845 | KCNJ1 | c.338T>G (p.Phe113Cys) c.395T>G (p.Phe132Cys) c.389T>G (p.Phe130Cys) | |
11 | g.128839906A>G | CA383245848 | KCNJ1 | c.338T>C (p.Phe113Ser) c.395T>C (p.Phe132Ser) c.389T>C (p.Phe130Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839906A>T | CA383245852 | KCNJ1 | c.338T>A (p.Phe113Tyr) c.395T>A (p.Phe132Tyr) c.389T>A (p.Phe130Tyr) | |
11 | g.128839907A= | CA2008251272 | KCNJ1 | c.337T= (p.Phe113=) c.394T= (p.Phe132=) c.388T= (p.Phe130=) | |
11 | g.128839907A>C | CA383245863 | KCNJ1 | c.337T>G (p.Phe113Val) c.394T>G (p.Phe132Val) c.388T>G (p.Phe130Val) | |
11 | g.128839907A>G | CA6357531 | KCNJ1 | c.337T>C (p.Phe113Leu) c.394T>C (p.Phe132Leu) c.388T>C (p.Phe130Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839907A>T | CA383245858 | KCNJ1 | c.337T>A (p.Phe113Ile) c.394T>A (p.Phe132Ile) c.388T>A (p.Phe130Ile) | |
11 | g.128839908A>C | CA477703613 | KCNJ1 | c.336T>G (p.Ala112=) c.393T>G (p.Ala131=) c.387T>G (p.Ala129=) | |
11 | g.128839908A>G | CA477703614 | KCNJ1 | c.336T>C (p.Ala112=) c.393T>C (p.Ala131=) c.387T>C (p.Ala129=) | |
11 | g.128839908A>T | CA477703615 | KCNJ1 | c.336T>A (p.Ala112=) c.393T>A (p.Ala131=) c.387T>A (p.Ala129=) | |
11 | g.128839909G>A | CA383245867 | KCNJ1 | c.335C>T (p.Ala112Val) c.392C>T (p.Ala131Val) c.386C>T (p.Ala129Val) | |
11 | g.128839909G>C | CA383245871 | KCNJ1 | c.335C>G (p.Ala112Gly) c.392C>G (p.Ala131Gly) c.386C>G (p.Ala129Gly) | gnomAD v4 |
11 | g.128839909G>T | CA383245874 | KCNJ1 | c.335C>A (p.Ala112Asp) c.392C>A (p.Ala131Asp) c.386C>A (p.Ala129Asp) | |
11 | g.128839910C>A | CA383245879 | KCNJ1 | c.334G>T (p.Ala112Ser) c.391G>T (p.Ala131Ser) c.385G>T (p.Ala129Ser) | |
11 | g.128839910C>G | CA383245882 | KCNJ1 | c.334G>C (p.Ala112Pro) c.391G>C (p.Ala131Pro) c.385G>C (p.Ala129Pro) | |
11 | g.128839910C>T | CA383245886 | KCNJ1 | c.334G>A (p.Ala112Thr) c.391G>A (p.Ala131Thr) c.385G>A (p.Ala129Thr) | |
11 | g.128839911T>A | CA477703620 | KCNJ1 | c.333A>T (p.Ser111=) c.390A>T (p.Ser130=) c.384A>T (p.Ser128=) | |
11 | g.128839911T>C | CA477703621 | KCNJ1 | c.333A>G (p.Ser111=) c.390A>G (p.Ser130=) c.384A>G (p.Ser128=) | |
11 | g.128839911T>G | CA477703623 | KCNJ1 | c.333A>C (p.Ser111=) c.390A>C (p.Ser130=) c.384A>C (p.Ser128=) | dbSNP |
11 | g.128839911T= | CA2008251276 | KCNJ1 | c.333A= (p.Ser111=) c.390A= (p.Ser130=) c.384A= (p.Ser128=) | |
11 | g.128839912G>A | CA383245892 | KCNJ1 | c.332C>T (p.Ser111Leu) c.389C>T (p.Ser130Leu) c.383C>T (p.Ser128Leu) | |
11 | g.128839912G>C | CA383245897 | KCNJ1 | c.332C>G (p.Ser111Ter) c.389C>G (p.Ser130Ter) c.383C>G (p.Ser128Ter) | |
11 | g.128839912G>T | CA383245894 | KCNJ1 | c.332C>A (p.Ser111Ter) c.389C>A (p.Ser130Ter) c.383C>A (p.Ser128Ter) | |
11 | g.128839913A>C | CA383245904 | KCNJ1 | c.331T>G (p.Ser111Ala) c.388T>G (p.Ser130Ala) c.382T>G (p.Ser128Ala) | |
11 | g.128839913A>G | CA383245906 | KCNJ1 | c.331T>C (p.Ser111Pro) c.388T>C (p.Ser130Pro) c.382T>C (p.Ser128Pro) | |
11 | g.128839913A>T | CA383245911 | KCNJ1 | c.331T>A (p.Ser111Thr) c.388T>A (p.Ser130Thr) c.382T>A (p.Ser128Thr) | |
11 | g.128839914G>A | CA230628761 | KCNJ1 | c.330C>T (p.Thr110=) c.387C>T (p.Thr129=) c.381C>T (p.Thr127=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839914G>C | CA477703031 | KCNJ1 | c.330C>G (p.Thr110=) c.387C>G (p.Thr129=) c.381C>G (p.Thr127=) | |
11 | g.128839914G= | CA2008251277 | KCNJ1 | c.330C= (p.Thr110=) c.387C= (p.Thr129=) c.381C= (p.Thr127=) | |
11 | g.128839914G>T | CA477703032 | KCNJ1 | c.330C>A (p.Thr110=) c.387C>A (p.Thr129=) c.381C>A (p.Thr127=) | |
11 | g.128839915G>A | CA6357532 | KCNJ1 | c.329C>T (p.Thr110Ile) c.386C>T (p.Thr129Ile) c.380C>T (p.Thr127Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839915G>C | CA383245940 | KCNJ1 | c.329C>G (p.Thr110Ser) c.386C>G (p.Thr129Ser) c.380C>G (p.Thr127Ser) | |
11 | g.128839915G= | CA2008251280 | KCNJ1 | c.329C= (p.Thr110=) c.386C= (p.Thr129=) c.380C= (p.Thr127=) | |
11 | g.128839915G>T | CA383245942 | KCNJ1 | c.329C>A (p.Thr110Asn) c.386C>A (p.Thr129Asn) c.380C>A (p.Thr127Asn) | |
11 | g.128839916T>A | CA383245944 | KCNJ1 | c.328A>T (p.Thr110Ser) c.385A>T (p.Thr129Ser) c.379A>T (p.Thr127Ser) | gnomAD v4 |
11 | g.128839916T>C | CA6357533 | KCNJ1 | c.328A>G (p.Thr110Ala) c.385A>G (p.Thr129Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839916T>G | CA383245950 | KCNJ1 | c.328A>C (p.Thr110Pro) c.385A>C (p.Thr129Pro) c.379A>C (p.Thr127Pro) | |
11 | g.128839916T= | CA2008251285 | KCNJ1 | c.328A= (p.Thr110=) c.385A= (p.Thr129=) c.379A= (p.Thr127=) | |
11 | g.128839917C>A | CA383245956 | KCNJ1 | c.327G>T (p.Leu109Phe) c.384G>T (p.Leu128Phe) c.378G>T (p.Leu126Phe) | dbSNP gnomAD v2 |
11 | g.128839917C= | CA2008251286 | KCNJ1 | c.327G= (p.Leu109=) c.384G= (p.Leu128=) c.378G= (p.Leu126=) | |
11 | g.128839917C>G | CA383245964 | KCNJ1 | c.327G>C (p.Leu109Phe) c.384G>C (p.Leu128Phe) c.378G>C (p.Leu126Phe) | |
11 | g.128839917C>T | CA477703035 | KCNJ1 | c.327G>A (p.Leu109=) c.384G>A (p.Leu128=) c.378G>A (p.Leu126=) | |
11 | g.128839918A= | CA2008251287 | KCNJ1 | c.326T= (p.Leu109=) c.383T= (p.Leu128=) c.377T= (p.Leu126=) | |
11 | g.128839918A>C | CA383245967 | KCNJ1 | c.326T>G (p.Leu109Trp) c.383T>G (p.Leu128Trp) c.377T>G (p.Leu126Trp) | |
11 | g.128839918A>G | CA383245968 | KCNJ1 | c.326T>C (p.Leu109Ser) c.383T>C (p.Leu128Ser) c.377T>C (p.Leu126Ser) | dbSNP gnomAD v2 |
11 | g.128839918A>T | CA383245969 | KCNJ1 | c.326T>A (p.Leu109Ter) c.383T>A (p.Leu128Ter) c.377T>A (p.Leu126Ter) | |
11 | g.128839919A>C | CA383245971 | KCNJ1 | c.325T>G (p.Leu109Val) c.382T>G (p.Leu128Val) c.376T>G (p.Leu126Val) | |
11 | g.128839919A>G | CA477703039 | KCNJ1 | c.325T>C (p.Leu109=) c.382T>C (p.Leu128=) c.376T>C (p.Leu126=) | |
11 | g.128839919A>T | CA383245974 | KCNJ1 | c.325T>A (p.Leu109Met) c.382T>A (p.Leu128Met) c.376T>A (p.Leu126Met) | |
11 | g.128839920G>A | CA477703042 | KCNJ1 | c.324C>T (p.Gly108=) c.381C>T (p.Gly127=) c.375C>T (p.Gly125=) | gnomAD v4 |
11 | g.128839920G>C | CA477703040 | KCNJ1 | c.324C>G (p.Gly108=) c.381C>G (p.Gly127=) c.375C>G (p.Gly125=) | |
11 | g.128839920G>T | CA477703041 | KCNJ1 | c.324C>A (p.Gly108=) c.381C>A (p.Gly127=) c.375C>A (p.Gly125=) | |
11 | g.128839921C>A | CA383245986 | KCNJ1 | c.323G>T (p.Gly108Val) c.380G>T (p.Gly127Val) c.374G>T (p.Gly125Val) | |
11 | g.128839921C= | CA2008251290 | KCNJ1 | c.323G= (p.Gly108=) c.380G= (p.Gly127=) c.374G= (p.Gly125=) | |
11 | g.128839921C>G | CA383245988 | KCNJ1 | c.323G>C (p.Gly108Ala) c.380G>C (p.Gly127Ala) c.374G>C (p.Gly125Ala) | |
11 | g.128839921C>T | CA383245991 | KCNJ1 | c.323G>A (p.Gly108Asp) c.380G>A (p.Gly127Asp) c.374G>A (p.Gly125Asp) | dbSNP gnomAD v4 |
11 | g.128839922C>A | CA383245995 | KCNJ1 | c.322G>T (p.Gly108Cys) c.379G>T (p.Gly127Cys) c.373G>T (p.Gly125Cys) | |
11 | g.128839922C= | CA2008251293 | KCNJ1 | c.322G= (p.Gly108=) c.379G= (p.Gly127=) c.373G= (p.Gly125=) | |
11 | g.128839922C>G | CA383245999 | KCNJ1 | c.322G>C (p.Gly108Arg) c.379G>C (p.Gly127Arg) c.373G>C (p.Gly125Arg) | |
11 | g.128839922C>T | CA6357534 | KCNJ1 | c.322G>A (p.Gly108Ser) c.379G>A (p.Gly127Ser) c.373G>A (p.Gly125Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839923A= | CA2008251297 | KCNJ1 | c.321T= (p.Asn107=) c.378T= (p.Asn126=) c.372T= (p.Asn124=) | |
11 | g.128839923A>C | CA383246012 | KCNJ1 | c.321T>G (p.Asn107Lys) c.378T>G (p.Asn126Lys) c.372T>G (p.Asn124Lys) | |
11 | g.128839923A>G | CA230628778 | KCNJ1 | c.321T>C (p.Asn107=) c.378T>C (p.Asn126=) c.372T>C (p.Asn124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839923A>T | CA383246014 | KCNJ1 | c.321T>A (p.Asn107Lys) c.378T>A (p.Asn126Lys) c.372T>A (p.Asn124Lys) | |
11 | g.128839924T>A | CA383246017 | KCNJ1 | c.320A>T (p.Asn107Ile) c.377A>T (p.Asn126Ile) c.371A>T (p.Asn124Ile) | |
11 | g.128839924T>C | CA383246019 | KCNJ1 | c.320A>G (p.Asn107Ser) c.377A>G (p.Asn126Ser) c.371A>G (p.Asn124Ser) | |
11 | g.128839924T>G | CA383246022 | KCNJ1 | c.320A>C (p.Asn107Thr) c.377A>C (p.Asn126Thr) c.371A>C (p.Asn124Thr) | |
11 | g.128839925T>A | CA383246034 | KCNJ1 | c.319A>T (p.Asn107Tyr) c.376A>T (p.Asn126Tyr) c.370A>T (p.Asn124Tyr) | dbSNP gnomAD v4 |
11 | g.128839925T>C | CA383246031 | KCNJ1 | c.319A>G (p.Asn107Asp) c.376A>G (p.Asn126Asp) c.370A>G (p.Asn124Asp) | |
11 | g.128839925T>G | CA383246027 | KCNJ1 | c.319A>C (p.Asn107His) c.376A>C (p.Asn126His) c.370A>C (p.Asn124His) | |
11 | g.128839925T= | CA2008251301 | KCNJ1 | c.319A= (p.Asn107=) c.376A= (p.Asn126=) c.370A= (p.Asn124=) | |
11 | g.128839926A= | CA2008251304 | KCNJ1 | c.318T= (p.Ile106=) c.375T= (p.Ile125=) c.369T= (p.Ile123=) | |
11 | g.128839926A>C | CA383246038 | KCNJ1 | c.318T>G (p.Ile106Met) c.375T>G (p.Ile125Met) c.369T>G (p.Ile123Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839926A>G | CA477703048 | KCNJ1 | c.318T>C (p.Ile106=) c.375T>C (p.Ile125=) c.369T>C (p.Ile123=) | dbSNP gnomAD v4 |
11 | g.128839926A>T | CA477703049 | KCNJ1 | c.318T>A (p.Ile106=) c.375T>A (p.Ile125=) c.369T>A (p.Ile123=) | |
11 | g.128839927A>C | CA383246046 | KCNJ1 | c.317T>G (p.Ile106Ser) c.374T>G (p.Ile125Ser) c.368T>G (p.Ile123Ser) | |
11 | g.128839927A>G | CA383246041 | KCNJ1 | c.317T>C (p.Ile106Thr) c.374T>C (p.Ile125Thr) c.368T>C (p.Ile123Thr) | |
11 | g.128839927A>T | CA383246047 | KCNJ1 | c.317T>A (p.Ile106Asn) c.374T>A (p.Ile125Asn) c.368T>A (p.Ile123Asn) | |
11 | g.128839927_128839930delinsATAT | CA2008251307 | KCNJ1 | c.314_317delinsATAT (p.Asn105=) c.371_374delinsATAT (p.Asn124=) c.365_368delinsATAT (p.Asn122=) | |
11 | g.128839928T>A | CA383246048 | KCNJ1 | c.316A>T (p.Ile106Phe) c.373A>T (p.Ile125Phe) c.367A>T (p.Ile123Phe) | |
11 | g.128839928T>C | CA383246049 | KCNJ1 | c.316A>G (p.Ile106Val) c.373A>G (p.Ile125Val) c.367A>G (p.Ile123Val) | gnomAD v4 |
11 | g.128839928T>G | CA383246052 | KCNJ1 | c.316A>C (p.Ile106Leu) c.373A>C (p.Ile125Leu) c.367A>C (p.Ile123Leu) | |
11 | g.128839929_128839931del | CA602585822 | KCNJ1 | c.314_316del (p.Asn105del) c.371_373del (p.Asn124del) c.365_367del (p.Asn122del) | dbSNP gnomAD v2 |
11 | g.128839929A= | CA2008251317 | KCNJ1 | c.315T= (p.Asn105=) c.372T= (p.Asn124=) c.366T= (p.Asn122=) | |
11 | g.128839929A>C | CA383246056 | KCNJ1 | c.315T>G (p.Asn105Lys) c.372T>G (p.Asn124Lys) c.366T>G (p.Asn122Lys) | |
11 | g.128839929A>G | CA230628785 | KCNJ1 | c.315T>C (p.Asn105=) c.372T>C (p.Asn124=) c.366T>C (p.Asn122=) | ClinVar dbSNP |
11 | g.128839929A>T | CA120164 | KCNJ1 | c.315T>A (p.Asn105Lys) c.372T>A (p.Asn124Lys) c.366T>A (p.Asn122Lys) | ClinVar dbSNP |
11 | g.128839930T>A | CA383246057 | KCNJ1 | c.314A>T (p.Asn105Ile) c.371A>T (p.Asn124Ile) c.365A>T (p.Asn122Ile) | |
11 | g.128839930T>C | CA383246060 | KCNJ1 | c.314A>G (p.Asn105Ser) c.371A>G (p.Asn124Ser) c.365A>G (p.Asn122Ser) | dbSNP |
11 | g.128839930T>G | CA383246062 | KCNJ1 | c.314A>C (p.Asn105Thr) c.371A>C (p.Asn124Thr) c.365A>C (p.Asn122Thr) | |
11 | g.128839930T= | CA2008251321 | KCNJ1 | c.314A= (p.Asn105=) c.371A= (p.Asn124=) c.365A= (p.Asn122=) | |
11 | g.128839931T>A | CA383246063 | KCNJ1 | c.313A>T (p.Asn105Tyr) c.370A>T (p.Asn124Tyr) c.364A>T (p.Asn122Tyr) | |
11 | g.128839931T>C | CA383246064 | KCNJ1 | c.313A>G (p.Asn105Asp) c.370A>G (p.Asn124Asp) c.364A>G (p.Asn122Asp) | dbSNP |
11 | g.128839931T>G | CA383246065 | KCNJ1 | c.313A>C (p.Asn105His) c.370A>C (p.Asn124His) c.364A>C (p.Asn122His) | |
11 | g.128839931T= | CA2008251327 | KCNJ1 | c.313A= (p.Asn105=) c.370A= (p.Asn124=) c.364A= (p.Asn122=) | |
11 | g.128839932C>A | CA383246071 | KCNJ1 | c.312G>T (p.Glu104Asp) c.369G>T (p.Glu123Asp) c.363G>T (p.Glu121Asp) | |
11 | g.128839932C>G | CA383246068 | KCNJ1 | c.312G>C (p.Glu104Asp) c.369G>C (p.Glu123Asp) c.363G>C (p.Glu121Asp) | |
11 | g.128839932C>T | CA477703052 | KCNJ1 | c.312G>A (p.Glu104=) c.369G>A (p.Glu123=) c.363G>A (p.Glu121=) | |
11 | g.128839933T>A | CA383246074 | KCNJ1 | c.311A>T (p.Glu104Val) c.368A>T (p.Glu123Val) c.362A>T (p.Glu121Val) | |
11 | g.128839933T>C | CA383246076 | KCNJ1 | c.311A>G (p.Glu104Gly) c.368A>G (p.Glu123Gly) c.362A>G (p.Glu121Gly) | |
11 | g.128839933T>G | CA383246079 | KCNJ1 | c.311A>C (p.Glu104Ala) c.368A>C (p.Glu123Ala) c.362A>C (p.Glu121Ala) |