Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839560del | CA2616771383 | KCNJ1 | c.684del (p.Asn229IlefsTer5) c.741del (p.Asn248IlefsTer5) c.735del (p.Asn246IlefsTer5) | gnomAD v4 |
11 | g.128839560G>A | CA477703156 | KCNJ1 | c.684C>T (p.Ile228=) c.741C>T (p.Ile247=) c.735C>T (p.Ile245=) | |
11 | g.128839560G>C | CA383244371 | KCNJ1 | c.684C>G (p.Ile228Met) c.741C>G (p.Ile247Met) c.735C>G (p.Ile245Met) | |
11 | g.128839560G>T | CA477703157 | KCNJ1 | c.684C>A (p.Ile228=) c.741C>A (p.Ile247=) c.735C>A (p.Ile245=) | |
11 | g.128839561A= | CA2008286700 | KCNJ1 | c.683T= (p.Ile228=) c.740T= (p.Ile247=) c.734T= (p.Ile245=) | |
11 | g.128839561A>C | CA383244374 | KCNJ1 | c.683T>G (p.Ile228Ser) c.740T>G (p.Ile247Ser) c.734T>G (p.Ile245Ser) | |
11 | g.128839561A>G | CA6357474 | KCNJ1 | c.683T>C (p.Ile228Thr) c.740T>C (p.Ile247Thr) c.734T>C (p.Ile245Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839561A>T | CA383244378 | KCNJ1 | c.683T>A (p.Ile228Asn) c.740T>A (p.Ile247Asn) c.734T>A (p.Ile245Asn) | |
11 | g.128839562T>A | CA383244383 | KCNJ1 | c.682A>T (p.Ile228Phe) c.739A>T (p.Ile247Phe) c.733A>T (p.Ile245Phe) | |
11 | g.128839562T>C | CA230628303 | KCNJ1 | c.682A>G (p.Ile228Val) c.739A>G (p.Ile247Val) c.733A>G (p.Ile245Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839562T>G | CA383244382 | KCNJ1 | c.682A>C (p.Ile228Leu) c.739A>C (p.Ile247Leu) c.733A>C (p.Ile245Leu) | |
11 | g.128839562T= | CA2008286702 | KCNJ1 | c.682A= (p.Ile228=) c.739A= (p.Ile247=) c.733A= (p.Ile245=) | |
11 | g.128839563C>A | CA383244386 | KCNJ1 | c.681G>T (p.Gln227His) c.738G>T (p.Gln246His) c.732G>T (p.Gln244His) | |
11 | g.128839563C>G | CA383244387 | KCNJ1 | c.681G>C (p.Gln227His) c.738G>C (p.Gln246His) c.732G>C (p.Gln244His) | gnomAD v4 |
11 | g.128839563C>T | CA477703160 | KCNJ1 | c.681G>A (p.Gln227=) c.738G>A (p.Gln246=) c.732G>A (p.Gln244=) | |
11 | g.128839564T>A | CA383244389 | KCNJ1 | c.680A>T (p.Gln227Leu) c.737A>T (p.Gln246Leu) c.731A>T (p.Gln244Leu) | |
11 | g.128839564T>C | CA383244392 | KCNJ1 | c.680A>G (p.Gln227Arg) c.737A>G (p.Gln246Arg) c.731A>G (p.Gln244Arg) | |
11 | g.128839564T>G | CA383244394 | KCNJ1 | c.680A>C (p.Gln227Pro) c.737A>C (p.Gln246Pro) c.731A>C (p.Gln244Pro) | |
11 | g.128839565G>A | CA383244401 | KCNJ1 | c.679C>T (p.Gln227Ter) c.736C>T (p.Gln246Ter) c.730C>T (p.Gln244Ter) | gnomAD v4 |
11 | g.128839565G>C | CA383244397 | KCNJ1 | c.679C>G (p.Gln227Glu) c.736C>G (p.Gln246Glu) c.730C>G (p.Gln244Glu) | |
11 | g.128839565G>T | CA383244399 | KCNJ1 | c.679C>A (p.Gln227Lys) c.736C>A (p.Gln246Lys) c.730C>A (p.Gln244Lys) | |
11 | g.128839566G>A | CA477703164 | KCNJ1 | c.678C>T (p.Asp226=) c.735C>T (p.Asp245=) c.729C>T (p.Asp243=) | gnomAD v4 |
11 | g.128839566G>C | CA383244403 | KCNJ1 | c.678C>G (p.Asp226Glu) c.735C>G (p.Asp245Glu) c.729C>G (p.Asp243Glu) | |
11 | g.128839566G= | CA2008286703 | KCNJ1 | c.678C= (p.Asp226=) c.735C= (p.Asp245=) c.729C= (p.Asp243=) | |
11 | g.128839566G>T | CA6357475 | KCNJ1 | c.678C>A (p.Asp226Glu) c.735C>A (p.Asp245Glu) c.729C>A (p.Asp243Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839567T>A | CA383244409 | KCNJ1 | c.677A>T (p.Asp226Val) c.734A>T (p.Asp245Val) c.728A>T (p.Asp243Val) | |
11 | g.128839567T>C | CA383244411 | KCNJ1 | c.677A>G (p.Asp226Gly) c.734A>G (p.Asp245Gly) c.728A>G (p.Asp243Gly) | dbSNP gnomAD v4 |
11 | g.128839567T>G | CA383244413 | KCNJ1 | c.677A>C (p.Asp226Ala) c.734A>C (p.Asp245Ala) c.728A>C (p.Asp243Ala) | |
11 | g.128839567T= | CA2008286705 | KCNJ1 | c.677A= (p.Asp226=) c.734A= (p.Asp245=) c.728A= (p.Asp243=) | |
11 | g.128839568C>A | CA383244420 | KCNJ1 | c.676G>T (p.Asp226Tyr) c.733G>T (p.Asp245Tyr) c.727G>T (p.Asp243Tyr) | |
11 | g.128839568C>G | CA383244418 | KCNJ1 | c.676G>C (p.Asp226His) c.733G>C (p.Asp245His) c.727G>C (p.Asp243His) | |
11 | g.128839568C>T | CA383244416 | KCNJ1 | c.676G>A (p.Asp226Asn) c.733G>A (p.Asp245Asn) c.727G>A (p.Asp243Asn) | |
11 | g.128839569C>A | CA383244423 | KCNJ1 | c.675G>T (p.Leu225Phe) c.732G>T (p.Leu244Phe) c.726G>T (p.Leu242Phe) | |
11 | g.128839569C= | CA2008286708 | KCNJ1 | c.675G= (p.Leu225=) c.732G= (p.Leu244=) c.726G= (p.Leu242=) | |
11 | g.128839569C>G | CA383244427 | KCNJ1 | c.675G>C (p.Leu225Phe) c.732G>C (p.Leu244Phe) c.726G>C (p.Leu242Phe) | |
11 | g.128839569C>T | CA6357476 | KCNJ1 | c.675G>A (p.Leu225=) c.732G>A (p.Leu244=) c.726G>A (p.Leu242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839570A>C | CA383244430 | KCNJ1 | c.674T>G (p.Leu225Trp) c.731T>G (p.Leu244Trp) c.725T>G (p.Leu242Trp) | |
11 | g.128839570A>G | CA383244432 | KCNJ1 | c.674T>C (p.Leu225Ser) c.731T>C (p.Leu244Ser) c.725T>C (p.Leu242Ser) | gnomAD v4 |
11 | g.128839570A>T | CA383244435 | KCNJ1 | c.674T>A (p.Leu225Ter) c.731T>A (p.Leu244Ter) c.725T>A (p.Leu242Ter) | |
11 | g.128839571A>C | CA383244437 | KCNJ1 | c.673T>G (p.Leu225Val) c.730T>G (p.Leu244Val) c.724T>G (p.Leu242Val) | |
11 | g.128839571A>G | CA477703173 | KCNJ1 | c.673T>C (p.Leu225=) c.730T>C (p.Leu244=) c.724T>C (p.Leu242=) | |
11 | g.128839571A>T | CA383244439 | KCNJ1 | c.673T>A (p.Leu225Met) c.730T>A (p.Leu244Met) c.724T>A (p.Leu242Met) | |
11 | g.128839572A>C | CA383244442 | KCNJ1 | c.672T>G (p.Ile224Met) c.729T>G (p.Ile243Met) c.723T>G (p.Ile241Met) | |
11 | g.128839572A>G | CA477703174 | KCNJ1 | c.672T>C (p.Ile224=) c.729T>C (p.Ile243=) c.723T>C (p.Ile241=) | |
11 | g.128839572A>T | CA477703175 | KCNJ1 | c.672T>A (p.Ile224=) c.729T>A (p.Ile243=) c.723T>A (p.Ile241=) | |
11 | g.128839573A>C | CA383244445 | KCNJ1 | c.671T>G (p.Ile224Ser) c.728T>G (p.Ile243Ser) c.722T>G (p.Ile241Ser) | |
11 | g.128839573A>G | CA383244447 | KCNJ1 | c.671T>C (p.Ile224Thr) c.728T>C (p.Ile243Thr) c.722T>C (p.Ile241Thr) | |
11 | g.128839573A>T | CA383244449 | KCNJ1 | c.671T>A (p.Ile224Asn) c.728T>A (p.Ile243Asn) c.722T>A (p.Ile241Asn) | |
11 | g.128839574T>A | CA383244452 | KCNJ1 | c.670A>T (p.Ile224Phe) c.727A>T (p.Ile243Phe) c.721A>T (p.Ile241Phe) | |
11 | g.128839574T>C | CA383244454 | KCNJ1 | c.670A>G (p.Ile224Val) c.727A>G (p.Ile243Val) c.721A>G (p.Ile241Val) | |
11 | g.128839574T>G | CA383244456 | KCNJ1 | c.670A>C (p.Ile224Leu) c.727A>C (p.Ile243Leu) c.721A>C (p.Ile241Leu) | |
11 | g.128839575A>C | CA383244458 | KCNJ1 | c.669T>G (p.Ile223Met) c.726T>G (p.Ile242Met) c.720T>G (p.Ile240Met) | gnomAD v4 |
11 | g.128839575A>G | CA477703181 | KCNJ1 | c.669T>C (p.Ile223=) c.726T>C (p.Ile242=) c.720T>C (p.Ile240=) | |
11 | g.128839575A>T | CA477703180 | KCNJ1 | c.669T>A (p.Ile223=) c.726T>A (p.Ile242=) c.720T>A (p.Ile240=) | |
11 | g.128839576A= | CA2008286710 | KCNJ1 | c.668T= (p.Ile223=) c.725T= (p.Ile242=) c.719T= (p.Ile240=) | |
11 | g.128839576A>C | CA383244461 | KCNJ1 | c.668T>G (p.Ile223Ser) c.725T>G (p.Ile242Ser) c.719T>G (p.Ile240Ser) | |
11 | g.128839576A>G | CA383244464 | KCNJ1 | c.668T>C (p.Ile223Thr) c.725T>C (p.Ile242Thr) c.719T>C (p.Ile240Thr) | dbSNP gnomAD v4 |
11 | g.128839576A>T | CA383244466 | KCNJ1 | c.668T>A (p.Ile223Asn) c.725T>A (p.Ile242Asn) c.719T>A (p.Ile240Asn) | |
11 | g.128839577T>A | CA383244470 | KCNJ1 | c.667A>T (p.Ile223Phe) c.724A>T (p.Ile242Phe) c.718A>T (p.Ile240Phe) | |
11 | g.128839577T>C | CA6357477 | KCNJ1 | c.667A>G (p.Ile223Val) c.724A>G (p.Ile242Val) c.718A>G (p.Ile240Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839577T>G | CA383244474 | KCNJ1 | c.667A>C (p.Ile223Leu) c.724A>C (p.Ile242Leu) c.718A>C (p.Ile240Leu) | |
11 | g.128839577T= | CA2008286715 | KCNJ1 | c.667A= (p.Ile223=) c.724A= (p.Ile242=) c.718A= (p.Ile240=) | |
11 | g.128839578G>A | CA477703184 | KCNJ1 | c.666C>T (p.Thr222=) c.723C>T (p.Thr241=) c.717C>T (p.Thr239=) | |
11 | g.128839578G>C | CA477703185 | KCNJ1 | c.666C>G (p.Thr222=) c.723C>G (p.Thr241=) c.717C>G (p.Thr239=) | |
11 | g.128839578G>T | CA477703186 | KCNJ1 | c.666C>A (p.Thr222=) c.723C>A (p.Thr241=) c.717C>A (p.Thr239=) | |
11 | g.128839579G>A | CA383244477 | KCNJ1 | c.665C>T (p.Thr222Ile) c.722C>T (p.Thr241Ile) c.716C>T (p.Thr239Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839579G>C | CA383244479 | KCNJ1 | c.665C>G (p.Thr222Ser) c.722C>G (p.Thr241Ser) c.716C>G (p.Thr239Ser) | |
11 | g.128839579G= | CA2008286717 | KCNJ1 | c.665C= (p.Thr222=) c.722C= (p.Thr241=) c.716C= (p.Thr239=) | |
11 | g.128839579G>T | CA383244482 | KCNJ1 | c.665C>A (p.Thr222Asn) c.722C>A (p.Thr241Asn) c.716C>A (p.Thr239Asn) | gnomAD v4 |
11 | g.128839580T>A | CA383244485 | KCNJ1 | c.664A>T (p.Thr222Ser) c.721A>T (p.Thr241Ser) c.715A>T (p.Thr239Ser) | |
11 | g.128839580T>C | CA383244487 | KCNJ1 | c.664A>G (p.Thr222Ala) c.721A>G (p.Thr241Ala) c.715A>G (p.Thr239Ala) | |
11 | g.128839580T>G | CA383244489 | KCNJ1 | c.664A>C (p.Thr222Pro) c.721A>C (p.Thr241Pro) c.715A>C (p.Thr239Pro) | |
11 | g.128839581C>A | CA383244492 | KCNJ1 | c.663G>T (p.Glu221Asp) c.720G>T (p.Glu240Asp) c.714G>T (p.Glu238Asp) | |
11 | g.128839581C= | CA2008286720 | KCNJ1 | c.663G= (p.Glu221=) c.720G= (p.Glu240=) c.714G= (p.Glu238=) | |
11 | g.128839581C>G | CA6357478 | KCNJ1 | c.663G>C (p.Glu221Asp) c.720G>C (p.Glu240Asp) c.714G>C (p.Glu238Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839581C>T | CA477703189 | KCNJ1 | c.663G>A (p.Glu221=) c.720G>A (p.Glu240=) c.714G>A (p.Glu238=) | |
11 | g.128839582T>A | CA383244496 | KCNJ1 | c.662A>T (p.Glu221Val) c.719A>T (p.Glu240Val) c.713A>T (p.Glu238Val) | |
11 | g.128839582T>C | CA383244500 | KCNJ1 | c.662A>G (p.Glu221Gly) c.719A>G (p.Glu240Gly) c.713A>G (p.Glu238Gly) | |
11 | g.128839582T>G | CA383244498 | KCNJ1 | c.662A>C (p.Glu221Ala) c.719A>C (p.Glu240Ala) c.713A>C (p.Glu238Ala) | |
11 | g.128839583C>A | CA383244503 | KCNJ1 | c.661G>T (p.Glu221Ter) c.718G>T (p.Glu240Ter) c.712G>T (p.Glu238Ter) | |
11 | g.128839583C= | CA2008286723 | KCNJ1 | c.661G= (p.Glu221=) c.718G= (p.Glu240=) c.712G= (p.Glu238=) | |
11 | g.128839583C>G | CA230628313 | KCNJ1 | c.661G>C (p.Glu221Gln) c.718G>C (p.Glu240Gln) c.712G>C (p.Glu238Gln) | dbSNP gnomAD v4 |
11 | g.128839583C>T | CA383244506 | KCNJ1 | c.661G>A (p.Glu221Lys) c.718G>A (p.Glu240Lys) c.712G>A (p.Glu238Lys) | gnomAD v4 COSMIC |
11 | g.128839584T>A | CA477703192 | KCNJ1 | c.660A>T (p.Gly220=) c.717A>T (p.Gly239=) c.711A>T (p.Gly237=) | |
11 | g.128839584T>C | CA477703193 | KCNJ1 | c.660A>G (p.Gly220=) c.717A>G (p.Gly239=) c.711A>G (p.Gly237=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839584T>G | CA477703195 | KCNJ1 | c.660A>C (p.Gly220=) c.717A>C (p.Gly239=) c.711A>C (p.Gly237=) | |
11 | g.128839584T= | CA2008286728 | KCNJ1 | c.660A= (p.Gly220=) c.717A= (p.Gly239=) c.711A= (p.Gly237=) | |
11 | g.128839584_128839585delinsTC | CA2008286726 | KCNJ1 | c.659_660delinsGA (p.Gly220=) c.716_717delinsGA (p.Gly239=) c.710_711delinsGA (p.Gly237=) | |
11 | g.128839585C>A | CA383244510 | KCNJ1 | c.659G>T (p.Gly220Val) c.716G>T (p.Gly239Val) c.710G>T (p.Gly237Val) | |
11 | g.128839585C>G | CA383244512 | KCNJ1 | c.659G>C (p.Gly220Ala) c.716G>C (p.Gly239Ala) c.710G>C (p.Gly237Ala) | |
11 | g.128839585C>T | CA383244515 | KCNJ1 | c.659G>A (p.Gly220Glu) c.716G>A (p.Gly239Glu) c.710G>A (p.Gly237Glu) | COSMIC |
11 | g.128839586del | CA6357479 | KCNJ1 | c.659del (p.Gly220GlufsTer14) c.716del (p.Gly239GlufsTer14) c.710del (p.Gly237GlufsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839586C>A | CA383244518 | KCNJ1 | c.658G>T (p.Gly220Ter) c.715G>T (p.Gly239Ter) c.709G>T (p.Gly237Ter) | |
11 | g.128839586C>G | CA383244520 | KCNJ1 | c.658G>C (p.Gly220Arg) c.715G>C (p.Gly239Arg) c.709G>C (p.Gly237Arg) | |
11 | g.128839586C>T | CA383244522 | KCNJ1 | c.658G>A (p.Gly220Arg) c.715G>A (p.Gly239Arg) c.709G>A (p.Gly237Arg) | |
11 | g.128839587T>A | CA383244525 | KCNJ1 | c.657A>T (p.Glu219Asp) c.714A>T (p.Glu238Asp) c.708A>T (p.Glu236Asp) | |
11 | g.128839587T>C | CA477703199 | KCNJ1 | c.657A>G (p.Glu219=) c.714A>G (p.Glu238=) c.708A>G (p.Glu236=) | |
11 | g.128839587T>G | CA383244527 | KCNJ1 | c.657A>C (p.Glu219Asp) c.714A>C (p.Glu238Asp) c.708A>C (p.Glu236Asp) | |
11 | g.128839588T>A | CA383244535 | KCNJ1 | c.656A>T (p.Glu219Val) c.713A>T (p.Glu238Val) c.707A>T (p.Glu236Val) | |
11 | g.128839588T>C | CA383244533 | KCNJ1 | c.656A>G (p.Glu219Gly) c.713A>G (p.Glu238Gly) c.707A>G (p.Glu236Gly) | |
11 | g.128839588T>G | CA383244530 | KCNJ1 | c.656A>C (p.Glu219Ala) c.713A>C (p.Glu238Ala) c.707A>C (p.Glu236Ala) | |
11 | g.128839589C>A | CA383244537 | KCNJ1 | c.655G>T (p.Glu219Ter) c.712G>T (p.Glu238Ter) c.706G>T (p.Glu236Ter) | |
11 | g.128839589C>G | CA383244539 | KCNJ1 | c.655G>C (p.Glu219Gln) c.712G>C (p.Glu238Gln) c.706G>C (p.Glu236Gln) | |
11 | g.128839589C>T | CA383244541 | KCNJ1 | c.655G>A (p.Glu219Lys) c.712G>A (p.Glu238Lys) c.706G>A (p.Glu236Lys) | |
11 | g.128839590A>C | CA477703203 | KCNJ1 | c.654T>G (p.Pro218=) c.711T>G (p.Pro237=) c.705T>G (p.Pro235=) | |
11 | g.128839590A>G | CA477703204 | KCNJ1 | c.654T>C (p.Pro218=) c.711T>C (p.Pro237=) c.705T>C (p.Pro235=) | gnomAD v4 |
11 | g.128839590A>T | CA477703205 | KCNJ1 | c.654T>A (p.Pro218=) c.711T>A (p.Pro237=) c.705T>A (p.Pro235=) | |
11 | g.128839591G>A | CA383244544 | KCNJ1 | c.653C>T (p.Pro218Leu) c.710C>T (p.Pro237Leu) c.704C>T (p.Pro235Leu) | |
11 | g.128839591G>C | CA383244545 | KCNJ1 | c.653C>G (p.Pro218Arg) c.710C>G (p.Pro237Arg) c.704C>G (p.Pro235Arg) | |
11 | g.128839591G>T | CA383244547 | KCNJ1 | c.653C>A (p.Pro218His) c.710C>A (p.Pro237His) c.704C>A (p.Pro235His) | |
11 | g.128839592G>A | CA383244550 | KCNJ1 | c.652C>T (p.Pro218Ser) c.709C>T (p.Pro237Ser) c.703C>T (p.Pro235Ser) | |
11 | g.128839592G>C | CA383244552 | KCNJ1 | c.652C>G (p.Pro218Ala) c.709C>G (p.Pro237Ala) c.703C>G (p.Pro235Ala) | |
11 | g.128839592G>T | CA383244554 | KCNJ1 | c.652C>A (p.Pro218Thr) c.709C>A (p.Pro237Thr) c.703C>A (p.Pro235Thr) | gnomAD v4 |
11 | g.128839593A>C | CA477703212 | KCNJ1 | c.651T>G (p.Thr217=) c.708T>G (p.Thr236=) c.702T>G (p.Thr234=) | |
11 | g.128839593A>G | CA477703213 | KCNJ1 | c.651T>C (p.Thr217=) c.708T>C (p.Thr236=) c.702T>C (p.Thr234=) | gnomAD v4 |
11 | g.128839593A>T | CA477703214 | KCNJ1 | c.651T>A (p.Thr217=) c.708T>A (p.Thr236=) c.702T>A (p.Thr234=) | |
11 | g.128839594G>A | CA383244556 | KCNJ1 | c.650C>T (p.Thr217Ile) c.707C>T (p.Thr236Ile) c.701C>T (p.Thr234Ile) | |
11 | g.128839594G>C | CA383244561 | KCNJ1 | c.650C>G (p.Thr217Ser) c.707C>G (p.Thr236Ser) c.701C>G (p.Thr234Ser) | |
11 | g.128839594G>T | CA383244562 | KCNJ1 | c.650C>A (p.Thr217Asn) c.707C>A (p.Thr236Asn) c.701C>A (p.Thr234Asn) | |
11 | g.128839595T>A | CA383244568 | KCNJ1 | c.649A>T (p.Thr217Ser) c.706A>T (p.Thr236Ser) c.700A>T (p.Thr234Ser) | dbSNP |
11 | g.128839595T>C | CA383244564 | KCNJ1 | c.649A>G (p.Thr217Ala) c.706A>G (p.Thr236Ala) c.700A>G (p.Thr234Ala) | dbSNP gnomAD v2 |
11 | g.128839595T>G | CA383244566 | KCNJ1 | c.649A>C (p.Thr217Pro) c.706A>C (p.Thr236Pro) c.700A>C (p.Thr234Pro) | |
11 | g.128839595T= | CA2008286733 | KCNJ1 | c.649A= (p.Thr217=) c.706A= (p.Thr236=) c.700A= (p.Thr234=) | |
11 | g.128839596G>A | CA477703218 | KCNJ1 | c.648C>T (p.Val216=) c.705C>T (p.Val235=) c.699C>T (p.Val233=) | gnomAD v4 |
11 | g.128839596G>C | CA477703217 | KCNJ1 | c.648C>G (p.Val216=) c.705C>G (p.Val235=) c.699C>G (p.Val233=) | |
11 | g.128839596G>T | CA477703216 | KCNJ1 | c.648C>A (p.Val216=) c.705C>A (p.Val235=) c.699C>A (p.Val233=) | |
11 | g.128839597A= | CA2008286735 | KCNJ1 | c.647T= (p.Val216=) c.704T= (p.Val235=) c.698T= (p.Val233=) | |
11 | g.128839597A>C | CA383244570 | KCNJ1 | c.647T>G (p.Val216Gly) c.704T>G (p.Val235Gly) c.698T>G (p.Val233Gly) | |
11 | g.128839597A>G | CA6357480 | KCNJ1 | c.647T>C (p.Val216Ala) c.704T>C (p.Val235Ala) c.698T>C (p.Val233Ala) | dbSNP ExAC gnomAD v2 |
11 | g.128839597A>T | CA383244573 | KCNJ1 | c.647T>A (p.Val216Asp) c.704T>A (p.Val235Asp) c.698T>A (p.Val233Asp) | |
11 | g.128839598C>A | CA383244578 | KCNJ1 | c.646G>T (p.Val216Phe) c.703G>T (p.Val235Phe) c.697G>T (p.Val233Phe) | |
11 | g.128839598C>G | CA383244582 | KCNJ1 | c.646G>C (p.Val216Leu) c.703G>C (p.Val235Leu) c.697G>C (p.Val233Leu) | |
11 | g.128839598C>T | CA383244580 | KCNJ1 | c.646G>A (p.Val216Ile) c.703G>A (p.Val235Ile) c.697G>A (p.Val233Ile) | |
11 | g.128839598_128839600delinsCTG | CA2008286740 | KCNJ1 | c.644_646delinsCAG (p.Thr215=) c.701_703delinsCAG (p.Thr234=) c.695_697delinsCAG (p.Thr232=) | |
11 | g.128839599T>A | CA477703221 | KCNJ1 | c.645A>T (p.Thr215=) c.702A>T (p.Thr234=) c.696A>T (p.Thr232=) | |
11 | g.128839599T>C | CA477703222 | KCNJ1 | c.645A>G (p.Thr215=) c.702A>G (p.Thr234=) c.696A>G (p.Thr232=) | |
11 | g.128839599T>G | CA477703223 | KCNJ1 | c.645A>C (p.Thr215=) c.702A>C (p.Thr234=) c.696A>C (p.Thr232=) | |
11 | g.128839601_128839602del | CA477703224 | KCNJ1 | c.644_645del (p.Thr215SerfsTer4) c.701_702del (p.Thr234SerfsTer4) c.695_696del (p.Thr232SerfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839600G>A | CA230628331 | KCNJ1 | c.644C>T (p.Thr215Ile) c.701C>T (p.Thr234Ile) c.695C>T (p.Thr232Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839600G>C | CA383244584 | KCNJ1 | c.644C>G (p.Thr215Arg) c.701C>G (p.Thr234Arg) c.695C>G (p.Thr232Arg) | |
11 | g.128839600G= | CA2008250517 | KCNJ1 | c.644C= (p.Thr215=) c.701C= (p.Thr234=) c.695C= (p.Thr232=) | |
11 | g.128839600G>T | CA383244585 | KCNJ1 | c.644C>A (p.Thr215Lys) c.701C>A (p.Thr234Lys) c.695C>A (p.Thr232Lys) | |
11 | g.128839601T>A | CA383244586 | KCNJ1 | c.643A>T (p.Thr215Ser) c.700A>T (p.Thr234Ser) c.694A>T (p.Thr232Ser) | |
11 | g.128839601T>C | CA383244587 | KCNJ1 | c.643A>G (p.Thr215Ala) c.700A>G (p.Thr234Ala) c.694A>G (p.Thr232Ala) | gnomAD v4 COSMIC |
11 | g.128839601T>G | CA383244588 | KCNJ1 | c.643A>C (p.Thr215Pro) c.700A>C (p.Thr234Pro) c.694A>C (p.Thr232Pro) | |
11 | g.128839602G>A | CA6357481 | KCNJ1 | c.642C>T (p.Thr214=) c.699C>T (p.Thr233=) c.693C>T (p.Thr231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839602G>C | CA477703228 | KCNJ1 | c.642C>G (p.Thr214=) c.699C>G (p.Thr233=) c.693C>G (p.Thr231=) | |
11 | g.128839602G= | CA2008250543 | KCNJ1 | c.642C= (p.Thr214=) c.699C= (p.Thr233=) c.693C= (p.Thr231=) | |
11 | g.128839602G>T | CA477703229 | KCNJ1 | c.642C>A (p.Thr214=) c.699C>A (p.Thr233=) c.693C>A (p.Thr231=) | gnomAD v4 |
11 | g.128839603G>A | CA383244589 | KCNJ1 | c.641C>T (p.Thr214Ile) c.698C>T (p.Thr233Ile) c.692C>T (p.Thr231Ile) | dbSNP |
11 | g.128839603G>C | CA383244590 | KCNJ1 | c.641C>G (p.Thr214Ser) c.698C>G (p.Thr233Ser) c.692C>G (p.Thr231Ser) | |
11 | g.128839603G= | CA2008250552 | KCNJ1 | c.641C= (p.Thr214=) c.698C= (p.Thr233=) c.692C= (p.Thr231=) | |
11 | g.128839603G>T | CA383244591 | KCNJ1 | c.641C>A (p.Thr214Asn) c.698C>A (p.Thr233Asn) c.692C>A (p.Thr231Asn) | |
11 | g.128839604T>A | CA383244592 | KCNJ1 | c.640A>T (p.Thr214Ser) c.697A>T (p.Thr233Ser) c.691A>T (p.Thr231Ser) | gnomAD v4 |
11 | g.128839604T>C | CA383244593 | KCNJ1 | c.640A>G (p.Thr214Ala) c.697A>G (p.Thr233Ala) c.691A>G (p.Thr231Ala) | dbSNP |
11 | g.128839604T>G | CA383244594 | KCNJ1 | c.640A>C (p.Thr214Pro) c.697A>C (p.Thr233Pro) c.691A>C (p.Thr231Pro) | dbSNP gnomAD v4 |
11 | g.128839604T= | CA2008250559 | KCNJ1 | c.640A= (p.Thr214=) c.697A= (p.Thr233=) c.691A= (p.Thr231=) | |
11 | g.128839605C>A | CA383244595 | KCNJ1 | c.639G>T (p.Lys213Asn) c.696G>T (p.Lys232Asn) c.690G>T (p.Lys230Asn) | |
11 | g.128839605C>G | CA383244596 | KCNJ1 | c.639G>C (p.Lys213Asn) c.696G>C (p.Lys232Asn) c.690G>C (p.Lys230Asn) | |
11 | g.128839605C>T | CA477703230 | KCNJ1 | c.639G>A (p.Lys213=) c.696G>A (p.Lys232=) c.690G>A (p.Lys230=) | |
11 | g.128839606T>A | CA383244597 | KCNJ1 | c.638A>T (p.Lys213Met) c.695A>T (p.Lys232Met) c.689A>T (p.Lys230Met) | |
11 | g.128839606T>C | CA383244598 | KCNJ1 | c.638A>G (p.Lys213Arg) c.695A>G (p.Lys232Arg) c.689A>G (p.Lys230Arg) | |
11 | g.128839606T>G | CA383244599 | KCNJ1 | c.638A>C (p.Lys213Thr) c.695A>C (p.Lys232Thr) c.689A>C (p.Lys230Thr) | |
11 | g.128839607T>A | CA383244600 | KCNJ1 | c.637A>T (p.Lys213Ter) c.694A>T (p.Lys232Ter) c.688A>T (p.Lys230Ter) | |
11 | g.128839607T>C | CA383244601 | KCNJ1 | c.637A>G (p.Lys213Glu) c.694A>G (p.Lys232Glu) c.688A>G (p.Lys230Glu) | |
11 | g.128839607T>G | CA383244602 | KCNJ1 | c.637A>C (p.Lys213Gln) c.694A>C (p.Lys232Gln) c.688A>C (p.Lys230Gln) | |
11 | g.128839608C>A | CA477703231 | KCNJ1 | c.636G>T (p.Leu212=) c.693G>T (p.Leu231=) c.687G>T (p.Leu229=) | |
11 | g.128839608C>G | CA477703233 | KCNJ1 | c.636G>C (p.Leu212=) c.693G>C (p.Leu231=) c.687G>C (p.Leu229=) | |
11 | g.128839608C>T | CA477703235 | KCNJ1 | c.636G>A (p.Leu212=) c.693G>A (p.Leu231=) c.687G>A (p.Leu229=) | |
11 | g.128839609A= | CA2008250570 | KCNJ1 | c.635T= (p.Leu212=) c.692T= (p.Leu231=) c.686T= (p.Leu229=) | |
11 | g.128839609A>C | CA383244603 | KCNJ1 | c.635T>G (p.Leu212Arg) c.692T>G (p.Leu231Arg) c.686T>G (p.Leu229Arg) | |
11 | g.128839609A>G | CA383244604 | KCNJ1 | c.635T>C (p.Leu212Pro) c.692T>C (p.Leu231Pro) c.686T>C (p.Leu229Pro) | |
11 | g.128839609A>T | CA383244605 | KCNJ1 | c.635T>A (p.Leu212Gln) c.692T>A (p.Leu231Gln) c.686T>A (p.Leu229Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839610G>A | CA477703236 | KCNJ1 | c.634C>T (p.Leu212=) c.691C>T (p.Leu231=) c.685C>T (p.Leu229=) | |
11 | g.128839610G>C | CA383244606 | KCNJ1 | c.634C>G (p.Leu212Val) c.691C>G (p.Leu231Val) c.685C>G (p.Leu229Val) | |
11 | g.128839610G>T | CA383244607 | KCNJ1 | c.634C>A (p.Leu212Met) c.691C>A (p.Leu231Met) c.685C>A (p.Leu229Met) | |
11 | g.128839611A>C | CA477703237 | KCNJ1 | c.633T>G (p.Leu211=) c.690T>G (p.Leu230=) c.684T>G (p.Leu228=) | |
11 | g.128839611A>G | CA477703238 | KCNJ1 | c.633T>C (p.Leu211=) c.690T>C (p.Leu230=) c.684T>C (p.Leu228=) | |
11 | g.128839611A>T | CA477703239 | KCNJ1 | c.633T>A (p.Leu211=) c.690T>A (p.Leu230=) c.684T>A (p.Leu228=) | |
11 | g.128839612A= | CA2008250575 | KCNJ1 | c.632T= (p.Leu211=) c.689T= (p.Leu230=) c.683T= (p.Leu228=) | |
11 | g.128839612A>C | CA383244610 | KCNJ1 | c.632T>G (p.Leu211Arg) c.689T>G (p.Leu230Arg) c.683T>G (p.Leu228Arg) | |
11 | g.128839612A>G | CA383244609 | KCNJ1 | c.632T>C (p.Leu211Pro) c.689T>C (p.Leu230Pro) c.683T>C (p.Leu228Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839612A>T | CA383244608 | KCNJ1 | c.632T>A (p.Leu211His) c.689T>A (p.Leu230His) c.683T>A (p.Leu228His) | |
11 | g.128839613G>A | CA6357482 | KCNJ1 | c.631C>T (p.Leu211Phe) c.688C>T (p.Leu230Phe) c.682C>T (p.Leu228Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839613G>C | CA383244611 | KCNJ1 | c.631C>G (p.Leu211Val) c.688C>G (p.Leu230Val) c.682C>G (p.Leu228Val) | |
11 | g.128839613G= | CA2008250580 | KCNJ1 | c.631C= (p.Leu211=) c.688C= (p.Leu230=) c.682C= (p.Leu228=) | |
11 | g.128839613G>T | CA383244612 | KCNJ1 | c.631C>A (p.Leu211Ile) c.688C>A (p.Leu230Ile) c.682C>A (p.Leu228Ile) | |
11 | g.128839614C>A | CA383244613 | KCNJ1 | c.630G>T (p.Lys210Asn) c.687G>T (p.Lys229Asn) c.681G>T (p.Lys227Asn) | |
11 | g.128839614C>G | CA383244614 | KCNJ1 | c.630G>C (p.Lys210Asn) c.687G>C (p.Lys229Asn) c.681G>C (p.Lys227Asn) | |
11 | g.128839614C>T | CA477703240 | KCNJ1 | c.630G>A (p.Lys210=) c.687G>A (p.Lys229=) c.681G>A (p.Lys227=) | gnomAD v4 |
11 | g.128839615T>A | CA383244615 | KCNJ1 | c.629A>T (p.Lys210Met) c.686A>T (p.Lys229Met) c.680A>T (p.Lys227Met) | |
11 | g.128839615T>C | CA383244616 | KCNJ1 | c.629A>G (p.Lys210Arg) c.686A>G (p.Lys229Arg) c.680A>G (p.Lys227Arg) | |
11 | g.128839615T>G | CA383244617 | KCNJ1 | c.629A>C (p.Lys210Thr) c.686A>C (p.Lys229Thr) c.680A>C (p.Lys227Thr) | |
11 | g.128839616T>A | CA383244618 | KCNJ1 | c.628A>T (p.Lys210Ter) c.685A>T (p.Lys229Ter) c.679A>T (p.Lys227Ter) | |
11 | g.128839616T>C | CA383244619 | KCNJ1 | c.628A>G (p.Lys210Glu) c.685A>G (p.Lys229Glu) c.679A>G (p.Lys227Glu) | |
11 | g.128839616T>G | CA383244620 | KCNJ1 | c.628A>C (p.Lys210Gln) c.685A>C (p.Lys229Gln) c.679A>C (p.Lys227Gln) | COSMIC |
11 | g.128839617T>A | CA477703244 | KCNJ1 | c.627A>T (p.Gly209=) c.684A>T (p.Gly228=) c.678A>T (p.Gly226=) | |
11 | g.128839617T>C | CA477703243 | KCNJ1 | c.627A>G (p.Gly209=) c.684A>G (p.Gly228=) c.678A>G (p.Gly226=) | |
11 | g.128839617T>G | CA477703242 | KCNJ1 | c.627A>C (p.Gly209=) c.684A>C (p.Gly228=) c.678A>C (p.Gly226=) | |
11 | g.128839618C>A | CA6357483 | KCNJ1 | c.626G>T (p.Gly209Val) c.683G>T (p.Gly228Val) c.677G>T (p.Gly226Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839618C= | CA2008250586 | KCNJ1 | c.626G= (p.Gly209=) c.683G= (p.Gly228=) c.677G= (p.Gly226=) | |
11 | g.128839618C>G | CA383244621 | KCNJ1 | c.626G>C (p.Gly209Ala) c.683G>C (p.Gly228Ala) c.677G>C (p.Gly226Ala) | |
11 | g.128839618C>T | CA230628371 | KCNJ1 | c.626G>A (p.Gly209Glu) c.683G>A (p.Gly228Glu) c.677G>A (p.Gly226Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839619C>A | CA383244623 | KCNJ1 | c.625G>T (p.Gly209Ter) c.682G>T (p.Gly228Ter) c.676G>T (p.Gly226Ter) | |
11 | g.128839619C= | CA2008250592 | KCNJ1 | c.625G= (p.Gly209=) c.682G= (p.Gly228=) c.676G= (p.Gly226=) | |
11 | g.128839619C>G | CA383244622 | KCNJ1 | c.625G>C (p.Gly209Arg) c.682G>C (p.Gly228Arg) c.676G>C (p.Gly226Arg) | |
11 | g.128839619C>T | CA230628392 | KCNJ1 | c.625G>A (p.Gly209Arg) c.682G>A (p.Gly228Arg) c.676G>A (p.Gly226Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839620A= | CA2008250595 | KCNJ1 | c.624T= (p.Tyr208=) c.681T= (p.Tyr227=) c.675T= (p.Tyr225=) | |
11 | g.128839620A>C | CA383244624 | KCNJ1 | c.624T>G (p.Tyr208Ter) c.681T>G (p.Tyr227Ter) c.675T>G (p.Tyr225Ter) | |
11 | g.128839620A>G | CA6357484 | KCNJ1 | c.624T>C (p.Tyr208=) c.681T>C (p.Tyr227=) c.675T>C (p.Tyr225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839620A>T | CA383244625 | KCNJ1 | c.624T>A (p.Tyr208Ter) c.681T>A (p.Tyr227Ter) c.675T>A (p.Tyr225Ter) | |
11 | g.128839621T>A | CA383244626 | KCNJ1 | c.623A>T (p.Tyr208Phe) c.680A>T (p.Tyr227Phe) c.674A>T (p.Tyr225Phe) | |
11 | g.128839621T>C | CA383244627 | KCNJ1 | c.623A>G (p.Tyr208Cys) c.680A>G (p.Tyr227Cys) c.674A>G (p.Tyr225Cys) | ClinVar dbSNP |
11 | g.128839621T>G | CA383244628 | KCNJ1 | c.623A>C (p.Tyr208Ser) c.680A>C (p.Tyr227Ser) c.674A>C (p.Tyr225Ser) | |
11 | g.128839621T= | CA2008250602 | KCNJ1 | c.623A= (p.Tyr208=) c.680A= (p.Tyr227=) c.674A= (p.Tyr225=) | |
11 | g.128839622A>C | CA383244629 | KCNJ1 | c.622T>G (p.Tyr208Asp) c.679T>G (p.Tyr227Asp) c.673T>G (p.Tyr225Asp) | |
11 | g.128839622A>G | CA383244630 | KCNJ1 | c.622T>C (p.Tyr208His) c.679T>C (p.Tyr227His) c.673T>C (p.Tyr225His) | |
11 | g.128839622A>T | CA383244631 | KCNJ1 | c.622T>A (p.Tyr208Asn) c.679T>A (p.Tyr227Asn) c.673T>A (p.Tyr225Asn) | |
11 | g.128839623A= | CA2008250611 | KCNJ1 | c.621T= (p.Ile207=) c.678T= (p.Ile226=) c.672T= (p.Ile224=) | |
11 | g.128839623A>C | CA6357485 | KCNJ1 | c.621T>G (p.Ile207Met) c.678T>G (p.Ile226Met) c.672T>G (p.Ile224Met) | dbSNP ExAC gnomAD v2 |
11 | g.128839623A>G | CA477703246 | KCNJ1 | c.621T>C (p.Ile207=) c.678T>C (p.Ile226=) c.672T>C (p.Ile224=) | |
11 | g.128839623A>T | CA477703245 | KCNJ1 | c.621T>A (p.Ile207=) c.678T>A (p.Ile226=) c.672T>A (p.Ile224=) | |
11 | g.128839624A>C | CA383244632 | KCNJ1 | c.620T>G (p.Ile207Ser) c.677T>G (p.Ile226Ser) c.671T>G (p.Ile224Ser) | |
11 | g.128839624A>G | CA383244633 | KCNJ1 | c.620T>C (p.Ile207Thr) c.677T>C (p.Ile226Thr) c.671T>C (p.Ile224Thr) | |
11 | g.128839624A>T | CA383244634 | KCNJ1 | c.620T>A (p.Ile207Asn) c.677T>A (p.Ile226Asn) c.671T>A (p.Ile224Asn) | |
11 | g.128839625T>A | CA383244636 | KCNJ1 | c.619A>T (p.Ile207Phe) c.676A>T (p.Ile226Phe) c.670A>T (p.Ile224Phe) | |
11 | g.128839625T>C | CA383244637 | KCNJ1 | c.619A>G (p.Ile207Val) c.676A>G (p.Ile226Val) c.670A>G (p.Ile224Val) | |
11 | g.128839625T>G | CA383244635 | KCNJ1 | c.619A>C (p.Ile207Leu) c.676A>C (p.Ile226Leu) c.670A>C (p.Ile224Leu) | |
11 | g.128839626G>A | CA6357486 | KCNJ1 | c.618C>T (p.His206=) c.675C>T (p.His225=) c.669C>T (p.His223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839626G>C | CA383244639 | KCNJ1 | c.618C>G (p.His206Gln) c.675C>G (p.His225Gln) c.669C>G (p.His223Gln) | |
11 | g.128839626G= | CA2008250621 | KCNJ1 | c.618C= (p.His206=) c.675C= (p.His225=) c.669C= (p.His223=) | |
11 | g.128839626G>T | CA383244638 | KCNJ1 | c.618C>A (p.His206Gln) c.675C>A (p.His225Gln) c.669C>A (p.His223Gln) | |
11 | g.128839627T>A | CA383244640 | KCNJ1 | c.617A>T (p.His206Leu) c.674A>T (p.His225Leu) c.668A>T (p.His223Leu) | |
11 | g.128839627T>C | CA383244641 | KCNJ1 | c.617A>G (p.His206Arg) c.674A>G (p.His225Arg) c.668A>G (p.His223Arg) | |
11 | g.128839627T>G | CA383244642 | KCNJ1 | c.617A>C (p.His206Pro) c.674A>C (p.His225Pro) c.668A>C (p.His223Pro) | |
11 | g.128839628G>A | CA383244643 | KCNJ1 | c.616C>T (p.His206Tyr) c.673C>T (p.His225Tyr) c.667C>T (p.His223Tyr) | |
11 | g.128839628G>C | CA383244644 | KCNJ1 | c.616C>G (p.His206Asp) c.673C>G (p.His225Asp) c.667C>G (p.His223Asp) | |
11 | g.128839628G>T | CA383244645 | KCNJ1 | c.616C>A (p.His206Asn) c.673C>A (p.His225Asn) c.667C>A (p.His223Asn) | |
11 | g.128839629A= | CA2008250628 | KCNJ1 | c.615T= (p.Ser205=) c.672T= (p.Ser224=) c.666T= (p.Ser222=) | |
11 | g.128839629A>C | CA383244646 | KCNJ1 | c.615T>G (p.Ser205Arg) c.672T>G (p.Ser224Arg) c.666T>G (p.Ser222Arg) | dbSNP |
11 | g.128839629A>G | CA477703247 | KCNJ1 | c.615T>C (p.Ser205=) c.672T>C (p.Ser224=) c.666T>C (p.Ser222=) | |
11 | g.128839629A>T | CA383244647 | KCNJ1 | c.615T>A (p.Ser205Arg) c.672T>A (p.Ser224Arg) c.666T>A (p.Ser222Arg) | |
11 | g.128839630C>A | CA383244648 | KCNJ1 | c.614G>T (p.Ser205Ile) c.671G>T (p.Ser224Ile) c.665G>T (p.Ser222Ile) | |
11 | g.128839630C= | CA2008250631 | KCNJ1 | c.614G= (p.Ser205=) c.671G= (p.Ser224=) c.665G= (p.Ser222=) | |
11 | g.128839630C>G | CA383244649 | KCNJ1 | c.614G>C (p.Ser205Thr) c.671G>C (p.Ser224Thr) c.665G>C (p.Ser222Thr) | |
11 | g.128839630C>T | CA383244650 | KCNJ1 | c.614G>A (p.Ser205Asn) c.671G>A (p.Ser224Asn) c.665G>A (p.Ser222Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839631T>A | CA383244653 | KCNJ1 | c.613A>T (p.Ser205Cys) c.670A>T (p.Ser224Cys) c.664A>T (p.Ser222Cys) | |
11 | g.128839631T>C | CA383244651 | KCNJ1 | c.613A>G (p.Ser205Gly) c.670A>G (p.Ser224Gly) c.664A>G (p.Ser222Gly) | |
11 | g.128839631T>G | CA383244652 | KCNJ1 | c.613A>C (p.Ser205Arg) c.670A>C (p.Ser224Arg) c.664A>C (p.Ser222Arg) | |
11 | g.128839632del | CA2575025048 | KCNJ1 | c.612del (p.Ser205ValfsTer8) c.669del (p.Ser224ValfsTer8) c.663del (p.Ser222ValfsTer8) | |
11 | g.128839632G>A | CA477703248 | KCNJ1 | c.612C>T (p.Gly204=) c.669C>T (p.Gly223=) c.663C>T (p.Gly221=) | gnomAD v4 |
11 | g.128839632G>C | CA477703249 | KCNJ1 | c.612C>G (p.Gly204=) c.669C>G (p.Gly223=) c.663C>G (p.Gly221=) | |
11 | g.128839632G>T | CA477703250 | KCNJ1 | c.612C>A (p.Gly204=) c.669C>A (p.Gly223=) c.663C>A (p.Gly221=) | |
11 | g.128839633C>A | CA383244654 | KCNJ1 | c.611G>T (p.Gly204Val) c.668G>T (p.Gly223Val) c.662G>T (p.Gly221Val) | |
11 | g.128839633C= | CA2008250637 | KCNJ1 | c.611G= (p.Gly204=) c.668G= (p.Gly223=) c.662G= (p.Gly221=) | |
11 | g.128839633C>G | CA383244655 | KCNJ1 | c.611G>C (p.Gly204Ala) c.668G>C (p.Gly223Ala) c.662G>C (p.Gly221Ala) | |
11 | g.128839633C>T | CA383244656 | KCNJ1 | c.611G>A (p.Gly204Asp) c.668G>A (p.Gly223Asp) c.662G>A (p.Gly221Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839634C>A | CA383244657 | KCNJ1 | c.610G>T (p.Gly204Cys) c.667G>T (p.Gly223Cys) c.661G>T (p.Gly221Cys) | |
11 | g.128839634C= | CA2008250643 | KCNJ1 | c.610G= (p.Gly204=) c.667G= (p.Gly223=) c.661G= (p.Gly221=) | |
11 | g.128839634C>G | CA6357487 | KCNJ1 | c.610G>C (p.Gly204Arg) c.667G>C (p.Gly223Arg) c.661G>C (p.Gly221Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839634C>T | CA383244658 | KCNJ1 | c.610G>A (p.Gly204Ser) c.667G>A (p.Gly223Ser) c.661G>A (p.Gly221Ser) | dbSNP |
11 | g.128839635A>C | CA383244659 | KCNJ1 | c.609T>G (p.Ile203Met) c.666T>G (p.Ile222Met) c.660T>G (p.Ile220Met) | |
11 | g.128839635A>G | CA477703251 | KCNJ1 | c.609T>C (p.Ile203=) c.666T>C (p.Ile222=) c.660T>C (p.Ile220=) | |
11 | g.128839635A>T | CA477703252 | KCNJ1 | c.609T>A (p.Ile203=) c.666T>A (p.Ile222=) c.660T>A (p.Ile220=) | |
11 | g.128839636A= | CA2008250651 | KCNJ1 | c.608T= (p.Ile203=) c.665T= (p.Ile222=) c.659T= (p.Ile220=) | |
11 | g.128839636A>C | CA383244660 | KCNJ1 | c.608T>G (p.Ile203Ser) c.665T>G (p.Ile222Ser) c.659T>G (p.Ile220Ser) | |
11 | g.128839636A>G | CA383244661 | KCNJ1 | c.608T>C (p.Ile203Thr) c.665T>C (p.Ile222Thr) c.659T>C (p.Ile220Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839636A>T | CA383244662 | KCNJ1 | c.608T>A (p.Ile203Asn) c.665T>A (p.Ile222Asn) c.659T>A (p.Ile220Asn) | |
11 | g.128839637T>A | CA383244664 | KCNJ1 | c.607A>T (p.Ile203Phe) c.664A>T (p.Ile222Phe) c.658A>T (p.Ile220Phe) | |
11 | g.128839637T>C | CA383244665 | KCNJ1 | c.607A>G (p.Ile203Val) c.664A>G (p.Ile222Val) c.658A>G (p.Ile220Val) | gnomAD v4 |
11 | g.128839637T>G | CA383244663 | KCNJ1 | c.607A>C (p.Ile203Leu) c.664A>C (p.Ile222Leu) c.658A>C (p.Ile220Leu) | |
11 | g.128839638A= | CA2008250654 | KCNJ1 | c.606T= (p.Leu202=) c.663T= (p.Leu221=) c.657T= (p.Leu219=) | |
11 | g.128839638A>C | CA477703253 | KCNJ1 | c.606T>G (p.Leu202=) c.663T>G (p.Leu221=) c.657T>G (p.Leu219=) | |
11 | g.128839638A>G | CA230628439 | KCNJ1 | c.606T>C (p.Leu202=) c.663T>C (p.Leu221=) c.657T>C (p.Leu219=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839638A>T | CA477703254 | KCNJ1 | c.606T>A (p.Leu202=) c.663T>A (p.Leu221=) c.657T>A (p.Leu219=) | |
11 | g.128839639A>C | CA383244666 | KCNJ1 | c.605T>G (p.Leu202Arg) c.662T>G (p.Leu221Arg) c.656T>G (p.Leu219Arg) | |
11 | g.128839639A>G | CA383244667 | KCNJ1 | c.605T>C (p.Leu202Pro) c.662T>C (p.Leu221Pro) c.656T>C (p.Leu219Pro) | |
11 | g.128839639A>T | CA383244668 | KCNJ1 | c.605T>A (p.Leu202His) c.662T>A (p.Leu221His) c.656T>A (p.Leu219His) | |
11 | g.128839640G>A | CA383244669 | KCNJ1 | c.604C>T (p.Leu202Phe) c.661C>T (p.Leu221Phe) c.655C>T (p.Leu219Phe) | |
11 | g.128839640G>C | CA383244670 | KCNJ1 | c.604C>G (p.Leu202Val) c.661C>G (p.Leu221Val) c.655C>G (p.Leu219Val) | |
11 | g.128839640G>T | CA383244671 | KCNJ1 | c.604C>A (p.Leu202Ile) c.661C>A (p.Leu221Ile) c.655C>A (p.Leu219Ile) | |
11 | g.128839641A>C | CA477703255 | KCNJ1 | c.603T>G (p.Leu201=) c.660T>G (p.Leu220=) c.654T>G (p.Leu218=) | |
11 | g.128839641A>G | CA477703256 | KCNJ1 | c.603T>C (p.Leu201=) c.660T>C (p.Leu220=) c.654T>C (p.Leu218=) | |
11 | g.128839641A>T | CA477703257 | KCNJ1 | c.603T>A (p.Leu201=) c.660T>A (p.Leu220=) c.654T>A (p.Leu218=) | |
11 | g.128839642A= | CA2008250659 | KCNJ1 | c.602T= (p.Leu201=) c.659T= (p.Leu220=) c.653T= (p.Leu218=) | |
11 | g.128839642A>C | CA383244672 | KCNJ1 | c.602T>G (p.Leu201Arg) c.659T>G (p.Leu220Arg) c.653T>G (p.Leu218Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839642A>G | CA383244673 | KCNJ1 | c.602T>C (p.Leu201Pro) c.659T>C (p.Leu220Pro) c.653T>C (p.Leu218Pro) | |
11 | g.128839642A>T | CA383244674 | KCNJ1 | c.602T>A (p.Leu201His) c.659T>A (p.Leu220His) c.653T>A (p.Leu218His) | dbSNP |
11 | g.128839643G>A | CA6357488 | KCNJ1 | c.601C>T (p.Leu201Phe) c.658C>T (p.Leu220Phe) c.652C>T (p.Leu218Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839643G>C | CA383244675 | KCNJ1 | c.601C>G (p.Leu201Val) c.658C>G (p.Leu220Val) c.652C>G (p.Leu218Val) | |
11 | g.128839643G= | CA2008250670 | KCNJ1 | c.601C= (p.Leu201=) c.658C= (p.Leu220=) c.652C= (p.Leu218=) | |
11 | g.128839643G>T | CA383244676 | KCNJ1 | c.601C>A (p.Leu201Ile) c.658C>A (p.Leu220Ile) c.652C>A (p.Leu218Ile) | |
11 | g.128839644G>A | CA477703258 | KCNJ1 | c.600C>T (p.Ser200=) c.657C>T (p.Ser219=) c.651C>T (p.Ser217=) | |
11 | g.128839644G>C | CA120152 | KCNJ1 | c.600C>G (p.Ser200Arg) c.657C>G (p.Ser219Arg) c.651C>G (p.Ser217Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839644G= | CA2008250694 | KCNJ1 | c.600C= (p.Ser200=) c.657C= (p.Ser219=) c.651C= (p.Ser217=) | |
11 | g.128839644G>T | CA383244677 | KCNJ1 | c.600C>A (p.Ser200Arg) c.657C>A (p.Ser219Arg) c.651C>A (p.Ser217Arg) | ClinVar gnomAD v4 |
11 | g.128839645C>A | CA383244678 | KCNJ1 | c.599G>T (p.Ser200Ile) c.656G>T (p.Ser219Ile) c.650G>T (p.Ser217Ile) | |
11 | g.128839645C>G | CA383244679 | KCNJ1 | c.599G>C (p.Ser200Thr) c.656G>C (p.Ser219Thr) c.650G>C (p.Ser217Thr) | |
11 | g.128839645C>T | CA383244680 | KCNJ1 | c.599G>A (p.Ser200Asn) c.656G>A (p.Ser219Asn) c.650G>A (p.Ser217Asn) | |
11 | g.128839646T>A | CA383244681 | KCNJ1 | c.598A>T (p.Ser200Cys) c.655A>T (p.Ser219Cys) c.649A>T (p.Ser217Cys) | |
11 | g.128839646T>C | CA383244682 | KCNJ1 | c.598A>G (p.Ser200Gly) c.655A>G (p.Ser219Gly) c.649A>G (p.Ser217Gly) | |
11 | g.128839646T>G | CA383244683 | KCNJ1 | c.598A>C (p.Ser200Arg) c.655A>C (p.Ser219Arg) c.649A>C (p.Ser217Arg) | |
11 | g.128839647C>A | CA383244684 | KCNJ1 | c.597G>T (p.Lys199Asn) c.654G>T (p.Lys218Asn) c.648G>T (p.Lys216Asn) | |
11 | g.128839647C= | CA2008250698 | KCNJ1 | c.597G= (p.Lys199=) c.654G= (p.Lys218=) c.648G= (p.Lys216=) | |
11 | g.128839647C>G | CA383244685 | KCNJ1 | c.597G>C (p.Lys199Asn) c.654G>C (p.Lys218Asn) c.648G>C (p.Lys216Asn) | dbSNP |
11 | g.128839647C>T | CA477703259 | KCNJ1 | c.597G>A (p.Lys199=) c.654G>A (p.Lys218=) c.648G>A (p.Lys216=) | |
11 | g.128839648T>A | CA383244686 | KCNJ1 | c.596A>T (p.Lys199Met) c.653A>T (p.Lys218Met) c.647A>T (p.Lys216Met) | dbSNP gnomAD v4 |
11 | g.128839648T>C | CA383244687 | KCNJ1 | c.596A>G (p.Lys199Arg) c.653A>G (p.Lys218Arg) c.647A>G (p.Lys216Arg) | |
11 | g.128839648T>G | CA383244688 | KCNJ1 | c.596A>C (p.Lys199Thr) c.653A>C (p.Lys218Thr) c.647A>C (p.Lys216Thr) | |
11 | g.128839648T= | CA2008250706 | KCNJ1 | c.596A= (p.Lys199=) c.653A= (p.Lys218=) c.647A= (p.Lys216=) | |
11 | g.128839649T>A | CA383244689 | KCNJ1 | c.595A>T (p.Lys199Ter) c.652A>T (p.Lys218Ter) c.646A>T (p.Lys216Ter) | dbSNP gnomAD v4 |
11 | g.128839649T>C | CA383244690 | KCNJ1 | c.595A>G (p.Lys199Glu) c.652A>G (p.Lys218Glu) c.646A>G (p.Lys216Glu) | |
11 | g.128839649T>G | CA383244691 | KCNJ1 | c.595A>C (p.Lys199Gln) c.652A>C (p.Lys218Gln) c.646A>C (p.Lys216Gln) | |
11 | g.128839649T= | CA2008250715 | KCNJ1 | c.595A= (p.Lys199=) c.652A= (p.Lys218=) c.646A= (p.Lys216=) | |
11 | g.128839650C>A | CA383244692 | KCNJ1 | c.594G>T (p.Arg198Ser) c.651G>T (p.Arg217Ser) c.645G>T (p.Arg215Ser) | |
11 | g.128839650C= | CA2008250720 | KCNJ1 | c.594G= (p.Arg198=) c.651G= (p.Arg217=) c.645G= (p.Arg215=) | |
11 | g.128839650C>G | CA383244693 | KCNJ1 | c.594G>C (p.Arg198Ser) c.651G>C (p.Arg217Ser) c.645G>C (p.Arg215Ser) | |
11 | g.128839650C>T | CA477703260 | KCNJ1 | c.594G>A (p.Arg198=) c.651G>A (p.Arg217=) c.645G>A (p.Arg215=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839651C>A | CA383244694 | KCNJ1 | c.593G>T (p.Arg198Met) c.650G>T (p.Arg217Met) c.644G>T (p.Arg215Met) | |
11 | g.128839651C= | CA2008250726 | KCNJ1 | c.593G= (p.Arg198=) c.650G= (p.Arg217=) c.644G= (p.Arg215=) | |
11 | g.128839651C>G | CA383244695 | KCNJ1 | c.593G>C (p.Arg198Thr) c.650G>C (p.Arg217Thr) c.644G>C (p.Arg215Thr) | |
11 | g.128839651C>T | CA383244696 | KCNJ1 | c.593G>A (p.Arg198Lys) c.650G>A (p.Arg217Lys) c.644G>A (p.Arg215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839652T>A | CA383244697 | KCNJ1 | c.592A>T (p.Arg198Trp) c.649A>T (p.Arg217Trp) c.643A>T (p.Arg215Trp) | |
11 | g.128839652T>C | CA383244698 | KCNJ1 | c.592A>G (p.Arg198Gly) c.649A>G (p.Arg217Gly) c.643A>G (p.Arg215Gly) | |
11 | g.128839652T>G | CA477703261 | KCNJ1 | c.592A>C (p.Arg198=) c.649A>C (p.Arg217=) c.643A>C (p.Arg215=) | |
11 | g.128839653G>A | CA477703262 | KCNJ1 | c.591C>T (p.Leu197=) c.648C>T (p.Leu216=) c.642C>T (p.Leu214=) | dbSNP gnomAD v2 |
11 | g.128839653G>C | CA477703263 | KCNJ1 | c.591C>G (p.Leu197=) c.648C>G (p.Leu216=) c.642C>G (p.Leu214=) | dbSNP COSMIC |
11 | g.128839653G= | CA2008250734 | KCNJ1 | c.591C= (p.Leu197=) c.648C= (p.Leu216=) c.642C= (p.Leu214=) | |
11 | g.128839653G>T | CA477703264 | KCNJ1 | c.591C>A (p.Leu197=) c.648C>A (p.Leu216=) c.642C>A (p.Leu214=) | |
11 | g.128839654A>C | CA383244699 | KCNJ1 | c.590T>G (p.Leu197Arg) c.647T>G (p.Leu216Arg) c.641T>G (p.Leu214Arg) | |
11 | g.128839654A>G | CA383244700 | KCNJ1 | c.590T>C (p.Leu197Pro) c.647T>C (p.Leu216Pro) c.641T>C (p.Leu214Pro) | |
11 | g.128839654A>T | CA383244701 | KCNJ1 | c.590T>A (p.Leu197His) c.647T>A (p.Leu216His) c.641T>A (p.Leu214His) | |
11 | g.128839655G>A | CA383244702 | KCNJ1 | c.589C>T (p.Leu197Phe) c.646C>T (p.Leu216Phe) c.640C>T (p.Leu214Phe) | |
11 | g.128839655G>C | CA383244704 | KCNJ1 | c.589C>G (p.Leu197Val) c.646C>G (p.Leu216Val) c.640C>G (p.Leu214Val) | |
11 | g.128839655G>T | CA383244703 | KCNJ1 | c.589C>A (p.Leu197Ile) c.646C>A (p.Leu216Ile) c.640C>A (p.Leu214Ile) | |
11 | g.128839656A>C | CA383244705 | KCNJ1 | c.588T>G (p.Asn196Lys) c.645T>G (p.Asn215Lys) c.639T>G (p.Asn213Lys) | |
11 | g.128839656A>G | CA477703265 | KCNJ1 | c.588T>C (p.Asn196=) c.645T>C (p.Asn215=) c.639T>C (p.Asn213=) | |
11 | g.128839656A>T | CA383244706 | KCNJ1 | c.588T>A (p.Asn196Lys) c.645T>A (p.Asn215Lys) c.639T>A (p.Asn213Lys) | |
11 | g.128839657T>A | CA383244707 | KCNJ1 | c.587A>T (p.Asn196Ile) c.644A>T (p.Asn215Ile) c.638A>T (p.Asn213Ile) | |
11 | g.128839657T>C | CA383244708 | KCNJ1 | c.587A>G (p.Asn196Ser) c.644A>G (p.Asn215Ser) c.638A>G (p.Asn213Ser) | gnomAD v4 |
11 | g.128839657T>G | CA383244709 | KCNJ1 | c.587A>C (p.Asn196Thr) c.644A>C (p.Asn215Thr) c.638A>C (p.Asn213Thr) | |
11 | g.128839658T>A | CA383244710 | KCNJ1 | c.586A>T (p.Asn196Tyr) c.643A>T (p.Asn215Tyr) c.637A>T (p.Asn213Tyr) | |
11 | g.128839658T>C | CA6357489 | KCNJ1 | c.586A>G (p.Asn196Asp) c.643A>G (p.Asn215Asp) c.637A>G (p.Asn213Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839658T>G | CA383244711 | KCNJ1 | c.586A>C (p.Asn196His) c.643A>C (p.Asn215His) c.637A>C (p.Asn213His) | |
11 | g.128839658T= | CA2008250741 | KCNJ1 | c.586A= (p.Asn196=) c.643A= (p.Asn215=) c.637A= (p.Asn213=) | |
11 | g.128839659A>C | CA477703268 | KCNJ1 | c.585T>G (p.Ala195=) c.642T>G (p.Ala214=) c.636T>G (p.Ala212=) | |
11 | g.128839659A>G | CA477703269 | KCNJ1 | c.585T>C (p.Ala195=) c.642T>C (p.Ala214=) c.636T>C (p.Ala212=) | |
11 | g.128839659A>T | CA477703270 | KCNJ1 | c.585T>A (p.Ala195=) c.642T>A (p.Ala214=) c.636T>A (p.Ala212=) | |
11 | g.128839660G>A | CA120154 | KCNJ1 | c.584C>T (p.Ala195Val) c.641C>T (p.Ala214Val) c.635C>T (p.Ala212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839660G>C | CA6357490 | KCNJ1 | c.584C>G (p.Ala195Gly) c.641C>G (p.Ala214Gly) c.635C>G (p.Ala212Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.128839660G= | CA2008250746 | KCNJ1 | c.584C= (p.Ala195=) c.641C= (p.Ala214=) c.635C= (p.Ala212=) | |
11 | g.128839660G>T | CA383244712 | KCNJ1 | c.584C>A (p.Ala195Asp) c.641C>A (p.Ala214Asp) c.635C>A (p.Ala212Asp) |