Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839385C>A | CA383243520 | KCNJ1 | c.859G>T (p.Ala287Ser) c.916G>T (p.Ala306Ser) c.910G>T (p.Ala304Ser) | |
11 | g.128839385C= | CA2008286427 | KCNJ1 | c.859G= (p.Ala287=) c.916G= (p.Ala306=) c.910G= (p.Ala304=) | |
11 | g.128839385C>G | CA383243522 | KCNJ1 | c.859G>C (p.Ala287Pro) c.916G>C (p.Ala306Pro) c.910G>C (p.Ala304Pro) | |
11 | g.128839385C>T | CA383243523 | KCNJ1 | c.859G>A (p.Ala287Thr) c.916G>A (p.Ala306Thr) c.910G>A (p.Ala304Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839386A>C | CA383243524 | KCNJ1 | c.858T>G (p.Ser286Arg) c.915T>G (p.Ser305Arg) c.909T>G (p.Ser303Arg) | |
11 | g.128839386A>G | CA477702995 | KCNJ1 | c.858T>C (p.Ser286=) c.915T>C (p.Ser305=) c.909T>C (p.Ser303=) | |
11 | g.128839386A>T | CA383243526 | KCNJ1 | c.858T>A (p.Ser286Arg) c.915T>A (p.Ser305Arg) c.909T>A (p.Ser303Arg) | |
11 | g.128839387C>A | CA383243527 | KCNJ1 | c.857G>T (p.Ser286Ile) c.914G>T (p.Ser305Ile) c.908G>T (p.Ser303Ile) | |
11 | g.128839387C>G | CA383243530 | KCNJ1 | c.857G>C (p.Ser286Thr) c.914G>C (p.Ser305Thr) c.908G>C (p.Ser303Thr) | |
11 | g.128839387C>T | CA383243529 | KCNJ1 | c.857G>A (p.Ser286Asn) c.914G>A (p.Ser305Asn) c.908G>A (p.Ser303Asn) | |
11 | g.128839388T>A | CA230628072 | KCNJ1 | c.856A>T (p.Ser286Cys) c.913A>T (p.Ser305Cys) c.907A>T (p.Ser303Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839388T>C | CA383243538 | KCNJ1 | c.856A>G (p.Ser286Gly) c.913A>G (p.Ser305Gly) c.907A>G (p.Ser303Gly) | |
11 | g.128839388T>G | CA383243532 | KCNJ1 | c.856A>C (p.Ser286Arg) c.913A>C (p.Ser305Arg) c.907A>C (p.Ser303Arg) | |
11 | g.128839388T= | CA2008286430 | KCNJ1 | c.856A= (p.Ser286=) c.913A= (p.Ser305=) c.907A= (p.Ser303=) | |
11 | g.128839389G>A | CA477702998 | KCNJ1 | c.855C>T (p.Thr285=) c.912C>T (p.Thr304=) c.906C>T (p.Thr302=) | |
11 | g.128839389G>C | CA477702999 | KCNJ1 | c.855C>G (p.Thr285=) c.912C>G (p.Thr304=) c.906C>G (p.Thr302=) | |
11 | g.128839389G>T | CA477703000 | KCNJ1 | c.855C>A (p.Thr285=) c.912C>A (p.Thr304=) c.906C>A (p.Thr302=) | |
11 | g.128839390G>A | CA383243540 | KCNJ1 | c.854C>T (p.Thr285Ile) c.911C>T (p.Thr304Ile) c.905C>T (p.Thr302Ile) | gnomAD v4 |
11 | g.128839390G>C | CA383243543 | KCNJ1 | c.854C>G (p.Thr285Ser) c.911C>G (p.Thr304Ser) c.905C>G (p.Thr302Ser) | |
11 | g.128839390G>T | CA383243541 | KCNJ1 | c.854C>A (p.Thr285Asn) c.911C>A (p.Thr304Asn) c.905C>A (p.Thr302Asn) | |
11 | g.128839391T>A | CA383243545 | KCNJ1 | c.853A>T (p.Thr285Ser) c.910A>T (p.Thr304Ser) c.904A>T (p.Thr302Ser) | |
11 | g.128839391T>C | CA383243548 | KCNJ1 | c.853A>G (p.Thr285Ala) c.910A>G (p.Thr304Ala) c.904A>G (p.Thr302Ala) | |
11 | g.128839391T>G | CA383243547 | KCNJ1 | c.853A>C (p.Thr285Pro) c.910A>C (p.Thr304Pro) c.904A>C (p.Thr302Pro) | dbSNP |
11 | g.128839391T= | CA2008286432 | KCNJ1 | c.853A= (p.Thr285=) c.910A= (p.Thr304=) c.904A= (p.Thr302=) | |
11 | g.128839392G>A | CA477703003 | KCNJ1 | c.852C>T (p.Ser284=) c.909C>T (p.Ser303=) c.903C>T (p.Ser301=) | |
11 | g.128839392G>C | CA477703004 | KCNJ1 | c.852C>G (p.Ser284=) c.909C>G (p.Ser303=) c.903C>G (p.Ser301=) | |
11 | g.128839392G>T | CA477703005 | KCNJ1 | c.852C>A (p.Ser284=) c.909C>A (p.Ser303=) c.903C>A (p.Ser301=) | |
11 | g.128839393G>A | CA383243550 | KCNJ1 | c.851C>T (p.Ser284Phe) c.908C>T (p.Ser303Phe) c.902C>T (p.Ser301Phe) | dbSNP |
11 | g.128839393G>C | CA383243551 | KCNJ1 | c.851C>G (p.Ser284Cys) c.908C>G (p.Ser303Cys) c.902C>G (p.Ser301Cys) | |
11 | g.128839393G= | CA2008286435 | KCNJ1 | c.851C= (p.Ser284=) c.908C= (p.Ser303=) c.902C= (p.Ser301=) | |
11 | g.128839393G>T | CA383243552 | KCNJ1 | c.851C>A (p.Ser284Tyr) c.908C>A (p.Ser303Tyr) c.902C>A (p.Ser301Tyr) | gnomAD v4 |
11 | g.128839394A= | CA2008286437 | KCNJ1 | c.850T= (p.Ser284=) c.907T= (p.Ser303=) c.901T= (p.Ser301=) | |
11 | g.128839394A>C | CA383243554 | KCNJ1 | c.850T>G (p.Ser284Ala) c.907T>G (p.Ser303Ala) c.901T>G (p.Ser301Ala) | |
11 | g.128839394A>G | CA383243556 | KCNJ1 | c.850T>C (p.Ser284Pro) c.907T>C (p.Ser303Pro) c.901T>C (p.Ser301Pro) | dbSNP gnomAD v4 |
11 | g.128839394A>T | CA383243558 | KCNJ1 | c.850T>A (p.Ser284Thr) c.907T>A (p.Ser303Thr) c.901T>A (p.Ser301Thr) | |
11 | g.128839395C>A | CA383243560 | KCNJ1 | c.849G>T (p.Glu283Asp) c.906G>T (p.Glu302Asp) c.900G>T (p.Glu300Asp) | |
11 | g.128839395C= | CA2008286439 | KCNJ1 | c.849G= (p.Glu283=) c.906G= (p.Glu302=) c.900G= (p.Glu300=) | |
11 | g.128839395C>G | CA383243562 | KCNJ1 | c.849G>C (p.Glu283Asp) c.906G>C (p.Glu302Asp) c.900G>C (p.Glu300Asp) | |
11 | g.128839395C>T | CA6357440 | KCNJ1 | c.849G>A (p.Glu283=) c.906G>A (p.Glu302=) c.900G>A (p.Glu300=) | dbSNP ExAC gnomAD v4 |
11 | g.128839396T>A | CA383243569 | KCNJ1 | c.848A>T (p.Glu283Val) c.905A>T (p.Glu302Val) c.899A>T (p.Glu300Val) | |
11 | g.128839396T>C | CA383243567 | KCNJ1 | c.848A>G (p.Glu283Gly) c.905A>G (p.Glu302Gly) c.899A>G (p.Glu300Gly) | ClinVar |
11 | g.128839396T>G | CA383243566 | KCNJ1 | c.848A>C (p.Glu283Ala) c.905A>C (p.Glu302Ala) c.899A>C (p.Glu300Ala) | |
11 | g.128839397C>A | CA383243571 | KCNJ1 | c.847G>T (p.Glu283Ter) c.904G>T (p.Glu302Ter) c.898G>T (p.Glu300Ter) | |
11 | g.128839397C>G | CA383243573 | KCNJ1 | c.847G>C (p.Glu283Gln) c.904G>C (p.Glu302Gln) c.898G>C (p.Glu300Gln) | |
11 | g.128839397C>T | CA383243575 | KCNJ1 | c.847G>A (p.Glu283Lys) c.904G>A (p.Glu302Lys) c.898G>A (p.Glu300Lys) | gnomAD v4 |
11 | g.128839398C>A | CA477703008 | KCNJ1 | c.846G>T (p.Val282=) c.903G>T (p.Val301=) c.897G>T (p.Val299=) | |
11 | g.128839398C= | CA2008286444 | KCNJ1 | c.846G= (p.Val282=) c.903G= (p.Val301=) c.897G= (p.Val299=) | |
11 | g.128839398C>G | CA477703009 | KCNJ1 | c.846G>C (p.Val282=) c.903G>C (p.Val301=) c.897G>C (p.Val299=) | |
11 | g.128839398C>T | CA230628073 | KCNJ1 | c.846G>A (p.Val282=) c.903G>A (p.Val301=) c.897G>A (p.Val299=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839399A>C | CA383243577 | KCNJ1 | c.845T>G (p.Val282Gly) c.902T>G (p.Val301Gly) c.896T>G (p.Val299Gly) | gnomAD v4 |
11 | g.128839399A>G | CA383243578 | KCNJ1 | c.845T>C (p.Val282Ala) c.902T>C (p.Val301Ala) c.896T>C (p.Val299Ala) | gnomAD v4 |
11 | g.128839399A>T | CA383243580 | KCNJ1 | c.845T>A (p.Val282Glu) c.902T>A (p.Val301Glu) c.896T>A (p.Val299Glu) | |
11 | g.128839400C>A | CA383243582 | KCNJ1 | c.844G>T (p.Val282Leu) c.901G>T (p.Val301Leu) c.895G>T (p.Val299Leu) | |
11 | g.128839400C= | CA2008286445 | KCNJ1 | c.844G= (p.Val282=) c.901G= (p.Val301=) c.895G= (p.Val299=) | |
11 | g.128839400C>G | CA383243583 | KCNJ1 | c.844G>C (p.Val282Leu) c.901G>C (p.Val301Leu) c.895G>C (p.Val299Leu) | |
11 | g.128839400C>T | CA6357441 | KCNJ1 | c.844G>A (p.Val282Met) c.901G>A (p.Val301Met) c.895G>A (p.Val299Met) | dbSNP ExAC gnomAD v2 |
11 | g.128839401T>A | CA477703011 | KCNJ1 | c.843A>T (p.Thr281=) c.900A>T (p.Thr300=) c.894A>T (p.Thr298=) | |
11 | g.128839401T>C | CA477703012 | KCNJ1 | c.843A>G (p.Thr281=) c.900A>G (p.Thr300=) c.894A>G (p.Thr298=) | dbSNP |
11 | g.128839401T>G | CA477703013 | KCNJ1 | c.843A>C (p.Thr281=) c.900A>C (p.Thr300=) c.894A>C (p.Thr298=) | |
11 | g.128839401T= | CA2008286447 | KCNJ1 | c.843A= (p.Thr281=) c.900A= (p.Thr300=) c.894A= (p.Thr298=) | |
11 | g.128839402G>A | CA6357442 | KCNJ1 | c.842C>T (p.Thr281Ile) c.899C>T (p.Thr300Ile) c.893C>T (p.Thr298Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839402G>C | CA383243594 | KCNJ1 | c.842C>G (p.Thr281Arg) c.899C>G (p.Thr300Arg) c.893C>G (p.Thr298Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839402G= | CA2008286448 | KCNJ1 | c.842C= (p.Thr281=) c.899C= (p.Thr300=) c.893C= (p.Thr298=) | |
11 | g.128839402G>T | CA383243588 | KCNJ1 | c.842C>A (p.Thr281Lys) c.899C>A (p.Thr300Lys) c.893C>A (p.Thr298Lys) | gnomAD v4 |
11 | g.128839403T>A | CA383243597 | KCNJ1 | c.841A>T (p.Thr281Ser) c.898A>T (p.Thr300Ser) c.892A>T (p.Thr298Ser) | |
11 | g.128839403T>C | CA6357443 | KCNJ1 | c.841A>G (p.Thr281Ala) c.898A>G (p.Thr300Ala) c.892A>G (p.Thr298Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839403T>G | CA383243602 | KCNJ1 | c.841A>C (p.Thr281Pro) c.898A>C (p.Thr300Pro) c.892A>C (p.Thr298Pro) | |
11 | g.128839403T= | CA2008286454 | KCNJ1 | c.841A= (p.Thr281=) c.898A= (p.Thr300=) c.892A= (p.Thr298=) | |
11 | g.128839404G>A | CA477702828 | KCNJ1 | c.840C>T (p.Gly280=) c.897C>T (p.Gly299=) c.891C>T (p.Gly297=) | |
11 | g.128839404G>C | CA477702829 | KCNJ1 | c.840C>G (p.Gly280=) c.897C>G (p.Gly299=) c.891C>G (p.Gly297=) | |
11 | g.128839404G>T | CA477702831 | KCNJ1 | c.840C>A (p.Gly280=) c.897C>A (p.Gly299=) c.891C>A (p.Gly297=) | |
11 | g.128839405C>A | CA383243606 | KCNJ1 | c.839G>T (p.Gly280Val) c.896G>T (p.Gly299Val) c.890G>T (p.Gly297Val) | |
11 | g.128839405C>G | CA383243608 | KCNJ1 | c.839G>C (p.Gly280Ala) c.896G>C (p.Gly299Ala) c.890G>C (p.Gly297Ala) | |
11 | g.128839405C>T | CA383243611 | KCNJ1 | c.839G>A (p.Gly280Asp) c.896G>A (p.Gly299Asp) c.890G>A (p.Gly297Asp) | |
11 | g.128839406C>A | CA383243615 | KCNJ1 | c.838G>T (p.Gly280Cys) c.895G>T (p.Gly299Cys) c.889G>T (p.Gly297Cys) | |
11 | g.128839406C= | CA2008286456 | KCNJ1 | c.838G= (p.Gly280=) c.895G= (p.Gly299=) c.889G= (p.Gly297=) | |
11 | g.128839406C>G | CA383243618 | KCNJ1 | c.838G>C (p.Gly280Arg) c.895G>C (p.Gly299Arg) c.889G>C (p.Gly297Arg) | |
11 | g.128839406C>T | CA6357444 | KCNJ1 | c.838G>A (p.Gly280Ser) c.895G>A (p.Gly299Ser) c.889G>A (p.Gly297Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839407A= | CA2008286460 | KCNJ1 | c.837T= (p.Asp279=) c.894T= (p.Asp298=) c.888T= (p.Asp296=) | |
11 | g.128839407A>C | CA383243631 | KCNJ1 | c.837T>G (p.Asp279Glu) c.894T>G (p.Asp298Glu) c.888T>G (p.Asp296Glu) | |
11 | g.128839407A>G | CA6357445 | KCNJ1 | c.837T>C (p.Asp279=) c.894T>C (p.Asp298=) c.888T>C (p.Asp296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839407A>T | CA383243637 | KCNJ1 | c.837T>A (p.Asp279Glu) c.894T>A (p.Asp298Glu) c.888T>A (p.Asp296Glu) | |
11 | g.128839408T>A | CA383243646 | KCNJ1 | c.836A>T (p.Asp279Val) c.893A>T (p.Asp298Val) c.887A>T (p.Asp296Val) | |
11 | g.128839408T>C | CA383243640 | KCNJ1 | c.836A>G (p.Asp279Gly) c.893A>G (p.Asp298Gly) c.887A>G (p.Asp296Gly) | |
11 | g.128839408T>G | CA383243644 | KCNJ1 | c.836A>C (p.Asp279Ala) c.893A>C (p.Asp298Ala) c.887A>C (p.Asp296Ala) | |
11 | g.128839409C>A | CA383243651 | KCNJ1 | c.835G>T (p.Asp279Tyr) c.892G>T (p.Asp298Tyr) c.886G>T (p.Asp296Tyr) | |
11 | g.128839409C>G | CA383243654 | KCNJ1 | c.835G>C (p.Asp279His) c.892G>C (p.Asp298His) c.886G>C (p.Asp296His) | |
11 | g.128839409C>T | CA383243657 | KCNJ1 | c.835G>A (p.Asp279Asn) c.892G>A (p.Asp298Asn) c.886G>A (p.Asp296Asn) | |
11 | g.128839410del | CA2741219565 | KCNJ1 | c.834del (p.Asp279MetfsTer?) c.891del (p.Asp298MetfsTer?) c.885del (p.Asp296MetfsTer?) | |
11 | g.128839410T>A | CA383243661 | KCNJ1 | c.834A>T (p.Leu278Phe) c.891A>T (p.Leu297Phe) c.885A>T (p.Leu295Phe) | |
11 | g.128839410T>C | CA477702834 | KCNJ1 | c.834A>G (p.Leu278=) c.891A>G (p.Leu297=) c.885A>G (p.Leu295=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839410T>G | CA383243663 | KCNJ1 | c.834A>C (p.Leu278Phe) c.891A>C (p.Leu297Phe) c.885A>C (p.Leu295Phe) | |
11 | g.128839410T= | CA2008286463 | KCNJ1 | c.834A= (p.Leu278=) c.891A= (p.Leu297=) c.885A= (p.Leu295=) | |
11 | g.128839411A= | CA2008286468 | KCNJ1 | c.833T= (p.Leu278=) c.890T= (p.Leu297=) c.884T= (p.Leu295=) | |
11 | g.128839411A>C | CA383243665 | KCNJ1 | c.833T>G (p.Leu278Ter) c.890T>G (p.Leu297Ter) c.884T>G (p.Leu295Ter) | |
11 | g.128839411A>G | CA383243666 | KCNJ1 | c.833T>C (p.Leu278Ser) c.890T>C (p.Leu297Ser) c.884T>C (p.Leu295Ser) | dbSNP gnomAD v4 |
11 | g.128839411A>T | CA383243670 | KCNJ1 | c.833T>A (p.Leu278Ter) c.890T>A (p.Leu297Ter) c.884T>A (p.Leu295Ter) | dbSNP |
11 | g.128839415del | CA2616771381 | KCNJ1 | c.833del (p.Leu278Ter) c.890del (p.Leu297Ter) c.884del (p.Leu295Ter) | gnomAD v4 |
11 | g.128839412A>C | CA383243673 | KCNJ1 | c.832T>G (p.Leu278Val) c.889T>G (p.Leu297Val) c.883T>G (p.Leu295Val) | |
11 | g.128839412A>G | CA477702837 | KCNJ1 | c.832T>C (p.Leu278=) c.889T>C (p.Leu297=) c.883T>C (p.Leu295=) | |
11 | g.128839412A>T | CA383243676 | KCNJ1 | c.832T>A (p.Leu278Ile) c.889T>A (p.Leu297Ile) c.883T>A (p.Leu295Ile) | |
11 | g.128839413A= | CA2008286473 | KCNJ1 | c.831T= (p.Phe277=) c.888T= (p.Phe296=) c.882T= (p.Phe294=) | |
11 | g.128839413A>C | CA383243685 | KCNJ1 | c.831T>G (p.Phe277Leu) c.888T>G (p.Phe296Leu) c.882T>G (p.Phe294Leu) | |
11 | g.128839413A>G | CA477702838 | KCNJ1 | c.831T>C (p.Phe277=) c.888T>C (p.Phe296=) c.882T>C (p.Phe294=) | |
11 | g.128839413A>T | CA6357446 | KCNJ1 | c.831T>A (p.Phe277Leu) c.888T>A (p.Phe296Leu) c.882T>A (p.Phe294Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839414A>C | CA383243695 | KCNJ1 | c.830T>G (p.Phe277Cys) c.887T>G (p.Phe296Cys) c.881T>G (p.Phe294Cys) | |
11 | g.128839414A>G | CA383243697 | KCNJ1 | c.830T>C (p.Phe277Ser) c.887T>C (p.Phe296Ser) c.881T>C (p.Phe294Ser) | |
11 | g.128839414A>T | CA383243692 | KCNJ1 | c.830T>A (p.Phe277Tyr) c.887T>A (p.Phe296Tyr) c.881T>A (p.Phe294Tyr) | |
11 | g.128839415A>C | CA383243712 | KCNJ1 | c.829T>G (p.Phe277Val) c.886T>G (p.Phe296Val) c.880T>G (p.Phe294Val) | |
11 | g.128839415A>G | CA383243700 | KCNJ1 | c.829T>C (p.Phe277Leu) c.886T>C (p.Phe296Leu) c.880T>C (p.Phe294Leu) | |
11 | g.128839415A>T | CA383243703 | KCNJ1 | c.829T>A (p.Phe277Ile) c.886T>A (p.Phe296Ile) c.880T>A (p.Phe294Ile) | |
11 | g.128839416C>A | CA477702841 | KCNJ1 | c.828G>T (p.Val276=) c.885G>T (p.Val295=) c.879G>T (p.Val293=) | |
11 | g.128839416C= | CA2008286476 | KCNJ1 | c.828G= (p.Val276=) c.885G= (p.Val295=) c.879G= (p.Val293=) | |
11 | g.128839416C>G | CA477702842 | KCNJ1 | c.828G>C (p.Val276=) c.885G>C (p.Val295=) c.879G>C (p.Val293=) | |
11 | g.128839416C>T | CA477702840 | KCNJ1 | c.828G>A (p.Val276=) c.885G>A (p.Val295=) c.879G>A (p.Val293=) | ClinVar dbSNP |
11 | g.128839417A= | CA2008286481 | KCNJ1 | c.827T= (p.Val276=) c.884T= (p.Val295=) c.878T= (p.Val293=) | |
11 | g.128839417A>C | CA383243717 | KCNJ1 | c.827T>G (p.Val276Gly) c.884T>G (p.Val295Gly) c.878T>G (p.Val293Gly) | dbSNP |
11 | g.128839417A>G | CA6357447 | KCNJ1 | c.827T>C (p.Val276Ala) c.884T>C (p.Val295Ala) c.878T>C (p.Val293Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839417A>T | CA383243723 | KCNJ1 | c.827T>A (p.Val276Glu) c.884T>A (p.Val295Glu) c.878T>A (p.Val293Glu) | |
11 | g.128839418C>A | CA383243727 | KCNJ1 | c.826G>T (p.Val276Leu) c.883G>T (p.Val295Leu) c.877G>T (p.Val293Leu) | |
11 | g.128839418C= | CA2008286483 | KCNJ1 | c.826G= (p.Val276=) c.883G= (p.Val295=) c.877G= (p.Val293=) | |
11 | g.128839418C>G | CA383243729 | KCNJ1 | c.826G>C (p.Val276Leu) c.883G>C (p.Val295Leu) c.877G>C (p.Val293Leu) | |
11 | g.128839418C>T | CA383243734 | KCNJ1 | c.826G>A (p.Val276Met) c.883G>A (p.Val295Met) c.877G>A (p.Val293Met) | dbSNP |
11 | g.128839419C>A | CA477702848 | KCNJ1 | c.825G>T (p.Val275=) c.882G>T (p.Val294=) c.876G>T (p.Val292=) | |
11 | g.128839419C>G | CA477702846 | KCNJ1 | c.825G>C (p.Val275=) c.882G>C (p.Val294=) c.876G>C (p.Val292=) | |
11 | g.128839419C>T | CA477702847 | KCNJ1 | c.825G>A (p.Val275=) c.882G>A (p.Val294=) c.876G>A (p.Val292=) | ClinVar |
11 | g.128839420A>C | CA383243736 | KCNJ1 | c.824T>G (p.Val275Gly) c.881T>G (p.Val294Gly) c.875T>G (p.Val292Gly) | |
11 | g.128839420A>G | CA383243743 | KCNJ1 | c.824T>C (p.Val275Ala) c.881T>C (p.Val294Ala) c.875T>C (p.Val292Ala) | |
11 | g.128839420A>T | CA383243745 | KCNJ1 | c.824T>A (p.Val275Glu) c.881T>A (p.Val294Glu) c.875T>A (p.Val292Glu) | |
11 | g.128839421C>A | CA383243747 | KCNJ1 | c.823G>T (p.Val275Leu) c.880G>T (p.Val294Leu) c.874G>T (p.Val292Leu) | |
11 | g.128839421C>G | CA383243749 | KCNJ1 | c.823G>C (p.Val275Leu) c.880G>C (p.Val294Leu) c.874G>C (p.Val292Leu) | gnomAD v4 |
11 | g.128839421C>T | CA383243752 | KCNJ1 | c.823G>A (p.Val275Met) c.880G>A (p.Val294Met) c.874G>A (p.Val292Met) | |
11 | g.128839422T>A | CA383243755 | KCNJ1 | c.822A>T (p.Leu274Phe) c.879A>T (p.Leu293Phe) c.873A>T (p.Leu291Phe) | |
11 | g.128839422T>C | CA477702849 | KCNJ1 | c.822A>G (p.Leu274=) c.879A>G (p.Leu293=) c.873A>G (p.Leu291=) | |
11 | g.128839422T>G | CA383243758 | KCNJ1 | c.822A>C (p.Leu274Phe) c.879A>C (p.Leu293Phe) c.873A>C (p.Leu291Phe) | |
11 | g.128839423A>C | CA383243760 | KCNJ1 | c.821T>G (p.Leu274Ter) c.878T>G (p.Leu293Ter) c.872T>G (p.Leu291Ter) | |
11 | g.128839423A>G | CA383243762 | KCNJ1 | c.821T>C (p.Leu274Ser) c.878T>C (p.Leu293Ser) c.872T>C (p.Leu291Ser) | |
11 | g.128839423A>T | CA383243764 | KCNJ1 | c.821T>A (p.Leu274Ter) c.878T>A (p.Leu293Ter) c.872T>A (p.Leu291Ter) | |
11 | g.128839424A>C | CA383243766 | KCNJ1 | c.820T>G (p.Leu274Val) c.877T>G (p.Leu293Val) c.871T>G (p.Leu291Val) | |
11 | g.128839424A>G | CA477702852 | KCNJ1 | c.820T>C (p.Leu274=) c.877T>C (p.Leu293=) c.871T>C (p.Leu291=) | |
11 | g.128839424A>T | CA383243768 | KCNJ1 | c.820T>A (p.Leu274Ile) c.877T>A (p.Leu293Ile) c.871T>A (p.Leu291Ile) | |
11 | g.128839424_128839425insACACACCCAACACA | CA2794083165 | KCNJ1 | c.820_821insGTGTTGGGTGTGTT (p.Leu274CysfsTer6) c.877_878insGTGTTGGGTGTGTT (p.Leu293CysfsTer6) c.871_872insGTGTTGGGTGTGTT (p.Leu291CysfsTer6) | |
11 | g.128839425T>A | CA383243771 | KCNJ1 | c.819A>T (p.Glu273Asp) c.876A>T (p.Glu292Asp) c.870A>T (p.Glu290Asp) | |
11 | g.128839425T>C | CA230628156 | KCNJ1 | c.819A>G (p.Glu273=) c.876A>G (p.Glu292=) c.870A>G (p.Glu290=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839425T>G | CA383243774 | KCNJ1 | c.819A>C (p.Glu273Asp) c.876A>C (p.Glu292Asp) c.870A>C (p.Glu290Asp) | |
11 | g.128839425T= | CA2008286486 | KCNJ1 | c.819A= (p.Glu273=) c.876A= (p.Glu292=) c.870A= (p.Glu290=) | |
11 | g.128839426T>A | CA383243776 | KCNJ1 | c.818A>T (p.Glu273Val) c.875A>T (p.Glu292Val) c.869A>T (p.Glu290Val) | gnomAD v4 |
11 | g.128839426T>C | CA383243778 | KCNJ1 | c.818A>G (p.Glu273Gly) c.875A>G (p.Glu292Gly) c.869A>G (p.Glu290Gly) | |
11 | g.128839426T>G | CA383243780 | KCNJ1 | c.818A>C (p.Glu273Ala) c.875A>C (p.Glu292Ala) c.869A>C (p.Glu290Ala) | |
11 | g.128839427C>A | CA383243785 | KCNJ1 | c.817G>T (p.Glu273Ter) c.874G>T (p.Glu292Ter) c.868G>T (p.Glu290Ter) | |
11 | g.128839427C>G | CA383243784 | KCNJ1 | c.817G>C (p.Glu273Gln) c.874G>C (p.Glu292Gln) c.868G>C (p.Glu290Gln) | |
11 | g.128839427C>T | CA383243782 | KCNJ1 | c.817G>A (p.Glu273Lys) c.874G>A (p.Glu292Lys) c.868G>A (p.Glu290Lys) | |
11 | g.128839428A>C | CA383243787 | KCNJ1 | c.816T>G (p.Phe272Leu) c.873T>G (p.Phe291Leu) c.867T>G (p.Phe289Leu) | |
11 | g.128839428A>G | CA477702856 | KCNJ1 | c.816T>C (p.Phe272=) c.873T>C (p.Phe291=) c.867T>C (p.Phe289=) | |
11 | g.128839428A>T | CA383243789 | KCNJ1 | c.816T>A (p.Phe272Leu) c.873T>A (p.Phe291Leu) c.867T>A (p.Phe289Leu) | |
11 | g.128839429A>C | CA383243791 | KCNJ1 | c.815T>G (p.Phe272Cys) c.872T>G (p.Phe291Cys) c.866T>G (p.Phe289Cys) | |
11 | g.128839429A>G | CA383243793 | KCNJ1 | c.815T>C (p.Phe272Ser) c.872T>C (p.Phe291Ser) c.866T>C (p.Phe289Ser) | |
11 | g.128839429A>T | CA383243795 | KCNJ1 | c.815T>A (p.Phe272Tyr) c.872T>A (p.Phe291Tyr) c.866T>A (p.Phe289Tyr) | |
11 | g.128839430A>C | CA383243797 | KCNJ1 | c.814T>G (p.Phe272Val) c.871T>G (p.Phe291Val) c.865T>G (p.Phe289Val) | |
11 | g.128839430A>G | CA383243799 | KCNJ1 | c.814T>C (p.Phe272Leu) c.871T>C (p.Phe291Leu) c.865T>C (p.Phe289Leu) | |
11 | g.128839430A>T | CA383243801 | KCNJ1 | c.814T>A (p.Phe272Ile) c.871T>A (p.Phe291Ile) c.865T>A (p.Phe289Ile) | |
11 | g.128839431G>A | CA477702860 | KCNJ1 | c.813C>T (p.Asp271=) c.870C>T (p.Asp290=) c.864C>T (p.Asp288=) | |
11 | g.128839431G>C | CA383243802 | KCNJ1 | c.813C>G (p.Asp271Glu) c.870C>G (p.Asp290Glu) c.864C>G (p.Asp288Glu) | |
11 | g.128839431G>T | CA383243804 | KCNJ1 | c.813C>A (p.Asp271Glu) c.870C>A (p.Asp290Glu) c.864C>A (p.Asp288Glu) | |
11 | g.128839432T>A | CA383243807 | KCNJ1 | c.812A>T (p.Asp271Val) c.869A>T (p.Asp290Val) c.863A>T (p.Asp288Val) | dbSNP gnomAD v4 COSMIC |
11 | g.128839432T>C | CA383243808 | KCNJ1 | c.812A>G (p.Asp271Gly) c.869A>G (p.Asp290Gly) c.863A>G (p.Asp288Gly) | dbSNP |
11 | g.128839432T>G | CA383243810 | KCNJ1 | c.812A>C (p.Asp271Ala) c.869A>C (p.Asp290Ala) c.863A>C (p.Asp288Ala) | |
11 | g.128839432T= | CA2008286490 | KCNJ1 | c.812A= (p.Asp271=) c.869A= (p.Asp290=) c.863A= (p.Asp288=) | |
11 | g.128839433C>A | CA383243816 | KCNJ1 | c.811G>T (p.Asp271Tyr) c.868G>T (p.Asp290Tyr) c.862G>T (p.Asp288Tyr) | |
11 | g.128839433C>G | CA383243812 | KCNJ1 | c.811G>C (p.Asp271His) c.868G>C (p.Asp290His) c.862G>C (p.Asp288His) | |
11 | g.128839433C>T | CA383243814 | KCNJ1 | c.811G>A (p.Asp271Asn) c.868G>A (p.Asp290Asn) c.862G>A (p.Asp288Asn) | COSMIC |
11 | g.128839434C>A | CA383243818 | KCNJ1 | c.810G>T (p.Gln270His) c.867G>T (p.Gln289His) c.861G>T (p.Gln287His) | |
11 | g.128839434C= | CA2008286492 | KCNJ1 | c.810G= (p.Gln270=) c.867G= (p.Gln289=) c.861G= (p.Gln287=) | |
11 | g.128839434C>G | CA383243819 | KCNJ1 | c.810G>C (p.Gln270His) c.867G>C (p.Gln289His) c.861G>C (p.Gln287His) | |
11 | g.128839434C>T | CA477702866 | KCNJ1 | c.810G>A (p.Gln270=) c.867G>A (p.Gln289=) c.861G>A (p.Gln287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839435T>A | CA383243822 | KCNJ1 | c.809A>T (p.Gln270Leu) c.866A>T (p.Gln289Leu) c.860A>T (p.Gln287Leu) | |
11 | g.128839435T>C | CA383243823 | KCNJ1 | c.809A>G (p.Gln270Arg) c.866A>G (p.Gln289Arg) c.860A>G (p.Gln287Arg) | |
11 | g.128839435T>G | CA383243825 | KCNJ1 | c.809A>C (p.Gln270Pro) c.866A>C (p.Gln289Pro) c.860A>C (p.Gln287Pro) | |
11 | g.128839436G>A | CA383243826 | KCNJ1 | c.808C>T (p.Gln270Ter) c.865C>T (p.Gln289Ter) c.859C>T (p.Gln287Ter) | ClinVar |
11 | g.128839436G>C | CA383243827 | KCNJ1 | c.808C>G (p.Gln270Glu) c.865C>G (p.Gln289Glu) c.859C>G (p.Gln287Glu) | |
11 | g.128839436G>T | CA383243828 | KCNJ1 | c.808C>A (p.Gln270Lys) c.865C>A (p.Gln289Lys) c.859C>A (p.Gln287Lys) | gnomAD v4 |
11 | g.128839437C>A | CA383243831 | KCNJ1 | c.807G>T (p.Gln269His) c.864G>T (p.Gln288His) c.858G>T (p.Gln286His) | |
11 | g.128839437C>G | CA383243832 | KCNJ1 | c.807G>C (p.Gln269His) c.864G>C (p.Gln288His) c.858G>C (p.Gln286His) | |
11 | g.128839437C>T | CA477702869 | KCNJ1 | c.807G>A (p.Gln269=) c.864G>A (p.Gln288=) c.858G>A (p.Gln286=) | ClinVar |
11 | g.128839438T>A | CA383243835 | KCNJ1 | c.806A>T (p.Gln269Leu) c.863A>T (p.Gln288Leu) c.857A>T (p.Gln286Leu) | |
11 | g.128839438T>C | CA383243837 | KCNJ1 | c.806A>G (p.Gln269Arg) c.863A>G (p.Gln288Arg) c.857A>G (p.Gln286Arg) | |
11 | g.128839438T>G | CA383243838 | KCNJ1 | c.806A>C (p.Gln269Pro) c.863A>C (p.Gln288Pro) c.857A>C (p.Gln286Pro) | |
11 | g.128839439G>A | CA383243842 | KCNJ1 | c.805C>T (p.Gln269Ter) c.862C>T (p.Gln288Ter) c.856C>T (p.Gln286Ter) | gnomAD v4 |
11 | g.128839439G>C | CA383243844 | KCNJ1 | c.805C>G (p.Gln269Glu) c.862C>G (p.Gln288Glu) c.856C>G (p.Gln286Glu) | |
11 | g.128839439G>T | CA383243840 | KCNJ1 | c.805C>A (p.Gln269Lys) c.862C>A (p.Gln288Lys) c.856C>A (p.Gln286Lys) | |
11 | g.128839440G>A | CA477702876 | KCNJ1 | c.804C>T (p.Leu268=) c.861C>T (p.Leu287=) c.855C>T (p.Leu285=) | gnomAD v4 |
11 | g.128839440G>C | CA477702877 | KCNJ1 | c.804C>G (p.Leu268=) c.861C>G (p.Leu287=) c.855C>G (p.Leu285=) | |
11 | g.128839440G>T | CA477702879 | KCNJ1 | c.804C>A (p.Leu268=) c.861C>A (p.Leu287=) c.855C>A (p.Leu285=) | gnomAD v4 |
11 | g.128839441A>C | CA383243848 | KCNJ1 | c.803T>G (p.Leu268Arg) c.860T>G (p.Leu287Arg) c.854T>G (p.Leu285Arg) | |
11 | g.128839441A>G | CA383243846 | KCNJ1 | c.803T>C (p.Leu268Pro) c.860T>C (p.Leu287Pro) c.854T>C (p.Leu285Pro) | |
11 | g.128839441A>T | CA383243849 | KCNJ1 | c.803T>A (p.Leu268His) c.860T>A (p.Leu287His) c.854T>A (p.Leu285His) | |
11 | g.128839442G>A | CA383243851 | KCNJ1 | c.802C>T (p.Leu268Phe) c.859C>T (p.Leu287Phe) c.853C>T (p.Leu285Phe) | gnomAD v4 COSMIC |
11 | g.128839442G>C | CA383243853 | KCNJ1 | c.802C>G (p.Leu268Val) c.859C>G (p.Leu287Val) c.853C>G (p.Leu285Val) | |
11 | g.128839442G>T | CA383243855 | KCNJ1 | c.802C>A (p.Leu268Ile) c.859C>A (p.Leu287Ile) c.853C>A (p.Leu285Ile) | |
11 | g.128839443A>C | CA477702889 | KCNJ1 | c.801T>G (p.Leu267=) c.858T>G (p.Leu286=) c.852T>G (p.Leu284=) | |
11 | g.128839443A>G | CA477702891 | KCNJ1 | c.801T>C (p.Leu267=) c.858T>C (p.Leu286=) c.852T>C (p.Leu284=) | |
11 | g.128839443A>T | CA477702892 | KCNJ1 | c.801T>A (p.Leu267=) c.858T>A (p.Leu286=) c.852T>A (p.Leu284=) | |
11 | g.128839444A>C | CA383243857 | KCNJ1 | c.800T>G (p.Leu267Arg) c.857T>G (p.Leu286Arg) c.851T>G (p.Leu284Arg) | |
11 | g.128839444A>G | CA383243859 | KCNJ1 | c.800T>C (p.Leu267Pro) c.857T>C (p.Leu286Pro) c.851T>C (p.Leu284Pro) | |
11 | g.128839444A>T | CA383243861 | KCNJ1 | c.800T>A (p.Leu267His) c.857T>A (p.Leu286His) c.851T>A (p.Leu284His) | |
11 | g.128839445G>A | CA383243862 | KCNJ1 | c.799C>T (p.Leu267Phe) c.856C>T (p.Leu286Phe) c.850C>T (p.Leu284Phe) | dbSNP |
11 | g.128839445G>C | CA383243864 | KCNJ1 | c.799C>G (p.Leu267Val) c.856C>G (p.Leu286Val) c.850C>G (p.Leu284Val) | dbSNP gnomAD v2 |
11 | g.128839445G= | CA2008286494 | KCNJ1 | c.799C= (p.Leu267=) c.856C= (p.Leu286=) c.850C= (p.Leu284=) | |
11 | g.128839445G>T | CA383243866 | KCNJ1 | c.799C>A (p.Leu267Ile) c.856C>A (p.Leu286Ile) c.850C>A (p.Leu284Ile) | |
11 | g.128839446G>A | CA6357449 | KCNJ1 | c.798C>T (p.Thr266=) c.855C>T (p.Thr285=) c.849C>T (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839446G>C | CA477702899 | KCNJ1 | c.798C>G (p.Thr266=) c.855C>G (p.Thr285=) c.849C>G (p.Thr283=) | ClinVar |
11 | g.128839446G= | CA2008286496 | KCNJ1 | c.798C= (p.Thr266=) c.855C= (p.Thr285=) c.849C= (p.Thr283=) | |
11 | g.128839446G>T | CA6357448 | KCNJ1 | c.798C>A (p.Thr266=) c.855C>A (p.Thr285=) c.849C>A (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839447G>A | CA383243870 | KCNJ1 | c.797C>T (p.Thr266Ile) c.854C>T (p.Thr285Ile) c.848C>T (p.Thr283Ile) | |
11 | g.128839447G>C | CA383243869 | KCNJ1 | c.797C>G (p.Thr266Ser) c.854C>G (p.Thr285Ser) c.848C>G (p.Thr283Ser) | |
11 | g.128839447G= | CA2008286499 | KCNJ1 | c.797C= (p.Thr266=) c.854C= (p.Thr285=) c.848C= (p.Thr283=) | |
11 | g.128839447G>T | CA383243868 | KCNJ1 | c.797C>A (p.Thr266Asn) c.854C>A (p.Thr285Asn) c.848C>A (p.Thr283Asn) | dbSNP gnomAD v4 |
11 | g.128839448T>A | CA383243871 | KCNJ1 | c.796A>T (p.Thr266Ser) c.853A>T (p.Thr285Ser) c.847A>T (p.Thr283Ser) | |
11 | g.128839448T>C | CA6357450 | KCNJ1 | c.796A>G (p.Thr266Ala) c.853A>G (p.Thr285Ala) c.847A>G (p.Thr283Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839448T>G | CA383243872 | KCNJ1 | c.796A>C (p.Thr266Pro) c.853A>C (p.Thr285Pro) c.847A>C (p.Thr283Pro) | |
11 | g.128839448T= | CA2008286502 | KCNJ1 | c.796A= (p.Thr266=) c.853A= (p.Thr285=) c.847A= (p.Thr283=) | |
11 | g.128839449C>A | CA383243873 | KCNJ1 | c.795G>T (p.Glu265Asp) c.852G>T (p.Glu284Asp) c.846G>T (p.Glu282Asp) | gnomAD v4 |
11 | g.128839449C>G | CA383243874 | KCNJ1 | c.795G>C (p.Glu265Asp) c.852G>C (p.Glu284Asp) c.846G>C (p.Glu282Asp) | |
11 | g.128839449C>T | CA477702904 | KCNJ1 | c.795G>A (p.Glu265=) c.852G>A (p.Glu284=) c.846G>A (p.Glu282=) | |
11 | g.128839450T>A | CA383243875 | KCNJ1 | c.794A>T (p.Glu265Val) c.851A>T (p.Glu284Val) c.845A>T (p.Glu282Val) | |
11 | g.128839450T>C | CA383243876 | KCNJ1 | c.794A>G (p.Glu265Gly) c.851A>G (p.Glu284Gly) c.845A>G (p.Glu282Gly) | |
11 | g.128839450T>G | CA383243877 | KCNJ1 | c.794A>C (p.Glu265Ala) c.851A>C (p.Glu284Ala) c.845A>C (p.Glu282Ala) | |
11 | g.128839451C>A | CA383243878 | KCNJ1 | c.793G>T (p.Glu265Ter) c.850G>T (p.Glu284Ter) c.844G>T (p.Glu282Ter) | dbSNP |
11 | g.128839451C= | CA2008286505 | KCNJ1 | c.793G= (p.Glu265=) c.850G= (p.Glu284=) c.844G= (p.Glu282=) | |
11 | g.128839451C>G | CA383243879 | KCNJ1 | c.793G>C (p.Glu265Gln) c.850G>C (p.Glu284Gln) c.844G>C (p.Glu282Gln) | gnomAD v4 |
11 | g.128839451C>T | CA383243880 | KCNJ1 | c.793G>A (p.Glu265Lys) c.850G>A (p.Glu284Lys) c.844G>A (p.Glu282Lys) | |
11 | g.128839452C>A | CA477702909 | KCNJ1 | c.792G>T (p.Ala264=) c.849G>T (p.Ala283=) c.843G>T (p.Ala281=) | |
11 | g.128839452C= | CA2008286512 | KCNJ1 | c.792G= (p.Ala264=) c.849G= (p.Ala283=) c.843G= (p.Ala281=) | |
11 | g.128839452C>G | CA477702911 | KCNJ1 | c.792G>C (p.Ala264=) c.849G>C (p.Ala283=) c.843G>C (p.Ala281=) | |
11 | g.128839452C>T | CA6357451 | KCNJ1 | c.792G>A (p.Ala264=) c.849G>A (p.Ala283=) c.843G>A (p.Ala281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839453G>A | CA6357452 | KCNJ1 | c.791C>T (p.Ala264Val) c.848C>T (p.Ala283Val) c.842C>T (p.Ala281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839453G>C | CA383243882 | KCNJ1 | c.791C>G (p.Ala264Gly) c.848C>G (p.Ala283Gly) c.842C>G (p.Ala281Gly) | |
11 | g.128839453G= | CA2008286516 | KCNJ1 | c.791C= (p.Ala264=) c.848C= (p.Ala283=) c.842C= (p.Ala281=) | |
11 | g.128839453G>T | CA383243881 | KCNJ1 | c.791C>A (p.Ala264Glu) c.848C>A (p.Ala283Glu) c.842C>A (p.Ala281Glu) | |
11 | g.128839454C>A | CA383243883 | KCNJ1 | c.790G>T (p.Ala264Ser) c.847G>T (p.Ala283Ser) c.841G>T (p.Ala281Ser) | |
11 | g.128839454C= | CA2008286519 | KCNJ1 | c.790G= (p.Ala264=) c.847G= (p.Ala283=) c.841G= (p.Ala281=) | |
11 | g.128839454C>G | CA383243884 | KCNJ1 | c.790G>C (p.Ala264Pro) c.847G>C (p.Ala283Pro) c.841G>C (p.Ala281Pro) | |
11 | g.128839454C>T | CA230628208 | KCNJ1 | c.790G>A (p.Ala264Thr) c.847G>A (p.Ala283Thr) c.841G>A (p.Ala281Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839455T>A | CA477702920 | KCNJ1 | c.789A>T (p.Ala263=) c.846A>T (p.Ala282=) c.840A>T (p.Ala280=) | |
11 | g.128839455T>C | CA477702922 | KCNJ1 | c.789A>G (p.Ala263=) c.846A>G (p.Ala282=) c.840A>G (p.Ala280=) | |
11 | g.128839455T>G | CA477702923 | KCNJ1 | c.789A>C (p.Ala263=) c.846A>C (p.Ala282=) c.840A>C (p.Ala280=) | gnomAD v4 COSMIC |
11 | g.128839456G>A | CA383243885 | KCNJ1 | c.788C>T (p.Ala263Val) c.845C>T (p.Ala282Val) c.839C>T (p.Ala280Val) | COSMIC |
11 | g.128839456G>C | CA6357453 | KCNJ1 | c.788C>G (p.Ala263Gly) c.845C>G (p.Ala282Gly) c.839C>G (p.Ala280Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839456G= | CA2008286522 | KCNJ1 | c.788C= (p.Ala263=) c.845C= (p.Ala282=) c.839C= (p.Ala280=) | |
11 | g.128839456G>T | CA383243886 | KCNJ1 | c.788C>A (p.Ala263Glu) c.845C>A (p.Ala282Glu) c.839C>A (p.Ala280Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839457C>A | CA383243887 | KCNJ1 | c.787G>T (p.Ala263Ser) c.844G>T (p.Ala282Ser) c.838G>T (p.Ala280Ser) | |
11 | g.128839457C>G | CA383243888 | KCNJ1 | c.787G>C (p.Ala263Pro) c.844G>C (p.Ala282Pro) c.838G>C (p.Ala280Pro) | |
11 | g.128839457C>T | CA383243889 | KCNJ1 | c.787G>A (p.Ala263Thr) c.844G>A (p.Ala282Thr) c.838G>A (p.Ala280Thr) | gnomAD v4 |
11 | g.128839458C>A | CA383243890 | KCNJ1 | c.786G>T (p.Met262Ile) c.843G>T (p.Met281Ile) c.837G>T (p.Met279Ile) | |
11 | g.128839458C>G | CA383243891 | KCNJ1 | c.786G>C (p.Met262Ile) c.843G>C (p.Met281Ile) c.837G>C (p.Met279Ile) | |
11 | g.128839458C>T | CA383243892 | KCNJ1 | c.786G>A (p.Met262Ile) c.843G>A (p.Met281Ile) c.837G>A (p.Met279Ile) | gnomAD v4 |
11 | g.128839459A>C | CA383243894 | KCNJ1 | c.785T>G (p.Met262Arg) c.842T>G (p.Met281Arg) c.836T>G (p.Met279Arg) | |
11 | g.128839459A>G | CA383243895 | KCNJ1 | c.785T>C (p.Met262Thr) c.842T>C (p.Met281Thr) c.836T>C (p.Met279Thr) | |
11 | g.128839459A>T | CA383243893 | KCNJ1 | c.785T>A (p.Met262Lys) c.842T>A (p.Met281Lys) c.836T>A (p.Met279Lys) | |
11 | g.128839460T>A | CA383243896 | KCNJ1 | c.784A>T (p.Met262Leu) c.841A>T (p.Met281Leu) c.835A>T (p.Met279Leu) | |
11 | g.128839460T>C | CA383243897 | KCNJ1 | c.784A>G (p.Met262Val) c.841A>G (p.Met281Val) c.835A>G (p.Met279Val) | gnomAD v4 |
11 | g.128839460T>G | CA383243898 | KCNJ1 | c.784A>C (p.Met262Leu) c.841A>C (p.Met281Leu) c.835A>C (p.Met279Leu) | |
11 | g.128839461G>A | CA477702931 | KCNJ1 | c.783C>T (p.His261=) c.840C>T (p.His280=) c.834C>T (p.His278=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839461G>C | CA383243899 | KCNJ1 | c.783C>G (p.His261Gln) c.840C>G (p.His280Gln) c.834C>G (p.His278Gln) | |
11 | g.128839461G= | CA2008286526 | KCNJ1 | c.783C= (p.His261=) c.840C= (p.His280=) c.834C= (p.His278=) | |
11 | g.128839461G>T | CA383243900 | KCNJ1 | c.783C>A (p.His261Gln) c.840C>A (p.His280Gln) c.834C>A (p.His278Gln) | |
11 | g.128839462T>A | CA383243903 | KCNJ1 | c.782A>T (p.His261Leu) c.839A>T (p.His280Leu) c.833A>T (p.His278Leu) | |
11 | g.128839462T>C | CA383243902 | KCNJ1 | c.782A>G (p.His261Arg) c.839A>G (p.His280Arg) c.833A>G (p.His278Arg) | |
11 | g.128839462T>G | CA383243901 | KCNJ1 | c.782A>C (p.His261Pro) c.839A>C (p.His280Pro) c.833A>C (p.His278Pro) | |
11 | g.128839463G>A | CA383243904 | KCNJ1 | c.781C>T (p.His261Tyr) c.838C>T (p.His280Tyr) c.832C>T (p.His278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839463G>C | CA383243905 | KCNJ1 | c.781C>G (p.His261Asp) c.838C>G (p.His280Asp) c.832C>G (p.His278Asp) | |
11 | g.128839463G= | CA2008286529 | KCNJ1 | c.781C= (p.His261=) c.838C= (p.His280=) c.832C= (p.His278=) | |
11 | g.128839463G>T | CA383243906 | KCNJ1 | c.781C>A (p.His261Asn) c.838C>A (p.His280Asn) c.832C>A (p.His278Asn) | |
11 | g.128839464G>A | CA6357454 | KCNJ1 | c.780C>T (p.Phe260=) c.837C>T (p.Phe279=) c.831C>T (p.Phe277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839464G>C | CA383243907 | KCNJ1 | c.780C>G (p.Phe260Leu) c.837C>G (p.Phe279Leu) c.831C>G (p.Phe277Leu) | |
11 | g.128839464G= | CA2008286533 | KCNJ1 | c.780C= (p.Phe260=) c.837C= (p.Phe279=) c.831C= (p.Phe277=) | |
11 | g.128839464G>T | CA383243908 | KCNJ1 | c.780C>A (p.Phe260Leu) c.837C>A (p.Phe279Leu) c.831C>A (p.Phe277Leu) | |
11 | g.128839465A= | CA2008286534 | KCNJ1 | c.779T= (p.Phe260=) c.836T= (p.Phe279=) c.830T= (p.Phe277=) | |
11 | g.128839465A>C | CA383243911 | KCNJ1 | c.779T>G (p.Phe260Cys) c.836T>G (p.Phe279Cys) c.830T>G (p.Phe277Cys) | |
11 | g.128839465A>G | CA383243910 | KCNJ1 | c.779T>C (p.Phe260Ser) c.836T>C (p.Phe279Ser) c.830T>C (p.Phe277Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839465A>T | CA383243909 | KCNJ1 | c.779T>A (p.Phe260Tyr) c.836T>A (p.Phe279Tyr) c.830T>A (p.Phe277Tyr) | |
11 | g.128839466A>C | CA383243912 | KCNJ1 | c.778T>G (p.Phe260Val) c.835T>G (p.Phe279Val) c.829T>G (p.Phe277Val) | |
11 | g.128839466A>G | CA383243913 | KCNJ1 | c.778T>C (p.Phe260Leu) c.835T>C (p.Phe279Leu) c.829T>C (p.Phe277Leu) | |
11 | g.128839466A>T | CA383243914 | KCNJ1 | c.778T>A (p.Phe260Ile) c.835T>A (p.Phe279Ile) c.829T>A (p.Phe277Ile) | COSMIC |
11 | g.128839467G>A | CA477702939 | KCNJ1 | c.777C>T (p.Phe259=) c.834C>T (p.Phe278=) c.828C>T (p.Phe276=) | gnomAD v4 |
11 | g.128839467G>C | CA383243915 | KCNJ1 | c.777C>G (p.Phe259Leu) c.834C>G (p.Phe278Leu) c.828C>G (p.Phe276Leu) | |
11 | g.128839467G>T | CA383243916 | KCNJ1 | c.777C>A (p.Phe259Leu) c.834C>A (p.Phe278Leu) c.828C>A (p.Phe276Leu) | |
11 | g.128839468A= | CA2008286540 | KCNJ1 | c.776T= (p.Phe259=) c.833T= (p.Phe278=) c.827T= (p.Phe276=) | |
11 | g.128839468A>C | CA383243919 | KCNJ1 | c.776T>G (p.Phe259Cys) c.833T>G (p.Phe278Cys) c.827T>G (p.Phe276Cys) | gnomAD v4 |
11 | g.128839468A>G | CA383243918 | KCNJ1 | c.776T>C (p.Phe259Ser) c.833T>C (p.Phe278Ser) c.827T>C (p.Phe276Ser) | dbSNP |
11 | g.128839468A>T | CA383243917 | KCNJ1 | c.776T>A (p.Phe259Tyr) c.833T>A (p.Phe278Tyr) c.827T>A (p.Phe276Tyr) | |
11 | g.128839469A>C | CA383243920 | KCNJ1 | c.775T>G (p.Phe259Val) c.832T>G (p.Phe278Val) c.826T>G (p.Phe276Val) | |
11 | g.128839469A>G | CA383243921 | KCNJ1 | c.775T>C (p.Phe259Leu) c.832T>C (p.Phe278Leu) c.826T>C (p.Phe276Leu) | |
11 | g.128839469A>T | CA383243922 | KCNJ1 | c.775T>A (p.Phe259Ile) c.832T>A (p.Phe278Ile) c.826T>A (p.Phe276Ile) | |
11 | g.128839470A>C | CA477702944 | KCNJ1 | c.774T>G (p.Pro258=) c.831T>G (p.Pro277=) c.825T>G (p.Pro275=) | |
11 | g.128839470A>G | CA477702945 | KCNJ1 | c.774T>C (p.Pro258=) c.831T>C (p.Pro277=) c.825T>C (p.Pro275=) | |
11 | g.128839470A>T | CA477702946 | KCNJ1 | c.774T>A (p.Pro258=) c.831T>A (p.Pro277=) c.825T>A (p.Pro275=) | |
11 | g.128839470_128839471delinsAG | CA2008286544 | KCNJ1 | c.773_774delinsCT (p.Pro258=) c.830_831delinsCT (p.Pro277=) c.824_825delinsCT (p.Pro275=) | |
11 | g.128839471G>A | CA383243923 | KCNJ1 | c.773C>T (p.Pro258Leu) c.830C>T (p.Pro277Leu) c.824C>T (p.Pro275Leu) | |
11 | g.128839471G>C | CA383243924 | KCNJ1 | c.773C>G (p.Pro258Arg) c.830C>G (p.Pro277Arg) c.824C>G (p.Pro275Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839471G= | CA2008286549 | KCNJ1 | c.773C= (p.Pro258=) c.830C= (p.Pro277=) c.824C= (p.Pro275=) | |
11 | g.128839471G>T | CA383243925 | KCNJ1 | c.773C>A (p.Pro258His) c.830C>A (p.Pro277His) c.824C>A (p.Pro275His) | |
11 | g.128839473del | CA673266317 | KCNJ1 | c.773del (p.Pro258LeufsTer17) c.830del (p.Pro277LeufsTer17) c.824del (p.Pro275LeufsTer17) | dbSNP |
11 | g.128839472G>A | CA383243928 | KCNJ1 | c.772C>T (p.Pro258Ser) c.829C>T (p.Pro277Ser) c.823C>T (p.Pro275Ser) | |
11 | g.128839472G>C | CA383243926 | KCNJ1 | c.772C>G (p.Pro258Ala) c.829C>G (p.Pro277Ala) c.823C>G (p.Pro275Ala) | |
11 | g.128839472G>T | CA383243927 | KCNJ1 | c.772C>A (p.Pro258Thr) c.829C>A (p.Pro277Thr) c.823C>A (p.Pro275Thr) | |
11 | g.128839473G>A | CA477702947 | KCNJ1 | c.771C>T (p.Ser257=) c.828C>T (p.Ser276=) c.822C>T (p.Ser274=) | |
11 | g.128839473G>C | CA383243929 | KCNJ1 | c.771C>G (p.Ser257Arg) c.828C>G (p.Ser276Arg) c.822C>G (p.Ser274Arg) | |
11 | g.128839473G>T | CA383243930 | KCNJ1 | c.771C>A (p.Ser257Arg) c.828C>A (p.Ser276Arg) c.822C>A (p.Ser274Arg) | |
11 | g.128839474C>A | CA230628223 | KCNJ1 | c.770G>T (p.Ser257Ile) c.827G>T (p.Ser276Ile) c.821G>T (p.Ser274Ile) | dbSNP |
11 | g.128839474C= | CA2008286552 | KCNJ1 | c.770G= (p.Ser257=) c.827G= (p.Ser276=) c.821G= (p.Ser274=) | |
11 | g.128839474C>G | CA383243931 | KCNJ1 | c.770G>C (p.Ser257Thr) c.827G>C (p.Ser276Thr) c.821G>C (p.Ser274Thr) | |
11 | g.128839474C>T | CA383243932 | KCNJ1 | c.770G>A (p.Ser257Asn) c.827G>A (p.Ser276Asn) c.821G>A (p.Ser274Asn) | gnomAD v4 |
11 | g.128839475T>A | CA383243933 | KCNJ1 | c.769A>T (p.Ser257Cys) c.826A>T (p.Ser276Cys) c.820A>T (p.Ser274Cys) | gnomAD v4 |
11 | g.128839475T>C | CA383243934 | KCNJ1 | c.769A>G (p.Ser257Gly) c.826A>G (p.Ser276Gly) c.820A>G (p.Ser274Gly) | |
11 | g.128839475T>G | CA383243935 | KCNJ1 | c.769A>C (p.Ser257Arg) c.826A>C (p.Ser276Arg) c.820A>C (p.Ser274Arg) | |
11 | g.128839476G>A | CA477702953 | KCNJ1 | c.768C>T (p.Asn256=) c.825C>T (p.Asn275=) c.819C>T (p.Asn273=) | |
11 | g.128839476G>C | CA383243936 | KCNJ1 | c.768C>G (p.Asn256Lys) c.825C>G (p.Asn275Lys) c.819C>G (p.Asn273Lys) | |
11 | g.128839476G>T | CA383243937 | KCNJ1 | c.768C>A (p.Asn256Lys) c.825C>A (p.Asn275Lys) c.819C>A (p.Asn273Lys) | |
11 | g.128839477T>A | CA383243938 | KCNJ1 | c.767A>T (p.Asn256Ile) c.824A>T (p.Asn275Ile) c.818A>T (p.Asn273Ile) | gnomAD v4 |
11 | g.128839477T>C | CA383243939 | KCNJ1 | c.767A>G (p.Asn256Ser) c.824A>G (p.Asn275Ser) c.818A>G (p.Asn273Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839477T>G | CA383243940 | KCNJ1 | c.767A>C (p.Asn256Thr) c.824A>C (p.Asn275Thr) c.818A>C (p.Asn273Thr) | |
11 | g.128839477T= | CA2008286555 | KCNJ1 | c.767A= (p.Asn256=) c.824A= (p.Asn275=) c.818A= (p.Asn273=) | |
11 | g.128839478T>A | CA383243941 | KCNJ1 | c.766A>T (p.Asn256Tyr) c.823A>T (p.Asn275Tyr) c.817A>T (p.Asn273Tyr) | |
11 | g.128839478T>C | CA383243943 | KCNJ1 | c.766A>G (p.Asn256Asp) c.823A>G (p.Asn275Asp) c.817A>G (p.Asn273Asp) | |
11 | g.128839478T>G | CA383243942 | KCNJ1 | c.766A>C (p.Asn256His) c.823A>C (p.Asn275His) c.817A>C (p.Asn273His) | |
11 | g.128839479G>A | CA6357455 | KCNJ1 | c.765C>T (p.His255=) c.822C>T (p.His274=) c.816C>T (p.His272=) | dbSNP ExAC gnomAD v2 |
11 | g.128839479G>C | CA383243944 | KCNJ1 | c.765C>G (p.His255Gln) c.822C>G (p.His274Gln) c.816C>G (p.His272Gln) | |
11 | g.128839479G= | CA2008286558 | KCNJ1 | c.765C= (p.His255=) c.822C= (p.His274=) c.816C= (p.His272=) | |
11 | g.128839479G>T | CA383243945 | KCNJ1 | c.765C>A (p.His255Gln) c.822C>A (p.His274Gln) c.816C>A (p.His272Gln) | gnomAD v4 |
11 | g.128839480T>A | CA383243946 | KCNJ1 | c.764A>T (p.His255Leu) c.821A>T (p.His274Leu) c.815A>T (p.His272Leu) | |
11 | g.128839480T>C | CA383243947 | KCNJ1 | c.764A>G (p.His255Arg) c.821A>G (p.His274Arg) c.815A>G (p.His272Arg) | gnomAD v4 |
11 | g.128839480T>G | CA383243949 | KCNJ1 | c.764A>C (p.His255Pro) c.821A>C (p.His274Pro) c.815A>C (p.His272Pro) | |
11 | g.128839481G>A | CA383243952 | KCNJ1 | c.763C>T (p.His255Tyr) c.820C>T (p.His274Tyr) c.814C>T (p.His272Tyr) | gnomAD v4 |
11 | g.128839481G>C | CA383243950 | KCNJ1 | c.763C>G (p.His255Asp) c.820C>G (p.His274Asp) c.814C>G (p.His272Asp) | |
11 | g.128839481G>T | CA383243951 | KCNJ1 | c.763C>A (p.His255Asn) c.820C>A (p.His274Asn) c.814C>A (p.His272Asn) | |
11 | g.128839482A>C | CA383243953 | KCNJ1 | c.762T>G (p.Asp254Glu) c.819T>G (p.Asp273Glu) c.813T>G (p.Asp271Glu) | |
11 | g.128839482A>G | CA477702959 | KCNJ1 | c.762T>C (p.Asp254=) c.819T>C (p.Asp273=) c.813T>C (p.Asp271=) | |
11 | g.128839482A>T | CA383243954 | KCNJ1 | c.762T>A (p.Asp254Glu) c.819T>A (p.Asp273Glu) c.813T>A (p.Asp271Glu) | |
11 | g.128839483T>A | CA383243955 | KCNJ1 | c.761A>T (p.Asp254Val) c.818A>T (p.Asp273Val) c.812A>T (p.Asp271Val) | gnomAD v4 |
11 | g.128839483T>C | CA383243956 | KCNJ1 | c.761A>G (p.Asp254Gly) c.818A>G (p.Asp273Gly) c.812A>G (p.Asp271Gly) | |
11 | g.128839483T>G | CA383243957 | KCNJ1 | c.761A>C (p.Asp254Ala) c.818A>C (p.Asp273Ala) c.812A>C (p.Asp271Ala) | |
11 | g.128839484C>A | CA383243958 | KCNJ1 | c.760G>T (p.Asp254Tyr) c.817G>T (p.Asp273Tyr) c.811G>T (p.Asp271Tyr) | |
11 | g.128839484C>G | CA383243960 | KCNJ1 | c.760G>C (p.Asp254His) c.817G>C (p.Asp273His) c.811G>C (p.Asp271His) | |
11 | g.128839484C>T | CA383243959 | KCNJ1 | c.760G>A (p.Asp254Asn) c.817G>A (p.Asp273Asn) c.811G>A (p.Asp271Asn) | |
11 | g.128839485A>C | CA383243961 | KCNJ1 | c.759T>G (p.Ile253Met) c.816T>G (p.Ile272Met) c.810T>G (p.Ile270Met) | gnomAD v4 |
11 | g.128839485A>G | CA477702963 | KCNJ1 | c.759T>C (p.Ile253=) c.816T>C (p.Ile272=) c.810T>C (p.Ile270=) | |
11 | g.128839485A>T | CA477702964 | KCNJ1 | c.759T>A (p.Ile253=) c.816T>A (p.Ile272=) c.810T>A (p.Ile270=) |