Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175923T>A | CA400862534 | KCNJ2 | c.884T>A (p.Val295Glu) | |
17 | g.70175923T>C | CA236759 | KCNJ2 | c.884T>C (p.Val295Ala) | ClinVar dbSNP |
17 | g.70175923T>G | CA8738777 | KCNJ2 | c.884T>G (p.Val295Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175923T= | CA2272996728 | KCNJ2 | c.884T= (p.Val295=) | |
17 | g.70175924G>A | CA501700581 | KCNJ2 | c.885G>A (p.Val295=) | ClinVar |
17 | g.70175924G>C | CA501700582 | KCNJ2 | c.885G>C (p.Val295=) | |
17 | g.70175924G>T | CA501700585 | KCNJ2 | c.885G>T (p.Val295=) | |
17 | g.70175925G>A | CA400862537 | KCNJ2 | c.886G>A (p.Val296Ile) | |
17 | g.70175925G>C | CA400862539 | KCNJ2 | c.886G>C (p.Val296Leu) | |
17 | g.70175925G>T | CA400862542 | KCNJ2 | c.886G>T (p.Val296Phe) | gnomAD v4 |
17 | g.70175926T>A | CA400862544 | KCNJ2 | c.887T>A (p.Val296Asp) | gnomAD v4 |
17 | g.70175926T>C | CA400862548 | KCNJ2 | c.887T>C (p.Val296Ala) | ClinVar |
17 | g.70175926T>G | CA400862546 | KCNJ2 | c.887T>G (p.Val296Gly) | |
17 | g.70175927C>A | CA501700592 | KCNJ2 | c.888C>A (p.Val296=) | gnomAD v3 gnomAD v4 |
17 | g.70175927C>G | CA501700594 | KCNJ2 | c.888C>G (p.Val296=) | |
17 | g.70175927C>T | CA501700596 | KCNJ2 | c.888C>T (p.Val296=) | |
17 | g.70175928A= | CA2272996729 | KCNJ2 | c.889A= (p.Ile297=) | |
17 | g.70175928A>C | CA400862550 | KCNJ2 | c.889A>C (p.Ile297Leu) | dbSNP |
17 | g.70175928A>G | CA400862552 | KCNJ2 | c.889A>G (p.Ile297Val) | |
17 | g.70175928A>T | CA400862554 | KCNJ2 | c.889A>T (p.Ile297Leu) | |
17 | g.70175929T>A | CA400862556 | KCNJ2 | c.890T>A (p.Ile297Lys) | |
17 | g.70175929T>C | CA400862558 | KCNJ2 | c.890T>C (p.Ile297Thr) | |
17 | g.70175929T>G | CA400862560 | KCNJ2 | c.890T>G (p.Ile297Arg) | |
17 | g.70175930A>C | CA501700599 | KCNJ2 | c.891A>C (p.Ile297=) | |
17 | g.70175930A>G | CA400862562 | KCNJ2 | c.891A>G (p.Ile297Met) | gnomAD v4 |
17 | g.70175930A>T | CA501700600 | KCNJ2 | c.891A>T (p.Ile297=) | |
17 | g.70175931C>A | CA400862566 | KCNJ2 | c.892C>A (p.Leu298Met) | |
17 | g.70175931C>G | CA400862564 | KCNJ2 | c.892C>G (p.Leu298Val) | |
17 | g.70175931C>T | CA501700603 | KCNJ2 | c.892C>T (p.Leu298=) | |
17 | g.70175932T>A | CA400862568 | KCNJ2 | c.893T>A (p.Leu298Gln) | |
17 | g.70175932T>C | CA400862570 | KCNJ2 | c.893T>C (p.Leu298Pro) | |
17 | g.70175932T>G | CA400862572 | KCNJ2 | c.893T>G (p.Leu298Arg) | |
17 | g.70175935_70175943del | CA2695226996 | KCNJ2 | c.896_904del (p.Glu299_Met301del) | |
17 | g.70175933G>A | CA501700608 | KCNJ2 | c.894G>A (p.Leu298=) | |
17 | g.70175933G>C | CA501700610 | KCNJ2 | c.894G>C (p.Leu298=) | |
17 | g.70175933G>T | CA501700607 | KCNJ2 | c.894G>T (p.Leu298=) | |
17 | g.70175934G>A | CA400862574 | KCNJ2 | c.895G>A (p.Glu299Lys) | |
17 | g.70175934G>C | CA400862576 | KCNJ2 | c.895G>C (p.Glu299Gln) | |
17 | g.70175934G>T | CA400862578 | KCNJ2 | c.895G>T (p.Glu299Ter) | |
17 | g.70175935A= | CA2272996730 | KCNJ2 | c.896A= (p.Glu299=) | |
17 | g.70175935A>C | CA400862580 | KCNJ2 | c.896A>C (p.Glu299Ala) | |
17 | g.70175935A>G | CA400862582 | KCNJ2 | c.896A>G (p.Glu299Gly) | ClinVar dbSNP |
17 | g.70175935A>T | CA302052 | KCNJ2 | c.896A>T (p.Glu299Val) | ClinVar dbSNP |
17 | g.70175936A= | CA2272996731 | KCNJ2 | c.897A= (p.Glu299=) | |
17 | g.70175936A>C | CA400862584 | KCNJ2 | c.897A>C (p.Glu299Asp) | dbSNP |
17 | g.70175936A>G | CA501700617 | KCNJ2 | c.897A>G (p.Glu299=) | |
17 | g.70175936A>T | CA400862585 | KCNJ2 | c.897A>T (p.Glu299Asp) | |
17 | g.70175937G>A | CA400862587 | KCNJ2 | c.898G>A (p.Gly300Ser) | COSMIC |
17 | g.70175937G>C | CA400862589 | KCNJ2 | c.898G>C (p.Gly300Arg) | |
17 | g.70175937G>T | CA400862591 | KCNJ2 | c.898G>T (p.Gly300Cys) | |
17 | g.70175938G>A | CA329702 | KCNJ2 | c.899G>A (p.Gly300Asp) | ClinVar dbSNP |
17 | g.70175938G>C | CA329705 | KCNJ2 | c.899G>C (p.Gly300Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.70175938G= | CA2272996732 | KCNJ2 | c.899G= (p.Gly300=) | |
17 | g.70175938G>T | CA254594 | KCNJ2 | c.899G>T (p.Gly300Val) | ClinVar dbSNP |
17 | g.70175939C>A | CA501700629 | KCNJ2 | c.900C>A (p.Gly300=) | |
17 | g.70175939C>G | CA501700630 | KCNJ2 | c.900C>G (p.Gly300=) | |
17 | g.70175939C>T | CA501700631 | KCNJ2 | c.900C>T (p.Gly300=) | |
17 | g.70175940A= | CA2272996733 | KCNJ2 | c.901A= (p.Met301=) | |
17 | g.70175940A>C | CA16608631 | KCNJ2 | c.901A>C (p.Met301Leu) | ClinVar dbSNP |
17 | g.70175940A>G | CA302055 | KCNJ2 | c.901A>G (p.Met301Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175940A>T | CA400862599 | KCNJ2 | c.901A>T (p.Met301Leu) | |
17 | g.70175941T>A | CA400862603 | KCNJ2 | c.902T>A (p.Met301Lys) | ClinVar |
17 | g.70175941T>C | CA400862606 | KCNJ2 | c.902T>C (p.Met301Thr) | |
17 | g.70175941T>G | CA10577578 | KCNJ2 | c.902T>G (p.Met301Arg) | ClinVar dbSNP |
17 | g.70175941T= | CA2272996734 | KCNJ2 | c.902T= (p.Met301=) | |
17 | g.70175944_70175946del | CA2695226997 | KCNJ2 | c.905_907del (p.Val302del) | |
17 | g.70175942G>A | CA400862609 | KCNJ2 | c.903G>A (p.Met301Ile) | |
17 | g.70175942G>C | CA400862611 | KCNJ2 | c.903G>C (p.Met301Ile) | |
17 | g.70175942G>T | CA400862612 | KCNJ2 | c.903G>T (p.Met301Ile) | |
17 | g.70175943G>A | CA254598 | KCNJ2 | c.904G>A (p.Val302Met) | ClinVar dbSNP |
17 | g.70175943G>C | CA400862615 | KCNJ2 | c.904G>C (p.Val302Leu) | |
17 | g.70175943G= | CA2272996735 | KCNJ2 | c.904G= (p.Val302=) | |
17 | g.70175943G>T | CA400862616 | KCNJ2 | c.904G>T (p.Val302Leu) | |
17 | g.70175944T>A | CA400862619 | KCNJ2 | c.905T>A (p.Val302Glu) | |
17 | g.70175944T>C | CA400862621 | KCNJ2 | c.905T>C (p.Val302Ala) | |
17 | g.70175944T>G | CA400862623 | KCNJ2 | c.905T>G (p.Val302Gly) | dbSNP |
17 | g.70175944T= | CA2272996736 | KCNJ2 | c.905T= (p.Val302=) | |
17 | g.70175945G>A | CA501700643 | KCNJ2 | c.906G>A (p.Val302=) | |
17 | g.70175945G>C | CA501700648 | KCNJ2 | c.906G>C (p.Val302=) | |
17 | g.70175945G>T | CA501700649 | KCNJ2 | c.906G>T (p.Val302=) | |
17 | g.70175946G>A | CA329708 | KCNJ2 | c.907G>A (p.Glu303Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175946G>C | CA400862626 | KCNJ2 | c.907G>C (p.Glu303Gln) | ClinVar dbSNP |
17 | g.70175946G= | CA2272996737 | KCNJ2 | c.907G= (p.Glu303=) | |
17 | g.70175946G>T | CA400862628 | KCNJ2 | c.907G>T (p.Glu303Ter) | |
17 | g.70175947A>C | CA400862632 | KCNJ2 | c.908A>C (p.Glu303Ala) | |
17 | g.70175947A>G | CA400862630 | KCNJ2 | c.908A>G (p.Glu303Gly) | |
17 | g.70175947A>T | CA400862631 | KCNJ2 | c.908A>T (p.Glu303Val) | |
17 | g.70175948A>C | CA400862633 | KCNJ2 | c.909A>C (p.Glu303Asp) | |
17 | g.70175948A>G | CA501700656 | KCNJ2 | c.909A>G (p.Glu303=) | |
17 | g.70175948A>T | CA400862634 | KCNJ2 | c.909A>T (p.Glu303Asp) | |
17 | g.70175949G>A | CA400862635 | KCNJ2 | c.910G>A (p.Ala304Thr) | |
17 | g.70175949G>C | CA400862637 | KCNJ2 | c.910G>C (p.Ala304Pro) | |
17 | g.70175949G>T | CA400862639 | KCNJ2 | c.910G>T (p.Ala304Ser) | |
17 | g.70175950C>A | CA400862641 | KCNJ2 | c.911C>A (p.Ala304Asp) | |
17 | g.70175950C>G | CA400862643 | KCNJ2 | c.911C>G (p.Ala304Gly) | |
17 | g.70175950C>T | CA400862645 | KCNJ2 | c.911C>T (p.Ala304Val) | |
17 | g.70175951C>A | CA501700662 | KCNJ2 | c.912C>A (p.Ala304=) | |
17 | g.70175951C>G | CA501700663 | KCNJ2 | c.912C>G (p.Ala304=) | |
17 | g.70175951C>T | CA501700666 | KCNJ2 | c.912C>T (p.Ala304=) | |
17 | g.70175952A= | CA2272996738 | KCNJ2 | c.913A= (p.Thr305=) | |
17 | g.70175952A>C | CA259745 | KCNJ2 | c.913A>C (p.Thr305Pro) | ClinVar dbSNP |
17 | g.70175952A>G | CA145022 | KCNJ2 | c.913A>G (p.Thr305Ala) | ClinVar dbSNP |
17 | g.70175952A>T | CA400862650 | KCNJ2 | c.913A>T (p.Thr305Ser) | |
17 | g.70175953C>A | CA400862652 | KCNJ2 | c.914C>A (p.Thr305Asn) | |
17 | g.70175953C>G | CA400862655 | KCNJ2 | c.914C>G (p.Thr305Ser) | |
17 | g.70175953C>T | CA400862654 | KCNJ2 | c.914C>T (p.Thr305Ile) | |
17 | g.70175954T>A | CA501700678 | KCNJ2 | c.915T>A (p.Thr305=) | |
17 | g.70175954T>C | CA501700679 | KCNJ2 | c.915T>C (p.Thr305=) | |
17 | g.70175954T>G | CA501700677 | KCNJ2 | c.915T>G (p.Thr305=) | |
17 | g.70175954_70175957delinsTGCC | CA2272996739 | KCNJ2 | c.915_918delinsTGCC (p.Thr305=) | |
17 | g.70175955G>A | CA400862658 | KCNJ2 | c.916G>A (p.Ala306Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175955G>C | CA400862660 | KCNJ2 | c.916G>C (p.Ala306Pro) | |
17 | g.70175955G= | CA2272996740 | KCNJ2 | c.916G= (p.Ala306=) | |
17 | g.70175955G>T | CA400862662 | KCNJ2 | c.916G>T (p.Ala306Ser) | |
17 | g.70175955_70175957del | CA302079 | KCNJ2 | c.916_918del (p.Ala306del) | ClinVar dbSNP |
17 | g.70175956C>A | CA400862668 | KCNJ2 | c.917C>A (p.Ala306Asp) | |
17 | g.70175956C>G | CA400862664 | KCNJ2 | c.917C>G (p.Ala306Gly) | |
17 | g.70175956C>T | CA400862666 | KCNJ2 | c.917C>T (p.Ala306Val) | ClinVar |
17 | g.70175957C>A | CA501700684 | KCNJ2 | c.918C>A (p.Ala306=) | |
17 | g.70175957C= | CA2272996741 | KCNJ2 | c.918C= (p.Ala306=) | |
17 | g.70175957C>G | CA501700686 | KCNJ2 | c.918C>G (p.Ala306=) | |
17 | g.70175957C>T | CA293702929 | KCNJ2 | c.918C>T (p.Ala306=) | dbSNP |
17 | g.70175958A= | CA2272996742 | KCNJ2 | c.919A= (p.Met307=) | |
17 | g.70175958A>C | CA400862670 | KCNJ2 | c.919A>C (p.Met307Leu) | |
17 | g.70175958A>G | CA400862672 | KCNJ2 | c.919A>G (p.Met307Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175958A>T | CA400862674 | KCNJ2 | c.919A>T (p.Met307Leu) | |
17 | g.70175959T>A | CA400862681 | KCNJ2 | c.920T>A (p.Met307Lys) | |
17 | g.70175959T>C | CA400862678 | KCNJ2 | c.920T>C (p.Met307Thr) | |
17 | g.70175959T>G | CA400862677 | KCNJ2 | c.920T>G (p.Met307Arg) | |
17 | g.70175960G>A | CA329711 | KCNJ2 | c.921G>A (p.Met307Ile) | ClinVar dbSNP |
17 | g.70175960G>C | CA400862683 | KCNJ2 | c.921G>C (p.Met307Ile) | |
17 | g.70175960G= | CA2272996743 | KCNJ2 | c.921G= (p.Met307=) | |
17 | g.70175960G>T | CA400862685 | KCNJ2 | c.921G>T (p.Met307Ile) | |
17 | g.70175961A>C | CA400862687 | KCNJ2 | c.922A>C (p.Thr308Pro) | |
17 | g.70175961A>G | CA400862689 | KCNJ2 | c.922A>G (p.Thr308Ala) | |
17 | g.70175961A>T | CA400862691 | KCNJ2 | c.922A>T (p.Thr308Ser) | ClinVar dbSNP |
17 | g.70175962C>A | CA400862692 | KCNJ2 | c.923C>A (p.Thr308Lys) | |
17 | g.70175962C= | CA2272996744 | KCNJ2 | c.923C= (p.Thr308=) | |
17 | g.70175962C>G | CA400862695 | KCNJ2 | c.923C>G (p.Thr308Arg) | |
17 | g.70175962C>T | CA8738778 | KCNJ2 | c.923C>T (p.Thr308Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175963G>A | CA501700700 | KCNJ2 | c.924G>A (p.Thr308=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175963G>C | CA501700702 | KCNJ2 | c.924G>C (p.Thr308=) | |
17 | g.70175963G= | CA2272996745 | KCNJ2 | c.924G= (p.Thr308=) | |
17 | g.70175963G>T | CA501700704 | KCNJ2 | c.924G>T (p.Thr308=) | |
17 | g.70175964A>C | CA400862697 | KCNJ2 | c.925A>C (p.Thr309Pro) | |
17 | g.70175964A>G | CA400862698 | KCNJ2 | c.925A>G (p.Thr309Ala) | |
17 | g.70175964A>T | CA400862700 | KCNJ2 | c.925A>T (p.Thr309Ser) | |
17 | g.70175965C>A | CA400862702 | KCNJ2 | c.926C>A (p.Thr309Lys) | |
17 | g.70175965C= | CA2272996746 | KCNJ2 | c.926C= (p.Thr309=) | |
17 | g.70175965C>G | CA400862703 | KCNJ2 | c.926C>G (p.Thr309Arg) | |
17 | g.70175965C>T | CA329714 | KCNJ2 | c.926C>T (p.Thr309Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.70175966A>C | CA501700855 | KCNJ2 | c.927A>C (p.Thr309=) | |
17 | g.70175966A>G | CA501700856 | KCNJ2 | c.927A>G (p.Thr309=) | |
17 | g.70175966A>T | CA501700857 | KCNJ2 | c.927A>T (p.Thr309=) | |
17 | g.70175967C>A | CA400862705 | KCNJ2 | c.928C>A (p.Gln310Lys) | |
17 | g.70175967C= | CA2272996747 | KCNJ2 | c.928C= (p.Gln310=) | |
17 | g.70175967C>G | CA400862707 | KCNJ2 | c.928C>G (p.Gln310Glu) | dbSNP |
17 | g.70175967C>T | CA400862709 | KCNJ2 | c.928C>T (p.Gln310Ter) | |
17 | g.70175968A= | CA2272996748 | KCNJ2 | c.929A= (p.Gln310=) | |
17 | g.70175968A>C | CA400862710 | KCNJ2 | c.929A>C (p.Gln310Pro) | |
17 | g.70175968A>G | CA400862711 | KCNJ2 | c.929A>G (p.Gln310Arg) | ClinVar dbSNP |
17 | g.70175968A>T | CA400862712 | KCNJ2 | c.929A>T (p.Gln310Leu) | |
17 | g.70175969G>A | CA501700861 | KCNJ2 | c.930G>A (p.Gln310=) | |
17 | g.70175969G>C | CA400862715 | KCNJ2 | c.930G>C (p.Gln310His) | |
17 | g.70175969G>T | CA400862713 | KCNJ2 | c.930G>T (p.Gln310His) | |
17 | g.70175970T>A | CA400862718 | KCNJ2 | c.931T>A (p.Cys311Ser) | |
17 | g.70175970T>C | CA400862719 | KCNJ2 | c.931T>C (p.Cys311Arg) | |
17 | g.70175970T>G | CA400862721 | KCNJ2 | c.931T>G (p.Cys311Gly) | |
17 | g.70175971G>A | CA400862723 | KCNJ2 | c.932G>A (p.Cys311Tyr) | |
17 | g.70175971G>C | CA400862724 | KCNJ2 | c.932G>C (p.Cys311Ser) | |
17 | g.70175971G>T | CA400862726 | KCNJ2 | c.932G>T (p.Cys311Phe) | |
17 | g.70175972C>A | CA400862728 | KCNJ2 | c.933C>A (p.Cys311Ter) | |
17 | g.70175972C>G | CA400862730 | KCNJ2 | c.933C>G (p.Cys311Trp) | |
17 | g.70175972C>T | CA501700863 | KCNJ2 | c.933C>T (p.Cys311=) | COSMIC |
17 | g.70175973C>A | CA400862732 | KCNJ2 | c.934C>A (p.Arg312Ser) | |
17 | g.70175973C= | CA2272996749 | KCNJ2 | c.934C= (p.Arg312=) | |
17 | g.70175973C>G | CA400862734 | KCNJ2 | c.934C>G (p.Arg312Gly) | COSMIC |
17 | g.70175973C>T | CA329717 | KCNJ2 | c.934C>T (p.Arg312Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175974G>A | CA302070 | KCNJ2 | c.935G>A (p.Arg312His) | ClinVar dbSNP gnomAD v4 |
17 | g.70175974G>C | CA400862739 | KCNJ2 | c.935G>C (p.Arg312Pro) | |
17 | g.70175974G= | CA2272996750 | KCNJ2 | c.935G= (p.Arg312=) | |
17 | g.70175974G>T | CA400862741 | KCNJ2 | c.935G>T (p.Arg312Leu) | |
17 | g.70175975T>A | CA501700865 | KCNJ2 | c.936T>A (p.Arg312=) | |
17 | g.70175975T>C | CA501700866 | KCNJ2 | c.936T>C (p.Arg312=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175975T>G | CA501700864 | KCNJ2 | c.936T>G (p.Arg312=) | |
17 | g.70175975T= | CA2272996751 | KCNJ2 | c.936T= (p.Arg312=) | |
17 | g.70175976A>C | CA400862747 | KCNJ2 | c.937A>C (p.Ser313Arg) | |
17 | g.70175976A>G | CA400862745 | KCNJ2 | c.937A>G (p.Ser313Gly) | |
17 | g.70175976A>T | CA400862743 | KCNJ2 | c.937A>T (p.Ser313Cys) | |
17 | g.70175977G>A | CA400862749 | KCNJ2 | c.938G>A (p.Ser313Asn) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175977G>C | CA400862750 | KCNJ2 | c.938G>C (p.Ser313Thr) | |
17 | g.70175977G= | CA2272996752 | KCNJ2 | c.938G= (p.Ser313=) | |
17 | g.70175977G>T | CA400862751 | KCNJ2 | c.938G>T (p.Ser313Ile) | |
17 | g.70175977_70175983delinsGCTCTTA | CA2272996753 | KCNJ2 | c.938_944delinsGCTCTTA (p.Ser313=) | |
17 | g.70175978C>A | CA400862754 | KCNJ2 | c.939C>A (p.Ser313Arg) | |
17 | g.70175978C= | CA2272996754 | KCNJ2 | c.939C= (p.Ser313=) | |
17 | g.70175978C>G | CA400862756 | KCNJ2 | c.939C>G (p.Ser313Arg) | gnomAD v4 |
17 | g.70175978C>T | CA501700868 | KCNJ2 | c.939C>T (p.Ser313=) | dbSNP |
17 | g.70175978_70175983del | CA1139665862 | KCNJ2 | c.939_944del (p.Ser314_Tyr315del) | ClinVar dbSNP |
17 | g.70175979T>A | CA400862758 | KCNJ2 | c.940T>A (p.Ser314Thr) | |
17 | g.70175979T>C | CA400862760 | KCNJ2 | c.940T>C (p.Ser314Pro) | |
17 | g.70175979T>G | CA400862762 | KCNJ2 | c.940T>G (p.Ser314Ala) | |
17 | g.70175979_70175984del | CA2695226998 | KCNJ2 | c.940_945del (p.Ser314_Tyr315del) | |
17 | g.70175980C>A | CA400862764 | KCNJ2 | c.941C>A (p.Ser314Tyr) | |
17 | g.70175980C= | CA2272996755 | KCNJ2 | c.941C= (p.Ser314=) | |
17 | g.70175980C>G | CA400862766 | KCNJ2 | c.941C>G (p.Ser314Cys) | |
17 | g.70175980C>T | CA400862768 | KCNJ2 | c.941C>T (p.Ser314Phe) | ClinVar dbSNP |
17 | g.70175981T>A | CA501700874 | KCNJ2 | c.942T>A (p.Ser314=) | |
17 | g.70175981T>C | CA501700872 | KCNJ2 | c.942T>C (p.Ser314=) | |
17 | g.70175981T>G | CA501700873 | KCNJ2 | c.942T>G (p.Ser314=) | |
17 | g.70175982T>A | CA400862771 | KCNJ2 | c.943T>A (p.Tyr315Asn) | |
17 | g.70175982T>C | CA400862773 | KCNJ2 | c.943T>C (p.Tyr315His) | |
17 | g.70175982T>G | CA400862775 | KCNJ2 | c.943T>G (p.Tyr315Asp) | |
17 | g.70175983A>C | CA400862779 | KCNJ2 | c.944A>C (p.Tyr315Ser) | |
17 | g.70175983A>G | CA400862781 | KCNJ2 | c.944A>G (p.Tyr315Cys) | |
17 | g.70175983A>T | CA400862777 | KCNJ2 | c.944A>T (p.Tyr315Phe) | |
17 | g.70175984T>A | CA400862783 | KCNJ2 | c.945T>A (p.Tyr315Ter) | |
17 | g.70175984T>C | CA501700879 | KCNJ2 | c.945T>C (p.Tyr315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175984T>G | CA400862786 | KCNJ2 | c.945T>G (p.Tyr315Ter) | |
17 | g.70175984T= | CA2272996756 | KCNJ2 | c.945T= (p.Tyr315=) | |
17 | g.70175985C>A | CA400862788 | KCNJ2 | c.946C>A (p.Leu316Ile) | |
17 | g.70175985C>G | CA400862790 | KCNJ2 | c.946C>G (p.Leu316Val) | |
17 | g.70175985C>T | CA501700880 | KCNJ2 | c.946C>T (p.Leu316=) | |
17 | g.70175986T>A | CA400862792 | KCNJ2 | c.947T>A (p.Leu316Gln) | |
17 | g.70175986T>C | CA400862793 | KCNJ2 | c.947T>C (p.Leu316Pro) | |
17 | g.70175986T>G | CA400862795 | KCNJ2 | c.947T>G (p.Leu316Arg) | |
17 | g.70175987A= | CA2272996757 | KCNJ2 | c.948A= (p.Leu316=) | |
17 | g.70175987A>C | CA501700881 | KCNJ2 | c.948A>C (p.Leu316=) | |
17 | g.70175987A>G | CA8738779 | KCNJ2 | c.948A>G (p.Leu316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175987A>T | CA501700883 | KCNJ2 | c.948A>T (p.Leu316=) | |
17 | g.70175988G>A | CA8738780 | KCNJ2 | c.949G>A (p.Ala317Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175988G>C | CA400862799 | KCNJ2 | c.949G>C (p.Ala317Pro) | |
17 | g.70175988G= | CA2272996758 | KCNJ2 | c.949G= (p.Ala317=) | |
17 | g.70175988G>T | CA400862800 | KCNJ2 | c.949G>T (p.Ala317Ser) | |
17 | g.70175989C>A | CA400862803 | KCNJ2 | c.950C>A (p.Ala317Glu) | |
17 | g.70175989C>G | CA400862804 | KCNJ2 | c.950C>G (p.Ala317Gly) | |
17 | g.70175989C>T | CA400862806 | KCNJ2 | c.950C>T (p.Ala317Val) | gnomAD v4 |
17 | g.70175990A>C | CA501700884 | KCNJ2 | c.951A>C (p.Ala317=) | |
17 | g.70175990A>G | CA501700885 | KCNJ2 | c.951A>G (p.Ala317=) | |
17 | g.70175990A>T | CA501700887 | KCNJ2 | c.951A>T (p.Ala317=) | |
17 | g.70175991A= | CA2272996759 | KCNJ2 | c.952A= (p.Asn318=) | |
17 | g.70175991A>C | CA400862812 | KCNJ2 | c.952A>C (p.Asn318His) | |
17 | g.70175991A>G | CA400862808 | KCNJ2 | c.952A>G (p.Asn318Asp) | |
17 | g.70175991A>T | CA400862809 | KCNJ2 | c.952A>T (p.Asn318Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175992A= | CA2272996760 | KCNJ2 | c.953A= (p.Asn318=) | |
17 | g.70175992A>C | CA400862814 | KCNJ2 | c.953A>C (p.Asn318Thr) | |
17 | g.70175992A>G | CA346055 | KCNJ2 | c.953A>G (p.Asn318Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175992A>T | CA400862815 | KCNJ2 | c.953A>T (p.Asn318Ile) | |
17 | g.70175993T>A | CA400862817 | KCNJ2 | c.954T>A (p.Asn318Lys) | |
17 | g.70175993T>C | CA501700889 | KCNJ2 | c.954T>C (p.Asn318=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175993T>G | CA400862819 | KCNJ2 | c.954T>G (p.Asn318Lys) | ClinVar dbSNP |
17 | g.70175993T= | CA2272996761 | KCNJ2 | c.954T= (p.Asn318=) | |
17 | g.70175994G>A | CA400862822 | KCNJ2 | c.955G>A (p.Glu319Lys) | gnomAD v4 |
17 | g.70175994G>C | CA400862824 | KCNJ2 | c.955G>C (p.Glu319Gln) | dbSNP COSMIC |
17 | g.70175994G= | CA2272996762 | KCNJ2 | c.955G= (p.Glu319=) | |
17 | g.70175994G>T | CA400862825 | KCNJ2 | c.955G>T (p.Glu319Ter) | |
17 | g.70175995A>C | CA400862826 | KCNJ2 | c.956A>C (p.Glu319Ala) | |
17 | g.70175995A>G | CA400862828 | KCNJ2 | c.956A>G (p.Glu319Gly) | |
17 | g.70175995A>T | CA400862829 | KCNJ2 | c.956A>T (p.Glu319Val) | |
17 | g.70175996A>C | CA400862830 | KCNJ2 | c.957A>C (p.Glu319Asp) | |
17 | g.70175996A>G | CA501700892 | KCNJ2 | c.957A>G (p.Glu319=) | |
17 | g.70175996A>T | CA400862831 | KCNJ2 | c.957A>T (p.Glu319Asp) | |
17 | g.70175997A>C | CA400862832 | KCNJ2 | c.958A>C (p.Ile320Leu) | |
17 | g.70175997A>G | CA400862834 | KCNJ2 | c.958A>G (p.Ile320Val) | |
17 | g.70175997A>T | CA400862833 | KCNJ2 | c.958A>T (p.Ile320Phe) | |
17 | g.70175998T>A | CA400862835 | KCNJ2 | c.959T>A (p.Ile320Asn) | |
17 | g.70175998T>C | CA400862836 | KCNJ2 | c.959T>C (p.Ile320Thr) | |
17 | g.70175998T>G | CA400862838 | KCNJ2 | c.959T>G (p.Ile320Ser) | |
17 | g.70175999C>A | CA501700893 | KCNJ2 | c.960C>A (p.Ile320=) | |
17 | g.70175999C>G | CA400862839 | KCNJ2 | c.960C>G (p.Ile320Met) | |
17 | g.70175999C>T | CA501700895 | KCNJ2 | c.960C>T (p.Ile320=) | |
17 | g.70176000C>A | CA400862842 | KCNJ2 | c.961C>A (p.Leu321Met) | COSMIC |
17 | g.70176000C= | CA2272996763 | KCNJ2 | c.961C= (p.Leu321=) | |
17 | g.70176000C>G | CA400862844 | KCNJ2 | c.961C>G (p.Leu321Val) | dbSNP |
17 | g.70176000C>T | CA501700896 | KCNJ2 | c.961C>T (p.Leu321=) | gnomAD v4 |
17 | g.70176001T>A | CA400862847 | KCNJ2 | c.962T>A (p.Leu321Gln) | |
17 | g.70176001T>C | CA400862848 | KCNJ2 | c.962T>C (p.Leu321Pro) | |
17 | g.70176001T>G | CA400862851 | KCNJ2 | c.962T>G (p.Leu321Arg) | |
17 | g.70176002G>A | CA501700900 | KCNJ2 | c.963G>A (p.Leu321=) | gnomAD v4 |
17 | g.70176002G>C | CA501700898 | KCNJ2 | c.963G>C (p.Leu321=) | |
17 | g.70176002G>T | CA501700897 | KCNJ2 | c.963G>T (p.Leu321=) | |
17 | g.70176003T>A | CA400862853 | KCNJ2 | c.964T>A (p.Trp322Arg) | |
17 | g.70176003T>C | CA400862855 | KCNJ2 | c.964T>C (p.Trp322Arg) | gnomAD v4 |
17 | g.70176003T>G | CA400862857 | KCNJ2 | c.964T>G (p.Trp322Gly) | |
17 | g.70176004G>A | CA400862862 | KCNJ2 | c.965G>A (p.Trp322Ter) | |
17 | g.70176004G>C | CA400862861 | KCNJ2 | c.965G>C (p.Trp322Ser) | |
17 | g.70176004G>T | CA400862860 | KCNJ2 | c.965G>T (p.Trp322Leu) | |
17 | g.70176005G>A | CA400862865 | KCNJ2 | c.966G>A (p.Trp322Ter) | |
17 | g.70176005G>C | CA347403 | KCNJ2 | c.966G>C (p.Trp322Cys) | ClinVar dbSNP |
17 | g.70176005G= | CA2272996764 | KCNJ2 | c.966G= (p.Trp322=) | |
17 | g.70176005G>T | CA400862867 | KCNJ2 | c.966G>T (p.Trp322Cys) | |
17 | g.70176006G>A | CA400862869 | KCNJ2 | c.967G>A (p.Gly323Ser) | |
17 | g.70176006G>C | CA400862871 | KCNJ2 | c.967G>C (p.Gly323Arg) | |
17 | g.70176006G>T | CA400862873 | KCNJ2 | c.967G>T (p.Gly323Cys) | |
17 | g.70176007G>A | CA400862875 | KCNJ2 | c.968G>A (p.Gly323Asp) | |
17 | g.70176007G>C | CA400862877 | KCNJ2 | c.968G>C (p.Gly323Ala) | |
17 | g.70176007G>T | CA400862879 | KCNJ2 | c.968G>T (p.Gly323Val) | |
17 | g.70176008C>A | CA501700905 | KCNJ2 | c.969C>A (p.Gly323=) | |
17 | g.70176008C>G | CA501700907 | KCNJ2 | c.969C>G (p.Gly323=) | |
17 | g.70176008C>T | CA501700909 | KCNJ2 | c.969C>T (p.Gly323=) | |
17 | g.70176009C>A | CA400862881 | KCNJ2 | c.970C>A (p.His324Asn) | |
17 | g.70176009C>G | CA400862883 | KCNJ2 | c.970C>G (p.His324Asp) | |
17 | g.70176009C>T | CA400862885 | KCNJ2 | c.970C>T (p.His324Tyr) | |
17 | g.70176010A>C | CA400862887 | KCNJ2 | c.971A>C (p.His324Pro) | |
17 | g.70176010A>G | CA400862891 | KCNJ2 | c.971A>G (p.His324Arg) | |
17 | g.70176010A>T | CA400862889 | KCNJ2 | c.971A>T (p.His324Leu) | |
17 | g.70176011C>A | CA400862893 | KCNJ2 | c.972C>A (p.His324Gln) | |
17 | g.70176011C= | CA2272996765 | KCNJ2 | c.972C= (p.His324=) | |
17 | g.70176011C>G | CA400862896 | KCNJ2 | c.972C>G (p.His324Gln) | |
17 | g.70176011C>T | CA8738781 | KCNJ2 | c.972C>T (p.His324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70176012C>A | CA400862898 | KCNJ2 | c.973C>A (p.Arg325Ser) | |
17 | g.70176012C= | CA2272996766 | KCNJ2 | c.973C= (p.Arg325=) | |
17 | g.70176012C>G | CA400862900 | KCNJ2 | c.973C>G (p.Arg325Gly) | |
17 | g.70176012C>T | CA302073 | KCNJ2 | c.973C>T (p.Arg325Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70176013G>A | CA400862902 | KCNJ2 | c.974G>A (p.Arg325His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.70176013G>C | CA400862907 | KCNJ2 | c.974G>C (p.Arg325Pro) | |
17 | g.70176013G= | CA2272996767 | KCNJ2 | c.974G= (p.Arg325=) | |
17 | g.70176013G>T | CA400862909 | KCNJ2 | c.974G>T (p.Arg325Leu) | |
17 | g.70176014C>A | CA501700911 | KCNJ2 | c.975C>A (p.Arg325=) | |
17 | g.70176014C>G | CA501700912 | KCNJ2 | c.975C>G (p.Arg325=) | |
17 | g.70176014C>T | CA501700913 | KCNJ2 | c.975C>T (p.Arg325=) | gnomAD v4 |
17 | g.70176015T>A | CA302058 | KCNJ2 | c.976T>A (p.Tyr326Asn) | ClinVar dbSNP |
17 | g.70176015T>C | CA400862911 | KCNJ2 | c.976T>C (p.Tyr326His) | |
17 | g.70176015T>G | CA400862912 | KCNJ2 | c.976T>G (p.Tyr326Asp) | |
17 | g.70176015T= | CA2272996768 | KCNJ2 | c.976T= (p.Tyr326=) | |
17 | g.70176016A>C | CA400862919 | KCNJ2 | c.977A>C (p.Tyr326Ser) | |
17 | g.70176016A>G | CA400862920 | KCNJ2 | c.977A>G (p.Tyr326Cys) | |
17 | g.70176016A>T | CA400862921 | KCNJ2 | c.977A>T (p.Tyr326Phe) | |
17 | g.70176017T>A | CA400862924 | KCNJ2 | c.978T>A (p.Tyr326Ter) | |
17 | g.70176017T>C | CA501700915 | KCNJ2 | c.978T>C (p.Tyr326=) | |
17 | g.70176017T>G | CA400862926 | KCNJ2 | c.978T>G (p.Tyr326Ter) | |
17 | g.70176018G>A | CA400862928 | KCNJ2 | c.979G>A (p.Glu327Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.70176018G>C | CA400862931 | KCNJ2 | c.979G>C (p.Glu327Gln) | |
17 | g.70176018G= | CA2272996769 | KCNJ2 | c.979G= (p.Glu327=) | |
17 | g.70176018G>T | CA400862930 | KCNJ2 | c.979G>T (p.Glu327Ter) | |
17 | g.70176019A>C | CA400862933 | KCNJ2 | c.980A>C (p.Glu327Ala) | |
17 | g.70176019A>G | CA400862935 | KCNJ2 | c.980A>G (p.Glu327Gly) | |
17 | g.70176019A>T | CA400862936 | KCNJ2 | c.980A>T (p.Glu327Val) | |
17 | g.70176020G>A | CA501700918 | KCNJ2 | c.981G>A (p.Glu327=) | |
17 | g.70176020G>C | CA400862939 | KCNJ2 | c.981G>C (p.Glu327Asp) | |
17 | g.70176020G>T | CA400862941 | KCNJ2 | c.981G>T (p.Glu327Asp) | |
17 | g.70176021C>A | CA400862943 | KCNJ2 | c.982C>A (p.Pro328Thr) | |
17 | g.70176021C>G | CA400862945 | KCNJ2 | c.982C>G (p.Pro328Ala) | |
17 | g.70176021C>T | CA400862946 | KCNJ2 | c.982C>T (p.Pro328Ser) | dbSNP gnomAD v4 COSMIC |
17 | g.70176022C>A | CA400862949 | KCNJ2 | c.983C>A (p.Pro328His) | |
17 | g.70176022C>G | CA400862951 | KCNJ2 | c.983C>G (p.Pro328Arg) | |
17 | g.70176022C>T | CA400862952 | KCNJ2 | c.983C>T (p.Pro328Leu) | |
17 | g.70176023T>A | CA501700921 | KCNJ2 | c.984T>A (p.Pro328=) | |
17 | g.70176023T>C | CA293702930 | KCNJ2 | c.984T>C (p.Pro328=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70176023T>G | CA501700922 | KCNJ2 | c.984T>G (p.Pro328=) | |
17 | g.70176023T= | CA2272996770 | KCNJ2 | c.984T= (p.Pro328=) |