Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175465C>A | CA501700623 | KCNJ2 | c.426C>A (p.Thr142=) | |
17 | g.70175465C>G | CA501700622 | KCNJ2 | c.426C>G (p.Thr142=) | ClinVar |
17 | g.70175465C>T | CA501700621 | KCNJ2 | c.426C>T (p.Thr142=) | |
17 | g.70175466A>C | CA400860575 | KCNJ2 | c.427A>C (p.Ile143Leu) | |
17 | g.70175466A>G | CA400860576 | KCNJ2 | c.427A>G (p.Ile143Val) | gnomAD v4 |
17 | g.70175466A>T | CA400860574 | KCNJ2 | c.427A>T (p.Ile143Leu) | |
17 | g.70175467T>A | CA400860577 | KCNJ2 | c.428T>A (p.Ile143Lys) | |
17 | g.70175467T>C | CA400860578 | KCNJ2 | c.428T>C (p.Ile143Thr) | |
17 | g.70175467T>G | CA400860579 | KCNJ2 | c.428T>G (p.Ile143Arg) | |
17 | g.70175468A>C | CA501700627 | KCNJ2 | c.429A>C (p.Ile143=) | |
17 | g.70175468A>G | CA400860580 | KCNJ2 | c.429A>G (p.Ile143Met) | |
17 | g.70175468A>T | CA501700628 | KCNJ2 | c.429A>T (p.Ile143=) | |
17 | g.70175469G>A | CA329666 | KCNJ2 | c.430G>A (p.Gly144Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175469G>C | CA400860582 | KCNJ2 | c.430G>C (p.Gly144Arg) | |
17 | g.70175469G= | CA2272996571 | KCNJ2 | c.430G= (p.Gly144=) | |
17 | g.70175469G>T | CA400860581 | KCNJ2 | c.430G>T (p.Gly144Cys) | |
17 | g.70175470G>A | CA329669 | KCNJ2 | c.431G>A (p.Gly144Asp) | ClinVar dbSNP |
17 | g.70175470G>C | CA329672 | KCNJ2 | c.431G>C (p.Gly144Ala) | ClinVar dbSNP |
17 | g.70175470G= | CA2272996572 | KCNJ2 | c.431G= (p.Gly144=) | |
17 | g.70175470G>T | CA400860583 | KCNJ2 | c.431G>T (p.Gly144Val) | ClinVar |
17 | g.70175471C>A | CA501700635 | KCNJ2 | c.432C>A (p.Gly144=) | dbSNP |
17 | g.70175471C= | CA2272996573 | KCNJ2 | c.432C= (p.Gly144=) | |
17 | g.70175471C>G | CA501700636 | KCNJ2 | c.432C>G (p.Gly144=) | |
17 | g.70175471C>T | CA501700637 | KCNJ2 | c.432C>T (p.Gly144=) | |
17 | g.70175472T>A | CA400860584 | KCNJ2 | c.433T>A (p.Tyr145Asn) | |
17 | g.70175472T>C | CA400860585 | KCNJ2 | c.433T>C (p.Tyr145His) | |
17 | g.70175472T>G | CA400860586 | KCNJ2 | c.433T>G (p.Tyr145Asp) | |
17 | g.70175473A= | CA2272996574 | KCNJ2 | c.434A= (p.Tyr145=) | |
17 | g.70175473A>C | CA400860587 | KCNJ2 | c.434A>C (p.Tyr145Ser) | |
17 | g.70175473A>G | CA400860589 | KCNJ2 | c.434A>G (p.Tyr145Cys) | ClinVar dbSNP |
17 | g.70175473A>T | CA400860588 | KCNJ2 | c.434A>T (p.Tyr145Phe) | COSMIC |
17 | g.70175474T>A | CA400860590 | KCNJ2 | c.435T>A (p.Tyr145Ter) | |
17 | g.70175474T>C | CA8738728 | KCNJ2 | c.435T>C (p.Tyr145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175474T>G | CA400860591 | KCNJ2 | c.435T>G (p.Tyr145Ter) | |
17 | g.70175474T= | CA2272996575 | KCNJ2 | c.435T= (p.Tyr145=) | |
17 | g.70175475G>A | CA329675 | KCNJ2 | c.436G>A (p.Gly146Ser) | ClinVar dbSNP |
17 | g.70175475G>C | CA400860592 | KCNJ2 | c.436G>C (p.Gly146Arg) | ClinVar dbSNP |
17 | g.70175475G= | CA2272996576 | KCNJ2 | c.436G= (p.Gly146=) | |
17 | g.70175475G>T | CA400860593 | KCNJ2 | c.436G>T (p.Gly146Cys) | |
17 | g.70175476G>A | CA329678 | KCNJ2 | c.437G>A (p.Gly146Asp) | ClinVar dbSNP |
17 | g.70175476G>C | CA329681 | KCNJ2 | c.437G>C (p.Gly146Ala) | ClinVar dbSNP |
17 | g.70175476G= | CA2272996577 | KCNJ2 | c.437G= (p.Gly146=) | |
17 | g.70175476G>T | CA400860594 | KCNJ2 | c.437G>T (p.Gly146Val) | |
17 | g.70175477T>A | CA501700645 | KCNJ2 | c.438T>A (p.Gly146=) | |
17 | g.70175477T>C | CA501700647 | KCNJ2 | c.438T>C (p.Gly146=) | |
17 | g.70175477T>G | CA501700650 | KCNJ2 | c.438T>G (p.Gly146=) | |
17 | g.70175478T>A | CA400860595 | KCNJ2 | c.439T>A (p.Phe147Ile) | |
17 | g.70175478T>C | CA400860596 | KCNJ2 | c.439T>C (p.Phe147Leu) | |
17 | g.70175478T>G | CA400860597 | KCNJ2 | c.439T>G (p.Phe147Val) | |
17 | g.70175479T>A | CA400860598 | KCNJ2 | c.440T>A (p.Phe147Tyr) | gnomAD v4 |
17 | g.70175479T>C | CA400860599 | KCNJ2 | c.440T>C (p.Phe147Ser) | |
17 | g.70175479T>G | CA400860600 | KCNJ2 | c.440T>G (p.Phe147Cys) | |
17 | g.70175480C>A | CA400860601 | KCNJ2 | c.441C>A (p.Phe147Leu) | |
17 | g.70175480C>G | CA400860602 | KCNJ2 | c.441C>G (p.Phe147Leu) | |
17 | g.70175480C>T | CA501700653 | KCNJ2 | c.441C>T (p.Phe147=) | gnomAD v4 |
17 | g.70175481A>C | CA501700655 | KCNJ2 | c.442A>C (p.Arg148=) | |
17 | g.70175481A>G | CA400860603 | KCNJ2 | c.442A>G (p.Arg148Gly) | |
17 | g.70175481A>T | CA400860604 | KCNJ2 | c.442A>T (p.Arg148Ter) | |
17 | g.70175482G>A | CA400860605 | KCNJ2 | c.443G>A (p.Arg148Lys) | |
17 | g.70175482G>C | CA400860606 | KCNJ2 | c.443G>C (p.Arg148Thr) | |
17 | g.70175482G>T | CA400860607 | KCNJ2 | c.443G>T (p.Arg148Ile) | COSMIC |
17 | g.70175483A= | CA2272996578 | KCNJ2 | c.444A= (p.Arg148=) | |
17 | g.70175483A>C | CA400860608 | KCNJ2 | c.444A>C (p.Arg148Ser) | |
17 | g.70175483A>G | CA8738729 | KCNJ2 | c.444A>G (p.Arg148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175483A>T | CA400860609 | KCNJ2 | c.444A>T (p.Arg148Ser) | |
17 | g.70175484T>A | CA400860610 | KCNJ2 | c.445T>A (p.Cys149Ser) | |
17 | g.70175484T>C | CA400860611 | KCNJ2 | c.445T>C (p.Cys149Arg) | |
17 | g.70175484T>G | CA400860612 | KCNJ2 | c.445T>G (p.Cys149Gly) | |
17 | g.70175485G>A | CA400860613 | KCNJ2 | c.446G>A (p.Cys149Tyr) | |
17 | g.70175485G>C | CA400860614 | KCNJ2 | c.446G>C (p.Cys149Ser) | |
17 | g.70175485G>T | CA400860615 | KCNJ2 | c.446G>T (p.Cys149Phe) | |
17 | g.70175486T>A | CA400860616 | KCNJ2 | c.447T>A (p.Cys149Ter) | |
17 | g.70175486T>C | CA501700669 | KCNJ2 | c.447T>C (p.Cys149=) | dbSNP |
17 | g.70175486T>G | CA400860617 | KCNJ2 | c.447T>G (p.Cys149Trp) | |
17 | g.70175486T= | CA2272996579 | KCNJ2 | c.447T= (p.Cys149=) | |
17 | g.70175487G>A | CA400860618 | KCNJ2 | c.448G>A (p.Val150Ile) | |
17 | g.70175487G>C | CA400860619 | KCNJ2 | c.448G>C (p.Val150Leu) | |
17 | g.70175487G>T | CA400860620 | KCNJ2 | c.448G>T (p.Val150Phe) | |
17 | g.70175488T>A | CA400860621 | KCNJ2 | c.449T>A (p.Val150Asp) | |
17 | g.70175488T>C | CA400860622 | KCNJ2 | c.449T>C (p.Val150Ala) | |
17 | g.70175488T>G | CA400860623 | KCNJ2 | c.449T>G (p.Val150Gly) | |
17 | g.70175489C>A | CA501700676 | KCNJ2 | c.450C>A (p.Val150=) | gnomAD v4 |
17 | g.70175489C>G | CA501700674 | KCNJ2 | c.450C>G (p.Val150=) | |
17 | g.70175489C>T | CA501700675 | KCNJ2 | c.450C>T (p.Val150=) | |
17 | g.70175490A>C | CA400860624 | KCNJ2 | c.451A>C (p.Thr151Pro) | |
17 | g.70175490A>G | CA400860625 | KCNJ2 | c.451A>G (p.Thr151Ala) | |
17 | g.70175490A>T | CA400860626 | KCNJ2 | c.451A>T (p.Thr151Ser) | |
17 | g.70175491C>A | CA400860627 | KCNJ2 | c.452C>A (p.Thr151Lys) | |
17 | g.70175491C= | CA2272996580 | KCNJ2 | c.452C= (p.Thr151=) | |
17 | g.70175491C>G | CA400860628 | KCNJ2 | c.452C>G (p.Thr151Arg) | |
17 | g.70175491C>T | CA8738730 | KCNJ2 | c.452C>T (p.Thr151Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175492G>A | CA8738731 | KCNJ2 | c.453G>A (p.Thr151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175492G>C | CA501700683 | KCNJ2 | c.453G>C (p.Thr151=) | ClinVar dbSNP |
17 | g.70175492G= | CA2272996581 | KCNJ2 | c.453G= (p.Thr151=) | |
17 | g.70175492G>T | CA501700682 | KCNJ2 | c.453G>T (p.Thr151=) | |
17 | g.70175493G>A | CA400860630 | KCNJ2 | c.454G>A (p.Asp152Asn) | |
17 | g.70175493G>C | CA400860631 | KCNJ2 | c.454G>C (p.Asp152His) | |
17 | g.70175493G>T | CA400860629 | KCNJ2 | c.454G>T (p.Asp152Tyr) | |
17 | g.70175494A>C | CA400860632 | KCNJ2 | c.455A>C (p.Asp152Ala) | |
17 | g.70175494A>G | CA400860633 | KCNJ2 | c.455A>G (p.Asp152Gly) | |
17 | g.70175494A>T | CA400860634 | KCNJ2 | c.455A>T (p.Asp152Val) | |
17 | g.70175495T>A | CA400860635 | KCNJ2 | c.456T>A (p.Asp152Glu) | |
17 | g.70175495T>C | CA501700685 | KCNJ2 | c.456T>C (p.Asp152=) | |
17 | g.70175495T>G | CA400860636 | KCNJ2 | c.456T>G (p.Asp152Glu) | dbSNP |
17 | g.70175495T= | CA2272996582 | KCNJ2 | c.456T= (p.Asp152=) | |
17 | g.70175496del | CA2695226995 | KCNJ2 | c.457del (p.Glu153AsnfsTer?) | |
17 | g.70175496G>A | CA400860639 | KCNJ2 | c.457G>A (p.Glu153Lys) | |
17 | g.70175496G>C | CA400860637 | KCNJ2 | c.457G>C (p.Glu153Gln) | |
17 | g.70175496G>T | CA400860638 | KCNJ2 | c.457G>T (p.Glu153Ter) | |
17 | g.70175497A>C | CA400860640 | KCNJ2 | c.458A>C (p.Glu153Ala) | |
17 | g.70175497A>G | CA400860641 | KCNJ2 | c.458A>G (p.Glu153Gly) | |
17 | g.70175497A>T | CA400860642 | KCNJ2 | c.458A>T (p.Glu153Val) | |
17 | g.70175498A= | CA2272996583 | KCNJ2 | c.459A= (p.Glu153=) | |
17 | g.70175498A>C | CA400860643 | KCNJ2 | c.459A>C (p.Glu153Asp) | ClinVar gnomAD v4 |
17 | g.70175498A>G | CA501700692 | KCNJ2 | c.459A>G (p.Glu153=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175498A>T | CA400860644 | KCNJ2 | c.459A>T (p.Glu153Asp) | |
17 | g.70175499T>A | CA400860645 | KCNJ2 | c.460T>A (p.Cys154Ser) | |
17 | g.70175499T>C | CA400860647 | KCNJ2 | c.460T>C (p.Cys154Arg) | |
17 | g.70175499T>G | CA400860646 | KCNJ2 | c.460T>G (p.Cys154Gly) | ClinVar dbSNP |
17 | g.70175500G>A | CA400860648 | KCNJ2 | c.461G>A (p.Cys154Tyr) | ClinVar dbSNP |
17 | g.70175500G>C | CA400860649 | KCNJ2 | c.461G>C (p.Cys154Ser) | |
17 | g.70175500G= | CA2272996584 | KCNJ2 | c.461G= (p.Cys154=) | |
17 | g.70175500G>T | CA329684 | KCNJ2 | c.461G>T (p.Cys154Phe) | ClinVar dbSNP |
17 | g.70175501C>A | CA400860650 | KCNJ2 | c.462C>A (p.Cys154Ter) | |
17 | g.70175501C= | CA2272996585 | KCNJ2 | c.462C= (p.Cys154=) | |
17 | g.70175501C>G | CA400860651 | KCNJ2 | c.462C>G (p.Cys154Trp) | |
17 | g.70175501C>T | CA501700694 | KCNJ2 | c.462C>T (p.Cys154=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175502C>A | CA400860652 | KCNJ2 | c.463C>A (p.Pro155Thr) | |
17 | g.70175502C= | CA2272996586 | KCNJ2 | c.463C= (p.Pro155=) | |
17 | g.70175502C>G | CA400860653 | KCNJ2 | c.463C>G (p.Pro155Ala) | |
17 | g.70175502C>T | CA400860654 | KCNJ2 | c.463C>T (p.Pro155Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175503C>A | CA400860655 | KCNJ2 | c.464C>A (p.Pro155Gln) | |
17 | g.70175503C>G | CA400860656 | KCNJ2 | c.464C>G (p.Pro155Arg) | |
17 | g.70175503C>T | CA400860657 | KCNJ2 | c.464C>T (p.Pro155Leu) | |
17 | g.70175504A= | CA2272996587 | KCNJ2 | c.465A= (p.Pro155=) | |
17 | g.70175504A>C | CA501700699 | KCNJ2 | c.465A>C (p.Pro155=) | dbSNP |
17 | g.70175504A>G | CA8738732 | KCNJ2 | c.465A>G (p.Pro155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175504A>T | CA501700701 | KCNJ2 | c.465A>T (p.Pro155=) | |
17 | g.70175505A= | CA2272996588 | KCNJ2 | c.466A= (p.Ile156=) | |
17 | g.70175505A>C | CA400860658 | KCNJ2 | c.466A>C (p.Ile156Leu) | |
17 | g.70175505A>G | CA8738733 | KCNJ2 | c.466A>G (p.Ile156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175505A>T | CA400860659 | KCNJ2 | c.466A>T (p.Ile156Phe) | |
17 | g.70175506T>A | CA400860660 | KCNJ2 | c.467T>A (p.Ile156Asn) | |
17 | g.70175506T>C | CA293702915 | KCNJ2 | c.467T>C (p.Ile156Thr) | dbSNP |
17 | g.70175506T>G | CA400860661 | KCNJ2 | c.467T>G (p.Ile156Ser) | |
17 | g.70175506T= | CA2272996589 | KCNJ2 | c.467T= (p.Ile156=) | |
17 | g.70175507T>A | CA501700708 | KCNJ2 | c.468T>A (p.Ile156=) | |
17 | g.70175507T>C | CA501700707 | KCNJ2 | c.468T>C (p.Ile156=) | |
17 | g.70175507T>G | CA400860662 | KCNJ2 | c.468T>G (p.Ile156Met) | |
17 | g.70175508G>A | CA400860663 | KCNJ2 | c.469G>A (p.Ala157Thr) | |
17 | g.70175508G>C | CA400860664 | KCNJ2 | c.469G>C (p.Ala157Pro) | |
17 | g.70175508G>T | CA400860665 | KCNJ2 | c.469G>T (p.Ala157Ser) | |
17 | g.70175509C>A | CA400860666 | KCNJ2 | c.470C>A (p.Ala157Asp) | |
17 | g.70175509C>G | CA400860667 | KCNJ2 | c.470C>G (p.Ala157Gly) | |
17 | g.70175509C>T | CA400860668 | KCNJ2 | c.470C>T (p.Ala157Val) | |
17 | g.70175510T>A | CA501700710 | KCNJ2 | c.471T>A (p.Ala157=) | |
17 | g.70175510T>C | CA501700711 | KCNJ2 | c.471T>C (p.Ala157=) | |
17 | g.70175510T>G | CA501700712 | KCNJ2 | c.471T>G (p.Ala157=) | gnomAD v4 |
17 | g.70175511G>A | CA400860669 | KCNJ2 | c.472G>A (p.Val158Ile) | dbSNP |
17 | g.70175511G>C | CA400860670 | KCNJ2 | c.472G>C (p.Val158Leu) | |
17 | g.70175511G= | CA2272996590 | KCNJ2 | c.472G= (p.Val158=) | |
17 | g.70175511G>T | CA400860671 | KCNJ2 | c.472G>T (p.Val158Phe) | gnomAD v4 |
17 | g.70175512T>A | CA400860673 | KCNJ2 | c.473T>A (p.Val158Asp) | dbSNP |
17 | g.70175512T>C | CA400860674 | KCNJ2 | c.473T>C (p.Val158Ala) | |
17 | g.70175512T>G | CA400860672 | KCNJ2 | c.473T>G (p.Val158Gly) | |
17 | g.70175513T>A | CA501700715 | KCNJ2 | c.474T>A (p.Val158=) | |
17 | g.70175513T>C | CA501700716 | KCNJ2 | c.474T>C (p.Val158=) | gnomAD v4 |
17 | g.70175513T>G | CA501700717 | KCNJ2 | c.474T>G (p.Val158=) | |
17 | g.70175514T>A | CA400860675 | KCNJ2 | c.475T>A (p.Phe159Ile) | |
17 | g.70175514T>C | CA400860676 | KCNJ2 | c.475T>C (p.Phe159Leu) | |
17 | g.70175514T>G | CA400860677 | KCNJ2 | c.475T>G (p.Phe159Val) | |
17 | g.70175515T>A | CA400860678 | KCNJ2 | c.476T>A (p.Phe159Tyr) | |
17 | g.70175515T>C | CA400860679 | KCNJ2 | c.476T>C (p.Phe159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175515T>G | CA400860680 | KCNJ2 | c.476T>G (p.Phe159Cys) | |
17 | g.70175515T= | CA2272996591 | KCNJ2 | c.476T= (p.Phe159=) | |
17 | g.70175516C>A | CA8738734 | KCNJ2 | c.477C>A (p.Phe159Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175516C= | CA2272996592 | KCNJ2 | c.477C= (p.Phe159=) | |
17 | g.70175516C>G | CA400860681 | KCNJ2 | c.477C>G (p.Phe159Leu) | gnomAD v4 |
17 | g.70175516C>T | CA501700723 | KCNJ2 | c.477C>T (p.Phe159=) | COSMIC |
17 | g.70175517A= | CA2272996593 | KCNJ2 | c.478A= (p.Met160=) | |
17 | g.70175517A>C | CA400860682 | KCNJ2 | c.478A>C (p.Met160Leu) | |
17 | g.70175517A>G | CA400860683 | KCNJ2 | c.478A>G (p.Met160Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175517A>T | CA400860684 | KCNJ2 | c.478A>T (p.Met160Leu) | dbSNP gnomAD v2 |
17 | g.70175518T>A | CA400860685 | KCNJ2 | c.479T>A (p.Met160Lys) | |
17 | g.70175518T>C | CA400860686 | KCNJ2 | c.479T>C (p.Met160Thr) | |
17 | g.70175518T>G | CA400860687 | KCNJ2 | c.479T>G (p.Met160Arg) | |
17 | g.70175519G>A | CA400860688 | KCNJ2 | c.480G>A (p.Met160Ile) | |
17 | g.70175519G>C | CA400860690 | KCNJ2 | c.480G>C (p.Met160Ile) | |
17 | g.70175519G>T | CA400860689 | KCNJ2 | c.480G>T (p.Met160Ile) | |
17 | g.70175520G>A | CA400860691 | KCNJ2 | c.481G>A (p.Val161Met) | ClinVar dbSNP |
17 | g.70175520G>C | CA400860692 | KCNJ2 | c.481G>C (p.Val161Leu) | |
17 | g.70175520G= | CA2272996594 | KCNJ2 | c.481G= (p.Val161=) | |
17 | g.70175520G>T | CA400860693 | KCNJ2 | c.481G>T (p.Val161Leu) | |
17 | g.70175521T>A | CA400860694 | KCNJ2 | c.482T>A (p.Val161Glu) | |
17 | g.70175521T>C | CA400860695 | KCNJ2 | c.482T>C (p.Val161Ala) | gnomAD v4 |
17 | g.70175521T>G | CA400860696 | KCNJ2 | c.482T>G (p.Val161Gly) | |
17 | g.70175522G>A | CA501700728 | KCNJ2 | c.483G>A (p.Val161=) | dbSNP |
17 | g.70175522G>C | CA501700729 | KCNJ2 | c.483G>C (p.Val161=) | gnomAD v4 |
17 | g.70175522G= | CA2272996595 | KCNJ2 | c.483G= (p.Val161=) | |
17 | g.70175522G>T | CA501700730 | KCNJ2 | c.483G>T (p.Val161=) | |
17 | g.70175523G>A | CA400860697 | KCNJ2 | c.484G>A (p.Val162Met) | dbSNP |
17 | g.70175523G>C | CA400860698 | KCNJ2 | c.484G>C (p.Val162Leu) | |
17 | g.70175523G>T | CA400860699 | KCNJ2 | c.484G>T (p.Val162Leu) | gnomAD v4 |
17 | g.70175524T>A | CA400860700 | KCNJ2 | c.485T>A (p.Val162Glu) | |
17 | g.70175524T>C | CA400860701 | KCNJ2 | c.485T>C (p.Val162Ala) | |
17 | g.70175524T>G | CA400860702 | KCNJ2 | c.485T>G (p.Val162Gly) | |
17 | g.70175525G>A | CA501700737 | KCNJ2 | c.486G>A (p.Val162=) | dbSNP |
17 | g.70175525G>C | CA501700736 | KCNJ2 | c.486G>C (p.Val162=) | |
17 | g.70175525G= | CA2272996596 | KCNJ2 | c.486G= (p.Val162=) | |
17 | g.70175525G>T | CA501700735 | KCNJ2 | c.486G>T (p.Val162=) | |
17 | g.70175527_70175532del | CA658820863 | KCNJ2 | c.488_493del (p.Phe163_Gln164del) | |
17 | g.70175526T>A | CA400860704 | KCNJ2 | c.487T>A (p.Phe163Ile) | |
17 | g.70175526T>C | CA400860705 | KCNJ2 | c.487T>C (p.Phe163Leu) | |
17 | g.70175526T>G | CA400860703 | KCNJ2 | c.487T>G (p.Phe163Val) | gnomAD v4 |
17 | g.70175527T>A | CA400860706 | KCNJ2 | c.488T>A (p.Phe163Tyr) | |
17 | g.70175527T>C | CA400860708 | KCNJ2 | c.488T>C (p.Phe163Ser) | |
17 | g.70175527T>G | CA400860707 | KCNJ2 | c.488T>G (p.Phe163Cys) | |
17 | g.70175528C>A | CA400860709 | KCNJ2 | c.489C>A (p.Phe163Leu) | |
17 | g.70175528C>G | CA400860710 | KCNJ2 | c.489C>G (p.Phe163Leu) | |
17 | g.70175528C>T | CA501700741 | KCNJ2 | c.489C>T (p.Phe163=) | ClinVar |
17 | g.70175529C>A | CA400860711 | KCNJ2 | c.490C>A (p.Gln164Lys) | |
17 | g.70175529C>G | CA400860713 | KCNJ2 | c.490C>G (p.Gln164Glu) | |
17 | g.70175529C>T | CA400860712 | KCNJ2 | c.490C>T (p.Gln164Ter) | |
17 | g.70175530A>C | CA400860714 | KCNJ2 | c.491A>C (p.Gln164Pro) | |
17 | g.70175530A>G | CA400860716 | KCNJ2 | c.491A>G (p.Gln164Arg) | |
17 | g.70175530A>T | CA400860715 | KCNJ2 | c.491A>T (p.Gln164Leu) | |
17 | g.70175531G>A | CA501700744 | KCNJ2 | c.492G>A (p.Gln164=) | |
17 | g.70175531G>C | CA400860717 | KCNJ2 | c.492G>C (p.Gln164His) | |
17 | g.70175531G>T | CA400860718 | KCNJ2 | c.492G>T (p.Gln164His) | |
17 | g.70175532T>A | CA400860719 | KCNJ2 | c.493T>A (p.Ser165Thr) | |
17 | g.70175532T>C | CA400860720 | KCNJ2 | c.493T>C (p.Ser165Pro) | |
17 | g.70175532T>G | CA400860721 | KCNJ2 | c.493T>G (p.Ser165Ala) | |
17 | g.70175533C>A | CA400860722 | KCNJ2 | c.494C>A (p.Ser165Ter) | |
17 | g.70175533C>G | CA400860723 | KCNJ2 | c.494C>G (p.Ser165Ter) | |
17 | g.70175533C>T | CA400860724 | KCNJ2 | c.494C>T (p.Ser165Leu) | ClinVar |
17 | g.70175534A>C | CA501700750 | KCNJ2 | c.495A>C (p.Ser165=) | |
17 | g.70175534A>G | CA501700751 | KCNJ2 | c.495A>G (p.Ser165=) | |
17 | g.70175534A>T | CA501700752 | KCNJ2 | c.495A>T (p.Ser165=) | |
17 | g.70175535A= | CA2272996597 | KCNJ2 | c.496A= (p.Ile166=) | |
17 | g.70175535A>C | CA400860727 | KCNJ2 | c.496A>C (p.Ile166Leu) | |
17 | g.70175535A>G | CA400860725 | KCNJ2 | c.496A>G (p.Ile166Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175535A>T | CA400860726 | KCNJ2 | c.496A>T (p.Ile166Phe) | |
17 | g.70175539_70175553dup | CA2573154860 | KCNJ2 | c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle) | ClinVar dbSNP |
17 | g.70175536T>A | CA400860728 | KCNJ2 | c.497T>A (p.Ile166Asn) | |
17 | g.70175536T>C | CA400860729 | KCNJ2 | c.497T>C (p.Ile166Thr) | |
17 | g.70175536T>G | CA400860730 | KCNJ2 | c.497T>G (p.Ile166Ser) | |
17 | g.70175537C>A | CA501700753 | KCNJ2 | c.498C>A (p.Ile166=) | gnomAD v3 gnomAD v4 |
17 | g.70175537C= | CA2272996598 | KCNJ2 | c.498C= (p.Ile166=) | |
17 | g.70175537C>G | CA400860731 | KCNJ2 | c.498C>G (p.Ile166Met) | dbSNP |
17 | g.70175537C>T | CA8738735 | KCNJ2 | c.498C>T (p.Ile166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175538G>A | CA8738736 | KCNJ2 | c.499G>A (p.Val167Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175538G>C | CA400860733 | KCNJ2 | c.499G>C (p.Val167Leu) | gnomAD v4 |
17 | g.70175538G= | CA2272996599 | KCNJ2 | c.499G= (p.Val167=) | |
17 | g.70175538G>T | CA400860735 | KCNJ2 | c.499G>T (p.Val167Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.70175539T>A | CA400860738 | KCNJ2 | c.500T>A (p.Val167Glu) | |
17 | g.70175539T>C | CA400860740 | KCNJ2 | c.500T>C (p.Val167Ala) | |
17 | g.70175539T>G | CA400860742 | KCNJ2 | c.500T>G (p.Val167Gly) | |
17 | g.70175540G>A | CA501700764 | KCNJ2 | c.501G>A (p.Val167=) | gnomAD v4 |
17 | g.70175540G>C | CA501700762 | KCNJ2 | c.501G>C (p.Val167=) | |
17 | g.70175540G>T | CA501700761 | KCNJ2 | c.501G>T (p.Val167=) | |
17 | g.70175542del | CA2639593900 | KCNJ2 | c.503del (p.Gly168AlafsTer?) | gnomAD v4 |
17 | g.70175541G>A | CA400860743 | KCNJ2 | c.502G>A (p.Gly168Ser) | |
17 | g.70175541G>C | CA400860744 | KCNJ2 | c.502G>C (p.Gly168Arg) | |
17 | g.70175541G>T | CA400860747 | KCNJ2 | c.502G>T (p.Gly168Cys) | |
17 | g.70175542G>A | CA400860749 | KCNJ2 | c.503G>A (p.Gly168Asp) | |
17 | g.70175542G>C | CA400860750 | KCNJ2 | c.503G>C (p.Gly168Ala) | |
17 | g.70175542G>T | CA400860752 | KCNJ2 | c.503G>T (p.Gly168Val) | |
17 | g.70175543C>A | CA501700771 | KCNJ2 | c.504C>A (p.Gly168=) | |
17 | g.70175543C= | CA2272996600 | KCNJ2 | c.504C= (p.Gly168=) | |
17 | g.70175543C>G | CA501700773 | KCNJ2 | c.504C>G (p.Gly168=) | |
17 | g.70175543C>T | CA501700775 | KCNJ2 | c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175544T>A | CA400860754 | KCNJ2 | c.505T>A (p.Cys169Ser) | |
17 | g.70175544T>C | CA400860756 | KCNJ2 | c.505T>C (p.Cys169Arg) | |
17 | g.70175544T>G | CA400860758 | KCNJ2 | c.505T>G (p.Cys169Gly) | |
17 | g.70175545G>A | CA400860760 | KCNJ2 | c.506G>A (p.Cys169Tyr) | |
17 | g.70175545G>C | CA400860764 | KCNJ2 | c.506G>C (p.Cys169Ser) | |
17 | g.70175545G>T | CA400860762 | KCNJ2 | c.506G>T (p.Cys169Phe) | |
17 | g.70175546C>A | CA400860766 | KCNJ2 | c.507C>A (p.Cys169Ter) | |
17 | g.70175546C>G | CA400860768 | KCNJ2 | c.507C>G (p.Cys169Trp) | |
17 | g.70175546C>T | CA501700780 | KCNJ2 | c.507C>T (p.Cys169=) | |
17 | g.70175547A>C | CA400860770 | KCNJ2 | c.508A>C (p.Ile170Leu) | |
17 | g.70175547A>G | CA400860772 | KCNJ2 | c.508A>G (p.Ile170Val) | |
17 | g.70175547A>T | CA400860774 | KCNJ2 | c.508A>T (p.Ile170Phe) | |
17 | g.70175548T>A | CA400860776 | KCNJ2 | c.509T>A (p.Ile170Asn) | |
17 | g.70175548T>C | CA400860778 | KCNJ2 | c.509T>C (p.Ile170Thr) | |
17 | g.70175548T>G | CA400860780 | KCNJ2 | c.509T>G (p.Ile170Ser) | gnomAD v4 |
17 | g.70175549C>A | CA501700782 | KCNJ2 | c.510C>A (p.Ile170=) | |
17 | g.70175549C= | CA2272996601 | KCNJ2 | c.510C= (p.Ile170=) | |
17 | g.70175549C>G | CA400860782 | KCNJ2 | c.510C>G (p.Ile170Met) | ClinVar dbSNP |
17 | g.70175549C>T | CA501700783 | KCNJ2 | c.510C>T (p.Ile170=) | ClinVar |
17 | g.70175550A= | CA2272996602 | KCNJ2 | c.511A= (p.Ile171=) | |
17 | g.70175550A>C | CA400860785 | KCNJ2 | c.511A>C (p.Ile171Leu) | |
17 | g.70175550A>G | CA8738737 | KCNJ2 | c.511A>G (p.Ile171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175550A>T | CA400860788 | KCNJ2 | c.511A>T (p.Ile171Phe) | |
17 | g.70175551T>A | CA400860794 | KCNJ2 | c.512T>A (p.Ile171Asn) | |
17 | g.70175551T>C | CA400860790 | KCNJ2 | c.512T>C (p.Ile171Thr) | |
17 | g.70175551T>G | CA400860792 | KCNJ2 | c.512T>G (p.Ile171Ser) | |
17 | g.70175552C>A | CA501700790 | KCNJ2 | c.513C>A (p.Ile171=) | |
17 | g.70175552C= | CA2272996603 | KCNJ2 | c.513C= (p.Ile171=) | |
17 | g.70175552C>G | CA400860796 | KCNJ2 | c.513C>G (p.Ile171Met) | COSMIC |
17 | g.70175552C>T | CA8738738 | KCNJ2 | c.513C>T (p.Ile171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175553G>A | CA120002 | KCNJ2 | c.514G>A (p.Asp172Asn) | ClinVar dbSNP COSMIC |
17 | g.70175553G>C | CA400860801 | KCNJ2 | c.514G>C (p.Asp172His) | |
17 | g.70175553G= | CA2272996604 | KCNJ2 | c.514G= (p.Asp172=) | |
17 | g.70175553G>T | CA400860803 | KCNJ2 | c.514G>T (p.Asp172Tyr) | |
17 | g.70175554A>C | CA400860805 | KCNJ2 | c.515A>C (p.Asp172Ala) | |
17 | g.70175554A>G | CA400860806 | KCNJ2 | c.515A>G (p.Asp172Gly) | gnomAD v4 |
17 | g.70175554A>T | CA400860808 | KCNJ2 | c.515A>T (p.Asp172Val) | |
17 | g.70175555T>A | CA400860810 | KCNJ2 | c.516T>A (p.Asp172Glu) | |
17 | g.70175555T>C | CA501700795 | KCNJ2 | c.516T>C (p.Asp172=) | |
17 | g.70175555T>G | CA400860812 | KCNJ2 | c.516T>G (p.Asp172Glu) | |
17 | g.70175556G>A | CA8738739 | KCNJ2 | c.517G>A (p.Ala173Thr) | dbSNP ExAC |
17 | g.70175556G>C | CA400860816 | KCNJ2 | c.517G>C (p.Ala173Pro) | |
17 | g.70175556G= | CA2272996605 | KCNJ2 | c.517G= (p.Ala173=) | |
17 | g.70175556G>T | CA400860814 | KCNJ2 | c.517G>T (p.Ala173Ser) | ClinVar dbSNP |
17 | g.70175557C>A | CA400860819 | KCNJ2 | c.518C>A (p.Ala173Asp) | |
17 | g.70175557C>G | CA400860823 | KCNJ2 | c.518C>G (p.Ala173Gly) | |
17 | g.70175557C>T | CA400860821 | KCNJ2 | c.518C>T (p.Ala173Val) | |
17 | g.70175558T>A | CA501700798 | KCNJ2 | c.519T>A (p.Ala173=) | |
17 | g.70175558T>C | CA501700799 | KCNJ2 | c.519T>C (p.Ala173=) | |
17 | g.70175558T>G | CA501700801 | KCNJ2 | c.519T>G (p.Ala173=) | |
17 | g.70175559T>A | CA400860825 | KCNJ2 | c.520T>A (p.Phe174Ile) | |
17 | g.70175559T>C | CA400860827 | KCNJ2 | c.520T>C (p.Phe174Leu) | |
17 | g.70175559T>G | CA400860829 | KCNJ2 | c.520T>G (p.Phe174Val) | |
17 | g.70175560T>A | CA400860831 | KCNJ2 | c.521T>A (p.Phe174Tyr) | |
17 | g.70175560T>C | CA400860833 | KCNJ2 | c.521T>C (p.Phe174Ser) | |
17 | g.70175560T>G | CA400860835 | KCNJ2 | c.521T>G (p.Phe174Cys) | gnomAD v4 |
17 | g.70175561C>A | CA400860837 | KCNJ2 | c.522C>A (p.Phe174Leu) | |
17 | g.70175561C>G | CA400860839 | KCNJ2 | c.522C>G (p.Phe174Leu) | |
17 | g.70175561C>T | CA501700803 | KCNJ2 | c.522C>T (p.Phe174=) | |
17 | g.70175562A= | CA2272996606 | KCNJ2 | c.523A= (p.Ile175=) | |
17 | g.70175562A>C | CA293702916 | KCNJ2 | c.523A>C (p.Ile175Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175562A>G | CA400860843 | KCNJ2 | c.523A>G (p.Ile175Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175562A>T | CA400860844 | KCNJ2 | c.523A>T (p.Ile175Phe) | |
17 | g.70175563T>A | CA400860851 | KCNJ2 | c.524T>A (p.Ile175Asn) | |
17 | g.70175563T>C | CA400860849 | KCNJ2 | c.524T>C (p.Ile175Thr) | COSMIC |
17 | g.70175563T>G | CA400860847 | KCNJ2 | c.524T>G (p.Ile175Ser) | |
17 | g.70175563T= | CA2272996607 | KCNJ2 | c.524T= (p.Ile175=) | |
17 | g.70175564C>A | CA501700805 | KCNJ2 | c.525C>A (p.Ile175=) | gnomAD v4 |
17 | g.70175564C>G | CA400860853 | KCNJ2 | c.525C>G (p.Ile175Met) | |
17 | g.70175564C>T | CA501700806 | KCNJ2 | c.525C>T (p.Ile175=) | |
17 | g.70175565_70175570dup | CA915952198 | KCNJ2 | c.526_531dup (p.Gly177_Ala178insIleGly) | ClinVar dbSNP |
17 | g.70175565A>C | CA400860855 | KCNJ2 | c.526A>C (p.Ile176Leu) | |
17 | g.70175565A>G | CA400860858 | KCNJ2 | c.526A>G (p.Ile176Val) | |
17 | g.70175565A>T | CA400860860 | KCNJ2 | c.526A>T (p.Ile176Phe) |