Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237377381A>C | CA345375604 | RYR2 | c.522A>C (p.Lys174Asn) c.474A>C (p.Lys158Asn) n.803A>C c.501A>C (p.Lys167Asn) n.836A>C | |
1 | g.237377381A>G | CA423808723 | RYR2 | c.522A>G (p.Lys174=) c.474A>G (p.Lys158=) n.803A>G c.501A>G (p.Lys167=) n.836A>G | dbSNP COSMIC COSMIC |
1 | g.237377381A>T | CA345375606 | RYR2 | c.522A>T (p.Lys174Asn) c.474A>T (p.Lys158Asn) n.803A>T c.501A>T (p.Lys167Asn) n.836A>T | |
1 | g.237377382G>A | CA345375609 | RYR2 | c.523G>A (p.Val175Ile) c.475G>A (p.Val159Ile) n.804G>A c.502G>A (p.Val168Ile) n.837G>A | |
1 | g.237377382G>C | CA345375610 | RYR2 | c.523G>C (p.Val175Leu) c.475G>C (p.Val159Leu) n.804G>C c.502G>C (p.Val168Leu) n.837G>C | |
1 | g.237377382G>T | CA345375612 | RYR2 | c.523G>T (p.Val175Leu) c.475G>T (p.Val159Leu) n.804G>T c.502G>T (p.Val168Leu) n.837G>T | |
1 | g.237377383T>A | CA345375616 | RYR2 | c.524T>A (p.Val175Glu) c.476T>A (p.Val159Glu) n.805T>A c.503T>A (p.Val168Glu) n.838T>A | |
1 | g.237377383T>C | CA345375618 | RYR2 | c.524T>C (p.Val175Ala) c.476T>C (p.Val159Ala) n.805T>C c.503T>C (p.Val168Ala) n.838T>C | |
1 | g.237377383T>G | CA345375615 | RYR2 | c.524T>G (p.Val175Gly) c.476T>G (p.Val159Gly) n.805T>G c.503T>G (p.Val168Gly) n.838T>G | |
1 | g.237377384A= | CA2487310781 | RYR2 | c.525A= (p.Val175=) c.477A= (p.Val159=) n.806A= c.504A= (p.Val168=) n.839A= | |
1 | g.237377384A>C | CA423808724 | RYR2 | c.525A>C (p.Val175=) c.477A>C (p.Val159=) n.806A>C c.504A>C (p.Val168=) n.839A>C | |
1 | g.237377384A>G | CA39774123 | RYR2 | c.525A>G (p.Val175=) c.477A>G (p.Val159=) n.806A>G c.504A>G (p.Val168=) n.839A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237377384A>T | CA423808725 | RYR2 | c.525A>T (p.Val175=) c.477A>T (p.Val159=) n.806A>T c.504A>T (p.Val168=) n.839A>T | |
1 | g.237377385C>A | CA423808726 | RYR2 | c.526C>A (p.Arg176=) c.478C>A (p.Arg160=) n.807C>A c.505C>A (p.Arg169=) n.840C>A | |
1 | g.237377385C>G | CA345375622 | RYR2 | c.526C>G (p.Arg176Gly) c.478C>G (p.Arg160Gly) n.807C>G c.505C>G (p.Arg169Gly) n.840C>G | |
1 | g.237377385C>T | CA345375624 | RYR2 | c.526C>T (p.Arg176Ter) c.478C>T (p.Arg160Ter) n.807C>T c.505C>T (p.Arg169Ter) n.840C>T | gnomAD v4 COSMIC COSMIC |
1 | g.237377386G>A | CA009819 | RYR2 | c.527G>A (p.Arg176Gln) c.479G>A (p.Arg160Gln) n.808G>A c.506G>A (p.Arg169Gln) n.841G>A | ClinVar dbSNP COSMIC COSMIC |
1 | g.237377386G>C | CA345375627 | RYR2 | c.527G>C (p.Arg176Pro) c.479G>C (p.Arg160Pro) n.808G>C c.506G>C (p.Arg169Pro) n.841G>C | |
1 | g.237377386G= | CA2487310782 | RYR2 | c.527G= (p.Arg176=) c.479G= (p.Arg160=) n.808G= c.506G= (p.Arg169=) n.841G= | |
1 | g.237377386G>T | CA009824 | RYR2 | c.527G>T (p.Arg176Leu) c.479G>T (p.Arg160Leu) n.808G>T c.506G>T (p.Arg169Leu) n.841G>T | ClinVar dbSNP |
1 | g.237377387A>C | CA423808727 | RYR2 | c.528A>C (p.Arg176=) c.480A>C (p.Arg160=) n.809A>C c.507A>C (p.Arg169=) n.842A>C | |
1 | g.237377387A>G | CA423808728 | RYR2 | c.528A>G (p.Arg176=) c.480A>G (p.Arg160=) n.809A>G c.507A>G (p.Arg169=) n.842A>G | |
1 | g.237377387A>T | CA423808729 | RYR2 | c.528A>T (p.Arg176=) c.480A>T (p.Arg160=) n.809A>T c.507A>T (p.Arg169=) n.842A>T | |
1 | g.237377388G>A | CA345375631 | RYR2 | c.529G>A (p.Val177Ile) c.481G>A (p.Val161Ile) n.810G>A c.508G>A (p.Val170Ile) n.843G>A | |
1 | g.237377388G>C | CA345375629 | RYR2 | c.529G>C (p.Val177Leu) c.481G>C (p.Val161Leu) n.810G>C c.508G>C (p.Val170Leu) n.843G>C | |
1 | g.237377388G>T | CA073145 | RYR2 | c.529G>T (p.Val177Phe) c.481G>T (p.Val161Phe) n.810G>T c.508G>T (p.Val170Phe) n.843G>T | |
1 | g.237377389T>A | CA345375634 | RYR2 | c.530T>A (p.Val177Asp) c.482T>A (p.Val161Asp) n.811T>A c.509T>A (p.Val170Asp) n.844T>A | |
1 | g.237377389T>C | CA345375635 | RYR2 | c.530T>C (p.Val177Ala) c.482T>C (p.Val161Ala) n.811T>C c.509T>C (p.Val170Ala) n.844T>C | gnomAD v4 COSMIC COSMIC |
1 | g.237377389T>G | CA345375638 | RYR2 | c.530T>G (p.Val177Gly) c.482T>G (p.Val161Gly) n.811T>G c.509T>G (p.Val170Gly) n.844T>G | ClinVar dbSNP gnomAD v2 |
1 | g.237377389T= | CA2487310783 | RYR2 | c.530T= (p.Val177=) c.482T= (p.Val161=) n.811T= c.509T= (p.Val170=) n.844T= | |
1 | g.237377390T>A | CA423808730 | RYR2 | c.531T>A (p.Val177=) c.483T>A (p.Val161=) n.812T>A c.510T>A (p.Val170=) n.845T>A | |
1 | g.237377390T>C | CA423808731 | RYR2 | c.531T>C (p.Val177=) c.483T>C (p.Val161=) n.812T>C c.510T>C (p.Val170=) n.845T>C | |
1 | g.237377390T>G | CA423808732 | RYR2 | c.531T>G (p.Val177=) c.483T>G (p.Val161=) n.812T>G c.510T>G (p.Val170=) n.845T>G | |
1 | g.237377391G>A | CA345375643 | RYR2 | c.532G>A (p.Gly178Arg) c.484G>A (p.Gly162Arg) n.813G>A c.511G>A (p.Gly171Arg) n.846G>A | |
1 | g.237377391G>C | CA345375647 | RYR2 | c.532G>C (p.Gly178Arg) c.484G>C (p.Gly162Arg) n.813G>C c.511G>C (p.Gly171Arg) n.846G>C | |
1 | g.237377391G>T | CA345375649 | RYR2 | c.532G>T (p.Gly178Ter) c.484G>T (p.Gly162Ter) n.813G>T c.511G>T (p.Gly171Ter) n.846G>T | |
1 | g.237377392G>A | CA345375650 | RYR2 | c.533G>A (p.Gly178Glu) c.485G>A (p.Gly162Glu) n.814G>A c.512G>A (p.Gly171Glu) n.847G>A | |
1 | g.237377392G>C | CA345375652 | RYR2 | c.533G>C (p.Gly178Ala) c.485G>C (p.Gly162Ala) n.814G>C c.512G>C (p.Gly171Ala) n.847G>C | |
1 | g.237377392G>T | CA345375651 | RYR2 | c.533G>T (p.Gly178Val) c.485G>T (p.Gly162Val) n.814G>T c.512G>T (p.Gly171Val) n.847G>T | |
1 | g.237377393A>C | CA423808735 | RYR2 | c.534A>C (p.Gly178=) c.486A>C (p.Gly162=) n.815A>C c.513A>C (p.Gly171=) n.848A>C | |
1 | g.237377393A>G | CA423808733 | RYR2 | c.534A>G (p.Gly178=) c.486A>G (p.Gly162=) n.815A>G c.513A>G (p.Gly171=) n.848A>G | |
1 | g.237377393A>T | CA423808734 | RYR2 | c.534A>T (p.Gly178=) c.486A>T (p.Gly162=) n.815A>T c.513A>T (p.Gly171=) n.848A>T | |
1 | g.237377394G>A | CA009830 | RYR2 | c.535G>A (p.Asp179Asn) c.487G>A (p.Asp163Asn) n.816G>A c.514G>A (p.Asp172Asn) n.849G>A | ClinVar dbSNP |
1 | g.237377394G>C | CA345375653 | RYR2 | c.535G>C (p.Asp179His) c.487G>C (p.Asp163His) n.816G>C c.514G>C (p.Asp172His) n.849G>C | |
1 | g.237377394G= | CA2487310784 | RYR2 | c.535G= (p.Asp179=) c.487G= (p.Asp163=) n.816G= c.514G= (p.Asp172=) n.849G= | |
1 | g.237377394G>T | CA345375654 | RYR2 | c.535G>T (p.Asp179Tyr) c.487G>T (p.Asp163Tyr) n.816G>T c.514G>T (p.Asp172Tyr) n.849G>T | |
1 | g.237377395A>C | CA345375655 | RYR2 | c.536A>C (p.Asp179Ala) c.488A>C (p.Asp163Ala) n.817A>C c.515A>C (p.Asp172Ala) n.850A>C | |
1 | g.237377395A>G | CA345375656 | RYR2 | c.536A>G (p.Asp179Gly) c.488A>G (p.Asp163Gly) n.817A>G c.515A>G (p.Asp172Gly) n.850A>G | |
1 | g.237377395A>T | CA345375657 | RYR2 | c.536A>T (p.Asp179Val) c.488A>T (p.Asp163Val) n.817A>T c.515A>T (p.Asp172Val) n.850A>T | |
1 | g.237377396T>A | CA345375658 | RYR2 | c.537T>A (p.Asp179Glu) c.489T>A (p.Asp163Glu) n.818T>A c.516T>A (p.Asp172Glu) n.851T>A | ClinVar dbSNP |
1 | g.237377396T>C | CA423808736 | RYR2 | c.537T>C (p.Asp179=) c.489T>C (p.Asp163=) n.818T>C c.516T>C (p.Asp172=) n.851T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237377396T>G | CA345375659 | RYR2 | c.537T>G (p.Asp179Glu) c.489T>G (p.Asp163Glu) n.818T>G c.516T>G (p.Asp172Glu) n.851T>G | |
1 | g.237377396T= | CA2487310785 | RYR2 | c.537T= (p.Asp179=) c.489T= (p.Asp163=) n.818T= c.516T= (p.Asp172=) n.851T= | |
1 | g.237377397G>A | CA345375660 | RYR2 | c.538G>A (p.Asp180Asn) c.490G>A (p.Asp164Asn) n.819G>A c.517G>A (p.Asp173Asn) n.852G>A | |
1 | g.237377397G>C | CA345375661 | RYR2 | c.538G>C (p.Asp180His) c.490G>C (p.Asp164His) n.819G>C c.517G>C (p.Asp173His) n.852G>C | |
1 | g.237377397G>T | CA345375662 | RYR2 | c.538G>T (p.Asp180Tyr) c.490G>T (p.Asp164Tyr) n.819G>T c.517G>T (p.Asp173Tyr) n.852G>T | |
1 | g.237377398A>C | CA345375665 | RYR2 | c.539A>C (p.Asp180Ala) c.491A>C (p.Asp164Ala) n.820A>C c.518A>C (p.Asp173Ala) n.853A>C | |
1 | g.237377398A>G | CA345375664 | RYR2 | c.539A>G (p.Asp180Gly) c.491A>G (p.Asp164Gly) n.820A>G c.518A>G (p.Asp173Gly) n.853A>G | |
1 | g.237377398A>T | CA345375663 | RYR2 | c.539A>T (p.Asp180Val) c.491A>T (p.Asp164Val) n.820A>T c.518A>T (p.Asp173Val) n.853A>T | |
1 | g.237377399C>A | CA345375666 | RYR2 | c.540C>A (p.Asp180Glu) c.492C>A (p.Asp164Glu) n.821C>A c.519C>A (p.Asp173Glu) n.854C>A | |
1 | g.237377399C>G | CA345375667 | RYR2 | c.540C>G (p.Asp180Glu) c.492C>G (p.Asp164Glu) n.821C>G c.519C>G (p.Asp173Glu) n.854C>G | COSMIC COSMIC |
1 | g.237377399C>T | CA423808737 | RYR2 | c.540C>T (p.Asp180=) c.492C>T (p.Asp164=) n.821C>T c.519C>T (p.Asp173=) n.854C>T | ClinVar gnomAD v4 |
1 | g.237377400C>A | CA345375668 | RYR2 | c.541C>A (p.Leu181Ile) c.493C>A (p.Leu165Ile) n.822C>A c.520C>A (p.Leu174Ile) n.855C>A | |
1 | g.237377400C= | CA2487310786 | RYR2 | c.541C= (p.Leu181=) c.493C= (p.Leu165=) n.822C= c.520C= (p.Leu174=) n.855C= | |
1 | g.237377400C>G | CA345375670 | RYR2 | c.541C>G (p.Leu181Val) c.493C>G (p.Leu165Val) n.822C>G c.520C>G (p.Leu174Val) n.855C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237377400C>T | CA345375669 | RYR2 | c.541C>T (p.Leu181Phe) c.493C>T (p.Leu165Phe) n.822C>T c.520C>T (p.Leu174Phe) n.855C>T | dbSNP gnomAD v4 |
1 | g.237377401T>A | CA345375671 | RYR2 | c.542T>A (p.Leu181His) c.494T>A (p.Leu165His) n.823T>A c.521T>A (p.Leu174His) n.856T>A | |
1 | g.237377401T>C | CA345375673 | RYR2 | c.542T>C (p.Leu181Pro) c.494T>C (p.Leu165Pro) n.823T>C c.521T>C (p.Leu174Pro) n.856T>C | |
1 | g.237377401T>G | CA345375672 | RYR2 | c.542T>G (p.Leu181Arg) c.494T>G (p.Leu165Arg) n.823T>G c.521T>G (p.Leu174Arg) n.856T>G | |
1 | g.237377402C>A | CA423808738 | RYR2 | c.543C>A (p.Leu181=) c.495C>A (p.Leu165=) n.824C>A c.522C>A (p.Leu174=) n.857C>A | |
1 | g.237377402C>G | CA423808740 | RYR2 | c.543C>G (p.Leu181=) c.495C>G (p.Leu165=) n.824C>G c.522C>G (p.Leu174=) n.857C>G | |
1 | g.237377402C>T | CA423808739 | RYR2 | c.543C>T (p.Leu181=) c.495C>T (p.Leu165=) n.824C>T c.522C>T (p.Leu174=) n.857C>T | ClinVar dbSNP |
1 | g.237377403A>C | CA345375674 | RYR2 | c.544A>C (p.Ile182Leu) c.496A>C (p.Ile166Leu) n.825A>C c.523A>C (p.Ile175Leu) n.858A>C | gnomAD v4 |
1 | g.237377403A>G | CA345375675 | RYR2 | c.544A>G (p.Ile182Val) c.496A>G (p.Ile166Val) n.825A>G c.523A>G (p.Ile175Val) n.858A>G | ClinVar dbSNP gnomAD v4 |
1 | g.237377403A>T | CA345375676 | RYR2 | c.544A>T (p.Ile182Phe) c.496A>T (p.Ile166Phe) n.825A>T c.523A>T (p.Ile175Phe) n.858A>T | |
1 | g.237377404T>A | CA345375677 | RYR2 | c.545T>A (p.Ile182Asn) c.497T>A (p.Ile166Asn) n.826T>A c.524T>A (p.Ile175Asn) n.859T>A | |
1 | g.237377404T>C | CA345375678 | RYR2 | c.545T>C (p.Ile182Thr) c.497T>C (p.Ile166Thr) n.826T>C c.524T>C (p.Ile175Thr) n.859T>C | |
1 | g.237377404T>G | CA345375679 | RYR2 | c.545T>G (p.Ile182Ser) c.497T>G (p.Ile166Ser) n.826T>G c.524T>G (p.Ile175Ser) n.859T>G | |
1 | g.237377405C>A | CA423808741 | RYR2 | c.546C>A (p.Ile182=) c.498C>A (p.Ile166=) n.827C>A c.525C>A (p.Ile175=) n.860C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377405C= | CA2487310787 | RYR2 | c.546C= (p.Ile182=) c.498C= (p.Ile166=) n.827C= c.525C= (p.Ile175=) n.860C= | |
1 | g.237377405C>G | CA345375680 | RYR2 | c.546C>G (p.Ile182Met) c.498C>G (p.Ile166Met) n.827C>G c.525C>G (p.Ile175Met) n.860C>G | |
1 | g.237377405C>T | CA423808742 | RYR2 | c.546C>T (p.Ile182=) c.498C>T (p.Ile166=) n.827C>T c.525C>T (p.Ile175=) n.860C>T | gnomAD v4 |
1 | g.237377406T>A | CA345375681 | RYR2 | c.547T>A (p.Leu183Ile) c.499T>A (p.Leu167Ile) n.828T>A c.526T>A (p.Leu176Ile) n.861T>A | |
1 | g.237377406T>C | CA423808743 | RYR2 | c.547T>C (p.Leu183=) c.499T>C (p.Leu167=) n.828T>C c.526T>C (p.Leu176=) n.861T>C | |
1 | g.237377406T>G | CA345375682 | RYR2 | c.547T>G (p.Leu183Val) c.499T>G (p.Leu167Val) n.828T>G c.526T>G (p.Leu176Val) n.861T>G | |
1 | g.237377410_237377413del | CA529529445 | RYR2 | c.551_554del (p.Val184AlafsTer?) c.503_506del (p.Val168AlafsTer?) n.832_835del c.530_533del (p.Val177AlafsTer?) n.865_868del | ClinVar gnomAD v2 gnomAD v4 |
1 | g.237377407T>A | CA345375683 | RYR2 | c.548T>A (p.Leu183Ter) c.500T>A (p.Leu167Ter) n.829T>A c.527T>A (p.Leu176Ter) n.862T>A | |
1 | g.237377407T>C | CA345375684 | RYR2 | c.548T>C (p.Leu183Ser) c.500T>C (p.Leu167Ser) n.829T>C c.527T>C (p.Leu176Ser) n.862T>C | |
1 | g.237377407T>G | CA345375685 | RYR2 | c.548T>G (p.Leu183Ter) c.500T>G (p.Leu167Ter) n.829T>G c.527T>G (p.Leu176Ter) n.862T>G | |
1 | g.237377408A>C | CA345375686 | RYR2 | c.549A>C (p.Leu183Phe) c.501A>C (p.Leu167Phe) n.830A>C c.528A>C (p.Leu176Phe) n.863A>C | |
1 | g.237377408A>G | CA423808744 | RYR2 | c.549A>G (p.Leu183=) c.501A>G (p.Leu167=) n.830A>G c.528A>G (p.Leu176=) n.863A>G | |
1 | g.237377408A>T | CA345375687 | RYR2 | c.549A>T (p.Leu183Phe) c.501A>T (p.Leu167Phe) n.830A>T c.528A>T (p.Leu176Phe) n.863A>T | |
1 | g.237377409G>A | CA345375688 | RYR2 | c.550G>A (p.Val184Ile) c.502G>A (p.Val168Ile) n.831G>A c.529G>A (p.Val177Ile) n.864G>A | gnomAD v4 |
1 | g.237377409G>C | CA345375689 | RYR2 | c.550G>C (p.Val184Leu) c.502G>C (p.Val168Leu) n.831G>C c.529G>C (p.Val177Leu) n.864G>C | |
1 | g.237377409G>T | CA345375690 | RYR2 | c.550G>T (p.Val184Phe) c.502G>T (p.Val168Phe) n.831G>T c.529G>T (p.Val177Phe) n.864G>T | |
1 | g.237377410T>A | CA345375691 | RYR2 | c.551T>A (p.Val184Asp) c.503T>A (p.Val168Asp) n.832T>A c.530T>A (p.Val177Asp) n.865T>A | |
1 | g.237377410T>C | CA345375692 | RYR2 | c.551T>C (p.Val184Ala) c.503T>C (p.Val168Ala) n.832T>C c.530T>C (p.Val177Ala) n.865T>C | |
1 | g.237377410T>G | CA345375693 | RYR2 | c.551T>G (p.Val184Gly) c.503T>G (p.Val168Gly) n.832T>G c.530T>G (p.Val177Gly) n.865T>G | |
1 | g.237377411T>A | CA423808745 | RYR2 | c.552T>A (p.Val184=) c.504T>A (p.Val168=) n.833T>A c.531T>A (p.Val177=) n.866T>A | |
1 | g.237377411T>C | CA423808746 | RYR2 | c.552T>C (p.Val184=) c.504T>C (p.Val168=) n.833T>C c.531T>C (p.Val177=) n.866T>C | |
1 | g.237377411T>G | CA423808747 | RYR2 | c.552T>G (p.Val184=) c.504T>G (p.Val168=) n.833T>G c.531T>G (p.Val177=) n.866T>G | |
1 | g.237377412A>C | CA345375694 | RYR2 | c.553A>C (p.Ser185Arg) c.505A>C (p.Ser169Arg) n.834A>C c.532A>C (p.Ser178Arg) n.867A>C | |
1 | g.237377412A>G | CA345375695 | RYR2 | c.553A>G (p.Ser185Gly) c.505A>G (p.Ser169Gly) n.834A>G c.532A>G (p.Ser178Gly) n.867A>G | |
1 | g.237377412A>T | CA345375696 | RYR2 | c.553A>T (p.Ser185Cys) c.505A>T (p.Ser169Cys) n.834A>T c.532A>T (p.Ser178Cys) n.867A>T | |
1 | g.237377413G>A | CA345375697 | RYR2 | c.554G>A (p.Ser185Asn) c.506G>A (p.Ser169Asn) n.835G>A c.533G>A (p.Ser178Asn) n.868G>A | dbSNP |
1 | g.237377413G>C | CA086903 | RYR2 | c.554G>C (p.Ser185Thr) c.506G>C (p.Ser169Thr) n.835G>C c.533G>C (p.Ser178Thr) n.868G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237377413G= | CA2487310788 | RYR2 | c.554G= (p.Ser185=) c.506G= (p.Ser169=) n.835G= c.533G= (p.Ser178=) n.868G= | |
1 | g.237377413G>T | CA345375698 | RYR2 | c.554G>T (p.Ser185Ile) c.506G>T (p.Ser169Ile) n.835G>T c.533G>T (p.Ser178Ile) n.868G>T | |
1 | g.237377414C>A | CA345375699 | RYR2 | c.555C>A (p.Ser185Arg) c.507C>A (p.Ser169Arg) n.836C>A c.534C>A (p.Ser178Arg) n.869C>A | |
1 | g.237377414C= | CA1143666877 | RYR2 | c.555C= (p.Ser185=) c.507C= (p.Ser169=) n.836C= c.534C= (p.Ser178=) n.869C= | |
1 | g.237377414C>G | CA345375700 | RYR2 | c.555C>G (p.Ser185Arg) c.507C>G (p.Ser169Arg) n.836C>G c.534C>G (p.Ser178Arg) n.869C>G | COSMIC COSMIC |
1 | g.237377414C>T | CA086906 | RYR2 | c.555C>T (p.Ser185=) c.507C>T (p.Ser169=) n.836C>T c.534C>T (p.Ser178=) n.869C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377415G>A | CA009876 | RYR2 | c.556G>A (p.Val186Met) c.508G>A (p.Val170Met) n.837G>A c.535G>A (p.Val179Met) n.870G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377415G>C | CA345375701 | RYR2 | c.556G>C (p.Val186Leu) c.508G>C (p.Val170Leu) n.837G>C c.535G>C (p.Val179Leu) n.870G>C | gnomAD v4 |
1 | g.237377415G= | CA1143468473 | RYR2 | c.556G= (p.Val186=) c.508G= (p.Val170=) n.837G= c.535G= (p.Val179=) n.870G= | |
1 | g.237377415G>T | CA345375702 | RYR2 | c.556G>T (p.Val186Leu) c.508G>T (p.Val170Leu) n.837G>T c.535G>T (p.Val179Leu) n.870G>T | |
1 | g.237377416T>A | CA345375703 | RYR2 | c.557T>A (p.Val186Glu) c.509T>A (p.Val170Glu) n.838T>A c.536T>A (p.Val179Glu) n.871T>A | |
1 | g.237377416T>C | CA345375704 | RYR2 | c.557T>C (p.Val186Ala) c.509T>C (p.Val170Ala) n.838T>C c.536T>C (p.Val179Ala) n.871T>C | |
1 | g.237377416T>G | CA345375705 | RYR2 | c.557T>G (p.Val186Gly) c.509T>G (p.Val170Gly) n.838T>G c.536T>G (p.Val179Gly) n.871T>G | |
1 | g.237377417G>A | CA423808748 | RYR2 | c.558G>A (p.Val186=) c.510G>A (p.Val170=) n.839G>A c.537G>A (p.Val179=) n.872G>A | ClinVar gnomAD v4 |
1 | g.237377417G>C | CA423808749 | RYR2 | c.558G>C (p.Val186=) c.510G>C (p.Val170=) n.839G>C c.537G>C (p.Val179=) n.872G>C | |
1 | g.237377417G>T | CA423808750 | RYR2 | c.558G>T (p.Val186=) c.510G>T (p.Val170=) n.839G>T c.537G>T (p.Val179=) n.872G>T | |
1 | g.237377418T>A | CA345375706 | RYR2 | c.559T>A (p.Ser187Thr) c.511T>A (p.Ser171Thr) n.840T>A c.538T>A (p.Ser180Thr) n.873T>A | |
1 | g.237377418T>C | CA345375707 | RYR2 | c.559T>C (p.Ser187Pro) c.511T>C (p.Ser171Pro) n.840T>C c.538T>C (p.Ser180Pro) n.873T>C | |
1 | g.237377418T>G | CA345375708 | RYR2 | c.559T>G (p.Ser187Ala) c.511T>G (p.Ser171Ala) n.840T>G c.538T>G (p.Ser180Ala) n.873T>G | |
1 | g.237377419C>A | CA345375709 | RYR2 | c.560C>A (p.Ser187Tyr) c.512C>A (p.Ser171Tyr) n.841C>A c.539C>A (p.Ser180Tyr) n.874C>A | |
1 | g.237377419C>G | CA345375710 | RYR2 | c.560C>G (p.Ser187Cys) c.512C>G (p.Ser171Cys) n.841C>G c.539C>G (p.Ser180Cys) n.874C>G | |
1 | g.237377419C>T | CA345375711 | RYR2 | c.560C>T (p.Ser187Phe) c.512C>T (p.Ser171Phe) n.841C>T c.539C>T (p.Ser180Phe) n.874C>T | |
1 | g.237377420C>A | CA423808751 | RYR2 | c.561C>A (p.Ser187=) c.513C>A (p.Ser171=) n.842C>A c.540C>A (p.Ser180=) n.875C>A | |
1 | g.237377420C= | CA2487310789 | RYR2 | c.561C= (p.Ser187=) c.513C= (p.Ser171=) n.842C= c.540C= (p.Ser180=) n.875C= | |
1 | g.237377420C>G | CA423808752 | RYR2 | c.561C>G (p.Ser187=) c.513C>G (p.Ser171=) n.842C>G c.540C>G (p.Ser180=) n.875C>G | COSMIC COSMIC |
1 | g.237377420C>T | CA423808753 | RYR2 | c.561C>T (p.Ser187=) c.513C>T (p.Ser171=) n.842C>T c.540C>T (p.Ser180=) n.875C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377421T>A | CA345375714 | RYR2 | c.562T>A (p.Ser188Thr) c.514T>A (p.Ser172Thr) n.843T>A c.541T>A (p.Ser181Thr) n.876T>A | |
1 | g.237377421T>C | CA345375712 | RYR2 | c.562T>C (p.Ser188Pro) c.514T>C (p.Ser172Pro) n.843T>C c.541T>C (p.Ser181Pro) n.876T>C | |
1 | g.237377421T>G | CA345375713 | RYR2 | c.562T>G (p.Ser188Ala) c.514T>G (p.Ser172Ala) n.843T>G c.541T>G (p.Ser181Ala) n.876T>G | |
1 | g.237377422C>A | CA345375715 | RYR2 | c.563C>A (p.Ser188Tyr) c.515C>A (p.Ser172Tyr) n.844C>A c.542C>A (p.Ser181Tyr) n.877C>A | |
1 | g.237377422C>G | CA345375716 | RYR2 | c.563C>G (p.Ser188Cys) c.515C>G (p.Ser172Cys) n.844C>G c.542C>G (p.Ser181Cys) n.877C>G | |
1 | g.237377422C>T | CA345375717 | RYR2 | c.563C>T (p.Ser188Phe) c.515C>T (p.Ser172Phe) n.844C>T c.542C>T (p.Ser181Phe) n.877C>T | |
1 | g.237377423T>A | CA423808754 | RYR2 | c.564T>A (p.Ser188=) c.516T>A (p.Ser172=) n.845T>A c.543T>A (p.Ser181=) n.878T>A | |
1 | g.237377423T>C | CA423808755 | RYR2 | c.564T>C (p.Ser188=) c.516T>C (p.Ser172=) n.845T>C c.543T>C (p.Ser181=) n.878T>C | |
1 | g.237377423T>G | CA423808756 | RYR2 | c.564T>G (p.Ser188=) c.516T>G (p.Ser172=) n.845T>G c.543T>G (p.Ser181=) n.878T>G | gnomAD v4 |
1 | g.237377424G>A | CA345375718 | RYR2 | c.565G>A (p.Glu189Lys) c.517G>A (p.Glu173Lys) n.846G>A c.544G>A (p.Glu182Lys) n.879G>A | |
1 | g.237377424G>C | CA345375719 | RYR2 | c.565G>C (p.Glu189Gln) c.517G>C (p.Glu173Gln) n.846G>C c.544G>C (p.Glu182Gln) n.879G>C | |
1 | g.237377424G>T | CA345375720 | RYR2 | c.565G>T (p.Glu189Ter) c.517G>T (p.Glu173Ter) n.846G>T c.544G>T (p.Glu182Ter) n.879G>T | |
1 | g.237377425A>C | CA345375721 | RYR2 | c.566A>C (p.Glu189Ala) c.518A>C (p.Glu173Ala) n.847A>C c.545A>C (p.Glu182Ala) n.880A>C | |
1 | g.237377425A>G | CA345375722 | RYR2 | c.566A>G (p.Glu189Gly) c.518A>G (p.Glu173Gly) n.847A>G c.545A>G (p.Glu182Gly) n.880A>G | |
1 | g.237377425A>T | CA345375723 | RYR2 | c.566A>T (p.Glu189Val) c.518A>T (p.Glu173Val) n.847A>T c.545A>T (p.Glu182Val) n.880A>T | |
1 | g.237377426A= | CA2487310790 | RYR2 | c.567A= (p.Glu189=) c.519A= (p.Glu173=) n.848A= c.546A= (p.Glu182=) n.881A= | |
1 | g.237377426A>C | CA345375724 | RYR2 | c.567A>C (p.Glu189Asp) c.519A>C (p.Glu173Asp) n.848A>C c.546A>C (p.Glu182Asp) n.881A>C | ClinVar |
1 | g.237377426A>G | CA423808757 | RYR2 | c.567A>G (p.Glu189=) c.519A>G (p.Glu173=) n.848A>G c.546A>G (p.Glu182=) n.881A>G | |
1 | g.237377426A>T | CA345375725 | RYR2 | c.567A>T (p.Glu189Asp) c.519A>T (p.Glu173Asp) n.848A>T c.546A>T (p.Glu182Asp) n.881A>T | ClinVar dbSNP |
1 | g.237377427A= | CA2487310791 | RYR2 | c.568A= (p.Arg190=) c.520A= (p.Arg174=) n.849A= c.547A= (p.Arg183=) n.882A= | |
1 | g.237377427A>C | CA423808758 | RYR2 | c.568A>C (p.Arg190=) c.520A>C (p.Arg174=) n.849A>C c.547A>C (p.Arg183=) n.882A>C | |
1 | g.237377427A>G | CA009967 | RYR2 | c.568A>G (p.Arg190Gly) c.520A>G (p.Arg174Gly) n.849A>G c.547A>G (p.Arg183Gly) n.882A>G | ClinVar dbSNP |
1 | g.237377427A>T | CA345375726 | RYR2 | c.568A>T (p.Arg190Trp) c.520A>T (p.Arg174Trp) n.849A>T c.547A>T (p.Arg183Trp) n.882A>T | |
1 | g.237377428G>A | CA345375727 | RYR2 | c.569G>A (p.Arg190Lys) c.521G>A (p.Arg174Lys) n.850G>A c.548G>A (p.Arg183Lys) n.883G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237377428G>C | CA345375729 | RYR2 | c.569G>C (p.Arg190Thr) c.521G>C (p.Arg174Thr) n.850G>C c.548G>C (p.Arg183Thr) n.883G>C | |
1 | g.237377428G= | CA2487310792 | RYR2 | c.569G= (p.Arg190=) c.521G= (p.Arg174=) n.850G= c.548G= (p.Arg183=) n.883G= | |
1 | g.237377428G>T | CA345375728 | RYR2 | c.569G>T (p.Arg190Met) c.521G>T (p.Arg174Met) n.850G>T c.548G>T (p.Arg183Met) n.883G>T | |
1 | g.237377429G>A | CA423808759 | RYR2 | c.570G>A (p.Arg190=) c.522G>A (p.Arg174=) n.851G>A c.549G>A (p.Arg183=) n.884G>A | ClinVar gnomAD v4 |
1 | g.237377429G>C | CA345375730 | RYR2 | c.570G>C (p.Arg190Ser) c.522G>C (p.Arg174Ser) n.851G>C c.549G>C (p.Arg183Ser) n.884G>C | |
1 | g.237377429G= | CA1144229247 | RYR2 | c.570G= (p.Arg190=) c.522G= (p.Arg174=) n.851G= c.549G= (p.Arg183=) n.884G= | |
1 | g.237377429G>T | CA009976 | RYR2 | c.570G>T (p.Arg190Ser) c.522G>T (p.Arg174Ser) n.851G>T c.549G>T (p.Arg183Ser) n.884G>T | ClinVar dbSNP |
1 | g.237377430T>A | CA345375731 | RYR2 | c.571T>A (p.Tyr191Asn) c.523T>A (p.Tyr175Asn) n.852T>A c.550T>A (p.Tyr184Asn) n.885T>A | |
1 | g.237377430T>C | CA345375732 | RYR2 | c.571T>C (p.Tyr191His) c.523T>C (p.Tyr175His) n.852T>C c.550T>C (p.Tyr184His) n.885T>C | |
1 | g.237377430T>G | CA345375733 | RYR2 | c.571T>G (p.Tyr191Asp) c.523T>G (p.Tyr175Asp) n.852T>G c.550T>G (p.Tyr184Asp) n.885T>G | |
1 | g.237377431A>C | CA345375734 | RYR2 | c.572A>C (p.Tyr191Ser) c.524A>C (p.Tyr175Ser) n.853A>C c.551A>C (p.Tyr184Ser) n.886A>C | |
1 | g.237377431A>G | CA345375735 | RYR2 | c.572A>G (p.Tyr191Cys) c.524A>G (p.Tyr175Cys) n.853A>G c.551A>G (p.Tyr184Cys) n.886A>G | |
1 | g.237377431A>T | CA345375736 | RYR2 | c.572A>T (p.Tyr191Phe) c.524A>T (p.Tyr175Phe) n.853A>T c.551A>T (p.Tyr184Phe) n.886A>T | gnomAD v4 |
1 | g.237377432C>A | CA345375737 | RYR2 | c.573C>A (p.Tyr191Ter) c.525C>A (p.Tyr175Ter) n.854C>A c.552C>A (p.Tyr184Ter) n.887C>A | |
1 | g.237377432C>G | CA345375738 | RYR2 | c.573C>G (p.Tyr191Ter) c.525C>G (p.Tyr175Ter) n.854C>G c.552C>G (p.Tyr184Ter) n.887C>G | |
1 | g.237377432C>T | CA423808760 | RYR2 | c.573C>T (p.Tyr191=) c.525C>T (p.Tyr175=) n.854C>T c.552C>T (p.Tyr184=) n.887C>T | |
1 | g.237377432_237377433delinsCT | CA2487310793 | RYR2 | c.573_574delinsCT (p.Tyr191=) c.525_526delinsCT (p.Tyr175=) n.854_855delinsCT c.552_553delinsCT (p.Tyr184=) n.887_888delinsCT | |
1 | g.237377433T>A | CA345375739 | RYR2 | c.574T>A (p.Leu192Met) c.526T>A (p.Leu176Met) n.855T>A c.553T>A (p.Leu185Met) n.888T>A | COSMIC COSMIC |
1 | g.237377433T>C | CA423808761 | RYR2 | c.574T>C (p.Leu192=) c.526T>C (p.Leu176=) n.855T>C c.553T>C (p.Leu185=) n.888T>C | |
1 | g.237377433T>G | CA345375740 | RYR2 | c.574T>G (p.Leu192Val) c.526T>G (p.Leu176Val) n.855T>G c.553T>G (p.Leu185Val) n.888T>G | ClinVar |
1 | g.237377434del | CA2487310794 | RYR2 | c.575del (p.Leu192CysfsTer?) c.527del (p.Leu176CysfsTer?) n.856del c.554del (p.Leu185CysfsTer?) n.889del | dbSNP |
1 | g.237377434T>A | CA345375743 | RYR2 | c.575T>A (p.Leu192Ter) c.527T>A (p.Leu176Ter) n.856T>A c.554T>A (p.Leu185Ter) n.889T>A | COSMIC COSMIC |
1 | g.237377434T>C | CA345375741 | RYR2 | c.575T>C (p.Leu192Ser) c.527T>C (p.Leu176Ser) n.856T>C c.554T>C (p.Leu185Ser) n.889T>C | |
1 | g.237377434T>G | CA345375742 | RYR2 | c.575T>G (p.Leu192Trp) c.527T>G (p.Leu176Trp) n.856T>G c.554T>G (p.Leu185Trp) n.889T>G | |
1 | g.237377435G>A | CA423808762 | RYR2 | c.576G>A (p.Leu192=) c.528G>A (p.Leu176=) n.857G>A c.555G>A (p.Leu185=) n.890G>A | |
1 | g.237377435G>C | CA345375744 | RYR2 | c.576G>C (p.Leu192Phe) c.528G>C (p.Leu176Phe) n.857G>C c.555G>C (p.Leu185Phe) n.890G>C | COSMIC COSMIC |
1 | g.237377435G>T | CA345375745 | RYR2 | c.576G>T (p.Leu192Phe) c.528G>T (p.Leu176Phe) n.857G>T c.555G>T (p.Leu185Phe) n.890G>T | |
1 | g.237377436G>A | CA345375746 | RYR2 | c.576+1G>A (n.576+1G>A) c.528+1G>A (n.528+1G>A) n.857+1G>A c.555+1G>A (n.555+1G>A) n.890+1G>A | |
1 | g.237377436G>C | CA345375747 | RYR2 | c.576+1G>C (n.576+1G>C) c.528+1G>C (n.528+1G>C) n.857+1G>C c.555+1G>C (n.555+1G>C) n.890+1G>C | gnomAD v4 |
1 | g.237377436G>T | CA345375748 | RYR2 | c.576+1G>T (n.576+1G>T) c.528+1G>T (n.528+1G>T) n.857+1G>T c.555+1G>T (n.555+1G>T) n.890+1G>T | ClinVar |
1 | g.237377437T>A | CA345375749 | RYR2 | c.576+2T>A (n.576+2T>A) c.528+2T>A (n.528+2T>A) n.857+2T>A c.555+2T>A (n.555+2T>A) n.890+2T>A | |
1 | g.237377437T>C | CA345375750 | RYR2 | c.576+2T>C (n.576+2T>C) c.528+2T>C (n.528+2T>C) n.857+2T>C c.555+2T>C (n.555+2T>C) n.890+2T>C | |
1 | g.237377437T>G | CA345375751 | RYR2 | c.576+2T>G (n.576+2T>G) c.528+2T>G (n.528+2T>G) n.857+2T>G c.555+2T>G (n.555+2T>G) n.890+2T>G | |
1 | g.237377439A= | CA2487310795 | RYR2 | c.576+4A= (n.576+4A=) c.528+4A= (n.528+4A=) n.857+4A= c.555+4A= (n.555+4A=) n.890+4A= | |
1 | g.237377439A>C | CA645519161 | RYR2 | c.576+4A>C (n.576+4A>C) c.528+4A>C (n.528+4A>C) n.857+4A>C c.555+4A>C (n.555+4A>C) n.890+4A>C | dbSNP COSMIC COSMIC |
1 | g.237377439A>T | CA423808763 | RYR2 | c.576+4A>T (n.576+4A>T) c.528+4A>T (n.528+4A>T) n.857+4A>T c.555+4A>T (n.555+4A>T) n.890+4A>T | COSMIC COSMIC |
1 | g.237377442G>A | CA733264517 | RYR2 | c.576+7G>A (n.576+7G>A) c.528+7G>A (n.528+7G>A) n.857+7G>A c.555+7G>A (n.555+7G>A) n.890+7G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237377442G>C | CA010028 | RYR2 | c.576+7G>C (n.576+7G>C) c.528+7G>C (n.528+7G>C) n.857+7G>C c.555+7G>C (n.555+7G>C) n.890+7G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377442G= | CA1140229753 | RYR2 | c.576+7G= (n.576+7G=) c.528+7G= (n.528+7G=) n.857+7G= c.555+7G= (n.555+7G=) n.890+7G= | |
1 | g.237377444G>A | CA086963 | RYR2 | c.576+9G>A (n.576+9G>A) c.528+9G>A (n.528+9G>A) n.857+9G>A c.555+9G>A (n.555+9G>A) n.890+9G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237377444G>C | CA2748270814 | RYR2 | c.576+9G>C (n.576+9G>C) c.528+9G>C (n.528+9G>C) n.857+9G>C c.555+9G>C (n.555+9G>C) n.890+9G>C | |
1 | g.237377444G= | CA1148882143 | RYR2 | c.576+9G= (n.576+9G=) c.528+9G= (n.528+9G=) n.857+9G= c.555+9G= (n.555+9G=) n.890+9G= | |
1 | g.237377445G>T | CA2651197423 | RYR2 | c.576+10G>T (n.576+10G>T) c.528+10G>T (n.528+10G>T) n.857+10G>T c.555+10G>T (n.555+10G>T) n.890+10G>T | gnomAD v4 |
1 | g.237377448A= | CA2487310796 | RYR2 | c.576+13A= (n.576+13A=) c.528+13A= (n.528+13A=) n.857+13A= c.555+13A= (n.555+13A=) n.890+13A= | |
1 | g.237377448A>G | CA733264526 | RYR2 | c.576+13A>G (n.576+13A>G) c.528+13A>G (n.528+13A>G) n.857+13A>G c.555+13A>G (n.555+13A>G) n.890+13A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237377449G>A | CA086957 | RYR2 | c.576+14G>A (n.576+14G>A) c.528+14G>A (n.528+14G>A) n.857+14G>A c.555+14G>A (n.555+14G>A) n.890+14G>A | dbSNP ExAC gnomAD v4 |
1 | g.237377449G= | CA2487310797 | RYR2 | c.576+14G= (n.576+14G=) c.528+14G= (n.528+14G=) n.857+14G= c.555+14G= (n.555+14G=) n.890+14G= | |
1 | g.237377449_237377450insAGAAAGAAT | CA2551839537 | RYR2 | c.576+14_576+15insAGAAAGAAT (n.576+14_576+15insAGAAAGAAT) c.528+14_528+15insAGAAAGAAT (n.528+14_528+15insAGAAAGAAT) n.857+14_857+15insAGAAAGAAT c.555+14_555+15insAGAAAGAAT (n.555+14_555+15insAGAAAGAAT) n.890+14_890+15insAGAAAGAAT | |
1 | g.237377451A>G | CA2651197424 | RYR2 | c.576+16A>G (n.576+16A>G) c.528+16A>G (n.528+16A>G) n.857+16A>G c.555+16A>G (n.555+16A>G) n.890+16A>G | gnomAD v4 |
1 | g.237377451_237377452delinsAG | CA2487310798 | RYR2 | c.576+16_576+17delinsAG (n.576+16_576+17delinsAG) c.528+16_528+17delinsAG (n.528+16_528+17delinsAG) n.857+16_857+17delinsAG c.555+16_555+17delinsAG (n.555+16_555+17delinsAG) n.890+16_890+17delinsAG | |
1 | g.237377453del | CA086958 | RYR2 | c.576+18del (n.576+18del) c.528+18del (n.528+18del) n.857+18del c.555+18del (n.555+18del) n.890+18del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377454A>G | CA2651197425 | RYR2 | c.576+19A>G (n.576+19A>G) c.528+19A>G (n.528+19A>G) n.857+19A>G c.555+19A>G (n.555+19A>G) n.890+19A>G | gnomAD v4 |
1 | g.237377454A>T | CA2748270815 | RYR2 | c.576+19A>T (n.576+19A>T) c.528+19A>T (n.528+19A>T) n.857+19A>T c.555+19A>T (n.555+19A>T) n.890+19A>T | |
1 | g.237377455T>C | CA529529458 | RYR2 | c.576+20T>C (n.576+20T>C) c.528+20T>C (n.528+20T>C) n.857+20T>C c.555+20T>C (n.555+20T>C) n.890+20T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.237377455T>G | CA529529460 | RYR2 | c.576+20T>G (n.576+20T>G) c.528+20T>G (n.528+20T>G) n.857+20T>G c.555+20T>G (n.555+20T>G) n.890+20T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377455T= | CA2487310799 | RYR2 | c.576+20T= (n.576+20T=) c.528+20T= (n.528+20T=) n.857+20T= c.555+20T= (n.555+20T=) n.890+20T= | |
1 | g.237377456C>A | CA2574455288 | RYR2 | c.576+21C>A (n.576+21C>A) c.528+21C>A (n.528+21C>A) n.857+21C>A c.555+21C>A (n.555+21C>A) n.890+21C>A | gnomAD v4 |
1 | g.237377456C= | CA2487310800 | RYR2 | c.576+21C= (n.576+21C=) c.528+21C= (n.528+21C=) n.857+21C= c.555+21C= (n.555+21C=) n.890+21C= | |
1 | g.237377456C>T | CA086959 | RYR2 | c.576+21C>T (n.576+21C>T) c.528+21C>T (n.528+21C>T) n.857+21C>T c.555+21C>T (n.555+21C>T) n.890+21C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377457A= | CA1149109451 | RYR2 | c.576+22A= (n.576+22A=) c.528+22A= (n.528+22A=) n.857+22A= c.555+22A= (n.555+22A=) n.890+22A= | |
1 | g.237377457A>G | CA2487310801 | RYR2 | c.576+22A>G (n.576+22A>G) c.528+22A>G (n.528+22A>G) n.857+22A>G c.555+22A>G (n.555+22A>G) n.890+22A>G | dbSNP gnomAD v4 |
1 | g.237377457A>T | CA086960 | RYR2 | c.576+22A>T (n.576+22A>T) c.528+22A>T (n.528+22A>T) n.857+22A>T c.555+22A>T (n.555+22A>T) n.890+22A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377458T>G | CA086961 | RYR2 | c.576+23T>G (n.576+23T>G) c.528+23T>G (n.528+23T>G) n.857+23T>G c.555+23T>G (n.555+23T>G) n.890+23T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237377458T= | CA2487310802 | RYR2 | c.576+23T= (n.576+23T=) c.528+23T= (n.528+23T=) n.857+23T= c.555+23T= (n.555+23T=) n.890+23T= | |
1 | g.237377459G>A | CA2574455291 | RYR2 | c.576+24G>A (n.576+24G>A) c.528+24G>A (n.528+24G>A) n.857+24G>A c.555+24G>A (n.555+24G>A) n.890+24G>A | |
1 | g.237377460T>A | CA2651197426 | RYR2 | c.576+25T>A (n.576+25T>A) c.528+25T>A (n.528+25T>A) n.857+25T>A c.555+25T>A (n.555+25T>A) n.890+25T>A | gnomAD v4 |
1 | g.237377460T>C | CA1013713499 | RYR2 | c.576+25T>C (n.576+25T>C) c.528+25T>C (n.528+25T>C) n.857+25T>C c.555+25T>C (n.555+25T>C) n.890+25T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237377460T= | CA2487310803 | RYR2 | c.576+25T= (n.576+25T=) c.528+25T= (n.528+25T=) n.857+25T= c.555+25T= (n.555+25T=) n.890+25T= | |
1 | g.237377461A>G | CA2651197427 | RYR2 | c.576+26A>G (n.576+26A>G) c.528+26A>G (n.528+26A>G) n.857+26A>G c.555+26A>G (n.555+26A>G) n.890+26A>G | gnomAD v4 |
1 | g.237377463C>A | CA2651197428 | RYR2 | c.576+28C>A (n.576+28C>A) c.528+28C>A (n.528+28C>A) n.857+28C>A c.555+28C>A (n.555+28C>A) n.890+28C>A | gnomAD v4 |
1 | g.237377466C>A | CA2651197429 | RYR2 | c.576+31C>A (n.576+31C>A) c.528+31C>A (n.528+31C>A) n.857+31C>A c.555+31C>A (n.555+31C>A) n.890+31C>A | gnomAD v4 |
1 | g.237377466C= | CA2487310804 | RYR2 | c.576+31C= (n.576+31C=) c.528+31C= (n.528+31C=) n.857+31C= c.555+31C= (n.555+31C=) n.890+31C= | |
1 | g.237377466C>G | CA2698207780 | RYR2 | c.576+31C>G (n.576+31C>G) c.528+31C>G (n.528+31C>G) n.857+31C>G c.555+31C>G (n.555+31C>G) n.890+31C>G | dbSNP |
1 | g.237377466C>T | CA2487310805 | RYR2 | c.576+31C>T (n.576+31C>T) c.528+31C>T (n.528+31C>T) n.857+31C>T c.555+31C>T (n.555+31C>T) n.890+31C>T | dbSNP gnomAD v4 |
1 | g.237377467T>C | CA2651197430 | RYR2 | c.576+32T>C (n.576+32T>C) c.528+32T>C (n.528+32T>C) n.857+32T>C c.555+32T>C (n.555+32T>C) n.890+32T>C | gnomAD v4 |
1 | g.237377467T>G | CA2651197431 | RYR2 | c.576+32T>G (n.576+32T>G) c.528+32T>G (n.528+32T>G) n.857+32T>G c.555+32T>G (n.555+32T>G) n.890+32T>G | gnomAD v4 |
1 | g.237377469A>G | CA2651197432 | RYR2 | c.576+34A>G (n.576+34A>G) c.528+34A>G (n.528+34A>G) n.857+34A>G c.555+34A>G (n.555+34A>G) n.890+34A>G | gnomAD v4 |
1 | g.237377470T= | CA2487310806 | RYR2 | c.576+35T= (n.576+35T=) c.528+35T= (n.528+35T=) n.857+35T= c.555+35T= (n.555+35T=) n.890+35T= | |
1 | g.237377471A>G | CA2651197433 | RYR2 | c.576+36A>G (n.576+36A>G) c.528+36A>G (n.528+36A>G) n.857+36A>G c.555+36A>G (n.555+36A>G) n.890+36A>G | gnomAD v4 |
1 | g.237377471dup | CA733264532 | RYR2 | c.576+36dup (n.576+36dup) c.528+36dup (n.528+36dup) n.857+36dup c.555+36dup (n.555+36dup) n.890+36dup | dbSNP |
1 | g.237377472T>C | CA39774136 | RYR2 | c.576+37T>C (n.576+37T>C) c.528+37T>C (n.528+37T>C) n.857+37T>C c.555+37T>C (n.555+37T>C) n.890+37T>C | dbSNP gnomAD v4 |
1 | g.237377472T= | CA2487310807 | RYR2 | c.576+37T= (n.576+37T=) c.528+37T= (n.528+37T=) n.857+37T= c.555+37T= (n.555+37T=) n.890+37T= | |
1 | g.237377473G>A | CA2651197434 | RYR2 | c.576+38G>A (n.576+38G>A) c.528+38G>A (n.528+38G>A) n.857+38G>A c.555+38G>A (n.555+38G>A) n.890+38G>A | gnomAD v4 |
1 | g.237377474C>A | CA2651197435 | RYR2 | c.576+39C>A (n.576+39C>A) c.528+39C>A (n.528+39C>A) n.857+39C>A c.555+39C>A (n.555+39C>A) n.890+39C>A | gnomAD v4 |
1 | g.237377475T>C | CA2651197436 | RYR2 | c.576+40T>C (n.576+40T>C) c.528+40T>C (n.528+40T>C) n.857+40T>C c.555+40T>C (n.555+40T>C) n.890+40T>C | gnomAD v4 |
1 | g.237377476A>G | CA2574455293 | RYR2 | c.576+41A>G (n.576+41A>G) c.528+41A>G (n.528+41A>G) n.857+41A>G c.555+41A>G (n.555+41A>G) n.890+41A>G | |
1 | g.237377477A= | CA2487310808 | RYR2 | c.576+42A= (n.576+42A=) c.528+42A= (n.528+42A=) n.857+42A= c.555+42A= (n.555+42A=) n.890+42A= | |
1 | g.237377477A>C | CA086962 | RYR2 | c.576+42A>C (n.576+42A>C) c.528+42A>C (n.528+42A>C) n.857+42A>C c.555+42A>C (n.555+42A>C) n.890+42A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237377477A>G | CA2574455297 | RYR2 | c.576+42A>G (n.576+42A>G) c.528+42A>G (n.528+42A>G) n.857+42A>G c.555+42A>G (n.555+42A>G) n.890+42A>G | |
1 | g.237377480G>A | CA2651197437 | RYR2 | c.576+45G>A (n.576+45G>A) c.528+45G>A (n.528+45G>A) n.857+45G>A c.555+45G>A (n.555+45G>A) n.890+45G>A | gnomAD v4 |
1 | g.237377480G= | CA2487310810 | RYR2 | c.576+45G= (n.576+45G=) c.528+45G= (n.528+45G=) n.857+45G= c.555+45G= (n.555+45G=) n.890+45G= | |
1 | g.237377480G>T | CA2487310809 | RYR2 | c.576+45G>T (n.576+45G>T) c.528+45G>T (n.528+45G>T) n.857+45G>T c.555+45G>T (n.555+45G>T) n.890+45G>T | dbSNP gnomAD v4 |