Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672449A>C | CA471739911 | BAG3 | c.702A>C (p.Pro234=) c.528A>C (p.Pro176=) | |
10 | g.119672449A>G | CA471739913 | BAG3 | c.702A>G (p.Pro234=) c.528A>G (p.Pro176=) | ClinVar |
10 | g.119672449A>T | CA471739914 | BAG3 | c.702A>T (p.Pro234=) c.528A>T (p.Pro176=) | |
10 | g.119672450G>A | CA378295621 | BAG3 | c.703G>A (p.Ala235Thr) c.529G>A (p.Ala177Thr) | |
10 | g.119672450G>C | CA378295622 | BAG3 | c.703G>C (p.Ala235Pro) c.529G>C (p.Ala177Pro) | |
10 | g.119672450G>T | CA378295623 | BAG3 | c.703G>T (p.Ala235Ser) c.529G>T (p.Ala177Ser) | |
10 | g.119672451C>A | CA378295624 | BAG3 | c.704C>A (p.Ala235Glu) c.530C>A (p.Ala177Glu) | |
10 | g.119672451C= | CA1940193406 | BAG3 | c.704C= (p.Ala235=) c.530C= (p.Ala177=) | |
10 | g.119672451C>G | CA378295625 | BAG3 | c.704C>G (p.Ala235Gly) c.530C>G (p.Ala177Gly) | |
10 | g.119672451C>T | CA5716398 | BAG3 | c.704C>T (p.Ala235Val) c.530C>T (p.Ala177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672452G>A | CA5716399 | BAG3 | c.705G>A (p.Ala235=) c.531G>A (p.Ala177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672452G>C | CA471739920 | BAG3 | c.705G>C (p.Ala235=) c.531G>C (p.Ala177=) | |
10 | g.119672452G= | CA1940193407 | BAG3 | c.705G= (p.Ala235=) c.531G= (p.Ala177=) | |
10 | g.119672452G>T | CA471739921 | BAG3 | c.705G>T (p.Ala235=) c.531G>T (p.Ala177=) | ClinVar dbSNP gnomAD v4 |
10 | g.119672453C>A | CA378295626 | BAG3 | c.706C>A (p.Gln236Lys) c.532C>A (p.Gln178Lys) | |
10 | g.119672453C>G | CA378295628 | BAG3 | c.706C>G (p.Gln236Glu) c.532C>G (p.Gln178Glu) | |
10 | g.119672453C>T | CA378295627 | BAG3 | c.706C>T (p.Gln236Ter) c.532C>T (p.Gln178Ter) | |
10 | g.119672454A= | CA1940193408 | BAG3 | c.707A= (p.Gln236=) c.533A= (p.Gln178=) | |
10 | g.119672454A>C | CA378295629 | BAG3 | c.707A>C (p.Gln236Pro) c.533A>C (p.Gln178Pro) | |
10 | g.119672454A>G | CA214221883 | BAG3 | c.707A>G (p.Gln236Arg) c.533A>G (p.Gln178Arg) | dbSNP |
10 | g.119672454A>T | CA378295630 | BAG3 | c.707A>T (p.Gln236Leu) c.533A>T (p.Gln178Leu) | |
10 | g.119672455G>A | CA471739926 | BAG3 | c.708G>A (p.Gln236=) c.534G>A (p.Gln178=) | |
10 | g.119672455G>C | CA378295631 | BAG3 | c.708G>C (p.Gln236His) c.534G>C (p.Gln178His) | |
10 | g.119672455G>T | CA378295632 | BAG3 | c.708G>T (p.Gln236His) c.534G>T (p.Gln178His) | |
10 | g.119672456C>A | CA378295633 | BAG3 | c.709C>A (p.Gln237Lys) c.535C>A (p.Gln179Lys) | |
10 | g.119672456C>G | CA378295634 | BAG3 | c.709C>G (p.Gln237Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
10 | g.119672456C>T | CA378295635 | BAG3 | c.709C>T (p.Gln237Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP |
10 | g.119672457A= | CA1940193409 | BAG3 | c.710A= (p.Gln237=) c.536A= (p.Gln179=) | |
10 | g.119672457A>C | CA378295636 | BAG3 | c.710A>C (p.Gln237Pro) c.536A>C (p.Gln179Pro) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672457A>G | CA378295637 | BAG3 | c.710A>G (p.Gln237Arg) c.536A>G (p.Gln179Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672457A>T | CA378295638 | BAG3 | c.710A>T (p.Gln237Leu) c.536A>T (p.Gln179Leu) | |
10 | g.119672458G>A | CA471739932 | BAG3 | c.711G>A (p.Gln237=) c.537G>A (p.Gln179=) | |
10 | g.119672458G>C | CA378295639 | BAG3 | c.711G>C (p.Gln237His) c.537G>C (p.Gln179His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672458G= | CA1940193410 | BAG3 | c.711G= (p.Gln237=) c.537G= (p.Gln179=) | |
10 | g.119672458G>T | CA214221886 | BAG3 | c.711G>T (p.Gln237His) c.537G>T (p.Gln179His) | dbSNP |
10 | g.119672459G>A | CA378295642 | BAG3 | c.712G>A (p.Gly238Arg) c.538G>A (p.Gly180Arg) | ClinVar |
10 | g.119672459G>C | CA378295640 | BAG3 | c.712G>C (p.Gly238Arg) c.538G>C (p.Gly180Arg) | |
10 | g.119672459G>T | CA378295641 | BAG3 | c.712G>T (p.Gly238Trp) c.538G>T (p.Gly180Trp) | |
10 | g.119672460G>A | CA378295643 | BAG3 | c.713G>A (p.Gly238Glu) c.539G>A (p.Gly180Glu) | |
10 | g.119672460G>C | CA378295644 | BAG3 | c.713G>C (p.Gly238Ala) c.539G>C (p.Gly180Ala) | |
10 | g.119672460G>T | CA378295645 | BAG3 | c.713G>T (p.Gly238Val) c.539G>T (p.Gly180Val) | |
10 | g.119672461G>A | CA5716400 | BAG3 | c.714G>A (p.Gly238=) c.540G>A (p.Gly180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672461G>C | CA471739942 | BAG3 | c.714G>C (p.Gly238=) c.540G>C (p.Gly180=) | dbSNP gnomAD v4 |
10 | g.119672461G= | CA1940193411 | BAG3 | c.714G= (p.Gly238=) c.540G= (p.Gly180=) | |
10 | g.119672461G>T | CA471739939 | BAG3 | c.714G>T (p.Gly238=) c.540G>T (p.Gly180=) | ClinVar |
10 | g.119672462G>A | CA214221891 | BAG3 | c.715G>A (p.Glu239Lys) c.541G>A (p.Glu181Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672462G>C | CA378295646 | BAG3 | c.715G>C (p.Glu239Gln) c.541G>C (p.Glu181Gln) | |
10 | g.119672462G= | CA1940193412 | BAG3 | c.715G= (p.Glu239=) c.541G= (p.Glu181=) | |
10 | g.119672462G>T | CA378295647 | BAG3 | c.715G>T (p.Glu239Ter) c.541G>T (p.Glu181Ter) | ClinVar dbSNP |
10 | g.119672463A>C | CA378295648 | BAG3 | c.716A>C (p.Glu239Ala) c.542A>C (p.Glu181Ala) | |
10 | g.119672463A>G | CA378295649 | BAG3 | c.716A>G (p.Glu239Gly) c.542A>G (p.Glu181Gly) | |
10 | g.119672463A>T | CA378295650 | BAG3 | c.716A>T (p.Glu239Val) c.542A>T (p.Glu181Val) | |
10 | g.119672464G>A | CA471739948 | BAG3 | c.717G>A (p.Glu239=) c.543G>A (p.Glu181=) | |
10 | g.119672464G>C | CA378295651 | BAG3 | c.717G>C (p.Glu239Asp) c.543G>C (p.Glu181Asp) | |
10 | g.119672464G>T | CA378295652 | BAG3 | c.717G>T (p.Glu239Asp) c.543G>T (p.Glu181Asp) | |
10 | g.119672465T>A | CA378295653 | BAG3 | c.718T>A (p.Tyr240Asn) c.544T>A (p.Tyr182Asn) | |
10 | g.119672465T>C | CA378295655 | BAG3 | c.718T>C (p.Tyr240His) c.544T>C (p.Tyr182His) | |
10 | g.119672465T>G | CA378295654 | BAG3 | c.718T>G (p.Tyr240Asp) c.544T>G (p.Tyr182Asp) | |
10 | g.119672466A>C | CA378295656 | BAG3 | c.719A>C (p.Tyr240Ser) c.545A>C (p.Tyr182Ser) | |
10 | g.119672466A>G | CA378295658 | BAG3 | c.719A>G (p.Tyr240Cys) c.545A>G (p.Tyr182Cys) | |
10 | g.119672466A>T | CA378295657 | BAG3 | c.719A>T (p.Tyr240Phe) c.545A>T (p.Tyr182Phe) | |
10 | g.119672467C>A | CA378295659 | BAG3 | c.720C>A (p.Tyr240Ter) c.546C>A (p.Tyr182Ter) | |
10 | g.119672467C>G | CA378295660 | BAG3 | c.720C>G (p.Tyr240Ter) c.546C>G (p.Tyr182Ter) | ClinVar gnomAD v4 |
10 | g.119672467C>T | CA471739952 | BAG3 | c.720C>T (p.Tyr240=) c.546C>T (p.Tyr182=) | gnomAD v4 |
10 | g.119672468C>A | CA378295661 | BAG3 | c.721C>A (p.Gln241Lys) c.547C>A (p.Gln183Lys) | |
10 | g.119672468C>G | CA378295662 | BAG3 | c.721C>G (p.Gln241Glu) c.547C>G (p.Gln183Glu) | |
10 | g.119672468C>T | CA378295663 | BAG3 | c.721C>T (p.Gln241Ter) c.547C>T (p.Gln183Ter) | |
10 | g.119672469A= | CA1940193413 | BAG3 | c.722A= (p.Gln241=) c.548A= (p.Gln183=) | |
10 | g.119672469A>C | CA378295664 | BAG3 | c.722A>C (p.Gln241Pro) c.548A>C (p.Gln183Pro) | |
10 | g.119672469A>G | CA378295665 | BAG3 | c.722A>G (p.Gln241Arg) c.548A>G (p.Gln183Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672469A>T | CA378295666 | BAG3 | c.722A>T (p.Gln241Leu) c.548A>T (p.Gln183Leu) | |
10 | g.119672470G>A | CA471739961 | BAG3 | c.723G>A (p.Gln241=) c.549G>A (p.Gln183=) | |
10 | g.119672470G>C | CA378295667 | BAG3 | c.723G>C (p.Gln241His) c.549G>C (p.Gln183His) | |
10 | g.119672470G>T | CA378295668 | BAG3 | c.723G>T (p.Gln241His) c.549G>T (p.Gln183His) | |
10 | g.119672471A= | CA1940193414 | BAG3 | c.724A= (p.Thr242=) c.550A= (p.Thr184=) | |
10 | g.119672471A>C | CA5716401 | BAG3 | c.724A>C (p.Thr242Pro) c.550A>C (p.Thr184Pro) | dbSNP ExAC gnomAD v2 |
10 | g.119672471A>G | CA378295669 | BAG3 | c.724A>G (p.Thr242Ala) c.550A>G (p.Thr184Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672471A>T | CA5716402 | BAG3 | c.724A>T (p.Thr242Ser) c.550A>T (p.Thr184Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672472C>A | CA378295670 | BAG3 | c.725C>A (p.Thr242Asn) c.551C>A (p.Thr184Asn) | |
10 | g.119672472C>G | CA378295671 | BAG3 | c.725C>G (p.Thr242Ser) c.551C>G (p.Thr184Ser) | |
10 | g.119672472C>T | CA378295672 | BAG3 | c.725C>T (p.Thr242Ile) c.551C>T (p.Thr184Ile) | |
10 | g.119672474dup | CA2580082468 | BAG3 | c.727dup (p.His243ProfsTer12) c.553dup (p.His185ProfsTer12) | ClinVar |
10 | g.119672474del | CA1139532242 | BAG3 | c.727del (p.His243ThrfsTer?) c.553del (p.His185ThrfsTer?) | dbSNP |
10 | g.119672473C>A | CA471739968 | BAG3 | c.726C>A (p.Thr242=) c.552C>A (p.Thr184=) | |
10 | g.119672473C>G | CA471739970 | BAG3 | c.726C>G (p.Thr242=) c.552C>G (p.Thr184=) | COSMIC |
10 | g.119672473C>T | CA471739971 | BAG3 | c.726C>T (p.Thr242=) c.552C>T (p.Thr184=) | |
10 | g.119672474C>A | CA378295673 | BAG3 | c.727C>A (p.His243Asn) c.553C>A (p.His185Asn) | |
10 | g.119672474C>G | CA378295674 | BAG3 | c.727C>G (p.His243Asp) c.553C>G (p.His185Asp) | |
10 | g.119672474C>T | CA378295675 | BAG3 | c.727C>T (p.His243Tyr) c.553C>T (p.His185Tyr) | |
10 | g.119672475A= | CA1940193415 | BAG3 | c.728A= (p.His243=) c.554A= (p.His185=) | |
10 | g.119672475A>C | CA5716403 | BAG3 | c.728A>C (p.His243Pro) c.554A>C (p.His185Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672475A>G | CA378295676 | BAG3 | c.728A>G (p.His243Arg) c.554A>G (p.His185Arg) | |
10 | g.119672475A>T | CA378295677 | BAG3 | c.728A>T (p.His243Leu) c.554A>T (p.His185Leu) | |
10 | g.119672476C>A | CA378295678 | BAG3 | c.729C>A (p.His243Gln) c.555C>A (p.His185Gln) | gnomAD v4 |
10 | g.119672476C>G | CA378295679 | BAG3 | c.729C>G (p.His243Gln) c.555C>G (p.His185Gln) | ClinVar |
10 | g.119672476C>T | CA471739977 | BAG3 | c.729C>T (p.His243=) c.555C>T (p.His185=) | gnomAD v4 |
10 | g.119672477C>A | CA378295680 | BAG3 | c.730C>A (p.Gln244Lys) c.556C>A (p.Gln186Lys) | |
10 | g.119672477C= | CA1940193416 | BAG3 | c.730C= (p.Gln244=) c.556C= (p.Gln186=) | |
10 | g.119672477C>G | CA378295681 | BAG3 | c.730C>G (p.Gln244Glu) c.556C>G (p.Gln186Glu) | gnomAD v4 |
10 | g.119672477C>T | CA10576778 | BAG3 | c.730C>T (p.Gln244Ter) c.556C>T (p.Gln186Ter) | ClinVar dbSNP |
10 | g.119672478A>C | CA378295682 | BAG3 | c.731A>C (p.Gln244Pro) c.557A>C (p.Gln186Pro) | |
10 | g.119672478A>G | CA378295683 | BAG3 | c.731A>G (p.Gln244Arg) c.557A>G (p.Gln186Arg) | |
10 | g.119672478A>T | CA378295684 | BAG3 | c.731A>T (p.Gln244Leu) c.557A>T (p.Gln186Leu) | |
10 | g.119672479G>A | CA471739986 | BAG3 | c.732G>A (p.Gln244=) c.558G>A (p.Gln186=) | |
10 | g.119672479G>C | CA378295685 | BAG3 | c.732G>C (p.Gln244His) c.558G>C (p.Gln186His) | |
10 | g.119672479G>T | CA378295686 | BAG3 | c.732G>T (p.Gln244His) c.558G>T (p.Gln186His) | |
10 | g.119672480C>A | CA378295689 | BAG3 | c.733C>A (p.Pro245Thr) c.559C>A (p.Pro187Thr) | |
10 | g.119672480C= | CA1940193417 | BAG3 | c.733C= (p.Pro245=) c.559C= (p.Pro187=) | |
10 | g.119672480C>G | CA378295688 | BAG3 | c.733C>G (p.Pro245Ala) c.559C>G (p.Pro187Ala) | dbSNP gnomAD v4 |
10 | g.119672480C>T | CA378295687 | BAG3 | c.733C>T (p.Pro245Ser) c.559C>T (p.Pro187Ser) | |
10 | g.119672481C>A | CA378295690 | BAG3 | c.734C>A (p.Pro245His) c.560C>A (p.Pro187His) | gnomAD v4 |
10 | g.119672481C>G | CA378295691 | BAG3 | c.734C>G (p.Pro245Arg) c.560C>G (p.Pro187Arg) | |
10 | g.119672481C>T | CA378295692 | BAG3 | c.734C>T (p.Pro245Leu) c.560C>T (p.Pro187Leu) | |
10 | g.119672482T>A | CA471739997 | BAG3 | c.735T>A (p.Pro245=) c.561T>A (p.Pro187=) | |
10 | g.119672482T>C | CA471739995 | BAG3 | c.735T>C (p.Pro245=) c.561T>C (p.Pro187=) | |
10 | g.119672482T>G | CA471739994 | BAG3 | c.735T>G (p.Pro245=) c.561T>G (p.Pro187=) | |
10 | g.119672483G>A | CA378295693 | BAG3 | c.736G>A (p.Val246Met) c.562G>A (p.Val188Met) | |
10 | g.119672483G>C | CA378295694 | BAG3 | c.736G>C (p.Val246Leu) c.562G>C (p.Val188Leu) | |
10 | g.119672483G>T | CA378295695 | BAG3 | c.736G>T (p.Val246Leu) c.562G>T (p.Val188Leu) | |
10 | g.119672484T>A | CA378295696 | BAG3 | c.737T>A (p.Val246Glu) c.563T>A (p.Val188Glu) | |
10 | g.119672484T>C | CA5716404 | BAG3 | c.737T>C (p.Val246Ala) c.563T>C (p.Val188Ala) | ClinVar dbSNP ExAC |
10 | g.119672484T>G | CA378295697 | BAG3 | c.737T>G (p.Val246Gly) c.563T>G (p.Val188Gly) | |
10 | g.119672484T= | CA1940193418 | BAG3 | c.737T= (p.Val246=) c.563T= (p.Val188=) | |
10 | g.119672485G>A | CA471740005 | BAG3 | c.738G>A (p.Val246=) c.564G>A (p.Val188=) | |
10 | g.119672485G>C | CA471740004 | BAG3 | c.738G>C (p.Val246=) c.564G>C (p.Val188=) | |
10 | g.119672485G>T | CA471740003 | BAG3 | c.738G>T (p.Val246=) c.564G>T (p.Val188=) | |
10 | g.119672486T>A | CA378295698 | BAG3 | c.739T>A (p.Tyr247Asn) c.565T>A (p.Tyr189Asn) | |
10 | g.119672486T>C | CA378295699 | BAG3 | c.739T>C (p.Tyr247His) c.565T>C (p.Tyr189His) | |
10 | g.119672486T>G | CA378295700 | BAG3 | c.739T>G (p.Tyr247Asp) c.565T>G (p.Tyr189Asp) | |
10 | g.119672487A>C | CA378295701 | BAG3 | c.740A>C (p.Tyr247Ser) c.566A>C (p.Tyr189Ser) | |
10 | g.119672487A>G | CA378295702 | BAG3 | c.740A>G (p.Tyr247Cys) c.566A>G (p.Tyr189Cys) | |
10 | g.119672487A>T | CA378295703 | BAG3 | c.740A>T (p.Tyr247Phe) c.566A>T (p.Tyr189Phe) | |
10 | g.119672488C>A | CA378295704 | BAG3 | c.741C>A (p.Tyr247Ter) c.567C>A (p.Tyr189Ter) | |
10 | g.119672488C= | CA1940193419 | BAG3 | c.741C= (p.Tyr247=) c.567C= (p.Tyr189=) | |
10 | g.119672488C>G | CA378295705 | BAG3 | c.741C>G (p.Tyr247Ter) c.567C>G (p.Tyr189Ter) | |
10 | g.119672488C>T | CA471740011 | BAG3 | c.741C>T (p.Tyr247=) c.567C>T (p.Tyr189=) | ClinVar dbSNP |
10 | g.119672489C>A | CA378295706 | BAG3 | c.742C>A (p.His248Asn) c.568C>A (p.His190Asn) | |
10 | g.119672489C= | CA1940193420 | BAG3 | c.742C= (p.His248=) c.568C= (p.His190=) | |
10 | g.119672489C>G | CA5716405 | BAG3 | c.742C>G (p.His248Asp) c.568C>G (p.His190Asp) | dbSNP ExAC gnomAD v2 |
10 | g.119672489C>T | CA378295707 | BAG3 | c.742C>T (p.His248Tyr) c.568C>T (p.His190Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672490A= | CA1940193421 | BAG3 | c.743A= (p.His248=) c.569A= (p.His190=) | |
10 | g.119672490A>C | CA378295709 | BAG3 | c.743A>C (p.His248Pro) c.569A>C (p.His190Pro) | |
10 | g.119672490A>G | CA308245 | BAG3 | c.743A>G (p.His248Arg) c.569A>G (p.His190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672490A>T | CA378295708 | BAG3 | c.743A>T (p.His248Leu) c.569A>T (p.His190Leu) | |
10 | g.119672491C>A | CA378295710 | BAG3 | c.744C>A (p.His248Gln) c.570C>A (p.His190Gln) | |
10 | g.119672491C>G | CA378295711 | BAG3 | c.744C>G (p.His248Gln) c.570C>G (p.His190Gln) | |
10 | g.119672491C>T | CA471740017 | BAG3 | c.744C>T (p.His248=) c.570C>T (p.His190=) | |
10 | g.119672492A>C | CA378295712 | BAG3 | c.745A>C (p.Lys249Gln) c.571A>C (p.Lys191Gln) | |
10 | g.119672492A>G | CA378295714 | BAG3 | c.745A>G (p.Lys249Glu) c.571A>G (p.Lys191Glu) | |
10 | g.119672492A>T | CA378295713 | BAG3 | c.745A>T (p.Lys249Ter) c.571A>T (p.Lys191Ter) | |
10 | g.119672493A>C | CA378295715 | BAG3 | c.746A>C (p.Lys249Thr) c.572A>C (p.Lys191Thr) | |
10 | g.119672493A>G | CA378295717 | BAG3 | c.746A>G (p.Lys249Arg) c.572A>G (p.Lys191Arg) | ClinVar |
10 | g.119672493A>T | CA378295716 | BAG3 | c.746A>T (p.Lys249Met) c.572A>T (p.Lys191Met) | |
10 | g.119672494G>A | CA471740020 | BAG3 | c.747G>A (p.Lys249=) c.573G>A (p.Lys191=) | ClinVar |
10 | g.119672494G>C | CA378295718 | BAG3 | c.747G>C (p.Lys249Asn) c.573G>C (p.Lys191Asn) | |
10 | g.119672494G>T | CA378295719 | BAG3 | c.747G>T (p.Lys249Asn) c.573G>T (p.Lys191Asn) | |
10 | g.119672495A= | CA1940193422 | BAG3 | c.748A= (p.Ile250=) c.574A= (p.Ile192=) | |
10 | g.119672495A>C | CA378295720 | BAG3 | c.748A>C (p.Ile250Leu) c.574A>C (p.Ile192Leu) | |
10 | g.119672495A>G | CA378295721 | BAG3 | c.748A>G (p.Ile250Val) c.574A>G (p.Ile192Val) | |
10 | g.119672495A>T | CA378295722 | BAG3 | c.748A>T (p.Ile250Phe) c.574A>T (p.Ile192Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672496T>A | CA378295723 | BAG3 | c.749T>A (p.Ile250Asn) c.575T>A (p.Ile192Asn) | |
10 | g.119672496T>C | CA378295724 | BAG3 | c.749T>C (p.Ile250Thr) c.575T>C (p.Ile192Thr) | dbSNP |
10 | g.119672496T>G | CA378295725 | BAG3 | c.749T>G (p.Ile250Ser) c.575T>G (p.Ile192Ser) | |
10 | g.119672496T= | CA1940193423 | BAG3 | c.749T= (p.Ile250=) c.575T= (p.Ile192=) | |
10 | g.119672496_119672497delinsTC | CA1940193424 | BAG3 | c.749_750delinsTC (p.Ile250=) c.575_576delinsTC (p.Ile192=) | |
10 | g.119672497C>A | CA471740027 | BAG3 | c.750C>A (p.Ile250=) c.576C>A (p.Ile192=) | |
10 | g.119672497C>G | CA378295726 | BAG3 | c.750C>G (p.Ile250Met) c.576C>G (p.Ile192Met) | ClinVar |
10 | g.119672497C>T | CA471740031 | BAG3 | c.750C>T (p.Ile250=) c.576C>T (p.Ile192=) | |
10 | g.119672498dup | CA2573050690 | BAG3 | c.751dup (p.Gln251ProfsTer4) c.577dup (p.Gln193ProfsTer4) | ClinVar |
10 | g.119672498del | CA1139661706 | BAG3 | c.751del (p.Gln251ArgfsTer?) c.577del (p.Gln193ArgfsTer?) | ClinVar dbSNP |
10 | g.119672498C>A | CA378295729 | BAG3 | c.751C>A (p.Gln251Lys) c.577C>A (p.Gln193Lys) | |
10 | g.119672498C= | CA1940193426 | BAG3 | c.751C= (p.Gln251=) c.577C= (p.Gln193=) | |
10 | g.119672498C>G | CA378295728 | BAG3 | c.751C>G (p.Gln251Glu) c.577C>G (p.Gln193Glu) | |
10 | g.119672498C>T | CA378295727 | BAG3 | c.751C>T (p.Gln251Ter) c.577C>T (p.Gln193Ter) | ClinVar dbSNP gnomAD v2 |
10 | g.119672499del | CA2573053245 | BAG3 | c.752del (p.Gln251ArgfsTer?) c.578del (p.Gln193ArgfsTer?) | dbSNP |
10 | g.119672499A>C | CA378295730 | BAG3 | c.752A>C (p.Gln251Pro) c.578A>C (p.Gln193Pro) | |
10 | g.119672499A>G | CA378295731 | BAG3 | c.752A>G (p.Gln251Arg) c.578A>G (p.Gln193Arg) | |
10 | g.119672499A>T | CA378295732 | BAG3 | c.752A>T (p.Gln251Leu) c.578A>T (p.Gln193Leu) | |
10 | g.119672500G>A | CA471740037 | BAG3 | c.753G>A (p.Gln251=) c.579G>A (p.Gln193=) | |
10 | g.119672500G>C | CA378295733 | BAG3 | c.753G>C (p.Gln251His) c.579G>C (p.Gln193His) | dbSNP gnomAD v4 |
10 | g.119672500G>T | CA378295734 | BAG3 | c.753G>T (p.Gln251His) c.579G>T (p.Gln193His) | |
10 | g.119672504dup | CA2832559734 | BAG3 | c.757dup (p.Asp253GlyfsTer2) c.583dup (p.Asp195GlyfsTer2) | |
10 | g.119672501G>A | CA378295735 | BAG3 | c.754G>A (p.Gly252Arg) c.580G>A (p.Gly194Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672501G>C | CA378295736 | BAG3 | c.754G>C (p.Gly252Arg) c.580G>C (p.Gly194Arg) | |
10 | g.119672501G= | CA1940193427 | BAG3 | c.754G= (p.Gly252=) c.580G= (p.Gly194=) | |
10 | g.119672501G>T | CA378295737 | BAG3 | c.754G>T (p.Gly252Trp) c.580G>T (p.Gly194Trp) | |
10 | g.119672502G>A | CA378295738 | BAG3 | c.755G>A (p.Gly252Glu) c.581G>A (p.Gly194Glu) | |
10 | g.119672502G>C | CA378295739 | BAG3 | c.755G>C (p.Gly252Ala) c.581G>C (p.Gly194Ala) | |
10 | g.119672502G>T | CA378295740 | BAG3 | c.755G>T (p.Gly252Val) c.581G>T (p.Gly194Val) | |
10 | g.119672503G>A | CA471740046 | BAG3 | c.756G>A (p.Gly252=) c.582G>A (p.Gly194=) | ClinVar dbSNP |
10 | g.119672503G>C | CA471740043 | BAG3 | c.756G>C (p.Gly252=) c.582G>C (p.Gly194=) | |
10 | g.119672503G= | CA1940193428 | BAG3 | c.756G= (p.Gly252=) c.582G= (p.Gly194=) | |
10 | g.119672503G>T | CA471740042 | BAG3 | c.756G>T (p.Gly252=) c.582G>T (p.Gly194=) | |
10 | g.119672504G>A | CA378295742 | BAG3 | c.757G>A (p.Asp253Asn) c.583G>A (p.Asp195Asn) | |
10 | g.119672504G>C | CA378295743 | BAG3 | c.757G>C (p.Asp253His) c.583G>C (p.Asp195His) | |
10 | g.119672504G>T | CA378295741 | BAG3 | c.757G>T (p.Asp253Tyr) c.583G>T (p.Asp195Tyr) | |
10 | g.119672505A>C | CA378295744 | BAG3 | c.758A>C (p.Asp253Ala) c.584A>C (p.Asp195Ala) | |
10 | g.119672505A>G | CA378295745 | BAG3 | c.758A>G (p.Asp253Gly) c.584A>G (p.Asp195Gly) | gnomAD v4 |
10 | g.119672505A>T | CA378295746 | BAG3 | c.758A>T (p.Asp253Val) c.584A>T (p.Asp195Val) | |
10 | g.119672506T>A | CA378295747 | BAG3 | c.759T>A (p.Asp253Glu) c.585T>A (p.Asp195Glu) | |
10 | g.119672506T>C | CA471740052 | BAG3 | c.759T>C (p.Asp253=) c.585T>C (p.Asp195=) | |
10 | g.119672506T>G | CA378295748 | BAG3 | c.759T>G (p.Asp253Glu) c.585T>G (p.Asp195Glu) | |
10 | g.119672507G>A | CA378295751 | BAG3 | c.760G>A (p.Asp254Asn) c.586G>A (p.Asp196Asn) | |
10 | g.119672507G>C | CA378295749 | BAG3 | c.760G>C (p.Asp254His) c.586G>C (p.Asp196His) | |
10 | g.119672507G>T | CA378295750 | BAG3 | c.760G>T (p.Asp254Tyr) c.586G>T (p.Asp196Tyr) | |
10 | g.119672508A>C | CA378295752 | BAG3 | c.761A>C (p.Asp254Ala) c.587A>C (p.Asp196Ala) | |
10 | g.119672508A>G | CA378295753 | BAG3 | c.761A>G (p.Asp254Gly) c.587A>G (p.Asp196Gly) | ClinVar dbSNP |
10 | g.119672508A>T | CA378295754 | BAG3 | c.761A>T (p.Asp254Val) c.587A>T (p.Asp196Val) | gnomAD v4 |
10 | g.119672509C>A | CA378295755 | BAG3 | c.762C>A (p.Asp254Glu) c.588C>A (p.Asp196Glu) | |
10 | g.119672509C>G | CA378295756 | BAG3 | c.762C>G (p.Asp254Glu) c.588C>G (p.Asp196Glu) | |
10 | g.119672509C>T | CA471740060 | BAG3 | c.762C>T (p.Asp254=) c.588C>T (p.Asp196=) | |
10 | g.119672510T>A | CA378295757 | BAG3 | c.763T>A (p.Trp255Arg) c.589T>A (p.Trp197Arg) | |
10 | g.119672510T>C | CA378295759 | BAG3 | c.763T>C (p.Trp255Arg) c.589T>C (p.Trp197Arg) | |
10 | g.119672510T>G | CA378295758 | BAG3 | c.763T>G (p.Trp255Gly) c.589T>G (p.Trp197Gly) | |
10 | g.119672511G>A | CA378295760 | BAG3 | c.764G>A (p.Trp255Ter) c.590G>A (p.Trp197Ter) | ClinVar |
10 | g.119672511G>C | CA378295761 | BAG3 | c.764G>C (p.Trp255Ser) c.590G>C (p.Trp197Ser) | |
10 | g.119672511G>T | CA378295762 | BAG3 | c.764G>T (p.Trp255Leu) c.590G>T (p.Trp197Leu) | |
10 | g.119672512G>A | CA378295763 | BAG3 | c.765G>A (p.Trp255Ter) c.591G>A (p.Trp197Ter) | ClinVar dbSNP |
10 | g.119672512G>C | CA378295764 | BAG3 | c.765G>C (p.Trp255Cys) c.591G>C (p.Trp197Cys) | |
10 | g.119672512G= | CA1940193429 | BAG3 | c.765G= (p.Trp255=) c.591G= (p.Trp197=) | |
10 | g.119672512G>T | CA378295765 | BAG3 | c.765G>T (p.Trp255Cys) c.591G>T (p.Trp197Cys) | |
10 | g.119672513G>A | CA378295766 | BAG3 | c.766G>A (p.Glu256Lys) c.592G>A (p.Glu198Lys) | |
10 | g.119672513G>C | CA378295767 | BAG3 | c.766G>C (p.Glu256Gln) c.592G>C (p.Glu198Gln) | |
10 | g.119672513G>T | CA378295768 | BAG3 | c.766G>T (p.Glu256Ter) c.592G>T (p.Glu198Ter) | ClinVar dbSNP |
10 | g.119672514A>C | CA378295769 | BAG3 | c.767A>C (p.Glu256Ala) c.593A>C (p.Glu198Ala) | |
10 | g.119672514A>G | CA378295770 | BAG3 | c.767A>G (p.Glu256Gly) c.593A>G (p.Glu198Gly) | |
10 | g.119672514A>T | CA378295771 | BAG3 | c.767A>T (p.Glu256Val) c.593A>T (p.Glu198Val) | |
10 | g.119672515G>A | CA471740075 | BAG3 | c.768G>A (p.Glu256=) c.594G>A (p.Glu198=) | ClinVar dbSNP |
10 | g.119672515G>C | CA378295773 | BAG3 | c.768G>C (p.Glu256Asp) c.594G>C (p.Glu198Asp) | |
10 | g.119672515G>T | CA378295772 | BAG3 | c.768G>T (p.Glu256Asp) c.594G>T (p.Glu198Asp) | |
10 | g.119672520_119672525del | CA2611160109 | BAG3 | c.773_778del (p.Arg258_Pro259del) c.599_604del (p.Arg200_Pro201del) | gnomAD v4 |
10 | g.119672516C>A | CA378295774 | BAG3 | c.769C>A (p.Pro257Thr) c.595C>A (p.Pro199Thr) | |
10 | g.119672516C>G | CA378295776 | BAG3 | c.769C>G (p.Pro257Ala) c.595C>G (p.Pro199Ala) | |
10 | g.119672516C>T | CA378295775 | BAG3 | c.769C>T (p.Pro257Ser) c.595C>T (p.Pro199Ser) | gnomAD v4 |
10 | g.119672519dup | CA2840726516 | BAG3 | c.772dup (p.Arg258ProfsTer?) c.598dup (p.Arg200ProfsTer?) | |
10 | g.119672517C>A | CA378295777 | BAG3 | c.770C>A (p.Pro257His) c.596C>A (p.Pro199His) | |
10 | g.119672517C= | CA1940193431 | BAG3 | c.770C= (p.Pro257=) c.596C= (p.Pro199=) | |
10 | g.119672517C>G | CA378295778 | BAG3 | c.770C>G (p.Pro257Arg) c.596C>G (p.Pro199Arg) | |
10 | g.119672517C>T | CA5716406 | BAG3 | c.770C>T (p.Pro257Leu) c.596C>T (p.Pro199Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672518C>A | CA471740082 | BAG3 | c.771C>A (p.Pro257=) c.597C>A (p.Pro199=) | |
10 | g.119672518C= | CA1940193432 | BAG3 | c.771C= (p.Pro257=) c.597C= (p.Pro199=) | |
10 | g.119672518C>G | CA5716407 | BAG3 | c.771C>G (p.Pro257=) c.597C>G (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672518C>T | CA175294 | BAG3 | c.771C>T (p.Pro257=) c.597C>T (p.Pro199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672519C>A | CA471740089 | BAG3 | c.772C>A (p.Arg258=) c.598C>A (p.Arg200=) | |
10 | g.119672519C= | CA1940193433 | BAG3 | c.772C= (p.Arg258=) c.598C= (p.Arg200=) | |
10 | g.119672519C>G | CA378295779 | BAG3 | c.772C>G (p.Arg258Gly) c.598C>G (p.Arg200Gly) | |
10 | g.119672519C>T | CA135025 | BAG3 | c.772C>T (p.Arg258Trp) c.598C>T (p.Arg200Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672520G>A | CA5716408 | BAG3 | c.773G>A (p.Arg258Gln) c.599G>A (p.Arg200Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672520G>C | CA378295780 | BAG3 | c.773G>C (p.Arg258Pro) c.599G>C (p.Arg200Pro) | |
10 | g.119672520G= | CA1940193434 | BAG3 | c.773G= (p.Arg258=) c.599G= (p.Arg200=) | |
10 | g.119672520G>T | CA378295781 | BAG3 | c.773G>T (p.Arg258Leu) c.599G>T (p.Arg200Leu) | |
10 | g.119672521G>A | CA471740099 | BAG3 | c.774G>A (p.Arg258=) c.600G>A (p.Arg200=) | |
10 | g.119672521G>C | CA471740097 | BAG3 | c.774G>C (p.Arg258=) c.600G>C (p.Arg200=) | |
10 | g.119672521G>T | CA471740093 | BAG3 | c.774G>T (p.Arg258=) c.600G>T (p.Arg200=) | |
10 | g.119672522C>A | CA378295782 | BAG3 | c.775C>A (p.Pro259Thr) c.601C>A (p.Pro201Thr) | |
10 | g.119672522C= | CA1940193435 | BAG3 | c.775C= (p.Pro259=) c.601C= (p.Pro201=) | |
10 | g.119672522C>G | CA378295783 | BAG3 | c.775C>G (p.Pro259Ala) c.601C>G (p.Pro201Ala) | |
10 | g.119672522C>T | CA214221961 | BAG3 | c.775C>T (p.Pro259Ser) c.601C>T (p.Pro201Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672523C>A | CA378295784 | BAG3 | c.776C>A (p.Pro259His) c.602C>A (p.Pro201His) | |
10 | g.119672523C= | CA1940193438 | BAG3 | c.776C= (p.Pro259=) c.602C= (p.Pro201=) | |
10 | g.119672523C>G | CA378295785 | BAG3 | c.776C>G (p.Pro259Arg) c.602C>G (p.Pro201Arg) | |
10 | g.119672523C>T | CA5716409 | BAG3 | c.776C>T (p.Pro259Leu) c.602C>T (p.Pro201Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672524C>A | CA471740108 | BAG3 | c.777C>A (p.Pro259=) c.603C>A (p.Pro201=) | |
10 | g.119672524C= | CA1940193441 | BAG3 | c.777C= (p.Pro259=) c.603C= (p.Pro201=) | |
10 | g.119672524C>G | CA471740110 | BAG3 | c.777C>G (p.Pro259=) c.603C>G (p.Pro201=) | |
10 | g.119672524C>T | CA471740113 | BAG3 | c.777C>T (p.Pro259=) c.603C>T (p.Pro201=) | ClinVar dbSNP |
10 | g.119672525C>A | CA378295786 | BAG3 | c.778C>A (p.Leu260Met) c.604C>A (p.Leu202Met) | |
10 | g.119672525C= | CA1940193443 | BAG3 | c.778C= (p.Leu260=) c.604C= (p.Leu202=) | |
10 | g.119672525C>G | CA378295787 | BAG3 | c.778C>G (p.Leu260Val) c.604C>G (p.Leu202Val) | |
10 | g.119672525C>T | CA471740116 | BAG3 | c.778C>T (p.Leu260=) c.604C>T (p.Leu202=) | dbSNP |
10 | g.119672526T>A | CA378295788 | BAG3 | c.779T>A (p.Leu260Gln) c.605T>A (p.Leu202Gln) | |
10 | g.119672526T>C | CA378295789 | BAG3 | c.779T>C (p.Leu260Pro) c.605T>C (p.Leu202Pro) | gnomAD v4 |
10 | g.119672526T>G | CA378295790 | BAG3 | c.779T>G (p.Leu260Arg) c.605T>G (p.Leu202Arg) | |
10 | g.119672526_119672541delinsTGCGGGCGGCATCCCC | CA1940193445 | BAG3 | c.779_794delinsTGCGGGCGGCATCCCC (p.Leu260=) c.605_620delinsTGCGGGCGGCATCCCC (p.Leu202=) | |
10 | g.119672527G>A | CA471740121 | BAG3 | c.780G>A (p.Leu260=) c.606G>A (p.Leu202=) | ClinVar |
10 | g.119672527G>C | CA471740126 | BAG3 | c.780G>C (p.Leu260=) c.606G>C (p.Leu202=) | |
10 | g.119672527G>T | CA471740125 | BAG3 | c.780G>T (p.Leu260=) c.606G>T (p.Leu202=) | |
10 | g.119672528_119672533del | CA2611160110 | BAG3 | c.781_786del (p.Arg261_Ala262del) c.607_612del (p.Arg203_Ala204del) | gnomAD v4 |
10 | g.119672528_119672542del | CA1940193446 | BAG3 | c.781_795del (p.Arg261_Pro265del) c.607_621del (p.Arg203_Pro207del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672528C>A | CA471740127 | BAG3 | c.781C>A (p.Arg261=) c.607C>A (p.Arg203=) | gnomAD v4 |
10 | g.119672528C= | CA1940193448 | BAG3 | c.781C= (p.Arg261=) c.607C= (p.Arg203=) | |
10 | g.119672528C>G | CA378295791 | BAG3 | c.781C>G (p.Arg261Gly) c.607C>G (p.Arg203Gly) | gnomAD v4 |
10 | g.119672528C>T | CA175297 | BAG3 | c.781C>T (p.Arg261Trp) c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672529G>A | CA5716410 | BAG3 | c.782G>A (p.Arg261Gln) c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672529G>C | CA378295792 | BAG3 | c.782G>C (p.Arg261Pro) c.608G>C (p.Arg203Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672529G= | CA1940193449 | BAG3 | c.782G= (p.Arg261=) c.608G= (p.Arg203=) | |
10 | g.119672529G>T | CA378295793 | BAG3 | c.782G>T (p.Arg261Leu) c.608G>T (p.Arg203Leu) | |
10 | g.119672530G>A | CA471740130 | BAG3 | c.783G>A (p.Arg261=) c.609G>A (p.Arg203=) | gnomAD v4 |
10 | g.119672530G>C | CA471740133 | BAG3 | c.783G>C (p.Arg261=) c.609G>C (p.Arg203=) | |
10 | g.119672530G>T | CA471740135 | BAG3 | c.783G>T (p.Arg261=) c.609G>T (p.Arg203=) | |
10 | g.119672531G>A | CA10581155 | BAG3 | c.784G>A (p.Ala262Thr) c.610G>A (p.Ala204Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.119672531G>C | CA378295795 | BAG3 | c.784G>C (p.Ala262Pro) c.610G>C (p.Ala204Pro) | |
10 | g.119672531G= | CA1940193450 | BAG3 | c.784G= (p.Ala262=) c.610G= (p.Ala204=) | |
10 | g.119672531G>T | CA378295794 | BAG3 | c.784G>T (p.Ala262Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
10 | g.119672532C>A | CA378295796 | BAG3 | c.785C>A (p.Ala262Glu) c.611C>A (p.Ala204Glu) | |
10 | g.119672532C= | CA1940193451 | BAG3 | c.785C= (p.Ala262=) c.611C= (p.Ala204=) | |
10 | g.119672532C>G | CA378295797 | BAG3 | c.785C>G (p.Ala262Gly) c.611C>G (p.Ala204Gly) | |
10 | g.119672532C>T | CA135031 | BAG3 | c.785C>T (p.Ala262Val) c.611C>T (p.Ala204Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672533G>A | CA5716411 | BAG3 | c.786G>A (p.Ala262=) c.612G>A (p.Ala204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672533G>C | CA471740140 | BAG3 | c.786G>C (p.Ala262=) c.612G>C (p.Ala204=) | |
10 | g.119672533G= | CA1940193452 | BAG3 | c.786G= (p.Ala262=) c.612G= (p.Ala204=) | |
10 | g.119672533G>T | CA471740141 | BAG3 | c.786G>T (p.Ala262=) c.612G>T (p.Ala204=) | |
10 | g.119672534G>A | CA5716412 | BAG3 | c.787G>A (p.Ala263Thr) c.613G>A (p.Ala205Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672534G>C | CA378295798 | BAG3 | c.787G>C (p.Ala263Pro) c.613G>C (p.Ala205Pro) | |
10 | g.119672534G= | CA1940193454 | BAG3 | c.787G= (p.Ala263=) c.613G= (p.Ala205=) | |
10 | g.119672534G>T | CA378295799 | BAG3 | c.787G>T (p.Ala263Ser) c.613G>T (p.Ala205Ser) | |
10 | g.119672535C>A | CA378295800 | BAG3 | c.788C>A (p.Ala263Glu) c.614C>A (p.Ala205Glu) | |
10 | g.119672535C= | CA1940193455 | BAG3 | c.788C= (p.Ala263=) c.614C= (p.Ala205=) | |
10 | g.119672535C>G | CA378295801 | BAG3 | c.788C>G (p.Ala263Gly) c.614C>G (p.Ala205Gly) | gnomAD v4 |
10 | g.119672535C>T | CA16605990 | BAG3 | c.788C>T (p.Ala263Val) c.614C>T (p.Ala205Val) | ClinVar dbSNP gnomAD v4 |
10 | g.119672536A>C | CA471740146 | BAG3 | c.789A>C (p.Ala263=) c.615A>C (p.Ala205=) | |
10 | g.119672536A>G | CA471740148 | BAG3 | c.789A>G (p.Ala263=) c.615A>G (p.Ala205=) | |
10 | g.119672536A>T | CA471740144 | BAG3 | c.789A>T (p.Ala263=) c.615A>T (p.Ala205=) | ClinVar dbSNP gnomAD v4 |
10 | g.119672537T>A | CA378295802 | BAG3 | c.790T>A (p.Ser264Thr) c.616T>A (p.Ser206Thr) | |
10 | g.119672537T>C | CA378295803 | BAG3 | c.790T>C (p.Ser264Pro) c.616T>C (p.Ser206Pro) | |
10 | g.119672537T>G | CA378295804 | BAG3 | c.790T>G (p.Ser264Ala) c.616T>G (p.Ser206Ala) | |
10 | g.119672538C>A | CA378295807 | BAG3 | c.791C>A (p.Ser264Tyr) c.617C>A (p.Ser206Tyr) | |
10 | g.119672538C>G | CA378295805 | BAG3 | c.791C>G (p.Ser264Cys) c.617C>G (p.Ser206Cys) | |
10 | g.119672538C>T | CA378295806 | BAG3 | c.791C>T (p.Ser264Phe) c.617C>T (p.Ser206Phe) | |
10 | g.119672539C>A | CA471740154 | BAG3 | c.792C>A (p.Ser264=) c.618C>A (p.Ser206=) | |
10 | g.119672539C= | CA1940193456 | BAG3 | c.792C= (p.Ser264=) c.618C= (p.Ser206=) | |
10 | g.119672539C>G | CA471740156 | BAG3 | c.792C>G (p.Ser264=) c.618C>G (p.Ser206=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672539C>T | CA471740157 | BAG3 | c.792C>T (p.Ser264=) c.618C>T (p.Ser206=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672540C>A | CA378295808 | BAG3 | c.793C>A (p.Pro265Thr) c.619C>A (p.Pro207Thr) | |
10 | g.119672540C>G | CA378295809 | BAG3 | c.793C>G (p.Pro265Ala) c.619C>G (p.Pro207Ala) | |
10 | g.119672540C>T | CA378295810 | BAG3 | c.793C>T (p.Pro265Ser) c.619C>T (p.Pro207Ser) | |
10 | g.119672541C>A | CA378295811 | BAG3 | c.794C>A (p.Pro265Gln) c.620C>A (p.Pro207Gln) | |
10 | g.119672541C= | CA1940193457 | BAG3 | c.794C= (p.Pro265=) c.620C= (p.Pro207=) | |
10 | g.119672541C>G | CA378295812 | BAG3 | c.794C>G (p.Pro265Arg) c.620C>G (p.Pro207Arg) | |
10 | g.119672541C>T | CA5716413 | BAG3 | c.794C>T (p.Pro265Leu) c.620C>T (p.Pro207Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672542G>A | CA5716414 | BAG3 | c.795G>A (p.Pro265=) c.621G>A (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672542G>C | CA471740160 | BAG3 | c.795G>C (p.Pro265=) c.621G>C (p.Pro207=) | |
10 | g.119672542G= | CA1940193458 | BAG3 | c.795G= (p.Pro265=) c.621G= (p.Pro207=) | |
10 | g.119672542G>T | CA471740162 | BAG3 | c.795G>T (p.Pro265=) c.621G>T (p.Pro207=) | |
10 | g.119672543T>A | CA378295813 | BAG3 | c.796T>A (p.Phe266Ile) c.622T>A (p.Phe208Ile) | |
10 | g.119672543T>C | CA378295814 | BAG3 | c.796T>C (p.Phe266Leu) c.622T>C (p.Phe208Leu) | |
10 | g.119672543T>G | CA378295815 | BAG3 | c.796T>G (p.Phe266Val) c.622T>G (p.Phe208Val) | |
10 | g.119672544T>A | CA378295816 | BAG3 | c.797T>A (p.Phe266Tyr) c.623T>A (p.Phe208Tyr) | |
10 | g.119672544T>C | CA378295817 | BAG3 | c.797T>C (p.Phe266Ser) c.623T>C (p.Phe208Ser) | |
10 | g.119672544T>G | CA378295818 | BAG3 | c.797T>G (p.Phe266Cys) c.623T>G (p.Phe208Cys) | |
10 | g.119672545C>A | CA378295820 | BAG3 | c.798C>A (p.Phe266Leu) c.624C>A (p.Phe208Leu) | |
10 | g.119672545C>G | CA378295819 | BAG3 | c.798C>G (p.Phe266Leu) c.624C>G (p.Phe208Leu) | gnomAD v4 |
10 | g.119672545C>T | CA471740165 | BAG3 | c.798C>T (p.Phe266=) c.624C>T (p.Phe208=) | ClinVar |
10 | g.119672546A>C | CA471740166 | BAG3 | c.799A>C (p.Arg267=) c.625A>C (p.Arg209=) | |
10 | g.119672546A>G | CA378295821 | BAG3 | c.799A>G (p.Arg267Gly) c.625A>G (p.Arg209Gly) | |
10 | g.119672546A>T | CA378295822 | BAG3 | c.799A>T (p.Arg267Trp) c.625A>T (p.Arg209Trp) | |
10 | g.119672547G>A | CA378295823 | BAG3 | c.800G>A (p.Arg267Lys) c.626G>A (p.Arg209Lys) | |
10 | g.119672547G>C | CA378295825 | BAG3 | c.800G>C (p.Arg267Thr) c.626G>C (p.Arg209Thr) | |
10 | g.119672547G>T | CA378295824 | BAG3 | c.800G>T (p.Arg267Met) c.626G>T (p.Arg209Met) | |
10 | g.119672548G>A | CA471740170 | BAG3 | c.801G>A (p.Arg267=) c.627G>A (p.Arg209=) | |
10 | g.119672548G>C | CA378295826 | BAG3 | c.801G>C (p.Arg267Ser) c.627G>C (p.Arg209Ser) | |
10 | g.119672548G>T | CA378295827 | BAG3 | c.801G>T (p.Arg267Ser) c.627G>T (p.Arg209Ser) | ClinVar dbSNP |
10 | g.119672548_119672549insCC | CA2506671054 | BAG3 | c.801_802insCC (p.Ser268ProfsTer?) c.627_628insCC (p.Ser210ProfsTer?) | |
10 | g.119672549T>A | CA378295828 | BAG3 | c.802T>A (p.Ser268Thr) c.628T>A (p.Ser210Thr) | |
10 | g.119672549T>C | CA5716415 | BAG3 | c.802T>C (p.Ser268Pro) c.628T>C (p.Ser210Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672549T>G | CA378295829 | BAG3 | c.802T>G (p.Ser268Ala) c.628T>G (p.Ser210Ala) | |
10 | g.119672549T= | CA1940193459 | BAG3 | c.802T= (p.Ser268=) c.628T= (p.Ser210=) |