Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
11 | g.47346135_47346208del | CA2613392479 | MYBPC3 | c.1090+13_1090+86del c.1072+13_1072+86del | gnomAD v4 |
11 | g.47346208T>A | CA474220743 | MYBPC3 | c.1089A>T (p.Thr363=) c.1071A>T (p.Thr357=) | |
11 | g.47346208T>C | CA474220742 | MYBPC3 | c.1089A>G (p.Thr363=) c.1071A>G (p.Thr357=) | gnomAD v4 |
11 | g.47346208T>G | CA474220741 | MYBPC3 | c.1089A>C (p.Thr363=) c.1071A>C (p.Thr357=) | |
11 | g.47346209G>A | CA380330877 | MYBPC3 | c.1088C>T (p.Thr363Ile) c.1070C>T (p.Thr357Ile) | |
11 | g.47346209G>C | CA380330881 | MYBPC3 | c.1088C>G (p.Thr363Arg) c.1070C>G (p.Thr357Arg) | |
11 | g.47346209G>T | CA380330887 | MYBPC3 | c.1088C>A (p.Thr363Lys) c.1070C>A (p.Thr357Lys) | |
11 | g.47346210T>A | CA380330892 | MYBPC3 | c.1087A>T (p.Thr363Ser) c.1069A>T (p.Thr357Ser) | |
11 | g.47346210T>C | CA380330894 | MYBPC3 | c.1087A>G (p.Thr363Ala) c.1069A>G (p.Thr357Ala) | COSMIC COSMIC |
11 | g.47346210T>G | CA380330895 | MYBPC3 | c.1087A>C (p.Thr363Pro) c.1069A>C (p.Thr357Pro) | |
11 | g.47346211G>A | CA474220747 | MYBPC3 | c.1086C>T (p.Ser362=) c.1068C>T (p.Ser356=) | ClinVar |
11 | g.47346211G>C | CA380330896 | MYBPC3 | c.1086C>G (p.Ser362Arg) c.1068C>G (p.Ser356Arg) | |
11 | g.47346211G>T | CA380330897 | MYBPC3 | c.1086C>A (p.Ser362Arg) c.1068C>A (p.Ser356Arg) | COSMIC |
11 | g.47346212C>A | CA380330900 | MYBPC3 | c.1085G>T (p.Ser362Ile) c.1067G>T (p.Ser356Ile) | |
11 | g.47346212C= | CA1969339418 | MYBPC3 | c.1085G= (p.Ser362=) c.1067G= (p.Ser356=) | |
11 | g.47346212C>G | CA380330903 | MYBPC3 | c.1085G>C (p.Ser362Thr) c.1067G>C (p.Ser356Thr) | gnomAD v4 |
11 | g.47346212C>T | CA380330913 | MYBPC3 | c.1085G>A (p.Ser362Asn) c.1067G>A (p.Ser356Asn) | gnomAD v4 |
11 | g.47346212_47346215delinsCTCT | CA1969339419 | MYBPC3 | c.1082_1085delinsAGAG (p.Lys361=) c.1064_1067delinsAGAG (p.Lys355=) | |
11 | g.47346213T>A | CA380330930 | MYBPC3 | c.1084A>T (p.Ser362Cys) c.1066A>T (p.Ser356Cys) | |
11 | g.47346213T>C | CA009745 | MYBPC3 | c.1084A>G (p.Ser362Gly) c.1066A>G (p.Ser356Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346213T>G | CA380330923 | MYBPC3 | c.1084A>C (p.Ser362Arg) c.1066A>C (p.Ser356Arg) | ClinVar dbSNP |
11 | g.47346213T= | CA1969339420 | MYBPC3 | c.1084A= (p.Ser362=) c.1066A= (p.Ser356=) | |
11 | g.47346213dup | CA296499 | MYBPC3 | c.1084dup (p.Ser362LysfsTer28) c.1066dup (p.Ser356LysfsTer28) | ClinVar dbSNP |
11 | g.47346219_47346221del | CA042311 | MYBPC3 | c.1082_1084del (p.Lys361del) c.1064_1066del (p.Lys355del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346214C>A | CA380330936 | MYBPC3 | c.1083G>T (p.Lys361Asn) c.1065G>T (p.Lys355Asn) | |
11 | g.47346214C= | CA1969339421 | MYBPC3 | c.1083G= (p.Lys361=) c.1065G= (p.Lys355=) | |
11 | g.47346214C>G | CA380330939 | MYBPC3 | c.1083G>C (p.Lys361Asn) c.1065G>C (p.Lys355Asn) | |
11 | g.47346214C>T | CA221700782 | MYBPC3 | c.1083G>A (p.Lys361=) c.1065G>A (p.Lys355=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346215T>A | CA380330942 | MYBPC3 | c.1082A>T (p.Lys361Met) c.1064A>T (p.Lys355Met) | |
11 | g.47346215T>C | CA380330944 | MYBPC3 | c.1082A>G (p.Lys361Arg) c.1064A>G (p.Lys355Arg) | ClinVar dbSNP |
11 | g.47346215T>G | CA380330946 | MYBPC3 | c.1082A>C (p.Lys361Thr) c.1064A>C (p.Lys355Thr) | |
11 | g.47346215T= | CA1969339423 | MYBPC3 | c.1082A= (p.Lys361=) c.1064A= (p.Lys355=) | |
11 | g.47346216T>A | CA380330950 | MYBPC3 | c.1081A>T (p.Lys361Ter) c.1063A>T (p.Lys355Ter) | gnomAD v4 |
11 | g.47346216T>C | CA380330956 | MYBPC3 | c.1081A>G (p.Lys361Glu) c.1063A>G (p.Lys355Glu) | |
11 | g.47346216T>G | CA380330955 | MYBPC3 | c.1081A>C (p.Lys361Gln) c.1063A>C (p.Lys355Gln) | |
11 | g.47346217C>A | CA380330958 | MYBPC3 | c.1080G>T (p.Lys360Asn) c.1062G>T (p.Lys354Asn) | |
11 | g.47346217C= | CA1969339426 | MYBPC3 | c.1080G= (p.Lys360=) c.1062G= (p.Lys354=) | |
11 | g.47346217C>G | CA009741 | MYBPC3 | c.1080G>C (p.Lys360Asn) c.1062G>C (p.Lys354Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346217C>T | CA474220757 | MYBPC3 | c.1080G>A (p.Lys360=) c.1062G>A (p.Lys354=) | |
11 | g.47346218T>A | CA380330963 | MYBPC3 | c.1079A>T (p.Lys360Met) c.1061A>T (p.Lys354Met) | |
11 | g.47346218T>C | CA380330964 | MYBPC3 | c.1079A>G (p.Lys360Arg) c.1061A>G (p.Lys354Arg) | gnomAD v4 |
11 | g.47346218T>G | CA380330969 | MYBPC3 | c.1079A>C (p.Lys360Thr) c.1061A>C (p.Lys354Thr) | |
11 | g.47346219T>A | CA380330972 | MYBPC3 | c.1078A>T (p.Lys360Ter) c.1060A>T (p.Lys354Ter) | |
11 | g.47346219T>C | CA380330974 | MYBPC3 | c.1078A>G (p.Lys360Glu) c.1060A>G (p.Lys354Glu) | ClinVar |
11 | g.47346219T>G | CA380330978 | MYBPC3 | c.1078A>C (p.Lys360Gln) c.1060A>C (p.Lys354Gln) | dbSNP gnomAD v2 |
11 | g.47346219T= | CA1969339427 | MYBPC3 | c.1078A= (p.Lys360=) c.1060A= (p.Lys354=) | |
11 | g.47346219_47346222delinsTCTC | CA1969339428 | MYBPC3 | c.1075_1078delinsGAGA (p.Glu359=) c.1057_1060delinsGAGA (p.Glu353=) | |
11 | g.47346220C>A | CA380330980 | MYBPC3 | c.1077G>T (p.Glu359Asp) c.1059G>T (p.Glu353Asp) | |
11 | g.47346220C>G | CA380330982 | MYBPC3 | c.1077G>C (p.Glu359Asp) c.1059G>C (p.Glu353Asp) | |
11 | g.47346220C>T | CA474220767 | MYBPC3 | c.1077G>A (p.Glu359=) c.1059G>A (p.Glu353=) | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.47346220_47346222del | CA1969339430 | MYBPC3 | c.1075_1077del (p.Glu359del) c.1057_1059del (p.Glu353del) | dbSNP |
11 | g.47346221T>A | CA380330993 | MYBPC3 | c.1076A>T (p.Glu359Val) c.1058A>T (p.Glu353Val) | |
11 | g.47346221T>C | CA380330989 | MYBPC3 | c.1076A>G (p.Glu359Gly) c.1058A>G (p.Glu353Gly) | ClinVar dbSNP |
11 | g.47346221T>G | CA380330988 | MYBPC3 | c.1076A>C (p.Glu359Ala) c.1058A>C (p.Glu353Ala) | |
11 | g.47346221T= | CA1969339432 | MYBPC3 | c.1076A= (p.Glu359=) c.1058A= (p.Glu353=) | |
11 | g.47346222C>A | CA10576892 | MYBPC3 | c.1075G>T (p.Glu359Ter) c.1057G>T (p.Glu353Ter) | ClinVar dbSNP |
11 | g.47346222C= | CA1969339438 | MYBPC3 | c.1075G= (p.Glu359=) c.1057G= (p.Glu353=) | |
11 | g.47346222C>G | CA380330998 | MYBPC3 | c.1075G>C (p.Glu359Gln) c.1057G>C (p.Glu353Gln) | |
11 | g.47346222C>T | CA380331001 | MYBPC3 | c.1075G>A (p.Glu359Lys) c.1057G>A (p.Glu353Lys) | dbSNP gnomAD v4 |
11 | g.47346223A= | CA1969339444 | MYBPC3 | c.1074T= (p.Asp358=) c.1056T= (p.Asp352=) | |
11 | g.47346223A>C | CA380331003 | MYBPC3 | c.1074T>G (p.Asp358Glu) c.1056T>G (p.Asp352Glu) | |
11 | g.47346223A>G | CA474220774 | MYBPC3 | c.1074T>C (p.Asp358=) c.1056T>C (p.Asp352=) | dbSNP gnomAD v2 |
11 | g.47346223A>T | CA042264 | MYBPC3 | c.1074T>A (p.Asp358Glu) c.1056T>A (p.Asp352Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346224T>A | CA380331010 | MYBPC3 | c.1073A>T (p.Asp358Val) c.1055A>T (p.Asp352Val) | |
11 | g.47346224T>C | CA380331007 | MYBPC3 | c.1073A>G (p.Asp358Gly) c.1055A>G (p.Asp352Gly) | |
11 | g.47346224T>G | CA380331005 | MYBPC3 | c.1073A>C (p.Asp358Ala) c.1055A>C (p.Asp352Ala) | COSMIC COSMIC |
11 | g.47346224_47346228delinsTCGCG | CA1969339447 | MYBPC3 | c.1069_1073delinsCGCGA (p.Arg357=) c.1051_1055delinsCGCGA (p.Arg351=) | |
11 | g.47346225C>A | CA380331012 | MYBPC3 | c.1072G>T (p.Asp358Tyr) c.1054G>T (p.Asp352Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346225C= | CA1969339453 | MYBPC3 | c.1072G= (p.Asp358=) c.1054G= (p.Asp352=) | |
11 | g.47346225C>G | CA380331014 | MYBPC3 | c.1072G>C (p.Asp358His) c.1054G>C (p.Asp352His) | |
11 | g.47346225C>T | CA042250 | MYBPC3 | c.1072G>A (p.Asp358Asn) c.1054G>A (p.Asp352Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346225_47346228delinsGC | CA009733 | MYBPC3 | c.1069_1072delinsGC (p.Arg357AlafsTer2) c.1051_1054delinsGC (p.Arg351AlafsTer2) | ClinVar dbSNP |
11 | g.47346226G>A | CA042236 | MYBPC3 | c.1071C>T (p.Arg357=) c.1053C>T (p.Arg351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346226G>C | CA474220780 | MYBPC3 | c.1071C>G (p.Arg357=) c.1053C>G (p.Arg351=) | dbSNP |
11 | g.47346226G= | CA1969339459 | MYBPC3 | c.1071C= (p.Arg357=) c.1053C= (p.Arg351=) | |
11 | g.47346226G>T | CA042214 | MYBPC3 | c.1071C>A (p.Arg357=) c.1053C>A (p.Arg351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346227C>A | CA380331033 | MYBPC3 | c.1070G>T (p.Arg357Leu) c.1052G>T (p.Arg351Leu) | |
11 | g.47346227C= | CA1969339465 | MYBPC3 | c.1070G= (p.Arg357=) c.1052G= (p.Arg351=) | |
11 | g.47346227C>G | CA380331029 | MYBPC3 | c.1070G>C (p.Arg357Pro) c.1052G>C (p.Arg351Pro) | |
11 | g.47346227C>T | CA009737 | MYBPC3 | c.1070G>A (p.Arg357His) c.1052G>A (p.Arg351His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346228G>A | CA380331037 | MYBPC3 | c.1069C>T (p.Arg357Cys) c.1051C>T (p.Arg351Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47346228G>C | CA380331038 | MYBPC3 | c.1069C>G (p.Arg357Gly) c.1051C>G (p.Arg351Gly) | |
11 | g.47346228G= | CA1969339469 | MYBPC3 | c.1069C= (p.Arg357=) c.1051C= (p.Arg351=) | |
11 | g.47346228G>T | CA380331039 | MYBPC3 | c.1069C>A (p.Arg357Ser) c.1051C>A (p.Arg351Ser) | |
11 | g.47346229C>A | CA380331040 | MYBPC3 | c.1068G>T (p.Arg356Ser) c.1050G>T (p.Arg350Ser) | |
11 | g.47346229C= | CA1969339471 | MYBPC3 | c.1068G= (p.Arg356=) c.1050G= (p.Arg350=) | |
11 | g.47346229C>G | CA380331041 | MYBPC3 | c.1068G>C (p.Arg356Ser) c.1050G>C (p.Arg350Ser) | |
11 | g.47346229C>T | CA474220786 | MYBPC3 | c.1068G>A (p.Arg356=) c.1050G>A (p.Arg350=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346230C>A | CA380331043 | MYBPC3 | c.1067G>T (p.Arg356Met) c.1049G>T (p.Arg350Met) | dbSNP COSMIC COSMIC |
11 | g.47346230C= | CA1969339475 | MYBPC3 | c.1067G= (p.Arg356=) c.1049G= (p.Arg350=) | |
11 | g.47346230C>G | CA380331045 | MYBPC3 | c.1067G>C (p.Arg356Thr) c.1049G>C (p.Arg350Thr) | |
11 | g.47346230C>T | CA380331053 | MYBPC3 | c.1067G>A (p.Arg356Lys) c.1049G>A (p.Arg350Lys) | dbSNP |
11 | g.47346231T>A | CA380331056 | MYBPC3 | c.1066A>T (p.Arg356Trp) c.1048A>T (p.Arg350Trp) | |
11 | g.47346231T>C | CA380331060 | MYBPC3 | c.1066A>G (p.Arg356Gly) c.1048A>G (p.Arg350Gly) | |
11 | g.47346231T>G | CA474220790 | MYBPC3 | c.1066A>C (p.Arg356=) c.1048A>C (p.Arg350=) | |
11 | g.47346232C>A | CA380331068 | MYBPC3 | c.1065G>T (p.Met355Ile) c.1047G>T (p.Met349Ile) | |
11 | g.47346232C>G | CA380331071 | MYBPC3 | c.1065G>C (p.Met355Ile) c.1047G>C (p.Met349Ile) | |
11 | g.47346232C>T | CA380331072 | MYBPC3 | c.1065G>A (p.Met355Ile) c.1047G>A (p.Met349Ile) | |
11 | g.47346233A>C | CA380331075 | MYBPC3 | c.1064T>G (p.Met355Arg) c.1046T>G (p.Met349Arg) | |
11 | g.47346233A>G | CA380331080 | MYBPC3 | c.1064T>C (p.Met355Thr) c.1046T>C (p.Met349Thr) | |
11 | g.47346233A>T | CA380331077 | MYBPC3 | c.1064T>A (p.Met355Lys) c.1046T>A (p.Met349Lys) | |
11 | g.47346234T>A | CA380331083 | MYBPC3 | c.1063A>T (p.Met355Leu) c.1045A>T (p.Met349Leu) | |
11 | g.47346234T>C | CA380331085 | MYBPC3 | c.1063A>G (p.Met355Val) c.1045A>G (p.Met349Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47346234T>G | CA380331086 | MYBPC3 | c.1063A>C (p.Met355Leu) c.1045A>C (p.Met349Leu) | |
11 | g.47346234T= | CA1969339481 | MYBPC3 | c.1063A= (p.Met355=) c.1045A= (p.Met349=) | |
11 | g.47346235G>A | CA474220796 | MYBPC3 | c.1062C>T (p.Gly354=) c.1044C>T (p.Gly348=) | dbSNP |
11 | g.47346235G>C | CA474220797 | MYBPC3 | c.1062C>G (p.Gly354=) c.1044C>G (p.Gly348=) | |
11 | g.47346235G= | CA1969339484 | MYBPC3 | c.1062C= (p.Gly354=) c.1044C= (p.Gly348=) | |
11 | g.47346235G>T | CA474220795 | MYBPC3 | c.1062C>A (p.Gly354=) c.1044C>A (p.Gly348=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346236C>A | CA380331089 | MYBPC3 | c.1061G>T (p.Gly354Val) c.1043G>T (p.Gly348Val) | ClinVar |
11 | g.47346236C= | CA1969339488 | MYBPC3 | c.1061G= (p.Gly354=) c.1043G= (p.Gly348=) | |
11 | g.47346236C>G | CA380331091 | MYBPC3 | c.1061G>C (p.Gly354Ala) c.1043G>C (p.Gly348Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346236C>T | CA380331093 | MYBPC3 | c.1061G>A (p.Gly354Asp) c.1043G>A (p.Gly348Asp) | |
11 | g.47346237C>A | CA380331105 | MYBPC3 | c.1060G>T (p.Gly354Cys) c.1042G>T (p.Gly348Cys) | |
11 | g.47346237C= | CA1969339490 | MYBPC3 | c.1060G= (p.Gly354=) c.1042G= (p.Gly348=) | |
11 | g.47346237C>G | CA380331095 | MYBPC3 | c.1060G>C (p.Gly354Arg) c.1042G>C (p.Gly348Arg) | |
11 | g.47346237C>T | CA380331103 | MYBPC3 | c.1060G>A (p.Gly354Ser) c.1042G>A (p.Gly348Ser) | dbSNP gnomAD v4 |
11 | g.47346238C>A | CA380331109 | MYBPC3 | c.1059G>T (p.Lys353Asn) c.1041G>T (p.Lys347Asn) | |
11 | g.47346238C>G | CA380331111 | MYBPC3 | c.1059G>C (p.Lys353Asn) c.1041G>C (p.Lys347Asn) | |
11 | g.47346238C>T | CA474220800 | MYBPC3 | c.1059G>A (p.Lys353=) c.1041G>A (p.Lys347=) | |
11 | g.47346239T>A | CA380331113 | MYBPC3 | c.1058A>T (p.Lys353Met) c.1040A>T (p.Lys347Met) | |
11 | g.47346239T>C | CA380331115 | MYBPC3 | c.1058A>G (p.Lys353Arg) c.1040A>G (p.Lys347Arg) | |
11 | g.47346239T>G | CA380331119 | MYBPC3 | c.1058A>C (p.Lys353Thr) c.1040A>C (p.Lys347Thr) | |
11 | g.47346240del | CA2580084165 | MYBPC3 | c.1058del (p.Lys353ArgfsTer3) c.1040del (p.Lys347ArgfsTer3) | ClinVar |
11 | g.47346240T>A | CA380331122 | MYBPC3 | c.1057A>T (p.Lys353Ter) c.1039A>T (p.Lys347Ter) | |
11 | g.47346240T>C | CA380331129 | MYBPC3 | c.1057A>G (p.Lys353Glu) c.1039A>G (p.Lys347Glu) | |
11 | g.47346240T>G | CA380331126 | MYBPC3 | c.1057A>C (p.Lys353Gln) c.1039A>C (p.Lys347Gln) | |
11 | g.47346241G>A | CA474220808 | MYBPC3 | c.1056C>T (p.Leu352=) c.1038C>T (p.Leu346=) | |
11 | g.47346241G>C | CA042179 | MYBPC3 | c.1056C>G (p.Leu352=) c.1038C>G (p.Leu346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346241G= | CA1969339495 | MYBPC3 | c.1056C= (p.Leu352=) c.1038C= (p.Leu346=) | |
11 | g.47346241G>T | CA474220805 | MYBPC3 | c.1056C>A (p.Leu352=) c.1038C>A (p.Leu346=) | |
11 | g.47346242A= | CA1969339500 | MYBPC3 | c.1055T= (p.Leu352=) c.1037T= (p.Leu346=) | |
11 | g.47346242A>C | CA380331135 | MYBPC3 | c.1055T>G (p.Leu352Arg) c.1037T>G (p.Leu346Arg) | |
11 | g.47346242A>G | CA380331137 | MYBPC3 | c.1055T>C (p.Leu352Pro) c.1037T>C (p.Leu346Pro) | ClinVar dbSNP |
11 | g.47346242A>T | CA380331140 | MYBPC3 | c.1055T>A (p.Leu352His) c.1037T>A (p.Leu346His) | |
11 | g.47346242_47346313delinsAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT | CA1969339501 | MYBPC3 | c.984_1055delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala328=) c.966_1037delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala322=) | |
11 | g.47346243G>A | CA380331142 | MYBPC3 | c.1054C>T (p.Leu352Phe) c.1036C>T (p.Leu346Phe) | |
11 | g.47346243G>C | CA380331144 | MYBPC3 | c.1054C>G (p.Leu352Val) c.1036C>G (p.Leu346Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47346243G= | CA1969339505 | MYBPC3 | c.1054C= (p.Leu352=) c.1036C= (p.Leu346=) | |
11 | g.47346243G>T | CA380331146 | MYBPC3 | c.1054C>A (p.Leu352Ile) c.1036C>A (p.Leu346Ile) | |
11 | g.47346243_47346244delinsAA | CA2695213926 | MYBPC3 | c.1053_1054delinsTT (p.Arg351_Leu352delinsSerPhe) c.1035_1036delinsTT (p.Arg345_Leu346delinsSerPhe) | |
11 | g.47346247_47346317del | CA016227 | MYBPC3 | c.984_1054del (p.Pro329GlnfsTer7) c.966_1036del (p.Pro323GlnfsTer7) | ClinVar dbSNP |
11 | g.47346243_47346244insAA | CA2573051161 | MYBPC3 | c.1053_1054insTT (p.Leu352PhefsTer5) c.1035_1036insTT (p.Leu346PhefsTer5) | |
11 | g.47346244C>A | CA380331156 | MYBPC3 | c.1053G>T (p.Arg351Ser) c.1035G>T (p.Arg345Ser) | |
11 | g.47346244C= | CA1969339508 | MYBPC3 | c.1053G= (p.Arg351=) c.1035G= (p.Arg345=) | |
11 | g.47346244C>G | CA380331159 | MYBPC3 | c.1053G>C (p.Arg351Ser) c.1035G>C (p.Arg345Ser) | ClinVar |
11 | g.47346244C>T | CA474220811 | MYBPC3 | c.1053G>A (p.Arg351=) c.1035G>A (p.Arg345=) | ClinVar |
11 | g.47346245C>A | CA380331162 | MYBPC3 | c.1052G>T (p.Arg351Met) c.1034G>T (p.Arg345Met) | |
11 | g.47346245C>G | CA380331165 | MYBPC3 | c.1052G>C (p.Arg351Thr) c.1034G>C (p.Arg345Thr) | |
11 | g.47346245C>T | CA380331163 | MYBPC3 | c.1052G>A (p.Arg351Lys) c.1034G>A (p.Arg345Lys) | gnomAD v4 |
11 | g.47346246T>A | CA380331168 | MYBPC3 | c.1051A>T (p.Arg351Trp) c.1033A>T (p.Arg345Trp) | gnomAD v4 |
11 | g.47346246T>C | CA380331170 | MYBPC3 | c.1051A>G (p.Arg351Gly) c.1033A>G (p.Arg345Gly) | ClinVar |
11 | g.47346246T>G | CA474220816 | MYBPC3 | c.1051A>C (p.Arg351=) c.1033A>C (p.Arg345=) | |
11 | g.47346247C>A | CA380331173 | MYBPC3 | c.1050G>T (p.Lys350Asn) c.1032G>T (p.Lys344Asn) | |
11 | g.47346247C= | CA1969339512 | MYBPC3 | c.1050G= (p.Lys350=) c.1032G= (p.Lys344=) | |
11 | g.47346247C>G | CA380331179 | MYBPC3 | c.1050G>C (p.Lys350Asn) c.1032G>C (p.Lys344Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346247C>T | CA474220817 | MYBPC3 | c.1050G>A (p.Lys350=) c.1032G>A (p.Lys344=) | COSMIC COSMIC |
11 | g.47346248T>A | CA380331181 | MYBPC3 | c.1049A>T (p.Lys350Met) c.1031A>T (p.Lys344Met) | gnomAD v4 |
11 | g.47346248T>C | CA380331185 | MYBPC3 | c.1049A>G (p.Lys350Arg) c.1031A>G (p.Lys344Arg) | |
11 | g.47346248T>G | CA380331186 | MYBPC3 | c.1049A>C (p.Lys350Thr) c.1031A>C (p.Lys344Thr) | |
11 | g.47346250del | CA2580084166 | MYBPC3 | c.1049del (p.Lys350ArgfsTer6) c.1031del (p.Lys344ArgfsTer6) | ClinVar |
11 | g.47346249_47346250del | CA2499220980 | MYBPC3 | c.1048_1049del (p.Lys350GlufsTer9) c.1030_1031del (p.Lys344GlufsTer9) | ClinVar dbSNP |
11 | g.47346249T>A | CA380331190 | MYBPC3 | c.1048A>T (p.Lys350Ter) c.1030A>T (p.Lys344Ter) | gnomAD v4 |
11 | g.47346249T>C | CA380331191 | MYBPC3 | c.1048A>G (p.Lys350Glu) c.1030A>G (p.Lys344Glu) | |
11 | g.47346249T>G | CA380331192 | MYBPC3 | c.1048A>C (p.Lys350Gln) c.1030A>C (p.Lys344Gln) | |
11 | g.47346250T>A | CA474220822 | MYBPC3 | c.1047A>T (p.Leu349=) c.1029A>T (p.Leu343=) | |
11 | g.47346250T>C | CA474220823 | MYBPC3 | c.1047A>G (p.Leu349=) c.1029A>G (p.Leu343=) | gnomAD v4 |
11 | g.47346250T>G | CA474220824 | MYBPC3 | c.1047A>C (p.Leu349=) c.1029A>C (p.Leu343=) | |
11 | g.47346251A= | CA1969339517 | MYBPC3 | c.1046T= (p.Leu349=) c.1028T= (p.Leu343=) | |
11 | g.47346251A>C | CA380331193 | MYBPC3 | c.1046T>G (p.Leu349Arg) c.1028T>G (p.Leu343Arg) | |
11 | g.47346251A>G | CA380331195 | MYBPC3 | c.1046T>C (p.Leu349Pro) c.1028T>C (p.Leu343Pro) | dbSNP |
11 | g.47346251A>T | CA380331197 | MYBPC3 | c.1046T>A (p.Leu349Gln) c.1028T>A (p.Leu343Gln) | |
11 | g.47346252G>A | CA474220826 | MYBPC3 | c.1045C>T (p.Leu349=) c.1027C>T (p.Leu343=) | |
11 | g.47346252G>C | CA380331198 | MYBPC3 | c.1045C>G (p.Leu349Val) c.1027C>G (p.Leu343Val) | |
11 | g.47346252G>T | CA380331199 | MYBPC3 | c.1045C>A (p.Leu349Ile) c.1027C>A (p.Leu343Ile) | |
11 | g.47346253C>A | CA380331200 | MYBPC3 | c.1044G>T (p.Met348Ile) c.1026G>T (p.Met342Ile) | |
11 | g.47346253C>G | CA380331202 | MYBPC3 | c.1044G>C (p.Met348Ile) c.1026G>C (p.Met342Ile) | |
11 | g.47346253C>T | CA380331204 | MYBPC3 | c.1044G>A (p.Met348Ile) c.1026G>A (p.Met342Ile) | |
11 | g.47346254A= | CA1969339518 | MYBPC3 | c.1043T= (p.Met348=) c.1025T= (p.Met342=) | |
11 | g.47346254A>C | CA380331209 | MYBPC3 | c.1043T>G (p.Met348Arg) c.1025T>G (p.Met342Arg) | |
11 | g.47346254A>G | CA380331208 | MYBPC3 | c.1043T>C (p.Met348Thr) c.1025T>C (p.Met342Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47346254A>T | CA380331207 | MYBPC3 | c.1043T>A (p.Met348Lys) c.1025T>A (p.Met342Lys) | |
11 | g.47346255T>A | CA380331213 | MYBPC3 | c.1042A>T (p.Met348Leu) c.1024A>T (p.Met342Leu) | |
11 | g.47346255T>C | CA380331217 | MYBPC3 | c.1042A>G (p.Met348Val) c.1024A>G (p.Met342Val) | |
11 | g.47346255T>G | CA380331220 | MYBPC3 | c.1042A>C (p.Met348Leu) c.1024A>C (p.Met342Leu) | |
11 | g.47346255_47346259dup | CA273429 | MYBPC3 | c.1038_1042dup (p.Met348ThrfsTer4) c.1020_1024dup (p.Met342ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.47346256G>A | CA474220832 | MYBPC3 | c.1041C>T (p.Gly347=) c.1023C>T (p.Gly341=) | |
11 | g.47346256G>C | CA474220835 | MYBPC3 | c.1041C>G (p.Gly347=) c.1023C>G (p.Gly341=) | |
11 | g.47346256G>T | CA474220834 | MYBPC3 | c.1041C>A (p.Gly347=) c.1023C>A (p.Gly341=) | |
11 | g.47346257C>A | CA380331226 | MYBPC3 | c.1040G>T (p.Gly347Val) c.1022G>T (p.Gly341Val) | ClinVar dbSNP |
11 | g.47346257C= | CA1969339526 | MYBPC3 | c.1040G= (p.Gly347=) c.1022G= (p.Gly341=) | |
11 | g.47346257C>G | CA380331232 | MYBPC3 | c.1040G>C (p.Gly347Ala) c.1022G>C (p.Gly341Ala) | |
11 | g.47346257C>T | CA380331234 | MYBPC3 | c.1040G>A (p.Gly347Asp) c.1022G>A (p.Gly341Asp) | ClinVar dbSNP |
11 | g.47346258C>A | CA380331236 | MYBPC3 | c.1039G>T (p.Gly347Cys) c.1021G>T (p.Gly341Cys) | gnomAD v4 |
11 | g.47346258C= | CA1969339530 | MYBPC3 | c.1039G= (p.Gly347=) c.1021G= (p.Gly341=) | |
11 | g.47346258C>G | CA380331238 | MYBPC3 | c.1039G>C (p.Gly347Arg) c.1021G>C (p.Gly341Arg) | ClinVar dbSNP |
11 | g.47346258C>T | CA009719 | MYBPC3 | c.1039G>A (p.Gly347Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346258_47346259insTGCCG | CA2739291479 | MYBPC3 | c.1038_1039insCGGCA (p.Gly347ArgfsTer5) c.1020_1021insCGGCA (p.Gly341ArgfsTer5) | |
11 | g.47346259G>A | CA042114 | MYBPC3 | c.1038C>T (p.Arg346=) c.1020C>T (p.Arg340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346259G>C | CA474220842 | MYBPC3 | c.1038C>G (p.Arg346=) c.1020C>G (p.Arg340=) | |
11 | g.47346259G= | CA1969339535 | MYBPC3 | c.1038C= (p.Arg346=) c.1020C= (p.Arg340=) | |
11 | g.47346259G>T | CA474220843 | MYBPC3 | c.1038C>A (p.Arg346=) c.1020C>A (p.Arg340=) | |
11 | g.47346259dup | CA2842057527 | MYBPC3 | c.1038dup (p.Gly347ArgfsTer13) c.1020dup (p.Gly341ArgfsTer13) | |
11 | g.47346260C>A | CA380331244 | MYBPC3 | c.1037G>T (p.Arg346Leu) c.1019G>T (p.Arg340Leu) | |
11 | g.47346260C= | CA1969339539 | MYBPC3 | c.1037G= (p.Arg346=) c.1019G= (p.Arg340=) | |
11 | g.47346260C>G | CA380331248 | MYBPC3 | c.1037G>C (p.Arg346Pro) c.1019G>C (p.Arg340Pro) | |
11 | g.47346260C>T | CA009714 | MYBPC3 | c.1037G>A (p.Arg346His) c.1019G>A (p.Arg340His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47346261G>A | CA380331260 | MYBPC3 | c.1036C>T (p.Arg346Cys) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47346261G>C | CA380331264 | MYBPC3 | c.1036C>G (p.Arg346Gly) c.1018C>G (p.Arg340Gly) | ClinVar dbSNP |
11 | g.47346261G= | CA1969339543 | MYBPC3 | c.1036C= (p.Arg346=) c.1018C= (p.Arg340=) | |
11 | g.47346261G>T | CA380331255 | MYBPC3 | c.1036C>A (p.Arg346Ser) c.1018C>A (p.Arg340Ser) | ClinVar dbSNP |
11 | g.47346262C>A | CA474220846 | MYBPC3 | c.1035G>T (p.Leu345=) c.1017G>T (p.Leu339=) | |
11 | g.47346262C= | CA1969339548 | MYBPC3 | c.1035G= (p.Leu345=) c.1017G= (p.Leu339=) | |
11 | g.47346262C>G | CA474220848 | MYBPC3 | c.1035G>C (p.Leu345=) c.1017G>C (p.Leu339=) | |
11 | g.47346262C>T | CA042085 | MYBPC3 | c.1035G>A (p.Leu345=) c.1017G>A (p.Leu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346263A= | CA1969339551 | MYBPC3 | c.1034T= (p.Leu345=) c.1016T= (p.Leu339=) | |
11 | g.47346263A>C | CA380331267 | MYBPC3 | c.1034T>G (p.Leu345Arg) c.1016T>G (p.Leu339Arg) | |
11 | g.47346263A>G | CA380331268 | MYBPC3 | c.1034T>C (p.Leu345Pro) c.1016T>C (p.Leu339Pro) | ClinVar dbSNP |
11 | g.47346263A>T | CA380331269 | MYBPC3 | c.1034T>A (p.Leu345Gln) c.1016T>A (p.Leu339Gln) | |
11 | g.47346264G>A | CA474220850 | MYBPC3 | c.1033C>T (p.Leu345=) c.1015C>T (p.Leu339=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346264G>C | CA380331270 | MYBPC3 | c.1033C>G (p.Leu345Val) c.1015C>G (p.Leu339Val) | ClinVar |
11 | g.47346264G= | CA1969339554 | MYBPC3 | c.1033C= (p.Leu345=) c.1015C= (p.Leu339=) | |
11 | g.47346264G>T | CA380331271 | MYBPC3 | c.1033C>A (p.Leu345Met) c.1015C>A (p.Leu339Met) | |
11 | g.47346264_47346268delinsGGTCA | CA1969339556 | MYBPC3 | c.1029_1033delinsTGACC (p.Thr343=) c.1011_1015delinsTGACC (p.Thr337=) | |
11 | g.47346265G>A | CA474220851 | MYBPC3 | c.1032C>T (p.Asp344=) c.1014C>T (p.Asp338=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346265G>C | CA380331273 | MYBPC3 | c.1032C>G (p.Asp344Glu) c.1014C>G (p.Asp338Glu) | |
11 | g.47346265G= | CA1969339560 | MYBPC3 | c.1032C= (p.Asp344=) c.1014C= (p.Asp338=) | |
11 | g.47346265G>T | CA380331272 | MYBPC3 | c.1032C>A (p.Asp344Glu) c.1014C>A (p.Asp338Glu) | ClinVar dbSNP |
11 | g.47346267_47346270del | CA915948162 | MYBPC3 | c.1029_1032del (p.Asp344CysfsTer5) c.1011_1014del (p.Asp338CysfsTer5) | ClinVar dbSNP |
11 | g.47346266T>A | CA380331274 | MYBPC3 | c.1031A>T (p.Asp344Val) c.1013A>T (p.Asp338Val) | |
11 | g.47346266T>C | CA380331275 | MYBPC3 | c.1031A>G (p.Asp344Gly) c.1013A>G (p.Asp338Gly) | ClinVar dbSNP |
11 | g.47346266T>G | CA380331276 | MYBPC3 | c.1031A>C (p.Asp344Ala) c.1013A>C (p.Asp338Ala) | |
11 | g.47346266T= | CA1969339565 | MYBPC3 | c.1031A= (p.Asp344=) c.1013A= (p.Asp338=) | |
11 | g.47346267C>A | CA380331278 | MYBPC3 | c.1030G>T (p.Asp344Tyr) c.1012G>T (p.Asp338Tyr) | |
11 | g.47346267C= | CA1969339567 | MYBPC3 | c.1030G= (p.Asp344=) c.1012G= (p.Asp338=) | |
11 | g.47346267C>G | CA380331279 | MYBPC3 | c.1030G>C (p.Asp344His) c.1012G>C (p.Asp338His) | dbSNP gnomAD v4 |
11 | g.47346267C>T | CA380331284 | MYBPC3 | c.1030G>A (p.Asp344Asn) c.1012G>A (p.Asp338Asn) | gnomAD v4 |
11 | g.47346268A>C | CA474220858 | MYBPC3 | c.1029T>G (p.Thr343=) c.1011T>G (p.Thr337=) | |
11 | g.47346268A>G | CA474220860 | MYBPC3 | c.1029T>C (p.Thr343=) c.1011T>C (p.Thr337=) | |
11 | g.47346268A>T | CA474220862 | MYBPC3 | c.1029T>A (p.Thr343=) c.1011T>A (p.Thr337=) | |
11 | g.47346268_47346269delinsAG | CA1969339569 | MYBPC3 | c.1028_1029delinsCT (p.Thr343=) c.1010_1011delinsCT (p.Thr337=) | |
11 | g.47346269del | CA009708 | MYBPC3 | c.1028del (p.Thr343MetfsTer7) c.1010del (p.Thr337MetfsTer7) | ClinVar dbSNP gnomAD v4 |
11 | g.47346269G>A | CA380331288 | MYBPC3 | c.1028C>T (p.Thr343Ile) c.1010C>T (p.Thr337Ile) | ClinVar |
11 | g.47346269G>C | CA380331290 | MYBPC3 | c.1028C>G (p.Thr343Ser) c.1010C>G (p.Thr337Ser) | |
11 | g.47346269G>T | CA380331289 | MYBPC3 | c.1028C>A (p.Thr343Asn) c.1010C>A (p.Thr337Asn) | |
11 | g.47346271_47346278del | CA2695213930 | MYBPC3 | c.1021_1028del (p.Gly341Ter) c.1003_1010del (p.Gly335Ter) | |
11 | g.47346270T>A | CA380331292 | MYBPC3 | c.1027A>T (p.Thr343Ser) c.1009A>T (p.Thr337Ser) | |
11 | g.47346270T>C | CA380331296 | MYBPC3 | c.1027A>G (p.Thr343Ala) c.1009A>G (p.Thr337Ala) | |
11 | g.47346270T>G | CA380331297 | MYBPC3 | c.1027A>C (p.Thr343Pro) c.1009A>C (p.Thr337Pro) | |
11 | g.47346271G>A | CA474220872 | MYBPC3 | c.1026C>T (p.Val342=) c.1008C>T (p.Val336=) | |
11 | g.47346271G>C | CA474220869 | MYBPC3 | c.1026C>G (p.Val342=) c.1008C>G (p.Val336=) | |
11 | g.47346271G>T | CA474220868 | MYBPC3 | c.1026C>A (p.Val342=) c.1008C>A (p.Val336=) | |
11 | g.47346272A= | CA1969339572 | MYBPC3 | c.1025T= (p.Val342=) c.1007T= (p.Val336=) | |
11 | g.47346272A>C | CA380331298 | MYBPC3 | c.1025T>G (p.Val342Gly) c.1007T>G (p.Val336Gly) | |
11 | g.47346272A>G | CA380331299 | MYBPC3 | c.1025T>C (p.Val342Ala) c.1007T>C (p.Val336Ala) | gnomAD v4 |
11 | g.47346272A>T | CA009704 | MYBPC3 | c.1025T>A (p.Val342Asp) c.1007T>A (p.Val336Asp) | dbSNP |
11 | g.47346273C>A | CA380331301 | MYBPC3 | c.1024G>T (p.Val342Phe) c.1006G>T (p.Val336Phe) | |
11 | g.47346273C= | CA1969339574 | MYBPC3 | c.1024G= (p.Val342=) c.1006G= (p.Val336=) | |
11 | g.47346273C>G | CA380331312 | MYBPC3 | c.1024G>C (p.Val342Leu) c.1006G>C (p.Val336Leu) | |
11 | g.47346273C>T | CA009698 | MYBPC3 | c.1024G>A (p.Val342Ile) c.1006G>A (p.Val336Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346274G>A | CA042054 | MYBPC3 | c.1023C>T (p.Gly341=) c.1005C>T (p.Gly335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346274G>C | CA474220880 | MYBPC3 | c.1023C>G (p.Gly341=) c.1005C>G (p.Gly335=) | |
11 | g.47346274G= | CA1969339578 | MYBPC3 | c.1023C= (p.Gly341=) c.1005C= (p.Gly335=) | |
11 | g.47346274G>T | CA474220881 | MYBPC3 | c.1023C>A (p.Gly341=) c.1005C>A (p.Gly335=) | |
11 | g.47346275C>A | CA380331320 | MYBPC3 | c.1022G>T (p.Gly341Val) c.1004G>T (p.Gly335Val) | ClinVar dbSNP gnomAD v2 |
11 | g.47346275C= | CA1969339584 | MYBPC3 | c.1022G= (p.Gly341=) c.1004G= (p.Gly335=) | |
11 | g.47346275C>G | CA380331326 | MYBPC3 | c.1022G>C (p.Gly341Ala) c.1004G>C (p.Gly335Ala) | |
11 | g.47346275C>T | CA380331324 | MYBPC3 | c.1022G>A (p.Gly341Asp) c.1004G>A (p.Gly335Asp) | dbSNP COSMIC COSMIC |
11 | g.47346276C>A | CA380331329 | MYBPC3 | c.1021G>T (p.Gly341Cys) c.1003G>T (p.Gly335Cys) | |
11 | g.47346276C= | CA1969339586 | MYBPC3 | c.1021G= (p.Gly341=) c.1003G= (p.Gly335=) | |
11 | g.47346276C>G | CA380331331 | MYBPC3 | c.1021G>C (p.Gly341Arg) c.1003G>C (p.Gly335Arg) | |
11 | g.47346276C>T | CA009692 | MYBPC3 | c.1021G>A (p.Gly341Ser) c.1003G>A (p.Gly335Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346277del | CA2697548548 | MYBPC3 | c.1020del (p.Tyr340Ter) c.1002del (p.Tyr334Ter) | ClinVar |
11 | g.47346277G>A | CA042025 | MYBPC3 | c.1020C>T (p.Tyr340=) c.1002C>T (p.Tyr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346277G>C | CA380331334 | MYBPC3 | c.1020C>G (p.Tyr340Ter) c.1002C>G (p.Tyr334Ter) | |
11 | g.47346277G= | CA1969339595 | MYBPC3 | c.1020C= (p.Tyr340=) c.1002C= (p.Tyr334=) | |
11 | g.47346277G>T | CA380331336 | MYBPC3 | c.1020C>A (p.Tyr340Ter) c.1002C>A (p.Tyr334Ter) | |
11 | g.47346278T>A | CA380331339 | MYBPC3 | c.1019A>T (p.Tyr340Phe) c.1001A>T (p.Tyr334Phe) | |
11 | g.47346278T>C | CA380331342 | MYBPC3 | c.1019A>G (p.Tyr340Cys) c.1001A>G (p.Tyr334Cys) | |
11 | g.47346278T>G | CA380331349 | MYBPC3 | c.1019A>C (p.Tyr340Ser) c.1001A>C (p.Tyr334Ser) | |
11 | g.47346279A>C | CA380331354 | MYBPC3 | c.1018T>G (p.Tyr340Asp) c.1000T>G (p.Tyr334Asp) | |
11 | g.47346279A>G | CA380331358 | MYBPC3 | c.1018T>C (p.Tyr340His) c.1000T>C (p.Tyr334His) | |
11 | g.47346279A>T | CA380331360 | MYBPC3 | c.1018T>A (p.Tyr340Asn) c.1000T>A (p.Tyr334Asn) | |
11 | g.47346280C>A | CA380331363 | MYBPC3 | c.1017G>T (p.Gln339His) c.999G>T (p.Gln333His) | dbSNP |
11 | g.47346280C= | CA1969339603 | MYBPC3 | c.1017G= (p.Gln339=) c.999G= (p.Gln333=) | |
11 | g.47346280C>G | CA380331367 | MYBPC3 | c.1017G>C (p.Gln339His) c.999G>C (p.Gln333His) | ClinVar |
11 | g.47346280C>T | CA474220890 | MYBPC3 | c.1017G>A (p.Gln339=) c.999G>A (p.Gln333=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346281T>A | CA380331376 | MYBPC3 | c.1016A>T (p.Gln339Leu) c.998A>T (p.Gln333Leu) | |
11 | g.47346281T>C | CA380331368 | MYBPC3 | c.1016A>G (p.Gln339Arg) c.998A>G (p.Gln333Arg) | |
11 | g.47346281T>G | CA380331371 | MYBPC3 | c.1016A>C (p.Gln339Pro) c.998A>C (p.Gln333Pro) | |
11 | g.47346282G>A | CA009690 | MYBPC3 | c.1015C>T (p.Gln339Ter) c.997C>T (p.Gln333Ter) | ClinVar dbSNP |
11 | g.47346282G>C | CA380331386 | MYBPC3 | c.1015C>G (p.Gln339Glu) c.997C>G (p.Gln333Glu) | |
11 | g.47346282G= | CA1969339608 | MYBPC3 | c.1015C= (p.Gln339=) c.997C= (p.Gln333=) | |
11 | g.47346282G>T | CA380331389 | MYBPC3 | c.1015C>A (p.Gln339Lys) c.997C>A (p.Gln333Lys) | |
11 | g.47346283G>A | CA474220894 | MYBPC3 | c.1014C>T (p.Phe338=) c.996C>T (p.Phe332=) | |
11 | g.47346283G>C | CA380331392 | MYBPC3 | c.1014C>G (p.Phe338Leu) c.996C>G (p.Phe332Leu) | |
11 | g.47346283G>T | CA380331393 | MYBPC3 | c.1014C>A (p.Phe338Leu) c.996C>A (p.Phe332Leu) | |
11 | g.47346284A>C | CA380331396 | MYBPC3 | c.1013T>G (p.Phe338Cys) c.995T>G (p.Phe332Cys) | |
11 | g.47346284A>G | CA380331399 | MYBPC3 | c.1013T>C (p.Phe338Ser) c.995T>C (p.Phe332Ser) | |
11 | g.47346284A>T | CA380331400 | MYBPC3 | c.1013T>A (p.Phe338Tyr) c.995T>A (p.Phe332Tyr) | |
11 | g.47346285A>C | CA380331402 | MYBPC3 | c.1012T>G (p.Phe338Val) c.994T>G (p.Phe332Val) | |
11 | g.47346285A>G | CA380331405 | MYBPC3 | c.1012T>C (p.Phe338Leu) c.994T>C (p.Phe332Leu) | |
11 | g.47346285A>T | CA380331407 | MYBPC3 | c.1012T>A (p.Phe338Ile) c.994T>A (p.Phe332Ile) | |
11 | g.47346286G>A | CA474220899 | MYBPC3 | c.1011C>T (p.Ala337=) c.993C>T (p.Ala331=) | |
11 | g.47346286G>C | CA474220900 | MYBPC3 | c.1011C>G (p.Ala337=) c.993C>G (p.Ala331=) | ClinVar dbSNP |
11 | g.47346286G>T | CA474220901 | MYBPC3 | c.1011C>A (p.Ala337=) c.993C>A (p.Ala331=) | |
11 | g.47346287G>A | CA380331416 | MYBPC3 | c.1010C>T (p.Ala337Val) c.992C>T (p.Ala331Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346287G>C | CA380331420 | MYBPC3 | c.1010C>G (p.Ala337Gly) c.992C>G (p.Ala331Gly) | COSMIC COSMIC |
11 | g.47346287G= | CA1969339611 | MYBPC3 | c.1010C= (p.Ala337=) c.992C= (p.Ala331=) | |
11 | g.47346287G>T | CA380331413 | MYBPC3 | c.1010C>A (p.Ala337Asp) c.992C>A (p.Ala331Asp) | |
11 | g.47346288C>A | CA380331426 | MYBPC3 | c.1009G>T (p.Ala337Ser) c.991G>T (p.Ala331Ser) | |
11 | g.47346288C= | CA1969339615 | MYBPC3 | c.1009G= (p.Ala337=) c.991G= (p.Ala331=) | |
11 | g.47346288C>G | CA380331428 | MYBPC3 | c.1009G>C (p.Ala337Pro) c.991G>C (p.Ala331Pro) | |
11 | g.47346288C>T | CA042017 | MYBPC3 | c.1009G>A (p.Ala337Thr) c.991G>A (p.Ala331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346289G>A | CA009683 | MYBPC3 | c.1008C>T (p.Ile336=) c.990C>T (p.Ile330=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346289G>C | CA380331441 | MYBPC3 | c.1008C>G (p.Ile336Met) c.990C>G (p.Ile330Met) | ClinVar dbSNP |
11 | g.47346289G= | CA1969339618 | MYBPC3 | c.1008C= (p.Ile336=) c.990C= (p.Ile330=) | |
11 | g.47346289G>T | CA474220904 | MYBPC3 | c.1008C>A (p.Ile336=) c.990C>A (p.Ile330=) | dbSNP gnomAD v2 |
11 | g.47346290A>C | CA380331446 | MYBPC3 | c.1007T>G (p.Ile336Ser) c.989T>G (p.Ile330Ser) | |
11 | g.47346290A>G | CA380331444 | MYBPC3 | c.1007T>C (p.Ile336Thr) c.989T>C (p.Ile330Thr) | |
11 | g.47346290A>T | CA380331443 | MYBPC3 | c.1007T>A (p.Ile336Asn) c.989T>A (p.Ile330Asn) | |
11 | g.47346291T>A | CA042000 | MYBPC3 | c.1006A>T (p.Ile336Phe) c.988A>T (p.Ile330Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346291T>C | CA380331451 | MYBPC3 | c.1006A>G (p.Ile336Val) c.988A>G (p.Ile330Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47346291T>G | CA380331453 | MYBPC3 | c.1006A>C (p.Ile336Leu) c.988A>C (p.Ile330Leu) | |
11 | g.47346291T= | CA1969339620 | MYBPC3 | c.1006A= (p.Ile336=) c.988A= (p.Ile330=) | |
11 | g.47346292G>A | CA474220910 | MYBPC3 | c.1005C>T (p.Arg335=) c.987C>T (p.Arg329=) | |
11 | g.47346292G>C | CA474220908 | MYBPC3 | c.1005C>G (p.Arg335=) c.987C>G (p.Arg329=) | |
11 | g.47346292G>T | CA474220909 | MYBPC3 | c.1005C>A (p.Arg335=) c.987C>A (p.Arg329=) | |
11 | g.47346293C>A | CA380331454 | MYBPC3 | c.1004G>T (p.Arg335Leu) c.986G>T (p.Arg329Leu) | ClinVar gnomAD v4 |
11 | g.47346293C>G | CA380331458 | MYBPC3 | c.1004G>C (p.Arg335Pro) c.986G>C (p.Arg329Pro) | |
11 | g.47346293C>T | CA380331459 | MYBPC3 | c.1004G>A (p.Arg335His) c.986G>A (p.Arg329His) | gnomAD v4 |
11 | g.47346294G>A | CA009677 | MYBPC3 | c.1003C>T (p.Arg335Cys) c.985C>T (p.Arg329Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346294G>C | CA380331461 | MYBPC3 | c.1003C>G (p.Arg335Gly) c.985C>G (p.Arg329Gly) | |
11 | g.47346294G= | CA1969339623 | MYBPC3 | c.1003C= (p.Arg335=) c.985C= (p.Arg329=) | |
11 | g.47346294G>T | CA380331460 | MYBPC3 | c.1003C>A (p.Arg335Ser) c.985C>A (p.Arg329Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346295C>A | CA380331463 | MYBPC3 | c.1002G>T (p.Glu334Asp) c.984G>T (p.Glu328Asp) | |
11 | g.47346295C>G | CA380331466 | MYBPC3 | c.1002G>C (p.Glu334Asp) c.984G>C (p.Glu328Asp) | |
11 | g.47346295C>T | CA474220913 | MYBPC3 | c.1002G>A (p.Glu334=) c.984G>A (p.Glu328=) | gnomAD v4 COSMIC COSMIC |
11 | g.47346296T>A | CA380331470 | MYBPC3 | c.1001A>T (p.Glu334Val) c.983A>T (p.Glu328Val) | |
11 | g.47346296T>C | CA380331473 | MYBPC3 | c.1001A>G (p.Glu334Gly) c.983A>G (p.Glu328Gly) | |
11 | g.47346296T>G | CA380331479 | MYBPC3 | c.1001A>C (p.Glu334Ala) c.983A>C (p.Glu328Ala) | |
11 | g.47346297C>A | CA009672 | MYBPC3 | c.1000G>T (p.Glu334Ter) c.982G>T (p.Glu328Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47346297C= | CA1969339628 | MYBPC3 | c.1000G= (p.Glu334=) c.982G= (p.Glu328=) | |
11 | g.47346297C>G | CA380331485 | MYBPC3 | c.1000G>C (p.Glu334Gln) c.982G>C (p.Glu328Gln) | |
11 | g.47346297C>T | CA009667 | MYBPC3 | c.1000G>A (p.Glu334Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346298del | CA2697548549 | MYBPC3 | c.999del (p.Tyr333Ter) c.981del (p.Tyr327Ter) | ClinVar |
11 | g.47346298G>A | CA057719 | MYBPC3 | c.999C>T (p.Tyr333=) c.981C>T (p.Tyr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346298G>C | CA016252 | MYBPC3 | c.999C>G (p.Tyr333Ter) c.981C>G (p.Tyr327Ter) | ClinVar dbSNP |
11 | g.47346298G= | CA1969339631 | MYBPC3 | c.999C= (p.Tyr333=) c.981C= (p.Tyr327=) | |
11 | g.47346298G>T | CA380331492 | MYBPC3 | c.999C>A (p.Tyr333Ter) c.981C>A (p.Tyr327Ter) | ClinVar dbSNP |
11 | g.47346299T>A | CA380331496 | MYBPC3 | c.998A>T (p.Tyr333Phe) c.980A>T (p.Tyr327Phe) | |
11 | g.47346299T>C | CA380331502 | MYBPC3 | c.998A>G (p.Tyr333Cys) c.980A>G (p.Tyr327Cys) | |
11 | g.47346299T>G | CA380331500 | MYBPC3 | c.998A>C (p.Tyr333Ser) c.980A>C (p.Tyr327Ser) | |
11 | g.47346300A>C | CA380331504 | MYBPC3 | c.997T>G (p.Tyr333Asp) c.979T>G (p.Tyr327Asp) | |
11 | g.47346300A>G | CA380331508 | MYBPC3 | c.997T>C (p.Tyr333His) c.979T>C (p.Tyr327His) | |
11 | g.47346300A>T | CA380331506 | MYBPC3 | c.997T>A (p.Tyr333Asn) c.979T>A (p.Tyr327Asn) | |
11 | g.47346301C>A | CA380331511 | MYBPC3 | c.996G>T (p.Glu332Asp) c.978G>T (p.Glu326Asp) | |
11 | g.47346301C>G | CA380331513 | MYBPC3 | c.996G>C (p.Glu332Asp) c.978G>C (p.Glu326Asp) | |
11 | g.47346301C>T | CA474220921 | MYBPC3 | c.996G>A (p.Glu332=) c.978G>A (p.Glu326=) | |
11 | g.47346302T>A | CA380331515 | MYBPC3 | c.995A>T (p.Glu332Val) c.977A>T (p.Glu326Val) | |
11 | g.47346302T>C | CA380331517 | MYBPC3 | c.995A>G (p.Glu332Gly) c.977A>G (p.Glu326Gly) | |
11 | g.47346302T>G | CA380331519 | MYBPC3 | c.995A>C (p.Glu332Ala) c.977A>C (p.Glu326Ala) | |
11 | g.47346303C>A | CA16616724 | MYBPC3 | c.994G>T (p.Glu332Ter) c.976G>T (p.Glu326Ter) | |
11 | g.47346303C= | CA1969339637 | MYBPC3 | c.994G= (p.Glu332=) c.976G= (p.Glu326=) | |
11 | g.47346303C>G | CA380331523 | MYBPC3 | c.994G>C (p.Glu332Gln) c.976G>C (p.Glu326Gln) | |
11 | g.47346303C>T | CA016247 | MYBPC3 | c.994G>A (p.Glu332Lys) c.976G>A (p.Glu326Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346304A>C | CA474220927 | MYBPC3 | c.993T>G (p.Ser331=) c.975T>G (p.Ser325=) | |
11 | g.47346304A>G | CA474220928 | MYBPC3 | c.993T>C (p.Ser331=) c.975T>C (p.Ser325=) | |
11 | g.47346304A>T | CA474220929 | MYBPC3 | c.993T>A (p.Ser331=) c.975T>A (p.Ser325=) | |
11 | g.47346304dup | CA016238 | MYBPC3 | c.993dup (p.Glu332Ter) c.975dup (p.Glu326Ter) | ClinVar dbSNP |
11 | g.47346305G>A | CA380331530 | MYBPC3 | c.992C>T (p.Ser331Phe) c.974C>T (p.Ser325Phe) | |
11 | g.47346305G>C | CA380331533 | MYBPC3 | c.992C>G (p.Ser331Cys) c.974C>G (p.Ser325Cys) | |
11 | g.47346305G>T | CA380331535 | MYBPC3 | c.992C>A (p.Ser331Tyr) c.974C>A (p.Ser325Tyr) | |
11 | g.47346306A>C | CA380331540 | MYBPC3 | c.991T>G (p.Ser331Ala) c.973T>G (p.Ser325Ala) | |
11 | g.47346306A>G | CA380331548 | MYBPC3 | c.991T>C (p.Ser331Pro) c.973T>C (p.Ser325Pro) | |
11 | g.47346306A>T | CA380331554 | MYBPC3 | c.991T>A (p.Ser331Thr) c.973T>A (p.Ser325Thr) | |
11 | g.47346307T>A | CA474220934 | MYBPC3 | c.990A>T (p.Pro330=) c.972A>T (p.Pro324=) | |
11 | g.47346307T>C | CA474220936 | MYBPC3 | c.990A>G (p.Pro330=) c.972A>G (p.Pro324=) | |
11 | g.47346307T>G | CA474220932 | MYBPC3 | c.990A>C (p.Pro330=) c.972A>C (p.Pro324=) | ClinVar dbSNP |
11 | g.47346307T= | CA1969339642 | MYBPC3 | c.990A= (p.Pro330=) c.972A= (p.Pro324=) | |
11 | g.47346308G>A | CA380331558 | MYBPC3 | c.989C>T (p.Pro330Leu) c.971C>T (p.Pro324Leu) | gnomAD v4 |
11 | g.47346308G>C | CA380331572 | MYBPC3 | c.989C>G (p.Pro330Arg) c.971C>G (p.Pro324Arg) | |
11 | g.47346308G= | CA1969339644 | MYBPC3 | c.989C= (p.Pro330=) c.971C= (p.Pro324=) | |
11 | g.47346308G>T | CA380331569 | MYBPC3 | c.989C>A (p.Pro330Gln) c.971C>A (p.Pro324Gln) | dbSNP |
11 | g.47346312dup | CA2791323223 | MYBPC3 | c.989dup (p.Ser331IlefsTer2) c.971dup (p.Ser325IlefsTer2) | |
11 | g.47346312del | CA2573051156 | MYBPC3 | c.989del (p.Pro330HisfsTer20) c.971del (p.Pro324HisfsTer20) | ClinVar gnomAD v4 |