OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47330388_47335387del | CA2740090117 | |||
| 11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
| 11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | |
| 11 | g.47333596_47333810delinsGGCCTGGTA | CA2697548544 | MYBPC3 | c.2995-58_3151delinsTACCAGGCC c.2977-58_3133delinsTACCAGGCC c.2914-58_3070delinsTACCAGGCC | ClinVar |
| 11 | g.47333606C>A | CA474212351 | MYBPC3 | c.3141G>T (p.Val1047=) c.3123G>T (p.Val1041=) c.3060G>T (p.Val1020=) | dbSNP |
| 11 | g.47333606C= | CA1969335797 | MYBPC3 | c.3141G= (p.Val1047=) c.3123G= (p.Val1041=) c.3060G= (p.Val1020=) | |
| 11 | g.47333606C>G | CA474212352 | MYBPC3 | c.3141G>C (p.Val1047=) c.3123G>C (p.Val1041=) c.3060G>C (p.Val1020=) | |
| 11 | g.47333606C>T | CA474212353 | MYBPC3 | c.3141G>A (p.Val1047=) c.3123G>A (p.Val1041=) c.3060G>A (p.Val1020=) | |
| 11 | g.47333607A>C | CA380314901 | MYBPC3 | c.3140T>G (p.Val1047Gly) c.3122T>G (p.Val1041Gly) c.3059T>G (p.Val1020Gly) | |
| 11 | g.47333607A>G | CA380314904 | MYBPC3 | c.3140T>C (p.Val1047Ala) c.3122T>C (p.Val1041Ala) c.3059T>C (p.Val1020Ala) | |
| 11 | g.47333607A>T | CA380314905 | MYBPC3 | c.3140T>A (p.Val1047Glu) c.3122T>A (p.Val1041Glu) c.3059T>A (p.Val1020Glu) | |
| 11 | g.47333608C>A | CA380314908 | MYBPC3 | c.3139G>T (p.Val1047Leu) c.3121G>T (p.Val1041Leu) c.3058G>T (p.Val1020Leu) | gnomAD v4 |
| 11 | g.47333608C>G | CA380314913 | MYBPC3 | c.3139G>C (p.Val1047Leu) c.3121G>C (p.Val1041Leu) c.3058G>C (p.Val1020Leu) | |
| 11 | g.47333608C>T | CA380314915 | MYBPC3 | c.3139G>A (p.Val1047Met) c.3121G>A (p.Val1041Met) c.3058G>A (p.Val1020Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333609del | CA2695213939 | MYBPC3 | c.3139del (p.Val1047CysfsTer28) c.3121del (p.Val1041CysfsTer28) c.3058del (p.Val1020CysfsTer28) | |
| 11 | g.47333609C>A | CA474212355 | MYBPC3 | c.3138G>T (p.Thr1046=) c.3120G>T (p.Thr1040=) c.3057G>T (p.Thr1019=) | |
| 11 | g.47333609C= | CA1969335799 | MYBPC3 | c.3138G= (p.Thr1046=) c.3120G= (p.Thr1040=) c.3057G= (p.Thr1019=) | |
| 11 | g.47333609C>G | CA474212357 | MYBPC3 | c.3138G>C (p.Thr1046=) c.3120G>C (p.Thr1040=) c.3057G>C (p.Thr1019=) | gnomAD v4 |
| 11 | g.47333609C>T | CA079156 | MYBPC3 | c.3138G>A (p.Thr1046=) c.3120G>A (p.Thr1040=) c.3057G>A (p.Thr1019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333610del | CA2695213940 | MYBPC3 | c.3137del (p.Thr1046ArgfsTer29) c.3119del (p.Thr1040ArgfsTer29) c.3056del (p.Thr1019ArgfsTer29) | |
| 11 | g.47333610G>A | CA013532 | MYBPC3 | c.3137C>T (p.Thr1046Met) c.3119C>T (p.Thr1040Met) c.3056C>T (p.Thr1019Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333610G>C | CA380314921 | MYBPC3 | c.3137C>G (p.Thr1046Arg) c.3119C>G (p.Thr1040Arg) c.3056C>G (p.Thr1019Arg) | ClinVar dbSNP |
| 11 | g.47333610G= | CA1969335800 | MYBPC3 | c.3137C= (p.Thr1046=) c.3119C= (p.Thr1040=) c.3056C= (p.Thr1019=) | |
| 11 | g.47333610G>T | CA380314924 | MYBPC3 | c.3137C>A (p.Thr1046Lys) c.3119C>A (p.Thr1040Lys) c.3056C>A (p.Thr1019Lys) | |
| 11 | g.47333611T>A | CA380314927 | MYBPC3 | c.3136A>T (p.Thr1046Ser) c.3118A>T (p.Thr1040Ser) c.3055A>T (p.Thr1019Ser) | |
| 11 | g.47333611T>C | CA380314930 | MYBPC3 | c.3136A>G (p.Thr1046Ala) c.3118A>G (p.Thr1040Ala) c.3055A>G (p.Thr1019Ala) | |
| 11 | g.47333611T>G | CA380314932 | MYBPC3 | c.3136A>C (p.Thr1046Pro) c.3118A>C (p.Thr1040Pro) c.3055A>C (p.Thr1019Pro) | |
| 11 | g.47333612C>A | CA474429181 | MYBPC3 | c.3135G>T (p.Val1045=) c.3117G>T (p.Val1039=) c.3054G>T (p.Val1018=) | |
| 11 | g.47333612C>G | CA474429182 | MYBPC3 | c.3135G>C (p.Val1045=) c.3117G>C (p.Val1039=) c.3054G>C (p.Val1018=) | |
| 11 | g.47333612C>T | CA052695 | MYBPC3 | c.3135G>A (p.Val1045=) c.3117G>A (p.Val1039=) c.3054G>A (p.Val1018=) | |
| 11 | g.47333613A>C | CA380314934 | MYBPC3 | c.3134T>G (p.Val1045Gly) c.3116T>G (p.Val1039Gly) c.3053T>G (p.Val1018Gly) | |
| 11 | g.47333613A>G | CA380314936 | MYBPC3 | c.3134T>C (p.Val1045Ala) c.3116T>C (p.Val1039Ala) c.3053T>C (p.Val1018Ala) | |
| 11 | g.47333613A>T | CA380314939 | MYBPC3 | c.3134T>A (p.Val1045Glu) c.3116T>A (p.Val1039Glu) c.3053T>A (p.Val1018Glu) | |
| 11 | g.47333614C>A | CA380314942 | MYBPC3 | c.3133G>T (p.Val1045Leu) c.3115G>T (p.Val1039Leu) c.3052G>T (p.Val1018Leu) | |
| 11 | g.47333614C>G | CA380314945 | MYBPC3 | c.3133G>C (p.Val1045Leu) c.3115G>C (p.Val1039Leu) c.3052G>C (p.Val1018Leu) | |
| 11 | g.47333614C>T | CA380314947 | MYBPC3 | c.3133G>A (p.Val1045Met) c.3115G>A (p.Val1039Met) c.3052G>A (p.Val1018Met) | gnomAD v4 |
| 11 | g.47333615C>A | CA380314949 | MYBPC3 | c.3132G>T (p.Gln1044His) c.3114G>T (p.Gln1038His) c.3051G>T (p.Gln1017His) | |
| 11 | g.47333615C>G | CA380314952 | MYBPC3 | c.3132G>C (p.Gln1044His) c.3114G>C (p.Gln1038His) c.3051G>C (p.Gln1017His) | |
| 11 | g.47333615C>T | CA474429184 | MYBPC3 | c.3132G>A (p.Gln1044=) c.3114G>A (p.Gln1038=) c.3051G>A (p.Gln1017=) | |
| 11 | g.47333616T>A | CA380314955 | MYBPC3 | c.3131A>T (p.Gln1044Leu) c.3113A>T (p.Gln1038Leu) c.3050A>T (p.Gln1017Leu) | COSMIC COSMIC |
| 11 | g.47333616T>C | CA380314959 | MYBPC3 | c.3131A>G (p.Gln1044Arg) c.3113A>G (p.Gln1038Arg) c.3050A>G (p.Gln1017Arg) | gnomAD v4 |
| 11 | g.47333616T>G | CA380314957 | MYBPC3 | c.3131A>C (p.Gln1044Pro) c.3113A>C (p.Gln1038Pro) c.3050A>C (p.Gln1017Pro) | |
| 11 | g.47333617G>A | CA380314962 | MYBPC3 | c.3130C>T (p.Gln1044Ter) c.3112C>T (p.Gln1038Ter) c.3049C>T (p.Gln1017Ter) | |
| 11 | g.47333617G>C | CA380314964 | MYBPC3 | c.3130C>G (p.Gln1044Glu) c.3112C>G (p.Gln1038Glu) c.3049C>G (p.Gln1017Glu) | ClinVar dbSNP |
| 11 | g.47333617G= | CA1969335803 | MYBPC3 | c.3130C= (p.Gln1044=) c.3112C= (p.Gln1038=) c.3049C= (p.Gln1017=) | |
| 11 | g.47333617G>T | CA380314966 | MYBPC3 | c.3130C>A (p.Gln1044Lys) c.3112C>A (p.Gln1038Lys) c.3049C>A (p.Gln1017Lys) | gnomAD v4 |
| 11 | g.47333618del | CA2613393910 | MYBPC3 | c.3130del (p.Gln1044ArgfsTer2) c.3112del (p.Gln1038ArgfsTer2) c.3049del (p.Gln1017ArgfsTer2) | gnomAD v4 |
| 11 | g.47333618G>A | CA079153 | MYBPC3 | c.3129C>T (p.Tyr1043=) c.3111C>T (p.Tyr1037=) c.3048C>T (p.Tyr1016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333618G>C | CA380314971 | MYBPC3 | c.3129C>G (p.Tyr1043Ter) c.3111C>G (p.Tyr1037Ter) c.3048C>G (p.Tyr1016Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333618G= | CA1969335807 | MYBPC3 | c.3129C= (p.Tyr1043=) c.3111C= (p.Tyr1037=) c.3048C= (p.Tyr1016=) | |
| 11 | g.47333618G>T | CA013521 | MYBPC3 | c.3129C>A (p.Tyr1043Ter) c.3111C>A (p.Tyr1037Ter) c.3048C>A (p.Tyr1016Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333619_47333643del | CA2613393911 | MYBPC3 | c.3105_3129del (p.Arg1037Ter) c.3087_3111del (p.Arg1031Ter) c.3024_3048del (p.Arg1010Ter) | gnomAD v4 |
| 11 | g.47333619T>A | CA380314982 | MYBPC3 | c.3128A>T (p.Tyr1043Phe) c.3110A>T (p.Tyr1037Phe) c.3047A>T (p.Tyr1016Phe) | |
| 11 | g.47333619T>C | CA380314984 | MYBPC3 | c.3128A>G (p.Tyr1043Cys) c.3110A>G (p.Tyr1037Cys) c.3047A>G (p.Tyr1016Cys) | |
| 11 | g.47333619T>G | CA380314990 | MYBPC3 | c.3128A>C (p.Tyr1043Ser) c.3110A>C (p.Tyr1037Ser) c.3047A>C (p.Tyr1016Ser) | |
| 11 | g.47333620A= | CA1969335809 | MYBPC3 | c.3127T= (p.Tyr1043=) c.3109T= (p.Tyr1037=) c.3046T= (p.Tyr1016=) | |
| 11 | g.47333620A>C | CA380314993 | MYBPC3 | c.3127T>G (p.Tyr1043Asp) c.3109T>G (p.Tyr1037Asp) c.3046T>G (p.Tyr1016Asp) | |
| 11 | g.47333620A>G | CA079151 | MYBPC3 | c.3127T>C (p.Tyr1043His) c.3109T>C (p.Tyr1037His) c.3046T>C (p.Tyr1016His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333620A>T | CA079150 | MYBPC3 | c.3127T>A (p.Tyr1043Asn) c.3109T>A (p.Tyr1037Asn) c.3046T>A (p.Tyr1016Asn) | dbSNP ExAC gnomAD v2 |
| 11 | g.47333621dup | CA2574815785 | MYBPC3 | c.3127dup (p.Tyr1043LeufsTer8) c.3109dup (p.Tyr1037LeufsTer8) c.3046dup (p.Tyr1016LeufsTer8) | ClinVar |
| 11 | g.47333621A= | CA1969335811 | MYBPC3 | c.3126T= (p.Thr1042=) c.3108T= (p.Thr1036=) c.3045T= (p.Thr1015=) | |
| 11 | g.47333621A>C | CA474429186 | MYBPC3 | c.3126T>G (p.Thr1042=) c.3108T>G (p.Thr1036=) c.3045T>G (p.Thr1015=) | dbSNP |
| 11 | g.47333621A>G | CA474429189 | MYBPC3 | c.3126T>C (p.Thr1042=) c.3108T>C (p.Thr1036=) c.3045T>C (p.Thr1015=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333621A>T | CA474429187 | MYBPC3 | c.3126T>A (p.Thr1042=) c.3108T>A (p.Thr1036=) c.3045T>A (p.Thr1015=) | |
| 11 | g.47333622G>A | CA380315007 | MYBPC3 | c.3125C>T (p.Thr1042Ile) c.3107C>T (p.Thr1036Ile) c.3044C>T (p.Thr1015Ile) | gnomAD v4 |
| 11 | g.47333622G>C | CA380315010 | MYBPC3 | c.3125C>G (p.Thr1042Ser) c.3107C>G (p.Thr1036Ser) c.3044C>G (p.Thr1015Ser) | dbSNP |
| 11 | g.47333622G= | CA1969335812 | MYBPC3 | c.3125C= (p.Thr1042=) c.3107C= (p.Thr1036=) c.3044C= (p.Thr1015=) | |
| 11 | g.47333622G>T | CA380315009 | MYBPC3 | c.3125C>A (p.Thr1042Asn) c.3107C>A (p.Thr1036Asn) c.3044C>A (p.Thr1015Asn) | gnomAD v4 |
| 11 | g.47333623del | CA2573146370 | MYBPC3 | c.3124del (p.Thr1042LeufsTer4) c.3106del (p.Thr1036LeufsTer4) c.3043del (p.Thr1015LeufsTer4) | ClinVar dbSNP |
| 11 | g.47333623T>A | CA380315013 | MYBPC3 | c.3124A>T (p.Thr1042Ser) c.3106A>T (p.Thr1036Ser) c.3043A>T (p.Thr1015Ser) | |
| 11 | g.47333623T>C | CA380315016 | MYBPC3 | c.3124A>G (p.Thr1042Ala) c.3106A>G (p.Thr1036Ala) c.3043A>G (p.Thr1015Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333623T>G | CA380315018 | MYBPC3 | c.3124A>C (p.Thr1042Pro) c.3106A>C (p.Thr1036Pro) c.3043A>C (p.Thr1015Pro) | |
| 11 | g.47333623T= | CA1969335816 | MYBPC3 | c.3124A= (p.Thr1042=) c.3106A= (p.Thr1036=) c.3043A= (p.Thr1015=) | |
| 11 | g.47333623_47333624insTT | CA16619335 | MYBPC3 | c.3124_3125insAA (p.Thr1042LysfsTer5) c.3106_3107insAA (p.Thr1036LysfsTer5) c.3043_3044insAA (p.Thr1015LysfsTer5) | ClinVar dbSNP |
| 11 | g.47333624G>A | CA013510 | MYBPC3 | c.3123C>T (p.Gly1041=) c.3105C>T (p.Gly1035=) c.3042C>T (p.Gly1014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333624G>C | CA474429192 | MYBPC3 | c.3123C>G (p.Gly1041=) c.3105C>G (p.Gly1035=) c.3042C>G (p.Gly1014=) | ClinVar dbSNP |
| 11 | g.47333624G= | CA1969335818 | MYBPC3 | c.3123C= (p.Gly1041=) c.3105C= (p.Gly1035=) c.3042C= (p.Gly1014=) | |
| 11 | g.47333624G>T | CA474429191 | MYBPC3 | c.3123C>A (p.Gly1041=) c.3105C>A (p.Gly1035=) c.3042C>A (p.Gly1014=) | |
| 11 | g.47333625C>A | CA380315022 | MYBPC3 | c.3122G>T (p.Gly1041Val) c.3104G>T (p.Gly1035Val) c.3041G>T (p.Gly1014Val) | gnomAD v4 |
| 11 | g.47333625C= | CA1969335820 | MYBPC3 | c.3122G= (p.Gly1041=) c.3104G= (p.Gly1035=) c.3041G= (p.Gly1014=) | |
| 11 | g.47333625C>G | CA380315025 | MYBPC3 | c.3122G>C (p.Gly1041Ala) c.3104G>C (p.Gly1035Ala) c.3041G>C (p.Gly1014Ala) | |
| 11 | g.47333625C>T | CA079146 | MYBPC3 | c.3122G>A (p.Gly1041Asp) c.3104G>A (p.Gly1035Asp) c.3041G>A (p.Gly1014Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333626C>A | CA380315030 | MYBPC3 | c.3121G>T (p.Gly1041Cys) c.3103G>T (p.Gly1035Cys) c.3040G>T (p.Gly1014Cys) | |
| 11 | g.47333626C>G | CA380315032 | MYBPC3 | c.3121G>C (p.Gly1041Arg) c.3103G>C (p.Gly1035Arg) c.3040G>C (p.Gly1014Arg) | |
| 11 | g.47333626C>T | CA380315033 | MYBPC3 | c.3121G>A (p.Gly1041Ser) c.3103G>A (p.Gly1035Ser) c.3040G>A (p.Gly1014Ser) | gnomAD v4 |
| 11 | g.47333626_47333631delinsCTGAAT | CA1969335821 | MYBPC3 | c.3116_3121delinsATTCAG (p.His1039=) c.3098_3103delinsATTCAG (p.His1033=) c.3035_3040delinsATTCAG (p.His1012=) | |
| 11 | g.47333627T>A | CA474429197 | MYBPC3 | c.3120A>T (p.Ser1040=) c.3102A>T (p.Ser1034=) c.3039A>T (p.Ser1013=) | gnomAD v4 |
| 11 | g.47333627T>C | CA474429199 | MYBPC3 | c.3120A>G (p.Ser1040=) c.3102A>G (p.Ser1034=) c.3039A>G (p.Ser1013=) | dbSNP gnomAD v4 |
| 11 | g.47333627T>G | CA474429198 | MYBPC3 | c.3120A>C (p.Ser1040=) c.3102A>C (p.Ser1034=) c.3039A>C (p.Ser1013=) | |
| 11 | g.47333627T= | CA1969335822 | MYBPC3 | c.3120A= (p.Ser1040=) c.3102A= (p.Ser1034=) c.3039A= (p.Ser1013=) | |
| 11 | g.47333627_47333631del | CA913190261 | MYBPC3 | c.3116_3120del (p.His1039ArgfsTer10) c.3098_3102del (p.His1033ArgfsTer10) c.3035_3039del (p.His1012ArgfsTer10) | ClinVar dbSNP |
| 11 | g.47333628G>A | CA380315037 | MYBPC3 | c.3119C>T (p.Ser1040Leu) c.3101C>T (p.Ser1034Leu) c.3038C>T (p.Ser1013Leu) | dbSNP gnomAD v4 |
| 11 | g.47333628G>C | CA380315040 | MYBPC3 | c.3119C>G (p.Ser1040Ter) c.3101C>G (p.Ser1034Ter) c.3038C>G (p.Ser1013Ter) | |
| 11 | g.47333628G= | CA1969335825 | MYBPC3 | c.3119C= (p.Ser1040=) c.3101C= (p.Ser1034=) c.3038C= (p.Ser1013=) | |
| 11 | g.47333628G>T | CA380315035 | MYBPC3 | c.3119C>A (p.Ser1040Ter) c.3101C>A (p.Ser1034Ter) c.3038C>A (p.Ser1013Ter) | gnomAD v4 |
| 11 | g.47333629A= | CA1969335827 | MYBPC3 | c.3118T= (p.Ser1040=) c.3100T= (p.Ser1034=) c.3037T= (p.Ser1013=) | |
| 11 | g.47333629A>C | CA013500 | MYBPC3 | c.3118T>G (p.Ser1040Ala) c.3100T>G (p.Ser1034Ala) c.3037T>G (p.Ser1013Ala) | ClinVar dbSNP |
| 11 | g.47333629A>G | CA380315043 | MYBPC3 | c.3118T>C (p.Ser1040Pro) c.3100T>C (p.Ser1034Pro) c.3037T>C (p.Ser1013Pro) | |
| 11 | g.47333629A>T | CA380315045 | MYBPC3 | c.3118T>A (p.Ser1040Thr) c.3100T>A (p.Ser1034Thr) c.3037T>A (p.Ser1013Thr) | |
| 11 | g.47333630A= | CA1969335829 | MYBPC3 | c.3117T= (p.His1039=) c.3099T= (p.His1033=) c.3036T= (p.His1012=) | |
| 11 | g.47333630A>C | CA380315049 | MYBPC3 | c.3117T>G (p.His1039Gln) c.3099T>G (p.His1033Gln) c.3036T>G (p.His1012Gln) | |
| 11 | g.47333630A>G | CA474429203 | MYBPC3 | c.3117T>C (p.His1039=) c.3099T>C (p.His1033=) c.3036T>C (p.His1012=) | dbSNP |
| 11 | g.47333630A>T | CA380315061 | MYBPC3 | c.3117T>A (p.His1039Gln) c.3099T>A (p.His1033Gln) c.3036T>A (p.His1012Gln) | |
| 11 | g.47333631T>A | CA380315066 | MYBPC3 | c.3116A>T (p.His1039Leu) c.3098A>T (p.His1033Leu) c.3035A>T (p.His1012Leu) | |
| 11 | g.47333631T>C | CA079144 | MYBPC3 | c.3116A>G (p.His1039Arg) c.3098A>G (p.His1033Arg) c.3035A>G (p.His1012Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333631T>G | CA380315072 | MYBPC3 | c.3116A>C (p.His1039Pro) c.3098A>C (p.His1033Pro) c.3035A>C (p.His1012Pro) | |
| 11 | g.47333631T= | CA1969335831 | MYBPC3 | c.3116A= (p.His1039=) c.3098A= (p.His1033=) c.3035A= (p.His1012=) | |
| 11 | g.47333632G>A | CA380315074 | MYBPC3 | c.3115C>T (p.His1039Tyr) c.3097C>T (p.His1033Tyr) c.3034C>T (p.His1012Tyr) | gnomAD v4 |
| 11 | g.47333632G>C | CA380315077 | MYBPC3 | c.3115C>G (p.His1039Asp) c.3097C>G (p.His1033Asp) c.3034C>G (p.His1012Asp) | |
| 11 | g.47333632G>T | CA380315079 | MYBPC3 | c.3115C>A (p.His1039Asn) c.3097C>A (p.His1033Asn) c.3034C>A (p.His1012Asn) | gnomAD v4 |
| 11 | g.47333633C>A | CA474429204 | MYBPC3 | c.3114G>T (p.Val1038=) c.3096G>T (p.Val1032=) c.3033G>T (p.Val1011=) | dbSNP gnomAD v4 |
| 11 | g.47333633C= | CA1969335832 | MYBPC3 | c.3114G= (p.Val1038=) c.3096G= (p.Val1032=) c.3033G= (p.Val1011=) | |
| 11 | g.47333633C>G | CA474429205 | MYBPC3 | c.3114G>C (p.Val1038=) c.3096G>C (p.Val1032=) c.3033G>C (p.Val1011=) | ClinVar dbSNP |
| 11 | g.47333633C>T | CA474429206 | MYBPC3 | c.3114G>A (p.Val1038=) c.3096G>A (p.Val1032=) c.3033G>A (p.Val1011=) | dbSNP gnomAD v4 |
| 11 | g.47333634A= | CA1969335835 | MYBPC3 | c.3113T= (p.Val1038=) c.3095T= (p.Val1032=) c.3032T= (p.Val1011=) | |
| 11 | g.47333634A>C | CA380315081 | MYBPC3 | c.3113T>G (p.Val1038Gly) c.3095T>G (p.Val1032Gly) c.3032T>G (p.Val1011Gly) | |
| 11 | g.47333634A>G | CA380315084 | MYBPC3 | c.3113T>C (p.Val1038Ala) c.3095T>C (p.Val1032Ala) c.3032T>C (p.Val1011Ala) | dbSNP |
| 11 | g.47333634A>T | CA079142 | MYBPC3 | c.3113T>A (p.Val1038Glu) c.3095T>A (p.Val1032Glu) c.3032T>A (p.Val1011Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333634_47333635insG | CA2695213942 | MYBPC3 | c.3112_3113insC (p.Val1038AlafsTer13) c.3094_3095insC (p.Val1032AlafsTer13) c.3031_3032insC (p.Val1011AlafsTer13) | |
| 11 | g.47333635C>A | CA380315091 | MYBPC3 | c.3112G>T (p.Val1038Leu) c.3094G>T (p.Val1032Leu) c.3031G>T (p.Val1011Leu) | |
| 11 | g.47333635C= | CA1969335836 | MYBPC3 | c.3112G= (p.Val1038=) c.3094G= (p.Val1032=) c.3031G= (p.Val1011=) | |
| 11 | g.47333635C>G | CA380315089 | MYBPC3 | c.3112G>C (p.Val1038Leu) c.3094G>C (p.Val1032Leu) c.3031G>C (p.Val1011Leu) | gnomAD v4 |
| 11 | g.47333635C>T | CA079139 | MYBPC3 | c.3112G>A (p.Val1038Met) c.3094G>A (p.Val1032Met) c.3031G>A (p.Val1011Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333636G>A | CA079137 | MYBPC3 | c.3111C>T (p.Arg1037=) c.3093C>T (p.Arg1031=) c.3030C>T (p.Arg1010=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333636G>C | CA474429210 | MYBPC3 | c.3111C>G (p.Arg1037=) c.3093C>G (p.Arg1031=) c.3030C>G (p.Arg1010=) | |
| 11 | g.47333636G= | CA1969335837 | MYBPC3 | c.3111C= (p.Arg1037=) c.3093C= (p.Arg1031=) c.3030C= (p.Arg1010=) | |
| 11 | g.47333636G>T | CA474429211 | MYBPC3 | c.3111C>A (p.Arg1037=) c.3093C>A (p.Arg1031=) c.3030C>A (p.Arg1010=) | gnomAD v4 |
| 11 | g.47333637C>A | CA380315096 | MYBPC3 | c.3110G>T (p.Arg1037Leu) c.3092G>T (p.Arg1031Leu) c.3029G>T (p.Arg1010Leu) | |
| 11 | g.47333637C= | CA1969335839 | MYBPC3 | c.3110G= (p.Arg1037=) c.3092G= (p.Arg1031=) c.3029G= (p.Arg1010=) | |
| 11 | g.47333637C>G | CA380315097 | MYBPC3 | c.3110G>C (p.Arg1037Pro) c.3092G>C (p.Arg1031Pro) c.3029G>C (p.Arg1010Pro) | |
| 11 | g.47333637C>T | CA052599 | MYBPC3 | c.3110G>A (p.Arg1037His) c.3092G>A (p.Arg1031His) c.3029G>A (p.Arg1010His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333638G>A | CA079133 | MYBPC3 | c.3109C>T (p.Arg1037Cys) c.3091C>T (p.Arg1031Cys) c.3028C>T (p.Arg1010Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333638G>C | CA079131 | MYBPC3 | c.3109C>G (p.Arg1037Gly) c.3091C>G (p.Arg1031Gly) c.3028C>G (p.Arg1010Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333638G= | CA1969335840 | MYBPC3 | c.3109C= (p.Arg1037=) c.3091C= (p.Arg1031=) c.3028C= (p.Arg1010=) | |
| 11 | g.47333638G>T | CA380315102 | MYBPC3 | c.3109C>A (p.Arg1037Ser) c.3091C>A (p.Arg1031Ser) c.3028C>A (p.Arg1010Ser) | gnomAD v4 |
| 11 | g.47333639G>A | CA052577 | MYBPC3 | c.3108C>T (p.Arg1036=) c.3090C>T (p.Arg1030=) c.3027C>T (p.Arg1009=) | ClinVar |
| 11 | g.47333639G>C | CA079129 | MYBPC3 | c.3108C>G (p.Arg1036=) c.3090C>G (p.Arg1030=) c.3027C>G (p.Arg1009=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333639G= | CA1969335842 | MYBPC3 | c.3108C= (p.Arg1036=) c.3090C= (p.Arg1030=) c.3027C= (p.Arg1009=) | |
| 11 | g.47333639G>T | CA16605920 | MYBPC3 | c.3108C>A (p.Arg1036=) c.3090C>A (p.Arg1030=) c.3027C>A (p.Arg1009=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333640C>A | CA380315107 | MYBPC3 | c.3107G>T (p.Arg1036Leu) c.3089G>T (p.Arg1030Leu) c.3026G>T (p.Arg1009Leu) | ClinVar gnomAD v4 |
| 11 | g.47333640C= | CA1969335843 | MYBPC3 | c.3107G= (p.Arg1036=) c.3089G= (p.Arg1030=) c.3026G= (p.Arg1009=) | |
| 11 | g.47333640C>G | CA380315108 | MYBPC3 | c.3107G>C (p.Arg1036Pro) c.3089G>C (p.Arg1030Pro) c.3026G>C (p.Arg1009Pro) | gnomAD v4 |
| 11 | g.47333640C>T | CA013496 | MYBPC3 | c.3107G>A (p.Arg1036His) c.3089G>A (p.Arg1030His) c.3026G>A (p.Arg1009His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333641G>A | CA013488 | MYBPC3 | c.3106C>T (p.Arg1036Cys) c.3088C>T (p.Arg1030Cys) c.3025C>T (p.Arg1009Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333641G>C | CA052534 | MYBPC3 | c.3106C>G (p.Arg1036Gly) c.3088C>G (p.Arg1030Gly) c.3025C>G (p.Arg1009Gly) | |
| 11 | g.47333641G= | CA1969335845 | MYBPC3 | c.3106C= (p.Arg1036=) c.3088C= (p.Arg1030=) c.3025C= (p.Arg1009=) | |
| 11 | g.47333641G>T | CA380315110 | MYBPC3 | c.3106C>A (p.Arg1036Ser) c.3088C>A (p.Arg1030Ser) c.3025C>A (p.Arg1009Ser) | gnomAD v4 |
| 11 | g.47333642A= | CA1969335846 | MYBPC3 | c.3105T= (p.Ala1035=) c.3087T= (p.Ala1029=) c.3024T= (p.Ala1008=) | |
| 11 | g.47333642A>C | CA474429214 | MYBPC3 | c.3105T>G (p.Ala1035=) c.3087T>G (p.Ala1029=) c.3024T>G (p.Ala1008=) | |
| 11 | g.47333642A>G | CA474429215 | MYBPC3 | c.3105T>C (p.Ala1035=) c.3087T>C (p.Ala1029=) c.3024T>C (p.Ala1008=) | dbSNP |
| 11 | g.47333642A>T | CA079125 | MYBPC3 | c.3105T>A (p.Ala1035=) c.3087T>A (p.Ala1029=) c.3024T>A (p.Ala1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333643G>A | CA380315118 | MYBPC3 | c.3104C>T (p.Ala1035Val) c.3086C>T (p.Ala1029Val) c.3023C>T (p.Ala1008Val) | gnomAD v4 |
| 11 | g.47333643G>C | CA380315120 | MYBPC3 | c.3104C>G (p.Ala1035Gly) c.3086C>G (p.Ala1029Gly) c.3023C>G (p.Ala1008Gly) | ClinVar |
| 11 | g.47333643G>T | CA380315123 | MYBPC3 | c.3104C>A (p.Ala1035Asp) c.3086C>A (p.Ala1029Asp) c.3023C>A (p.Ala1008Asp) | gnomAD v4 |
| 11 | g.47333644C>A | CA380315130 | MYBPC3 | c.3103G>T (p.Ala1035Ser) c.3085G>T (p.Ala1029Ser) c.3022G>T (p.Ala1008Ser) | |
| 11 | g.47333644C= | CA1969335848 | MYBPC3 | c.3103G= (p.Ala1035=) c.3085G= (p.Ala1029=) c.3022G= (p.Ala1008=) | |
| 11 | g.47333644C>G | CA380315134 | MYBPC3 | c.3103G>C (p.Ala1035Pro) c.3085G>C (p.Ala1029Pro) c.3022G>C (p.Ala1008Pro) | |
| 11 | g.47333644C>T | CA013485 | MYBPC3 | c.3103G>A (p.Ala1035Thr) c.3085G>A (p.Ala1029Thr) c.3022G>A (p.Ala1008Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333645G>A | CA013476 | MYBPC3 | c.3102C>T (p.Ala1034=) c.3084C>T (p.Ala1028=) c.3021C>T (p.Ala1007=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333645G>C | CA474429219 | MYBPC3 | c.3102C>G (p.Ala1034=) c.3084C>G (p.Ala1028=) c.3021C>G (p.Ala1007=) | |
| 11 | g.47333645G= | CA1969335853 | MYBPC3 | c.3102C= (p.Ala1034=) c.3084C= (p.Ala1028=) c.3021C= (p.Ala1007=) | |
| 11 | g.47333645G>T | CA474429221 | MYBPC3 | c.3102C>A (p.Ala1034=) c.3084C>A (p.Ala1028=) c.3021C>A (p.Ala1007=) | gnomAD v4 |
| 11 | g.47333645_47333658delinsGGCCCGGATGAACA | CA1969335852 | MYBPC3 | c.3089_3102delinsTGTTCATCCGGGCC (p.Leu1030=) c.3071_3084delinsTGTTCATCCGGGCC (p.Leu1024=) c.3008_3021delinsTGTTCATCCGGGCC (p.Leu1003=) | |
| 11 | g.47333646G>A | CA380315141 | MYBPC3 | c.3101C>T (p.Ala1034Val) c.3083C>T (p.Ala1028Val) c.3020C>T (p.Ala1007Val) | |
| 11 | g.47333646G>C | CA380315143 | MYBPC3 | c.3101C>G (p.Ala1034Gly) c.3083C>G (p.Ala1028Gly) c.3020C>G (p.Ala1007Gly) | |
| 11 | g.47333646G>T | CA380315146 | MYBPC3 | c.3101C>A (p.Ala1034Asp) c.3083C>A (p.Ala1028Asp) c.3020C>A (p.Ala1007Asp) | gnomAD v4 |
| 11 | g.47333646_47333647delinsGC | CA1969335855 | MYBPC3 | c.3100_3101delinsGC (p.Ala1034=) c.3082_3083delinsGC (p.Ala1028=) c.3019_3020delinsGC (p.Ala1007=) | |
| 11 | g.47333647_47333659del | CA013448 | MYBPC3 | c.3089_3101del (p.Leu1030ProfsTer12) c.3071_3083del (p.Leu1024ProfsTer12) c.3008_3020del (p.Leu1003ProfsTer12) | ClinVar dbSNP |
| 11 | g.47333647C>A | CA380315152 | MYBPC3 | c.3100G>T (p.Ala1034Ser) c.3082G>T (p.Ala1028Ser) c.3019G>T (p.Ala1007Ser) | |
| 11 | g.47333647C= | CA1969335858 | MYBPC3 | c.3100G= (p.Ala1034=) c.3082G= (p.Ala1028=) c.3019G= (p.Ala1007=) | |
| 11 | g.47333647C>G | CA380315154 | MYBPC3 | c.3100G>C (p.Ala1034Pro) c.3082G>C (p.Ala1028Pro) c.3019G>C (p.Ala1007Pro) | |
| 11 | g.47333647C>T | CA052494 | MYBPC3 | c.3100G>A (p.Ala1034Thr) c.3082G>A (p.Ala1028Thr) c.3019G>A (p.Ala1007Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333649del | CA16613610 | MYBPC3 | c.3100del (p.Ala1034ProfsTer12) c.3082del (p.Ala1028ProfsTer12) c.3019del (p.Ala1007ProfsTer12) | ClinVar dbSNP |
| 11 | g.47333648C>A | CA474429223 | MYBPC3 | c.3099G>T (p.Arg1033=) c.3081G>T (p.Arg1027=) c.3018G>T (p.Arg1006=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333648C= | CA1969335860 | MYBPC3 | c.3099G= (p.Arg1033=) c.3081G= (p.Arg1027=) c.3018G= (p.Arg1006=) | |
| 11 | g.47333648C>G | CA474429227 | MYBPC3 | c.3099G>C (p.Arg1033=) c.3081G>C (p.Arg1027=) c.3018G>C (p.Arg1006=) | gnomAD v4 |
| 11 | g.47333648C>T | CA474429225 | MYBPC3 | c.3099G>A (p.Arg1033=) c.3081G>A (p.Arg1027=) c.3018G>A (p.Arg1006=) | dbSNP |
| 11 | g.47333649C>A | CA380315156 | MYBPC3 | c.3098G>T (p.Arg1033Leu) c.3080G>T (p.Arg1027Leu) c.3017G>T (p.Arg1006Leu) | dbSNP gnomAD v2 |
| 11 | g.47333649C= | CA1969335863 | MYBPC3 | c.3098G= (p.Arg1033=) c.3080G= (p.Arg1027=) c.3017G= (p.Arg1006=) | |
| 11 | g.47333649C>G | CA380315158 | MYBPC3 | c.3098G>C (p.Arg1033Pro) c.3080G>C (p.Arg1027Pro) c.3017G>C (p.Arg1006Pro) | |
| 11 | g.47333649C>T | CA013470 | MYBPC3 | c.3098G>A (p.Arg1033Gln) c.3080G>A (p.Arg1027Gln) c.3017G>A (p.Arg1006Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47333650G>A | CA079120 | MYBPC3 | c.3097C>T (p.Arg1033Trp) c.3079C>T (p.Arg1027Trp) c.3016C>T (p.Arg1006Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333650G>C | CA380315165 | MYBPC3 | c.3097C>G (p.Arg1033Gly) c.3079C>G (p.Arg1027Gly) c.3016C>G (p.Arg1006Gly) | |
| 11 | g.47333650G= | CA1969335864 | MYBPC3 | c.3097C= (p.Arg1033=) c.3079C= (p.Arg1027=) c.3016C= (p.Arg1006=) | |
| 11 | g.47333650G>T | CA474429229 | MYBPC3 | c.3097C>A (p.Arg1033=) c.3079C>A (p.Arg1027=) c.3016C>A (p.Arg1006=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333651G>A | CA474429230 | MYBPC3 | c.3096C>T (p.Ile1032=) c.3078C>T (p.Ile1026=) c.3015C>T (p.Ile1005=) | |
| 11 | g.47333651G>C | CA380315168 | MYBPC3 | c.3096C>G (p.Ile1032Met) c.3078C>G (p.Ile1026Met) c.3015C>G (p.Ile1005Met) | |
| 11 | g.47333651G>T | CA474429232 | MYBPC3 | c.3096C>A (p.Ile1032=) c.3078C>A (p.Ile1026=) c.3015C>A (p.Ile1005=) | gnomAD v4 |
| 11 | g.47333652A>C | CA380315172 | MYBPC3 | c.3095T>G (p.Ile1032Ser) c.3077T>G (p.Ile1026Ser) c.3014T>G (p.Ile1005Ser) | |
| 11 | g.47333652A>G | CA380315176 | MYBPC3 | c.3095T>C (p.Ile1032Thr) c.3077T>C (p.Ile1026Thr) c.3014T>C (p.Ile1005Thr) | ClinVar |
| 11 | g.47333652A>T | CA380315174 | MYBPC3 | c.3095T>A (p.Ile1032Asn) c.3077T>A (p.Ile1026Asn) c.3014T>A (p.Ile1005Asn) | |
| 11 | g.47333653T>A | CA380315180 | MYBPC3 | c.3094A>T (p.Ile1032Phe) c.3076A>T (p.Ile1026Phe) c.3013A>T (p.Ile1005Phe) | |
| 11 | g.47333653T>C | CA380315183 | MYBPC3 | c.3094A>G (p.Ile1032Val) c.3076A>G (p.Ile1026Val) c.3013A>G (p.Ile1005Val) | |
| 11 | g.47333653T>G | CA380315185 | MYBPC3 | c.3094A>C (p.Ile1032Leu) c.3076A>C (p.Ile1026Leu) c.3013A>C (p.Ile1005Leu) | |
| 11 | g.47333654G>A | CA474429235 | MYBPC3 | c.3093C>T (p.Phe1031=) c.3075C>T (p.Phe1025=) c.3012C>T (p.Phe1004=) | |
| 11 | g.47333654G>C | CA380315190 | MYBPC3 | c.3093C>G (p.Phe1031Leu) c.3075C>G (p.Phe1025Leu) c.3012C>G (p.Phe1004Leu) | |
| 11 | g.47333654G= | CA1969335866 | MYBPC3 | c.3093C= (p.Phe1031=) c.3075C= (p.Phe1025=) c.3012C= (p.Phe1004=) | |
| 11 | g.47333654G>T | CA380315192 | MYBPC3 | c.3093C>A (p.Phe1031Leu) c.3075C>A (p.Phe1025Leu) c.3012C>A (p.Phe1004Leu) | dbSNP gnomAD v4 |
| 11 | g.47333655A>C | CA380315197 | MYBPC3 | c.3092T>G (p.Phe1031Cys) c.3074T>G (p.Phe1025Cys) c.3011T>G (p.Phe1004Cys) | |
| 11 | g.47333655A>G | CA380315198 | MYBPC3 | c.3092T>C (p.Phe1031Ser) c.3074T>C (p.Phe1025Ser) c.3011T>C (p.Phe1004Ser) | |
| 11 | g.47333655A>T | CA380315194 | MYBPC3 | c.3092T>A (p.Phe1031Tyr) c.3074T>A (p.Phe1025Tyr) c.3011T>A (p.Phe1004Tyr) | |
| 11 | g.47333656A>C | CA380315199 | MYBPC3 | c.3091T>G (p.Phe1031Val) c.3073T>G (p.Phe1025Val) c.3010T>G (p.Phe1004Val) | |
| 11 | g.47333656A>G | CA380315200 | MYBPC3 | c.3091T>C (p.Phe1031Leu) c.3073T>C (p.Phe1025Leu) c.3010T>C (p.Phe1004Leu) | |
| 11 | g.47333656A>T | CA380315201 | MYBPC3 | c.3091T>A (p.Phe1031Ile) c.3073T>A (p.Phe1025Ile) c.3010T>A (p.Phe1004Ile) | |
| 11 | g.47333657C>A | CA079118 | MYBPC3 | c.3090G>T (p.Leu1030=) c.3072G>T (p.Leu1024=) c.3009G>T (p.Leu1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333657C= | CA1969335868 | MYBPC3 | c.3090G= (p.Leu1030=) c.3072G= (p.Leu1024=) c.3009G= (p.Leu1003=) | |
| 11 | g.47333657C>G | CA474429240 | MYBPC3 | c.3090G>C (p.Leu1030=) c.3072G>C (p.Leu1024=) c.3009G>C (p.Leu1003=) | gnomAD v4 |
| 11 | g.47333657C>T | CA079115 | MYBPC3 | c.3090G>A (p.Leu1030=) c.3072G>A (p.Leu1024=) c.3009G>A (p.Leu1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333658A= | CA1969335872 | MYBPC3 | c.3089T= (p.Leu1030=) c.3071T= (p.Leu1024=) c.3008T= (p.Leu1003=) | |
| 11 | g.47333658A>C | CA380315215 | MYBPC3 | c.3089T>G (p.Leu1030Arg) c.3071T>G (p.Leu1024Arg) c.3008T>G (p.Leu1003Arg) | |
| 11 | g.47333658A>G | CA013461 | MYBPC3 | c.3089T>C (p.Leu1030Pro) c.3071T>C (p.Leu1024Pro) c.3008T>C (p.Leu1003Pro) | ClinVar dbSNP |
| 11 | g.47333658A>T | CA380315217 | MYBPC3 | c.3089T>A (p.Leu1030Gln) c.3071T>A (p.Leu1024Gln) c.3008T>A (p.Leu1003Gln) | |
| 11 | g.47333659G>A | CA474429247 | MYBPC3 | c.3088C>T (p.Leu1030=) c.3070C>T (p.Leu1024=) c.3007C>T (p.Leu1003=) | dbSNP |
| 11 | g.47333659G>C | CA380315220 | MYBPC3 | c.3088C>G (p.Leu1030Val) c.3070C>G (p.Leu1024Val) c.3007C>G (p.Leu1003Val) | |
| 11 | g.47333659G= | CA1969335874 | MYBPC3 | c.3088C= (p.Leu1030=) c.3070C= (p.Leu1024=) c.3007C= (p.Leu1003=) | |
| 11 | g.47333659G>T | CA380315222 | MYBPC3 | c.3088C>A (p.Leu1030Met) c.3070C>A (p.Leu1024Met) c.3007C>A (p.Leu1003Met) | gnomAD v4 |
| 11 | g.47333660G>A | CA013444 | MYBPC3 | c.3087C>T (p.Ile1029=) c.3069C>T (p.Ile1023=) c.3006C>T (p.Ile1002=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333660G>C | CA380315224 | MYBPC3 | c.3087C>G (p.Ile1029Met) c.3069C>G (p.Ile1023Met) c.3006C>G (p.Ile1002Met) | |
| 11 | g.47333660G= | CA1969335877 | MYBPC3 | c.3087C= (p.Ile1029=) c.3069C= (p.Ile1023=) c.3006C= (p.Ile1002=) | |
| 11 | g.47333660G>T | CA474429249 | MYBPC3 | c.3087C>A (p.Ile1029=) c.3069C>A (p.Ile1023=) c.3006C>A (p.Ile1002=) | gnomAD v4 |
| 11 | g.47333661A= | CA1969335878 | MYBPC3 | c.3086T= (p.Ile1029=) c.3068T= (p.Ile1023=) c.3005T= (p.Ile1002=) | |
| 11 | g.47333661A>C | CA380315243 | MYBPC3 | c.3086T>G (p.Ile1029Ser) c.3068T>G (p.Ile1023Ser) c.3005T>G (p.Ile1002Ser) | |
| 11 | g.47333661A>G | CA380315239 | MYBPC3 | c.3086T>C (p.Ile1029Thr) c.3068T>C (p.Ile1023Thr) c.3005T>C (p.Ile1002Thr) | |
| 11 | g.47333661A>T | CA013434 | MYBPC3 | c.3086T>A (p.Ile1029Asn) c.3068T>A (p.Ile1023Asn) c.3005T>A (p.Ile1002Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333662T>A | CA380315247 | MYBPC3 | c.3085A>T (p.Ile1029Phe) c.3067A>T (p.Ile1023Phe) c.3004A>T (p.Ile1002Phe) | |
| 11 | g.47333662T>C | CA380315249 | MYBPC3 | c.3085A>G (p.Ile1029Val) c.3067A>G (p.Ile1023Val) c.3004A>G (p.Ile1002Val) | |
| 11 | g.47333662T>G | CA380315252 | MYBPC3 | c.3085A>C (p.Ile1029Leu) c.3067A>C (p.Ile1023Leu) c.3004A>C (p.Ile1002Leu) | |
| 11 | g.47333663G>A | CA474429253 | MYBPC3 | c.3084C>T (p.Thr1028=) c.3066C>T (p.Thr1022=) c.3003C>T (p.Thr1001=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333663G>C | CA474429252 | MYBPC3 | c.3084C>G (p.Thr1028=) c.3066C>G (p.Thr1022=) c.3003C>G (p.Thr1001=) | |
| 11 | g.47333663G= | CA1969335880 | MYBPC3 | c.3084C= (p.Thr1028=) c.3066C= (p.Thr1022=) c.3003C= (p.Thr1001=) | |
| 11 | g.47333663G>T | CA474429254 | MYBPC3 | c.3084C>A (p.Thr1028=) c.3066C>A (p.Thr1022=) c.3003C>A (p.Thr1001=) | dbSNP gnomAD v4 |
| 11 | g.47333664G>A | CA013426 | MYBPC3 | c.3083C>T (p.Thr1028Ile) c.3065C>T (p.Thr1022Ile) c.3002C>T (p.Thr1001Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333664G>C | CA013420 | MYBPC3 | c.3083C>G (p.Thr1028Ser) c.3065C>G (p.Thr1022Ser) c.3002C>G (p.Thr1001Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333664G= | CA1969335882 | MYBPC3 | c.3083C= (p.Thr1028=) c.3065C= (p.Thr1022=) c.3002C= (p.Thr1001=) | |
| 11 | g.47333664G>T | CA380315258 | MYBPC3 | c.3083C>A (p.Thr1028Asn) c.3065C>A (p.Thr1022Asn) c.3002C>A (p.Thr1001Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333665T>A | CA380315260 | MYBPC3 | c.3082A>T (p.Thr1028Ser) c.3064A>T (p.Thr1022Ser) c.3001A>T (p.Thr1001Ser) | |
| 11 | g.47333665T>C | CA380315262 | MYBPC3 | c.3082A>G (p.Thr1028Ala) c.3064A>G (p.Thr1022Ala) c.3001A>G (p.Thr1001Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333665T>G | CA380315264 | MYBPC3 | c.3082A>C (p.Thr1028Pro) c.3064A>C (p.Thr1022Pro) c.3001A>C (p.Thr1001Pro) | |
| 11 | g.47333665T= | CA1969335884 | MYBPC3 | c.3082A= (p.Thr1028=) c.3064A= (p.Thr1022=) c.3001A= (p.Thr1001=) | |
| 11 | g.47333666G>A | CA474429255 | MYBPC3 | c.3081C>T (p.Asp1027=) c.3063C>T (p.Asp1021=) c.3000C>T (p.Asp1000=) | dbSNP |
| 11 | g.47333666G>C | CA380315275 | MYBPC3 | c.3081C>G (p.Asp1027Glu) c.3063C>G (p.Asp1021Glu) c.3000C>G (p.Asp1000Glu) | |
| 11 | g.47333666G= | CA1969335886 | MYBPC3 | c.3081C= (p.Asp1027=) c.3063C= (p.Asp1021=) c.3000C= (p.Asp1000=) | |
| 11 | g.47333666G>T | CA380315279 | MYBPC3 | c.3081C>A (p.Asp1027Glu) c.3063C>A (p.Asp1021Glu) c.3000C>A (p.Asp1000Glu) | gnomAD v4 |
| 11 | g.47333667T>A | CA380315281 | MYBPC3 | c.3080A>T (p.Asp1027Val) c.3062A>T (p.Asp1021Val) c.2999A>T (p.Asp1000Val) | |
| 11 | g.47333667T>C | CA221682830 | MYBPC3 | c.3080A>G (p.Asp1027Gly) c.3062A>G (p.Asp1021Gly) c.2999A>G (p.Asp1000Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333667T>G | CA380315283 | MYBPC3 | c.3080A>C (p.Asp1027Ala) c.3062A>C (p.Asp1021Ala) c.2999A>C (p.Asp1000Ala) | |
| 11 | g.47333667T= | CA1969335888 | MYBPC3 | c.3080A= (p.Asp1027=) c.3062A= (p.Asp1021=) c.2999A= (p.Asp1000=) | |
| 11 | g.47333667dup | CA2613393995 | MYBPC3 | c.3080dup (p.Asp1027GlufsTer24) c.3062dup (p.Asp1021GlufsTer24) c.2999dup (p.Asp1000GlufsTer24) | gnomAD v4 |
| 11 | g.47333667_47333668delinsTC | CA1969335887 | MYBPC3 | c.3079_3080delinsGA (p.Asp1027=) c.3061_3062delinsGA (p.Asp1021=) c.2998_2999delinsGA (p.Asp1000=) | |
| 11 | g.47333668C>A | CA380315289 | MYBPC3 | c.3079G>T (p.Asp1027Tyr) c.3061G>T (p.Asp1021Tyr) c.2998G>T (p.Asp1000Tyr) | |
| 11 | g.47333668C= | CA1969335890 | MYBPC3 | c.3079G= (p.Asp1027=) c.3061G= (p.Asp1021=) c.2998G= (p.Asp1000=) | |
| 11 | g.47333668C>G | CA079113 | MYBPC3 | c.3079G>C (p.Asp1027His) c.3061G>C (p.Asp1021His) c.2998G>C (p.Asp1000His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333668C>T | CA380315286 | MYBPC3 | c.3079G>A (p.Asp1027Asn) c.3061G>A (p.Asp1021Asn) c.2998G>A (p.Asp1000Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333668delinsTT | CA296432 | MYBPC3 | c.3079delinsAA (p.Asp1027LysfsTer24) c.3061delinsAA (p.Asp1021LysfsTer24) c.2998delinsAA (p.Asp1000LysfsTer24) | ClinVar dbSNP |
| 11 | g.47333669T>A | CA474429256 | MYBPC3 | c.3078A>T (p.Thr1026=) c.3060A>T (p.Thr1020=) c.2997A>T (p.Thr999=) | |
| 11 | g.47333669T>C | CA474429257 | MYBPC3 | c.3078A>G (p.Thr1026=) c.3060A>G (p.Thr1020=) c.2997A>G (p.Thr999=) | gnomAD v4 |
| 11 | g.47333669T>G | CA474429258 | MYBPC3 | c.3078A>C (p.Thr1026=) c.3060A>C (p.Thr1020=) c.2997A>C (p.Thr999=) | |
| 11 | g.47333670G>A | CA380315291 | MYBPC3 | c.3077C>T (p.Thr1026Ile) c.3059C>T (p.Thr1020Ile) c.2996C>T (p.Thr999Ile) | ClinVar |
| 11 | g.47333670G>C | CA380315294 | MYBPC3 | c.3077C>G (p.Thr1026Arg) c.3059C>G (p.Thr1020Arg) c.2996C>G (p.Thr999Arg) | |
| 11 | g.47333670G>T | CA380315295 | MYBPC3 | c.3077C>A (p.Thr1026Lys) c.3059C>A (p.Thr1020Lys) c.2996C>A (p.Thr999Lys) | gnomAD v4 |
| 11 | g.47333671T>A | CA380315296 | MYBPC3 | c.3076A>T (p.Thr1026Ser) c.3058A>T (p.Thr1020Ser) c.2995A>T (p.Thr999Ser) | |
| 11 | g.47333671T>C | CA380315297 | MYBPC3 | c.3076A>G (p.Thr1026Ala) c.3058A>G (p.Thr1020Ala) c.2995A>G (p.Thr999Ala) | dbSNP |
| 11 | g.47333671T>G | CA380315298 | MYBPC3 | c.3076A>C (p.Thr1026Pro) c.3058A>C (p.Thr1020Pro) c.2995A>C (p.Thr999Pro) | |
| 11 | g.47333671T= | CA1969335893 | MYBPC3 | c.3076A= (p.Thr1026=) c.3058A= (p.Thr1020=) c.2995A= (p.Thr999=) | |
| 11 | g.47333672G>A | CA474429259 | MYBPC3 | c.3075C>T (p.Pro1025=) c.3057C>T (p.Pro1019=) c.2994C>T (p.Pro998=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333672G>C | CA474429260 | MYBPC3 | c.3075C>G (p.Pro1025=) c.3057C>G (p.Pro1019=) c.2994C>G (p.Pro998=) | |
| 11 | g.47333672G= | CA1969335895 | MYBPC3 | c.3075C= (p.Pro1025=) c.3057C= (p.Pro1019=) c.2994C= (p.Pro998=) | |
| 11 | g.47333672G>T | CA474429261 | MYBPC3 | c.3075C>A (p.Pro1025=) c.3057C>A (p.Pro1019=) c.2994C>A (p.Pro998=) | |
| 11 | g.47333673G>A | CA380315301 | MYBPC3 | c.3074C>T (p.Pro1025Leu) c.3056C>T (p.Pro1019Leu) c.2993C>T (p.Pro998Leu) | |
| 11 | g.47333673G>C | CA380315299 | MYBPC3 | c.3074C>G (p.Pro1025Arg) c.3056C>G (p.Pro1019Arg) c.2993C>G (p.Pro998Arg) | |
| 11 | g.47333673G>T | CA380315300 | MYBPC3 | c.3074C>A (p.Pro1025His) c.3056C>A (p.Pro1019His) c.2993C>A (p.Pro998His) | gnomAD v4 |
| 11 | g.47333674G>A | CA380315302 | MYBPC3 | c.3073C>T (p.Pro1025Ser) c.3055C>T (p.Pro1019Ser) c.2992C>T (p.Pro998Ser) | dbSNP |
| 11 | g.47333674G>C | CA380315303 | MYBPC3 | c.3073C>G (p.Pro1025Ala) c.3055C>G (p.Pro1019Ala) c.2992C>G (p.Pro998Ala) | |
| 11 | g.47333674G= | CA1969335897 | MYBPC3 | c.3073C= (p.Pro1025=) c.3055C= (p.Pro1019=) c.2992C= (p.Pro998=) | |
| 11 | g.47333674G>T | CA380315305 | MYBPC3 | c.3073C>A (p.Pro1025Thr) c.3055C>A (p.Pro1019Thr) c.2992C>A (p.Pro998Thr) | |
| 11 | g.47333675G>A | CA221682834 | MYBPC3 | c.3072C>T (p.Ser1024=) c.3054C>T (p.Ser1018=) c.2991C>T (p.Ser997=) | dbSNP gnomAD v4 |
| 11 | g.47333675G>C | CA380315307 | MYBPC3 | c.3072C>G (p.Ser1024Arg) c.3054C>G (p.Ser1018Arg) c.2991C>G (p.Ser997Arg) | ClinVar dbSNP |
| 11 | g.47333675G= | CA1969335899 | MYBPC3 | c.3072C= (p.Ser1024=) c.3054C= (p.Ser1018=) c.2991C= (p.Ser997=) | |
| 11 | g.47333675G>T | CA079110 | MYBPC3 | c.3072C>A (p.Ser1024Arg) c.3054C>A (p.Ser1018Arg) c.2991C>A (p.Ser997Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333676C>A | CA380315309 | MYBPC3 | c.3071G>T (p.Ser1024Ile) c.3053G>T (p.Ser1018Ile) c.2990G>T (p.Ser997Ile) | |
| 11 | g.47333676C>G | CA380315313 | MYBPC3 | c.3071G>C (p.Ser1024Thr) c.3053G>C (p.Ser1018Thr) c.2990G>C (p.Ser997Thr) | |
| 11 | g.47333676C>T | CA380315311 | MYBPC3 | c.3071G>A (p.Ser1024Asn) c.3053G>A (p.Ser1018Asn) c.2990G>A (p.Ser997Asn) | |
| 11 | g.47333677T>A | CA380315315 | MYBPC3 | c.3070A>T (p.Ser1024Cys) c.3052A>T (p.Ser1018Cys) c.2989A>T (p.Ser997Cys) | |
| 11 | g.47333677T>C | CA380315317 | MYBPC3 | c.3070A>G (p.Ser1024Gly) c.3052A>G (p.Ser1018Gly) c.2989A>G (p.Ser997Gly) | gnomAD v4 |
| 11 | g.47333677T>G | CA380315320 | MYBPC3 | c.3070A>C (p.Ser1024Arg) c.3052A>C (p.Ser1018Arg) c.2989A>C (p.Ser997Arg) | |
| 11 | g.47333678G>A | CA474429262 | MYBPC3 | c.3069C>T (p.Asn1023=) c.3051C>T (p.Asn1017=) c.2988C>T (p.Asn996=) | gnomAD v4 |
| 11 | g.47333678G>C | CA380315325 | MYBPC3 | c.3069C>G (p.Asn1023Lys) c.3051C>G (p.Asn1017Lys) c.2988C>G (p.Asn996Lys) | |
| 11 | g.47333678G= | CA1969335901 | MYBPC3 | c.3069C= (p.Asn1023=) c.3051C= (p.Asn1017=) c.2988C= (p.Asn996=) | |
| 11 | g.47333678G>T | CA052445 | MYBPC3 | c.3069C>A (p.Asn1023Lys) c.3051C>A (p.Asn1017Lys) c.2988C>A (p.Asn996Lys) | |
| 11 | g.47333679T>A | CA380315333 | MYBPC3 | c.3068A>T (p.Asn1023Ile) c.3050A>T (p.Asn1017Ile) c.2987A>T (p.Asn996Ile) | |
| 11 | g.47333679T>C | CA380315335 | MYBPC3 | c.3068A>G (p.Asn1023Ser) c.3050A>G (p.Asn1017Ser) c.2987A>G (p.Asn996Ser) | gnomAD v4 |
| 11 | g.47333679T>G | CA380315338 | MYBPC3 | c.3068A>C (p.Asn1023Thr) c.3050A>C (p.Asn1017Thr) c.2987A>C (p.Asn996Thr) | |
| 11 | g.47333680dup | CA013410 | MYBPC3 | c.3068dup (p.Asn1023LysfsTer28) c.3050dup (p.Asn1017LysfsTer28) c.2987dup (p.Asn996LysfsTer28) | ClinVar dbSNP |
| 11 | g.47333680T>A | CA380315340 | MYBPC3 | c.3067A>T (p.Asn1023Tyr) c.3049A>T (p.Asn1017Tyr) c.2986A>T (p.Asn996Tyr) | gnomAD v4 |
| 11 | g.47333680T>C | CA079109 | MYBPC3 | c.3067A>G (p.Asn1023Asp) c.3049A>G (p.Asn1017Asp) c.2986A>G (p.Asn996Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333680T>G | CA380315345 | MYBPC3 | c.3067A>C (p.Asn1023His) c.3049A>C (p.Asn1017His) c.2986A>C (p.Asn996His) | |
| 11 | g.47333680T= | CA1969335903 | MYBPC3 | c.3067A= (p.Asn1023=) c.3049A= (p.Asn1017=) c.2986A= (p.Asn996=) | |
| 11 | g.47333681G>A | CA474429263 | MYBPC3 | c.3066C>T (p.Arg1022=) c.3048C>T (p.Arg1016=) c.2985C>T (p.Arg995=) | |
| 11 | g.47333681G>C | CA474429264 | MYBPC3 | c.3066C>G (p.Arg1022=) c.3048C>G (p.Arg1016=) c.2985C>G (p.Arg995=) | |
| 11 | g.47333681G>T | CA474429265 | MYBPC3 | c.3066C>A (p.Arg1022=) c.3048C>A (p.Arg1016=) c.2985C>A (p.Arg995=) | |
| 11 | g.47333681dup | CA937666281 | MYBPC3 | c.3066dup (p.Asn1023GlnfsTer28) c.3048dup (p.Asn1017GlnfsTer28) c.2985dup (p.Asn996GlnfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333682C>A | CA380315348 | MYBPC3 | c.3065G>T (p.Arg1022Leu) c.3047G>T (p.Arg1016Leu) c.2984G>T (p.Arg995Leu) | gnomAD v4 |
| 11 | g.47333682C= | CA1969335906 | MYBPC3 | c.3065G= (p.Arg1022=) c.3047G= (p.Arg1016=) c.2984G= (p.Arg995=) | |
| 11 | g.47333682C>G | CA013405 | MYBPC3 | c.3065G>C (p.Arg1022Pro) c.3047G>C (p.Arg1016Pro) c.2984G>C (p.Arg995Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333682C>T | CA013397 | MYBPC3 | c.3065G>A (p.Arg1022His) c.3047G>A (p.Arg1016His) c.2984G>A (p.Arg995His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333683G>A | CA013388 | MYBPC3 | c.3064C>T (p.Arg1022Cys) c.3046C>T (p.Arg1016Cys) c.2983C>T (p.Arg995Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47333683G>C | CA380315355 | MYBPC3 | c.3064C>G (p.Arg1022Gly) c.3046C>G (p.Arg1016Gly) c.2983C>G (p.Arg995Gly) | |
| 11 | g.47333683G= | CA1969335908 | MYBPC3 | c.3064C= (p.Arg1022=) c.3046C= (p.Arg1016=) c.2983C= (p.Arg995=) | |
| 11 | g.47333683G>T | CA380315358 | MYBPC3 | c.3064C>A (p.Arg1022Ser) c.3046C>A (p.Arg1016Ser) c.2983C>A (p.Arg995Ser) | ClinVar gnomAD v4 |
| 11 | g.47333684G>A | CA474429266 | MYBPC3 | c.3063C>T (p.Ile1021=) c.3045C>T (p.Ile1015=) c.2982C>T (p.Ile994=) | |
| 11 | g.47333684G>C | CA380315361 | MYBPC3 | c.3063C>G (p.Ile1021Met) c.3045C>G (p.Ile1015Met) c.2982C>G (p.Ile994Met) | |
| 11 | g.47333684G>T | CA474429267 | MYBPC3 | c.3063C>A (p.Ile1021=) c.3045C>A (p.Ile1015=) c.2982C>A (p.Ile994=) | gnomAD v4 |
| 11 | g.47333685A>C | CA380315363 | MYBPC3 | c.3062T>G (p.Ile1021Ser) c.3044T>G (p.Ile1015Ser) c.2981T>G (p.Ile994Ser) | |
| 11 | g.47333685A>G | CA380315365 | MYBPC3 | c.3062T>C (p.Ile1021Thr) c.3044T>C (p.Ile1015Thr) c.2981T>C (p.Ile994Thr) | gnomAD v4 |
| 11 | g.47333685A>T | CA380315370 | MYBPC3 | c.3062T>A (p.Ile1021Asn) c.3044T>A (p.Ile1015Asn) c.2981T>A (p.Ile994Asn) | |
| 11 | g.47333686T>A | CA380315377 | MYBPC3 | c.3061A>T (p.Ile1021Phe) c.3043A>T (p.Ile1015Phe) c.2980A>T (p.Ile994Phe) | |
| 11 | g.47333686T>C | CA380315373 | MYBPC3 | c.3061A>G (p.Ile1021Val) c.3043A>G (p.Ile1015Val) c.2980A>G (p.Ile994Val) | |
| 11 | g.47333686T>G | CA380315375 | MYBPC3 | c.3061A>C (p.Ile1021Leu) c.3043A>C (p.Ile1015Leu) c.2980A>C (p.Ile994Leu) | |
| 11 | g.47333687G>A | CA474429268 | MYBPC3 | c.3060C>T (p.Ser1020=) c.3042C>T (p.Ser1014=) c.2979C>T (p.Ser993=) | gnomAD v4 |
| 11 | g.47333687G>C | CA380315380 | MYBPC3 | c.3060C>G (p.Ser1020Arg) c.3042C>G (p.Ser1014Arg) c.2979C>G (p.Ser993Arg) | |
| 11 | g.47333687G>T | CA380315382 | MYBPC3 | c.3060C>A (p.Ser1020Arg) c.3042C>A (p.Ser1014Arg) c.2979C>A (p.Ser993Arg) | |
| 11 | g.47333688C>A | CA380315385 | MYBPC3 | c.3059G>T (p.Ser1020Ile) c.3041G>T (p.Ser1014Ile) c.2978G>T (p.Ser993Ile) | |
| 11 | g.47333688C>G | CA380315386 | MYBPC3 | c.3059G>C (p.Ser1020Thr) c.3041G>C (p.Ser1014Thr) c.2978G>C (p.Ser993Thr) | |
| 11 | g.47333688C>T | CA380315387 | MYBPC3 | c.3059G>A (p.Ser1020Asn) c.3041G>A (p.Ser1014Asn) c.2978G>A (p.Ser993Asn) | gnomAD v4 |
| 11 | g.47333689T>A | CA380315388 | MYBPC3 | c.3058A>T (p.Ser1020Cys) c.3040A>T (p.Ser1014Cys) c.2977A>T (p.Ser993Cys) | |
| 11 | g.47333689T>C | CA380315391 | MYBPC3 | c.3058A>G (p.Ser1020Gly) c.3040A>G (p.Ser1014Gly) c.2977A>G (p.Ser993Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333689T>G | CA380315389 | MYBPC3 | c.3058A>C (p.Ser1020Arg) c.3040A>C (p.Ser1014Arg) c.2977A>C (p.Ser993Arg) | |
| 11 | g.47333689T= | CA1969335911 | MYBPC3 | c.3058A= (p.Ser1020=) c.3040A= (p.Ser1014=) c.2977A= (p.Ser993=) | |
| 11 | g.47333690C>A | CA474429269 | MYBPC3 | c.3057G>T (p.Val1019=) c.3039G>T (p.Val1013=) c.2976G>T (p.Val992=) | gnomAD v4 |
| 11 | g.47333690C= | CA1969335912 | MYBPC3 | c.3057G= (p.Val1019=) c.3039G= (p.Val1013=) c.2976G= (p.Val992=) | |
| 11 | g.47333690C>G | CA079103 | MYBPC3 | c.3057G>C (p.Val1019=) c.3039G>C (p.Val1013=) c.2976G>C (p.Val992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333690C>T | CA16606313 | MYBPC3 | c.3057G>A (p.Val1019=) c.3039G>A (p.Val1013=) c.2976G>A (p.Val992=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333691A= | CA1969335914 | MYBPC3 | c.3056T= (p.Val1019=) c.3038T= (p.Val1013=) c.2975T= (p.Val992=) | |
| 11 | g.47333691A>C | CA380315393 | MYBPC3 | c.3056T>G (p.Val1019Gly) c.3038T>G (p.Val1013Gly) c.2975T>G (p.Val992Gly) | dbSNP |
| 11 | g.47333691A>G | CA380315404 | MYBPC3 | c.3056T>C (p.Val1019Ala) c.3038T>C (p.Val1013Ala) c.2975T>C (p.Val992Ala) | |
| 11 | g.47333691A>T | CA380315407 | MYBPC3 | c.3056T>A (p.Val1019Glu) c.3038T>A (p.Val1013Glu) c.2975T>A (p.Val992Glu) | |
| 11 | g.47333692C>A | CA380315410 | MYBPC3 | c.3055G>T (p.Val1019Leu) c.3037G>T (p.Val1013Leu) c.2974G>T (p.Val992Leu) | |
| 11 | g.47333692C>G | CA380315413 | MYBPC3 | c.3055G>C (p.Val1019Leu) c.3037G>C (p.Val1013Leu) c.2974G>C (p.Val992Leu) | |
| 11 | g.47333692C>T | CA380315415 | MYBPC3 | c.3055G>A (p.Val1019Met) c.3037G>A (p.Val1013Met) c.2974G>A (p.Val992Met) | |
| 11 | g.47333693C>A | CA380315418 | MYBPC3 | c.3054G>T (p.Glu1018Asp) c.3036G>T (p.Glu1012Asp) c.2973G>T (p.Glu991Asp) | gnomAD v4 |
| 11 | g.47333693C>G | CA052383 | MYBPC3 | c.3054G>C (p.Glu1018Asp) c.3036G>C (p.Glu1012Asp) c.2973G>C (p.Glu991Asp) | |
| 11 | g.47333693C>T | CA474429270 | MYBPC3 | c.3054G>A (p.Glu1018=) c.3036G>A (p.Glu1012=) c.2973G>A (p.Glu991=) | |
| 11 | g.47333694T>A | CA380315424 | MYBPC3 | c.3053A>T (p.Glu1018Val) c.3035A>T (p.Glu1012Val) c.2972A>T (p.Glu991Val) | |
| 11 | g.47333694T>C | CA380315430 | MYBPC3 | c.3053A>G (p.Glu1018Gly) c.3035A>G (p.Glu1012Gly) c.2972A>G (p.Glu991Gly) | |
| 11 | g.47333694T>G | CA380315433 | MYBPC3 | c.3053A>C (p.Glu1018Ala) c.3035A>C (p.Glu1012Ala) c.2972A>C (p.Glu991Ala) | |
| 11 | g.47333695C>A | CA380315437 | MYBPC3 | c.3052G>T (p.Glu1018Ter) c.3034G>T (p.Glu1012Ter) c.2971G>T (p.Glu991Ter) | |
| 11 | g.47333695C= | CA1969335917 | MYBPC3 | c.3052G= (p.Glu1018=) c.3034G= (p.Glu1012=) c.2971G= (p.Glu991=) | |
| 11 | g.47333695C>G | CA079101 | MYBPC3 | c.3052G>C (p.Glu1018Gln) c.3034G>C (p.Glu1012Gln) c.2971G>C (p.Glu991Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333695C>T | CA380315440 | MYBPC3 | c.3052G>A (p.Glu1018Lys) c.3034G>A (p.Glu1012Lys) c.2971G>A (p.Glu991Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333696C>A | CA380315448 | MYBPC3 | c.3051G>T (p.Glu1017Asp) c.3033G>T (p.Glu1011Asp) c.2970G>T (p.Glu990Asp) | |
| 11 | g.47333696C= | CA1969335919 | MYBPC3 | c.3051G= (p.Glu1017=) c.3033G= (p.Glu1011=) c.2970G= (p.Glu990=) | |
| 11 | g.47333696C>G | CA380315450 | MYBPC3 | c.3051G>C (p.Glu1017Asp) c.3033G>C (p.Glu1011Asp) c.2970G>C (p.Glu990Asp) | |
| 11 | g.47333696C>T | CA079099 | MYBPC3 | c.3051G>A (p.Glu1017=) c.3033G>A (p.Glu1011=) c.2970G>A (p.Glu990=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333698_47333720del | CA2695213944 | MYBPC3 | c.3029_3051del (p.Glu1010GlyfsTer?) c.3011_3033del (p.Glu1004GlyfsTer?) c.2948_2970del (p.Glu983GlyfsTer?) | |
| 11 | g.47333697T>A | CA380315453 | MYBPC3 | c.3050A>T (p.Glu1017Val) c.3032A>T (p.Glu1011Val) c.2969A>T (p.Glu990Val) | |
| 11 | g.47333697T>C | CA380315457 | MYBPC3 | c.3050A>G (p.Glu1017Gly) c.3032A>G (p.Glu1011Gly) c.2969A>G (p.Glu990Gly) | |
| 11 | g.47333697T>G | CA380315460 | MYBPC3 | c.3050A>C (p.Glu1017Ala) c.3032A>C (p.Glu1011Ala) c.2969A>C (p.Glu990Ala) | |
| 11 | g.47333697_47333698insG | CA2695213945 | MYBPC3 | c.3049_3050insC (p.Glu1017AlafsTer?) c.3031_3032insC (p.Glu1011AlafsTer?) c.2968_2969insC (p.Glu990AlafsTer?) | |
| 11 | g.47333698C>A | CA380315464 | MYBPC3 | c.3049G>T (p.Glu1017Ter) c.3031G>T (p.Glu1011Ter) c.2968G>T (p.Glu990Ter) | |
| 11 | g.47333698C= | CA1969335921 | MYBPC3 | c.3049G= (p.Glu1017=) c.3031G= (p.Glu1011=) c.2968G= (p.Glu990=) | |
| 11 | g.47333698C>G | CA052376 | MYBPC3 | c.3049G>C (p.Glu1017Gln) c.3031G>C (p.Glu1011Gln) c.2968G>C (p.Glu990Gln) | |
| 11 | g.47333698C>T | CA013374 | MYBPC3 | c.3049G>A (p.Glu1017Lys) c.3031G>A (p.Glu1011Lys) c.2968G>A (p.Glu990Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333699G>A | CA013366 | MYBPC3 | c.3048C>T (p.Gly1016=) c.3030C>T (p.Gly1010=) c.2967C>T (p.Gly989=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333699G>C | CA474429271 | MYBPC3 | c.3048C>G (p.Gly1016=) c.3030C>G (p.Gly1010=) c.2967C>G (p.Gly989=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333699G= | CA1969335925 | MYBPC3 | c.3048C= (p.Gly1016=) c.3030C= (p.Gly1010=) c.2967C= (p.Gly989=) | |
| 11 | g.47333699G>T | CA221682873 | MYBPC3 | c.3048C>A (p.Gly1016=) c.3030C>A (p.Gly1010=) c.2967C>A (p.Gly989=) | dbSNP |
| 11 | g.47333699_47333700insGAG | CA2613394061 | MYBPC3 | c.3048_3049insTCC (p.Gly1016_Glu1017insSer) c.3030_3031insTCC (p.Gly1010_Glu1011insSer) c.2967_2968insTCC (p.Gly989_Glu990insSer) | gnomAD v4 |
| 11 | g.47333699dup | CA2695213946 | MYBPC3 | c.3048dup (p.Glu1017ArgfsTer?) c.3030dup (p.Glu1011ArgfsTer?) c.2967dup (p.Glu990ArgfsTer?) | |
| 11 | g.47333700C>A | CA380315471 | MYBPC3 | c.3047G>T (p.Gly1016Val) c.3029G>T (p.Gly1010Val) c.2966G>T (p.Gly989Val) | |
| 11 | g.47333700C>G | CA380315473 | MYBPC3 | c.3047G>C (p.Gly1016Ala) c.3029G>C (p.Gly1010Ala) c.2966G>C (p.Gly989Ala) | |
| 11 | g.47333700C>T | CA380315475 | MYBPC3 | c.3047G>A (p.Gly1016Asp) c.3029G>A (p.Gly1010Asp) c.2966G>A (p.Gly989Asp) | gnomAD v4 |
| 11 | g.47333701C>A | CA380315477 | MYBPC3 | c.3046G>T (p.Gly1016Cys) c.3028G>T (p.Gly1010Cys) c.2965G>T (p.Gly989Cys) | |
| 11 | g.47333701C>G | CA380315481 | MYBPC3 | c.3046G>C (p.Gly1016Arg) c.3028G>C (p.Gly1010Arg) c.2965G>C (p.Gly989Arg) | |
| 11 | g.47333701C>T | CA052359 | MYBPC3 | c.3046G>A (p.Gly1016Ser) c.3028G>A (p.Gly1010Ser) c.2965G>A (p.Gly989Ser) | |
| 11 | g.47333702T>A | CA474429272 | MYBPC3 | c.3045A>T (p.Ala1015=) c.3027A>T (p.Ala1009=) c.2964A>T (p.Ala988=) | |
| 11 | g.47333702T>C | CA474429273 | MYBPC3 | c.3045A>G (p.Ala1015=) c.3027A>G (p.Ala1009=) c.2964A>G (p.Ala988=) | |
| 11 | g.47333702T>G | CA474429274 | MYBPC3 | c.3045A>C (p.Ala1015=) c.3027A>C (p.Ala1009=) c.2964A>C (p.Ala988=) | |
| 11 | g.47333703G>A | CA380315484 | MYBPC3 | c.3044C>T (p.Ala1015Val) c.3026C>T (p.Ala1009Val) c.2963C>T (p.Ala988Val) | ClinVar dbSNP |
| 11 | g.47333703G>C | CA380315487 | MYBPC3 | c.3044C>G (p.Ala1015Gly) c.3026C>G (p.Ala1009Gly) c.2963C>G (p.Ala988Gly) | |
| 11 | g.47333703G= | CA1969335926 | MYBPC3 | c.3044C= (p.Ala1015=) c.3026C= (p.Ala1009=) c.2963C= (p.Ala988=) | |
| 11 | g.47333703G>T | CA380315490 | MYBPC3 | c.3044C>A (p.Ala1015Glu) c.3026C>A (p.Ala1009Glu) c.2963C>A (p.Ala988Glu) | gnomAD v4 |
| 11 | g.47333704C>A | CA380315495 | MYBPC3 | c.3043G>T (p.Ala1015Ser) c.3025G>T (p.Ala1009Ser) c.2962G>T (p.Ala988Ser) | |
| 11 | g.47333704C= | CA1969335928 | MYBPC3 | c.3043G= (p.Ala1015=) c.3025G= (p.Ala1009=) c.2962G= (p.Ala988=) | |
| 11 | g.47333704C>G | CA380315497 | MYBPC3 | c.3043G>C (p.Ala1015Pro) c.3025G>C (p.Ala1009Pro) c.2962G>C (p.Ala988Pro) | |
| 11 | g.47333704C>T | CA079094 | MYBPC3 | c.3043G>A (p.Ala1015Thr) c.3025G>A (p.Ala1009Thr) c.2962G>A (p.Ala988Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.47333705dup | CA351856 | MYBPC3 | c.3043dup (p.Ala1015GlyfsTer?) c.3025dup (p.Ala1009GlyfsTer?) c.2962dup (p.Ala988GlyfsTer?) | ClinVar dbSNP |
| 11 | g.47333705del | CA2791331120 | MYBPC3 | c.3043del (p.Ala1015GlnfsTer5) c.3025del (p.Ala1009GlnfsTer5) c.2962del (p.Ala988GlnfsTer5) | |
| 11 | g.47333705C>A | CA474429276 | MYBPC3 | c.3042G>T (p.Leu1014=) c.3024G>T (p.Leu1008=) c.2961G>T (p.Leu987=) | |
| 11 | g.47333705C>G | CA474429275 | MYBPC3 | c.3042G>C (p.Leu1014=) c.3024G>C (p.Leu1008=) c.2961G>C (p.Leu987=) | |
| 11 | g.47333705C>T | CA474429277 | MYBPC3 | c.3042G>A (p.Leu1014=) c.3024G>A (p.Leu1008=) c.2961G>A (p.Leu987=) | |
| 11 | g.47333706del | CA2695213947 | MYBPC3 | c.3041del (p.Leu1014ArgfsTer6) c.3023del (p.Leu1008ArgfsTer6) c.2960del (p.Leu987ArgfsTer6) | |
| 11 | g.47333706A>C | CA380315503 | MYBPC3 | c.3041T>G (p.Leu1014Arg) c.3023T>G (p.Leu1008Arg) c.2960T>G (p.Leu987Arg) | |
| 11 | g.47333706A>G | CA380315504 | MYBPC3 | c.3041T>C (p.Leu1014Pro) c.3023T>C (p.Leu1008Pro) c.2960T>C (p.Leu987Pro) | |
| 11 | g.47333706A>T | CA380315506 | MYBPC3 | c.3041T>A (p.Leu1014Gln) c.3023T>A (p.Leu1008Gln) c.2960T>A (p.Leu987Gln) | |
| 11 | g.47333706_47333707delinsAG | CA1969335930 | MYBPC3 | c.3040_3041delinsCT (p.Leu1014=) c.3022_3023delinsCT (p.Leu1008=) c.2959_2960delinsCT (p.Leu987=) |