UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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 | ClinVar |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | ClinVar |
| 11 | g.47333596_47333810delinsGGCCTGGTA | CA2697548544 | MYBPC3 | c.2995-58_3151delinsTACCAGGCC c.2977-58_3133delinsTACCAGGCC c.2914-58_3070delinsTACCAGGCC | ClinVar |
| 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=) |