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 | |
| 11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | |
| 11 | g.47333552_47333565delinsCGCACCAACAACCT | CA1969335622 | MYBPC3 | c.3182_3190+5delinsAGGTTGTTGGTGCG c.3164_3172+5delinsAGGTTGTTGGTGCG c.3101_3109+5delinsAGGTTGTTGGTGCG | |
| 11 | g.47333556_47333568del | CA296495 | MYBPC3 | c.3182_3190+4del c.3164_3172+4del c.3101_3109+4del | ClinVar dbSNP |
| 11 | g.47333556C>A | CA380314598 | MYBPC3 | c.3190+1G>T (n.3190+1G>T) c.3172+1G>T (n.3172+1G>T) c.3109+1G>T (n.3109+1G>T) | ClinVar gnomAD v4 |
| 11 | g.47333556C= | CA1969335658 | MYBPC3 | c.3190+1G= (n.3190+1G=) c.3172+1G= (n.3172+1G=) c.3109+1G= (n.3109+1G=) | |
| 11 | g.47333556C>G | CA221682709 | MYBPC3 | c.3190+1G>C (n.3190+1G>C) c.3172+1G>C (n.3172+1G>C) c.3109+1G>C (n.3109+1G>C) | dbSNP |
| 11 | g.47333556C>T | CA013610 | MYBPC3 | c.3190+1G>A (n.3190+1G>A) c.3172+1G>A (n.3172+1G>A) c.3109+1G>A (n.3109+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333557del | CA2573146369 | MYBPC3 | c.3190+1del c.3172+1del c.3109+1del | ClinVar dbSNP |
| 11 | g.47333556_47333559delinsCCAA | CA1969335655 | MYBPC3 | c.3188_3190+1delinsTTGG c.3170_3172+1delinsTTGG c.3107_3109+1delinsTTGG | |
| 11 | g.47333557C>A | CA380314601 | MYBPC3 | c.3190G>T (p.Asp1064Tyr) c.3172G>T (p.Asp1058Tyr) c.3109G>T (p.Asp1037Tyr) | |
| 11 | g.47333557C= | CA1969335666 | MYBPC3 | c.3190G= (p.Asp1064=) c.3172G= (p.Asp1058=) c.3109G= (p.Asp1037=) | |
| 11 | g.47333557C>G | CA380314603 | MYBPC3 | c.3190G>C (p.Asp1064His) c.3172G>C (p.Asp1058His) c.3109G>C (p.Asp1037His) | |
| 11 | g.47333557C>T | CA013646 | MYBPC3 | c.3190G>A (p.Asp1064Asn) c.3172G>A (p.Asp1058Asn) c.3109G>A (p.Asp1037Asn) | ClinVar dbSNP |
| 11 | g.47333561_47333563del | CA915940864 | MYBPC3 | c.3188_3190del (p.Val1063del) c.3170_3172del (p.Val1057del) c.3107_3109del (p.Val1036del) | ClinVar dbSNP |
| 11 | g.47333558A>C | CA052873 | MYBPC3 | c.3189T>G (p.Val1063=) c.3171T>G (p.Val1057=) c.3108T>G (p.Val1036=) | |
| 11 | g.47333558A>G | CA474212258 | MYBPC3 | c.3189T>C (p.Val1063=) c.3171T>C (p.Val1057=) c.3108T>C (p.Val1036=) | |
| 11 | g.47333558A>T | CA474212259 | MYBPC3 | c.3189T>A (p.Val1063=) c.3171T>A (p.Val1057=) c.3108T>A (p.Val1036=) | |
| 11 | g.47333559A= | CA1969335676 | MYBPC3 | c.3188T= (p.Val1063=) c.3170T= (p.Val1057=) c.3107T= (p.Val1036=) | |
| 11 | g.47333559A>C | CA380314607 | MYBPC3 | c.3188T>G (p.Val1063Gly) c.3170T>G (p.Val1057Gly) c.3107T>G (p.Val1036Gly) | ClinVar |
| 11 | g.47333559A>G | CA221682718 | MYBPC3 | c.3188T>C (p.Val1063Ala) c.3170T>C (p.Val1057Ala) c.3107T>C (p.Val1036Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333559A>T | CA380314609 | MYBPC3 | c.3188T>A (p.Val1063Asp) c.3170T>A (p.Val1057Asp) c.3107T>A (p.Val1036Asp) | |
| 11 | g.47333560C>A | CA380314610 | MYBPC3 | c.3187G>T (p.Val1063Phe) c.3169G>T (p.Val1057Phe) c.3106G>T (p.Val1036Phe) | |
| 11 | g.47333560C>G | CA380314612 | MYBPC3 | c.3187G>C (p.Val1063Leu) c.3169G>C (p.Val1057Leu) c.3106G>C (p.Val1036Leu) | |
| 11 | g.47333560C>T | CA380314613 | MYBPC3 | c.3187G>A (p.Val1063Ile) c.3169G>A (p.Val1057Ile) c.3106G>A (p.Val1036Ile) | gnomAD v4 |
| 11 | g.47333561A>C | CA474212261 | MYBPC3 | c.3186T>G (p.Val1062=) c.3168T>G (p.Val1056=) c.3105T>G (p.Val1035=) | |
| 11 | g.47333561A>G | CA474212262 | MYBPC3 | c.3186T>C (p.Val1062=) c.3168T>C (p.Val1056=) c.3105T>C (p.Val1035=) | |
| 11 | g.47333561A>T | CA474212263 | MYBPC3 | c.3186T>A (p.Val1062=) c.3168T>A (p.Val1056=) c.3105T>A (p.Val1035=) | |
| 11 | g.47333562A= | CA1969335681 | MYBPC3 | c.3185T= (p.Val1062=) c.3167T= (p.Val1056=) c.3104T= (p.Val1035=) | |
| 11 | g.47333562A>C | CA380314617 | MYBPC3 | c.3185T>G (p.Val1062Gly) c.3167T>G (p.Val1056Gly) c.3104T>G (p.Val1035Gly) | |
| 11 | g.47333562A>G | CA380314622 | MYBPC3 | c.3185T>C (p.Val1062Ala) c.3167T>C (p.Val1056Ala) c.3104T>C (p.Val1035Ala) | ClinVar |
| 11 | g.47333562A>T | CA380314620 | MYBPC3 | c.3185T>A (p.Val1062Asp) c.3167T>A (p.Val1056Asp) c.3104T>A (p.Val1035Asp) | dbSNP |
| 11 | g.47333562_47333563delinsAC | CA1969335683 | MYBPC3 | c.3184_3185delinsGT (p.Val1062=) c.3166_3167delinsGT (p.Val1056=) c.3103_3104delinsGT (p.Val1035=) | |
| 11 | g.47333563C>A | CA380314625 | MYBPC3 | c.3184G>T (p.Val1062Phe) c.3166G>T (p.Val1056Phe) c.3103G>T (p.Val1035Phe) | |
| 11 | g.47333563C>G | CA380314627 | MYBPC3 | c.3184G>C (p.Val1062Leu) c.3166G>C (p.Val1056Leu) c.3103G>C (p.Val1035Leu) | |
| 11 | g.47333563C>T | CA053019 | MYBPC3 | c.3184G>A (p.Val1062Ile) c.3166G>A (p.Val1056Ile) c.3103G>A (p.Val1035Ile) | |
| 11 | g.47333564del | CA915948130 | MYBPC3 | c.3184del (p.Val1062LeufsTer13) c.3166del (p.Val1056LeufsTer13) c.3103del (p.Val1035LeufsTer13) | ClinVar dbSNP |
| 11 | g.47333563_47333567dup | CA2695213935 | MYBPC3 | c.3180_3184dup (p.Val1062GlyfsTer15) c.3162_3166dup (p.Val1056GlyfsTer15) c.3099_3103dup (p.Val1035GlyfsTer15) | |
| 11 | g.47333564C>A | CA380314628 | MYBPC3 | c.3183G>T (p.Gln1061His) c.3165G>T (p.Gln1055His) c.3102G>T (p.Gln1034His) | |
| 11 | g.47333564C>G | CA380314630 | MYBPC3 | c.3183G>C (p.Gln1061His) c.3165G>C (p.Gln1055His) c.3102G>C (p.Gln1034His) | ClinVar |
| 11 | g.47333564C>T | CA474212265 | MYBPC3 | c.3183G>A (p.Gln1061=) c.3165G>A (p.Gln1055=) c.3102G>A (p.Gln1034=) | gnomAD v4 |
| 11 | g.47333565T>A | CA380314633 | MYBPC3 | c.3182A>T (p.Gln1061Leu) c.3164A>T (p.Gln1055Leu) c.3101A>T (p.Gln1034Leu) | |
| 11 | g.47333565T>C | CA380314635 | MYBPC3 | c.3182A>G (p.Gln1061Arg) c.3164A>G (p.Gln1055Arg) c.3101A>G (p.Gln1034Arg) | |
| 11 | g.47333565T>G | CA380314637 | MYBPC3 | c.3182A>C (p.Gln1061Pro) c.3164A>C (p.Gln1055Pro) c.3101A>C (p.Gln1034Pro) | ClinVar |
| 11 | g.47333566G>A | CA013596 | MYBPC3 | c.3181C>T (p.Gln1061Ter) c.3163C>T (p.Gln1055Ter) c.3100C>T (p.Gln1034Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333566G>C | CA380314641 | MYBPC3 | c.3181C>G (p.Gln1061Glu) c.3163C>G (p.Gln1055Glu) c.3100C>G (p.Gln1034Glu) | |
| 11 | g.47333566G= | CA1969335689 | MYBPC3 | c.3181C= (p.Gln1061=) c.3163C= (p.Gln1055=) c.3100C= (p.Gln1034=) | |
| 11 | g.47333566G>T | CA380314643 | MYBPC3 | c.3181C>A (p.Gln1061Lys) c.3163C>A (p.Gln1055Lys) c.3100C>A (p.Gln1034Lys) | |
| 11 | g.47333567C>A | CA474212268 | MYBPC3 | c.3180G>T (p.Leu1060=) c.3162G>T (p.Leu1054=) c.3099G>T (p.Leu1033=) | dbSNP |
| 11 | g.47333567C= | CA1969335695 | MYBPC3 | c.3180G= (p.Leu1060=) c.3162G= (p.Leu1054=) c.3099G= (p.Leu1033=) | |
| 11 | g.47333567C>G | CA474212270 | MYBPC3 | c.3180G>C (p.Leu1060=) c.3162G>C (p.Leu1054=) c.3099G>C (p.Leu1033=) | |
| 11 | g.47333567C>T | CA474212271 | MYBPC3 | c.3180G>A (p.Leu1060=) c.3162G>A (p.Leu1054=) c.3099G>A (p.Leu1033=) | gnomAD v4 |
| 11 | g.47333567_47333568delinsCA | CA1969335696 | MYBPC3 | c.3179_3180delinsTG (p.Leu1060=) c.3161_3162delinsTG (p.Leu1054=) c.3098_3099delinsTG (p.Leu1033=) | |
| 11 | g.47333568del | CA599374322 | MYBPC3 | c.3179del (p.Leu1060ArgfsTer15) c.3161del (p.Leu1054ArgfsTer15) c.3098del (p.Leu1033ArgfsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333568A>C | CA380314646 | MYBPC3 | c.3179T>G (p.Leu1060Arg) c.3161T>G (p.Leu1054Arg) c.3098T>G (p.Leu1033Arg) | |
| 11 | g.47333568A>G | CA380314649 | MYBPC3 | c.3179T>C (p.Leu1060Pro) c.3161T>C (p.Leu1054Pro) c.3098T>C (p.Leu1033Pro) | |
| 11 | g.47333568A>T | CA380314651 | MYBPC3 | c.3179T>A (p.Leu1060Gln) c.3161T>A (p.Leu1054Gln) c.3098T>A (p.Leu1033Gln) | |
| 11 | g.47333569G>A | CA052852 | MYBPC3 | c.3178C>T (p.Leu1060=) c.3160C>T (p.Leu1054=) c.3097C>T (p.Leu1033=) | |
| 11 | g.47333569G>C | CA380314654 | MYBPC3 | c.3178C>G (p.Leu1060Val) c.3160C>G (p.Leu1054Val) c.3097C>G (p.Leu1033Val) | dbSNP gnomAD v4 |
| 11 | g.47333569G= | CA1969335704 | MYBPC3 | c.3178C= (p.Leu1060=) c.3160C= (p.Leu1054=) c.3097C= (p.Leu1033=) | |
| 11 | g.47333569G>T | CA380314656 | MYBPC3 | c.3178C>A (p.Leu1060Met) c.3160C>A (p.Leu1054Met) c.3097C>A (p.Leu1033Met) | |
| 11 | g.47333570C>A | CA474212273 | MYBPC3 | c.3177G>T (p.Val1059=) c.3159G>T (p.Val1053=) c.3096G>T (p.Val1032=) | |
| 11 | g.47333570C= | CA1969335708 | MYBPC3 | c.3177G= (p.Val1059=) c.3159G= (p.Val1053=) c.3096G= (p.Val1032=) | |
| 11 | g.47333570C>G | CA474212274 | MYBPC3 | c.3177G>C (p.Val1059=) c.3159G>C (p.Val1053=) c.3096G>C (p.Val1032=) | dbSNP |
| 11 | g.47333570C>T | CA474212275 | MYBPC3 | c.3177G>A (p.Val1059=) c.3159G>A (p.Val1053=) c.3096G>A (p.Val1032=) | |
| 11 | g.47333571A>C | CA380314659 | MYBPC3 | c.3176T>G (p.Val1059Gly) c.3158T>G (p.Val1053Gly) c.3095T>G (p.Val1032Gly) | |
| 11 | g.47333571A>G | CA380314660 | MYBPC3 | c.3176T>C (p.Val1059Ala) c.3158T>C (p.Val1053Ala) c.3095T>C (p.Val1032Ala) | |
| 11 | g.47333571A>T | CA380314663 | MYBPC3 | c.3176T>A (p.Val1059Glu) c.3158T>A (p.Val1053Glu) c.3095T>A (p.Val1032Glu) | |
| 11 | g.47333572C>A | CA380314665 | MYBPC3 | c.3175G>T (p.Val1059Leu) c.3157G>T (p.Val1053Leu) c.3094G>T (p.Val1032Leu) | |
| 11 | g.47333572C= | CA1969335714 | MYBPC3 | c.3175G= (p.Val1059=) c.3157G= (p.Val1053=) c.3094G= (p.Val1032=) | |
| 11 | g.47333572C>G | CA079183 | MYBPC3 | c.3175G>C (p.Val1059Leu) c.3157G>C (p.Val1053Leu) c.3094G>C (p.Val1032Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333572C>T | CA380314670 | MYBPC3 | c.3175G>A (p.Val1059Met) c.3157G>A (p.Val1053Met) c.3094G>A (p.Val1032Met) | ClinVar dbSNP |
| 11 | g.47333573C>A | CA474212277 | MYBPC3 | c.3174G>T (p.Leu1058=) c.3156G>T (p.Leu1052=) c.3093G>T (p.Leu1031=) | gnomAD v4 |
| 11 | g.47333573C>G | CA474212278 | MYBPC3 | c.3174G>C (p.Leu1058=) c.3156G>C (p.Leu1052=) c.3093G>C (p.Leu1031=) | |
| 11 | g.47333573C>T | CA474212279 | MYBPC3 | c.3174G>A (p.Leu1058=) c.3156G>A (p.Leu1052=) c.3093G>A (p.Leu1031=) | |
| 11 | g.47333574A= | CA1969335722 | MYBPC3 | c.3173T= (p.Leu1058=) c.3155T= (p.Leu1052=) c.3092T= (p.Leu1031=) | |
| 11 | g.47333574A>C | CA380314674 | MYBPC3 | c.3173T>G (p.Leu1058Arg) c.3155T>G (p.Leu1052Arg) c.3092T>G (p.Leu1031Arg) | ClinVar dbSNP |
| 11 | g.47333574A>G | CA380314677 | MYBPC3 | c.3173T>C (p.Leu1058Pro) c.3155T>C (p.Leu1052Pro) c.3092T>C (p.Leu1031Pro) | |
| 11 | g.47333574A>T | CA380314679 | MYBPC3 | c.3173T>A (p.Leu1058Gln) c.3155T>A (p.Leu1052Gln) c.3092T>A (p.Leu1031Gln) | |
| 11 | g.47333575G>A | CA474212281 | MYBPC3 | c.3172C>T (p.Leu1058=) c.3154C>T (p.Leu1052=) c.3091C>T (p.Leu1031=) | |
| 11 | g.47333575G>C | CA380314682 | MYBPC3 | c.3172C>G (p.Leu1058Val) c.3154C>G (p.Leu1052Val) c.3091C>G (p.Leu1031Val) | |
| 11 | g.47333575G>T | CA380314685 | MYBPC3 | c.3172C>A (p.Leu1058Met) c.3154C>A (p.Leu1052Met) c.3091C>A (p.Leu1031Met) | |
| 11 | g.47333576C>A | CA474212284 | MYBPC3 | c.3171G>T (p.Thr1057=) c.3153G>T (p.Thr1051=) c.3090G>T (p.Thr1030=) | |
| 11 | g.47333576C= | CA1969335734 | MYBPC3 | c.3171G= (p.Thr1057=) c.3153G= (p.Thr1051=) c.3090G= (p.Thr1030=) | |
| 11 | g.47333576C>G | CA474212286 | MYBPC3 | c.3171G>C (p.Thr1057=) c.3153G>C (p.Thr1051=) c.3090G>C (p.Thr1030=) | |
| 11 | g.47333576C>T | CA013587 | MYBPC3 | c.3171G>A (p.Thr1057=) c.3153G>A (p.Thr1051=) c.3090G>A (p.Thr1030=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333577G>A | CA079179 | MYBPC3 | c.3170C>T (p.Thr1057Met) c.3152C>T (p.Thr1051Met) c.3089C>T (p.Thr1030Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333577G>C | CA380314695 | MYBPC3 | c.3170C>G (p.Thr1057Arg) c.3152C>G (p.Thr1051Arg) c.3089C>G (p.Thr1030Arg) | |
| 11 | g.47333577G= | CA1969335740 | MYBPC3 | c.3170C= (p.Thr1057=) c.3152C= (p.Thr1051=) c.3089C= (p.Thr1030=) | |
| 11 | g.47333577G>T | CA380314692 | MYBPC3 | c.3170C>A (p.Thr1057Lys) c.3152C>A (p.Thr1051Lys) c.3089C>A (p.Thr1030Lys) | |
| 11 | g.47333578T>A | CA380314698 | MYBPC3 | c.3169A>T (p.Thr1057Ser) c.3151A>T (p.Thr1051Ser) c.3088A>T (p.Thr1030Ser) | |
| 11 | g.47333578T>C | CA013577 | MYBPC3 | c.3169A>G (p.Thr1057Ala) c.3151A>G (p.Thr1051Ala) c.3088A>G (p.Thr1030Ala) | ClinVar dbSNP |
| 11 | g.47333578T>G | CA380314700 | MYBPC3 | c.3169A>C (p.Thr1057Pro) c.3151A>C (p.Thr1051Pro) c.3088A>C (p.Thr1030Pro) | |
| 11 | g.47333578T= | CA1969335745 | MYBPC3 | c.3169A= (p.Thr1057=) c.3151A= (p.Thr1051=) c.3088A= (p.Thr1030=) | |
| 11 | g.47333578_47333579delinsTG | CA1969335744 | MYBPC3 | c.3168_3169delinsCA (p.Ala1056=) c.3150_3151delinsCA (p.Ala1050=) c.3087_3088delinsCA (p.Ala1029=) | |
| 11 | g.47333579G>A | CA079174 | MYBPC3 | c.3168C>T (p.Ala1056=) c.3150C>T (p.Ala1050=) c.3087C>T (p.Ala1029=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333579G>C | CA474212290 | MYBPC3 | c.3168C>G (p.Ala1056=) c.3150C>G (p.Ala1050=) c.3087C>G (p.Ala1029=) | |
| 11 | g.47333579G= | CA1969335751 | MYBPC3 | c.3168C= (p.Ala1056=) c.3150C= (p.Ala1050=) c.3087C= (p.Ala1029=) | |
| 11 | g.47333579G>T | CA474212291 | MYBPC3 | c.3168C>A (p.Ala1056=) c.3150C>A (p.Ala1050=) c.3087C>A (p.Ala1029=) | ClinVar dbSNP |
| 11 | g.47333580del | CA079176 | MYBPC3 | c.3168del (p.Thr1057ArgfsTer18) c.3150del (p.Thr1051ArgfsTer18) c.3087del (p.Thr1030ArgfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333580G>A | CA052819 | MYBPC3 | c.3167C>T (p.Ala1056Val) c.3149C>T (p.Ala1050Val) c.3086C>T (p.Ala1029Val) | |
| 11 | g.47333580G>C | CA380314709 | MYBPC3 | c.3167C>G (p.Ala1056Gly) c.3149C>G (p.Ala1050Gly) c.3086C>G (p.Ala1029Gly) | ClinVar |
| 11 | g.47333580G= | CA1969335755 | MYBPC3 | c.3167C= (p.Ala1056=) c.3149C= (p.Ala1050=) c.3086C= (p.Ala1029=) | |
| 11 | g.47333580G>T | CA380314712 | MYBPC3 | c.3167C>A (p.Ala1056Asp) c.3149C>A (p.Ala1050Asp) c.3086C>A (p.Ala1029Asp) | |
| 11 | g.47333581C>A | CA380314713 | MYBPC3 | c.3166G>T (p.Ala1056Ser) c.3148G>T (p.Ala1050Ser) c.3085G>T (p.Ala1029Ser) | |
| 11 | g.47333581C= | CA1969335763 | MYBPC3 | c.3166G= (p.Ala1056=) c.3148G= (p.Ala1050=) c.3085G= (p.Ala1029=) | |
| 11 | g.47333581C>G | CA380314714 | MYBPC3 | c.3166G>C (p.Ala1056Pro) c.3148G>C (p.Ala1050Pro) c.3085G>C (p.Ala1029Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333581C>T | CA380314715 | MYBPC3 | c.3166G>A (p.Ala1056Thr) c.3148G>A (p.Ala1050Thr) c.3085G>A (p.Ala1029Thr) | |
| 11 | g.47333582dup | CA013565 | MYBPC3 | c.3166dup (p.Ala1056GlyfsTer9) c.3148dup (p.Ala1050GlyfsTer9) c.3085dup (p.Ala1029GlyfsTer9) | ClinVar dbSNP |
| 11 | g.47333582del | CA052805 | MYBPC3 | c.3166del (p.Ala1056ProfsTer19) c.3148del (p.Ala1050ProfsTer19) c.3085del (p.Ala1029ProfsTer19) | |
| 11 | g.47333582C>A | CA380314717 | MYBPC3 | c.3165G>T (p.Lys1055Asn) c.3147G>T (p.Lys1049Asn) c.3084G>T (p.Lys1028Asn) | gnomAD v4 |
| 11 | g.47333582C= | CA1969335766 | MYBPC3 | c.3165G= (p.Lys1055=) c.3147G= (p.Lys1049=) c.3084G= (p.Lys1028=) | |
| 11 | g.47333582C>G | CA380314719 | MYBPC3 | c.3165G>C (p.Lys1055Asn) c.3147G>C (p.Lys1049Asn) c.3084G>C (p.Lys1028Asn) | |
| 11 | g.47333582C>T | CA079171 | MYBPC3 | c.3165G>A (p.Lys1055=) c.3147G>A (p.Lys1049=) c.3084G>A (p.Lys1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333583T>A | CA380314729 | MYBPC3 | c.3164A>T (p.Lys1055Met) c.3146A>T (p.Lys1049Met) c.3083A>T (p.Lys1028Met) | |
| 11 | g.47333583T>C | CA380314724 | MYBPC3 | c.3164A>G (p.Lys1055Arg) c.3146A>G (p.Lys1049Arg) c.3083A>G (p.Lys1028Arg) | gnomAD v4 |
| 11 | g.47333583T>G | CA380314726 | MYBPC3 | c.3164A>C (p.Lys1055Thr) c.3146A>C (p.Lys1049Thr) c.3083A>C (p.Lys1028Thr) | |
| 11 | g.47333584T>A | CA352035 | MYBPC3 | c.3163A>T (p.Lys1055Ter) c.3145A>T (p.Lys1049Ter) c.3082A>T (p.Lys1028Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333584T>C | CA380314733 | MYBPC3 | c.3163A>G (p.Lys1055Glu) c.3145A>G (p.Lys1049Glu) c.3082A>G (p.Lys1028Glu) | |
| 11 | g.47333584T>G | CA380314735 | MYBPC3 | c.3163A>C (p.Lys1055Gln) c.3145A>C (p.Lys1049Gln) c.3082A>C (p.Lys1028Gln) | |
| 11 | g.47333584T= | CA1969335768 | MYBPC3 | c.3163A= (p.Lys1055=) c.3145A= (p.Lys1049=) c.3082A= (p.Lys1028=) | |
| 11 | g.47333585G>A | CA474212305 | MYBPC3 | c.3162C>T (p.Asp1054=) c.3144C>T (p.Asp1048=) c.3081C>T (p.Asp1027=) | |
| 11 | g.47333585G>C | CA380314738 | MYBPC3 | c.3162C>G (p.Asp1054Glu) c.3144C>G (p.Asp1048Glu) c.3081C>G (p.Asp1027Glu) | |
| 11 | g.47333585G>T | CA380314741 | MYBPC3 | c.3162C>A (p.Asp1054Glu) c.3144C>A (p.Asp1048Glu) c.3081C>A (p.Asp1027Glu) | gnomAD v4 |
| 11 | g.47333586T>A | CA380314744 | MYBPC3 | c.3161A>T (p.Asp1054Val) c.3143A>T (p.Asp1048Val) c.3080A>T (p.Asp1027Val) | |
| 11 | g.47333586T>C | CA380314747 | MYBPC3 | c.3161A>G (p.Asp1054Gly) c.3143A>G (p.Asp1048Gly) c.3080A>G (p.Asp1027Gly) | |
| 11 | g.47333586T>G | CA380314750 | MYBPC3 | c.3161A>C (p.Asp1054Ala) c.3143A>C (p.Asp1048Ala) c.3080A>C (p.Asp1027Ala) | |
| 11 | g.47333587C>A | CA380314753 | MYBPC3 | c.3160G>T (p.Asp1054Tyr) c.3142G>T (p.Asp1048Tyr) c.3079G>T (p.Asp1027Tyr) | |
| 11 | g.47333587C= | CA1969335769 | MYBPC3 | c.3160G= (p.Asp1054=) c.3142G= (p.Asp1048=) c.3079G= (p.Asp1027=) | |
| 11 | g.47333587C>G | CA380314754 | MYBPC3 | c.3160G>C (p.Asp1054His) c.3142G>C (p.Asp1048His) c.3079G>C (p.Asp1027His) | |
| 11 | g.47333587C>T | CA380314758 | MYBPC3 | c.3160G>A (p.Asp1054Asn) c.3142G>A (p.Asp1048Asn) c.3079G>A (p.Asp1027Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333588C>A | CA380314761 | MYBPC3 | c.3159G>T (p.Glu1053Asp) c.3141G>T (p.Glu1047Asp) c.3078G>T (p.Glu1026Asp) | |
| 11 | g.47333588C= | CA1969335772 | MYBPC3 | c.3159G= (p.Glu1053=) c.3141G= (p.Glu1047=) c.3078G= (p.Glu1026=) | |
| 11 | g.47333588C>G | CA380314764 | MYBPC3 | c.3159G>C (p.Glu1053Asp) c.3141G>C (p.Glu1047Asp) c.3078G>C (p.Glu1026Asp) | |
| 11 | g.47333588C>T | CA474212314 | MYBPC3 | c.3159G>A (p.Glu1053=) c.3141G>A (p.Glu1047=) c.3078G>A (p.Glu1026=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47333589T>A | CA380314766 | MYBPC3 | c.3158A>T (p.Glu1053Val) c.3140A>T (p.Glu1047Val) c.3077A>T (p.Glu1026Val) | |
| 11 | g.47333589T>C | CA380314769 | MYBPC3 | c.3158A>G (p.Glu1053Gly) c.3140A>G (p.Glu1047Gly) c.3077A>G (p.Glu1026Gly) | |
| 11 | g.47333589T>G | CA380314771 | MYBPC3 | c.3158A>C (p.Glu1053Ala) c.3140A>C (p.Glu1047Ala) c.3077A>C (p.Glu1026Ala) | |
| 11 | g.47333590C>A | CA052979 | MYBPC3 | c.3157G>T (p.Glu1053Ter) c.3139G>T (p.Glu1047Ter) c.3076G>T (p.Glu1026Ter) | ClinVar dbSNP |
| 11 | g.47333590C= | CA1969335776 | MYBPC3 | c.3157G= (p.Glu1053=) c.3139G= (p.Glu1047=) c.3076G= (p.Glu1026=) | |
| 11 | g.47333590C>G | CA380314775 | MYBPC3 | c.3157G>C (p.Glu1053Gln) c.3139G>C (p.Glu1047Gln) c.3076G>C (p.Glu1026Gln) | |
| 11 | g.47333590C>T | CA052972 | MYBPC3 | c.3157G>A (p.Glu1053Lys) c.3139G>A (p.Glu1047Lys) c.3076G>A (p.Glu1026Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333591C>A | CA380314782 | MYBPC3 | c.3156G>T (p.Met1052Ile) c.3138G>T (p.Met1046Ile) c.3075G>T (p.Met1025Ile) | |
| 11 | g.47333591C>G | CA380314785 | MYBPC3 | c.3156G>C (p.Met1052Ile) c.3138G>C (p.Met1046Ile) c.3075G>C (p.Met1025Ile) | |
| 11 | g.47333591C>T | CA380314788 | MYBPC3 | c.3156G>A (p.Met1052Ile) c.3138G>A (p.Met1046Ile) c.3075G>A (p.Met1025Ile) | |
| 11 | g.47333592A= | CA1969335777 | MYBPC3 | c.3155T= (p.Met1052=) c.3137T= (p.Met1046=) c.3074T= (p.Met1025=) | |
| 11 | g.47333592A>C | CA380314792 | MYBPC3 | c.3155T>G (p.Met1052Arg) c.3137T>G (p.Met1046Arg) c.3074T>G (p.Met1025Arg) | ClinVar dbSNP |
| 11 | g.47333592A>G | CA380314795 | MYBPC3 | c.3155T>C (p.Met1052Thr) c.3137T>C (p.Met1046Thr) c.3074T>C (p.Met1025Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47333592A>T | CA380314798 | MYBPC3 | c.3155T>A (p.Met1052Lys) c.3137T>A (p.Met1046Lys) c.3074T>A (p.Met1025Lys) | |
| 11 | g.47333593T>A | CA380314805 | MYBPC3 | c.3154A>T (p.Met1052Leu) c.3136A>T (p.Met1046Leu) c.3073A>T (p.Met1025Leu) | |
| 11 | g.47333593T>C | CA013559 | MYBPC3 | c.3154A>G (p.Met1052Val) c.3136A>G (p.Met1046Val) c.3073A>G (p.Met1025Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333593T>G | CA380314801 | MYBPC3 | c.3154A>C (p.Met1052Leu) c.3136A>C (p.Met1046Leu) c.3073A>C (p.Met1025Leu) | |
| 11 | g.47333593T= | CA1969335779 | MYBPC3 | c.3154A= (p.Met1052=) c.3136A= (p.Met1046=) c.3073A= (p.Met1025=) | |
| 11 | g.47333594G>A | CA474212327 | MYBPC3 | c.3153C>T (p.Asn1051=) c.3135C>T (p.Asn1045=) c.3072C>T (p.Asn1024=) | |
| 11 | g.47333594G>C | CA380314807 | MYBPC3 | c.3153C>G (p.Asn1051Lys) c.3135C>G (p.Asn1045Lys) c.3072C>G (p.Asn1024Lys) | |
| 11 | g.47333594G>T | CA380314810 | MYBPC3 | c.3153C>A (p.Asn1051Lys) c.3135C>A (p.Asn1045Lys) c.3072C>A (p.Asn1024Lys) | gnomAD v4 |
| 11 | g.47333595T>A | CA380314813 | MYBPC3 | c.3152A>T (p.Asn1051Ile) c.3134A>T (p.Asn1045Ile) c.3071A>T (p.Asn1024Ile) | |
| 11 | g.47333595T>C | CA079166 | MYBPC3 | c.3152A>G (p.Asn1051Ser) c.3134A>G (p.Asn1045Ser) c.3071A>G (p.Asn1024Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333595T>G | CA380314817 | MYBPC3 | c.3152A>C (p.Asn1051Thr) c.3134A>C (p.Asn1045Thr) c.3071A>C (p.Asn1024Thr) | |
| 11 | g.47333595T= | CA1969335780 | MYBPC3 | c.3152A= (p.Asn1051=) c.3134A= (p.Asn1045=) c.3071A= (p.Asn1024=) | |
| 11 | g.47333596T>A | CA380314820 | MYBPC3 | c.3151A>T (p.Asn1051Tyr) c.3133A>T (p.Asn1045Tyr) c.3070A>T (p.Asn1024Tyr) | |
| 11 | g.47333596T>C | CA052757 | MYBPC3 | c.3151A>G (p.Asn1051Asp) c.3133A>G (p.Asn1045Asp) c.3070A>G (p.Asn1024Asp) | |
| 11 | g.47333596T>G | CA380314823 | MYBPC3 | c.3151A>C (p.Asn1051His) c.3133A>C (p.Asn1045His) c.3070A>C (p.Asn1024His) | |
| 11 | g.47333596_47333597delinsTC | CA1969335781 | MYBPC3 | c.3150_3151delinsGA (p.Glu1050=) c.3132_3133delinsGA (p.Glu1044=) c.3069_3070delinsGA (p.Glu1023=) | |
| 11 | g.47333596_47333810delinsGGCCTGGTA | CA2697548544 | MYBPC3 | c.2995-58_3151delinsTACCAGGCC c.2977-58_3133delinsTACCAGGCC c.2914-58_3070delinsTACCAGGCC | ClinVar |
| 11 | g.47333597del | CA915948131 | MYBPC3 | c.3150del (p.Asn1051ThrfsTer24) c.3132del (p.Asn1045ThrfsTer24) c.3069del (p.Asn1024ThrfsTer24) | ClinVar dbSNP |
| 11 | g.47333597C>A | CA380314826 | MYBPC3 | c.3150G>T (p.Glu1050Asp) c.3132G>T (p.Glu1044Asp) c.3069G>T (p.Glu1023Asp) | gnomAD v4 |
| 11 | g.47333597C>G | CA380314829 | MYBPC3 | c.3150G>C (p.Glu1050Asp) c.3132G>C (p.Glu1044Asp) c.3069G>C (p.Glu1023Asp) | |
| 11 | g.47333597C>T | CA474212331 | MYBPC3 | c.3150G>A (p.Glu1050=) c.3132G>A (p.Glu1044=) c.3069G>A (p.Glu1023=) | |
| 11 | g.47333598T>A | CA380314831 | MYBPC3 | c.3149A>T (p.Glu1050Val) c.3131A>T (p.Glu1044Val) c.3068A>T (p.Glu1023Val) | |
| 11 | g.47333598T>C | CA052748 | MYBPC3 | c.3149A>G (p.Glu1050Gly) c.3131A>G (p.Glu1044Gly) c.3068A>G (p.Glu1023Gly) | gnomAD v4 |
| 11 | g.47333598T>G | CA380314835 | MYBPC3 | c.3149A>C (p.Glu1050Ala) c.3131A>C (p.Glu1044Ala) c.3068A>C (p.Glu1023Ala) | |
| 11 | g.47333599C>A | CA380314840 | MYBPC3 | c.3148G>T (p.Glu1050Ter) c.3130G>T (p.Glu1044Ter) c.3067G>T (p.Glu1023Ter) | |
| 11 | g.47333599C= | CA1969335785 | MYBPC3 | c.3148G= (p.Glu1050=) c.3130G= (p.Glu1044=) c.3067G= (p.Glu1023=) | |
| 11 | g.47333599C>G | CA380314844 | MYBPC3 | c.3148G>C (p.Glu1050Gln) c.3130G>C (p.Glu1044Gln) c.3067G>C (p.Glu1023Gln) | |
| 11 | g.47333599C>T | CA013548 | MYBPC3 | c.3148G>A (p.Glu1050Lys) c.3130G>A (p.Glu1044Lys) c.3067G>A (p.Glu1023Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333600A= | CA1969335787 | MYBPC3 | c.3147T= (p.Ile1049=) c.3129T= (p.Ile1043=) c.3066T= (p.Ile1022=) | |
| 11 | g.47333600A>C | CA380314850 | MYBPC3 | c.3147T>G (p.Ile1049Met) c.3129T>G (p.Ile1043Met) c.3066T>G (p.Ile1022Met) | |
| 11 | g.47333600A>G | CA474212337 | MYBPC3 | c.3147T>C (p.Ile1049=) c.3129T>C (p.Ile1043=) c.3066T>C (p.Ile1022=) | ClinVar gnomAD v4 |
| 11 | g.47333600A>T | CA079162 | MYBPC3 | c.3147T>A (p.Ile1049=) c.3129T>A (p.Ile1043=) c.3066T>A (p.Ile1022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333601A= | CA1969335789 | MYBPC3 | c.3146T= (p.Ile1049=) c.3128T= (p.Ile1043=) c.3065T= (p.Ile1022=) | |
| 11 | g.47333601A>C | CA380314859 | MYBPC3 | c.3146T>G (p.Ile1049Ser) c.3128T>G (p.Ile1043Ser) c.3065T>G (p.Ile1022Ser) | |
| 11 | g.47333601A>G | CA380314856 | MYBPC3 | c.3146T>C (p.Ile1049Thr) c.3128T>C (p.Ile1043Thr) c.3065T>C (p.Ile1022Thr) | ClinVar dbSNP |
| 11 | g.47333601A>T | CA380314861 | MYBPC3 | c.3146T>A (p.Ile1049Asn) c.3128T>A (p.Ile1043Asn) c.3065T>A (p.Ile1022Asn) | |
| 11 | g.47333601_47333602delinsGG | CA052997 | MYBPC3 | c.3145_3146delinsCC (p.Ile1049Pro) c.3127_3128delinsCC (p.Ile1043Pro) c.3064_3065delinsCC (p.Ile1022Pro) | |
| 11 | g.47333602T>A | CA380314864 | MYBPC3 | c.3145A>T (p.Ile1049Phe) c.3127A>T (p.Ile1043Phe) c.3064A>T (p.Ile1022Phe) | ClinVar |
| 11 | g.47333602T>C | CA380314869 | MYBPC3 | c.3145A>G (p.Ile1049Val) c.3127A>G (p.Ile1043Val) c.3064A>G (p.Ile1022Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47333602T>G | CA380314867 | MYBPC3 | c.3145A>C (p.Ile1049Leu) c.3127A>C (p.Ile1043Leu) c.3064A>C (p.Ile1022Leu) | |
| 11 | g.47333602T= | CA1969335791 | MYBPC3 | c.3145A= (p.Ile1049=) c.3127A= (p.Ile1043=) c.3064A= (p.Ile1022=) | |
| 11 | g.47333603G>A | CA474212341 | MYBPC3 | c.3144C>T (p.Arg1048=) c.3126C>T (p.Arg1042=) c.3063C>T (p.Arg1021=) | gnomAD v4 |
| 11 | g.47333603G>C | CA474212342 | MYBPC3 | c.3144C>G (p.Arg1048=) c.3126C>G (p.Arg1042=) c.3063C>G (p.Arg1021=) | |
| 11 | g.47333603G>T | CA474212345 | MYBPC3 | c.3144C>A (p.Arg1048=) c.3126C>A (p.Arg1042=) c.3063C>A (p.Arg1021=) | gnomAD v4 |
| 11 | g.47333604C>A | CA380314872 | MYBPC3 | c.3143G>T (p.Arg1048Leu) c.3125G>T (p.Arg1042Leu) c.3062G>T (p.Arg1021Leu) | |
| 11 | g.47333604C= | CA1969335792 | MYBPC3 | c.3143G= (p.Arg1048=) c.3125G= (p.Arg1042=) c.3062G= (p.Arg1021=) | |
| 11 | g.47333604C>G | CA380314875 | MYBPC3 | c.3143G>C (p.Arg1048Pro) c.3125G>C (p.Arg1042Pro) c.3062G>C (p.Arg1021Pro) | |
| 11 | g.47333604C>T | CA013538 | MYBPC3 | c.3143G>A (p.Arg1048His) c.3125G>A (p.Arg1042His) c.3062G>A (p.Arg1021His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333605G>A | CA079159 | MYBPC3 | c.3142C>T (p.Arg1048Cys) c.3124C>T (p.Arg1042Cys) c.3061C>T (p.Arg1021Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47333605G>C | CA380314888 | MYBPC3 | c.3142C>G (p.Arg1048Gly) c.3124C>G (p.Arg1042Gly) c.3061C>G (p.Arg1021Gly) | |
| 11 | g.47333605G= | CA1969335795 | MYBPC3 | c.3142C= (p.Arg1048=) c.3124C= (p.Arg1042=) c.3061C= (p.Arg1021=) | |
| 11 | g.47333605G>T | CA380314890 | MYBPC3 | c.3142C>A (p.Arg1048Ser) c.3124C>A (p.Arg1042Ser) c.3061C>A (p.Arg1021Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |