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.47333556_47333568del | CA296495 | MYBPC3 | c.3182_3190+4del c.3164_3172+4del c.3101_3109+4del | 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.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) |