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.47333698_47333720del | CA2695213944 | MYBPC3 | c.3029_3051del (p.Glu1010GlyfsTer?) c.3011_3033del (p.Glu1004GlyfsTer?) c.2948_2970del (p.Glu983GlyfsTer?) | |
11 | g.47333712T>A | CA380315539 | MYBPC3 | c.3035A>T (p.Gln1012Leu) c.3017A>T (p.Gln1006Leu) c.2954A>T (p.Gln985Leu) | |
11 | g.47333712T>C | CA380315540 | MYBPC3 | c.3035A>G (p.Gln1012Arg) c.3017A>G (p.Gln1006Arg) c.2954A>G (p.Gln985Arg) | |
11 | g.47333712T>G | CA380315542 | MYBPC3 | c.3035A>C (p.Gln1012Pro) c.3017A>C (p.Gln1006Pro) c.2954A>C (p.Gln985Pro) | |
11 | g.47333713G>A | CA013359 | MYBPC3 | c.3034C>T (p.Gln1012Ter) c.3016C>T (p.Gln1006Ter) c.2953C>T (p.Gln985Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47333713G>C | CA380315547 | MYBPC3 | c.3034C>G (p.Gln1012Glu) c.3016C>G (p.Gln1006Glu) c.2953C>G (p.Gln985Glu) | |
11 | g.47333713G= | CA1969335938 | MYBPC3 | c.3034C= (p.Gln1012=) c.3016C= (p.Gln1006=) c.2953C= (p.Gln985=) | |
11 | g.47333713G>T | CA380315549 | MYBPC3 | c.3034C>A (p.Gln1012Lys) c.3016C>A (p.Gln1006Lys) c.2953C>A (p.Gln985Lys) | gnomAD v4 |
11 | g.47333714C>A | CA474429283 | MYBPC3 | c.3033G>T (p.Gly1011=) c.3015G>T (p.Gly1005=) c.2952G>T (p.Gly984=) | gnomAD v4 |
11 | g.47333714C= | CA1969335939 | MYBPC3 | c.3033G= (p.Gly1011=) c.3015G= (p.Gly1005=) c.2952G= (p.Gly984=) | |
11 | g.47333714C>G | CA474429284 | MYBPC3 | c.3033G>C (p.Gly1011=) c.3015G>C (p.Gly1005=) c.2952G>C (p.Gly984=) | |
11 | g.47333714C>T | CA079091 | MYBPC3 | c.3033G>A (p.Gly1011=) c.3015G>A (p.Gly1005=) c.2952G>A (p.Gly984=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333717del | CA2613394101 | MYBPC3 | c.3033del (p.Gln1012SerfsTer8) c.3015del (p.Gln1006SerfsTer8) c.2952del (p.Gln985SerfsTer8) | gnomAD v4 |
11 | g.47333715C>A | CA380315553 | MYBPC3 | c.3032G>T (p.Gly1011Val) c.3014G>T (p.Gly1005Val) c.2951G>T (p.Gly984Val) | gnomAD v4 |
11 | g.47333715C>G | CA380315556 | MYBPC3 | c.3032G>C (p.Gly1011Ala) c.3014G>C (p.Gly1005Ala) c.2951G>C (p.Gly984Ala) | gnomAD v4 |
11 | g.47333715C>T | CA380315557 | MYBPC3 | c.3032G>A (p.Gly1011Glu) c.3014G>A (p.Gly1005Glu) c.2951G>A (p.Gly984Glu) | |
11 | g.47333716C>A | CA380315562 | MYBPC3 | c.3031G>T (p.Gly1011Trp) c.3013G>T (p.Gly1005Trp) c.2950G>T (p.Gly984Trp) | |
11 | g.47333716C= | CA1969335942 | MYBPC3 | c.3031G= (p.Gly1011=) c.3013G= (p.Gly1005=) c.2950G= (p.Gly984=) | |
11 | g.47333716C>G | CA380315561 | MYBPC3 | c.3031G>C (p.Gly1011Arg) c.3013G>C (p.Gly1005Arg) c.2950G>C (p.Gly984Arg) | |
11 | g.47333716C>T | CA079089 | MYBPC3 | c.3031G>A (p.Gly1011Arg) c.3013G>A (p.Gly1005Arg) c.2950G>A (p.Gly984Arg) | dbSNP ExAC gnomAD v4 |
11 | g.47333716_47333718delinsCCT | CA1969335941 | MYBPC3 | c.3029_3031delinsAGG (p.Glu1010=) c.3011_3013delinsAGG (p.Glu1004=) c.2948_2950delinsAGG (p.Glu983=) | |
11 | g.47333717C>A | CA380315574 | MYBPC3 | c.3030G>T (p.Glu1010Asp) c.3012G>T (p.Glu1004Asp) c.2949G>T (p.Glu983Asp) | |
11 | g.47333717C>G | CA380315577 | MYBPC3 | c.3030G>C (p.Glu1010Asp) c.3012G>C (p.Glu1004Asp) c.2949G>C (p.Glu983Asp) | ClinVar |
11 | g.47333717C>T | CA052320 | MYBPC3 | c.3030G>A (p.Glu1010=) c.3012G>A (p.Glu1004=) c.2949G>A (p.Glu983=) | ClinVar gnomAD v4 |
11 | g.47333719_47333720del | CA013350 | MYBPC3 | c.3029_3030del (p.Glu1010GlyfsTer?) c.3011_3012del (p.Glu1004GlyfsTer?) c.2948_2949del (p.Glu983GlyfsTer?) | ClinVar dbSNP |
11 | g.47333718del | CA2573130287 | MYBPC3 | c.3029del (p.Glu1010GlyfsTer10) c.3011del (p.Glu1004GlyfsTer10) c.2948del (p.Glu983GlyfsTer10) | |
11 | g.47333718T>A | CA380315582 | MYBPC3 | c.3029A>T (p.Glu1010Val) c.3011A>T (p.Glu1004Val) c.2948A>T (p.Glu983Val) | |
11 | g.47333718T>C | CA380315584 | MYBPC3 | c.3029A>G (p.Glu1010Gly) c.3011A>G (p.Glu1004Gly) c.2948A>G (p.Glu983Gly) | |
11 | g.47333718T>G | CA380315586 | MYBPC3 | c.3029A>C (p.Glu1010Ala) c.3011A>C (p.Glu1004Ala) c.2948A>C (p.Glu983Ala) | |
11 | g.47333719del | CA2573332625 | MYBPC3 | c.3028del (p.Glu1010ArgfsTer10) c.3010del (p.Glu1004ArgfsTer10) c.2947del (p.Glu983ArgfsTer10) | |
11 | g.47333719C>A | CA380315588 | MYBPC3 | c.3028G>T (p.Glu1010Ter) c.3010G>T (p.Glu1004Ter) c.2947G>T (p.Glu983Ter) | |
11 | g.47333719C>G | CA380315590 | MYBPC3 | c.3028G>C (p.Glu1010Gln) c.3010G>C (p.Glu1004Gln) c.2947G>C (p.Glu983Gln) | |
11 | g.47333719C>T | CA052311 | MYBPC3 | c.3028G>A (p.Glu1010Lys) c.3010G>A (p.Glu1004Lys) c.2947G>A (p.Glu983Lys) | |
11 | g.47333720T>A | CA380315592 | MYBPC3 | c.3027A>T (p.Lys1009Asn) c.3009A>T (p.Lys1003Asn) c.2946A>T (p.Lys982Asn) | |
11 | g.47333720T>C | CA474429285 | MYBPC3 | c.3027A>G (p.Lys1009=) c.3009A>G (p.Lys1003=) c.2946A>G (p.Lys982=) | |
11 | g.47333720T>G | CA380315594 | MYBPC3 | c.3027A>C (p.Lys1009Asn) c.3009A>C (p.Lys1003Asn) c.2946A>C (p.Lys982Asn) | |
11 | g.47333721T>A | CA380315597 | MYBPC3 | c.3026A>T (p.Lys1009Ile) c.3008A>T (p.Lys1003Ile) c.2945A>T (p.Lys982Ile) | |
11 | g.47333721T>C | CA380315599 | MYBPC3 | c.3026A>G (p.Lys1009Arg) c.3008A>G (p.Lys1003Arg) c.2945A>G (p.Lys982Arg) | gnomAD v4 |
11 | g.47333721T>G | CA380315595 | MYBPC3 | c.3026A>C (p.Lys1009Thr) c.3008A>C (p.Lys1003Thr) c.2945A>C (p.Lys982Thr) | |
11 | g.47333722T>A | CA380315601 | MYBPC3 | c.3025A>T (p.Lys1009Ter) c.3007A>T (p.Lys1003Ter) c.2944A>T (p.Lys982Ter) | |
11 | g.47333722T>C | CA380315603 | MYBPC3 | c.3025A>G (p.Lys1009Glu) c.3007A>G (p.Lys1003Glu) c.2944A>G (p.Lys982Glu) | |
11 | g.47333722T>G | CA380315605 | MYBPC3 | c.3025A>C (p.Lys1009Gln) c.3007A>C (p.Lys1003Gln) c.2944A>C (p.Lys982Gln) | |
11 | g.47333723G>A | CA474429286 | MYBPC3 | c.3024C>T (p.Thr1008=) c.3006C>T (p.Thr1002=) c.2943C>T (p.Thr981=) | gnomAD v4 |
11 | g.47333723G>C | CA474429287 | MYBPC3 | c.3024C>G (p.Thr1008=) c.3006C>G (p.Thr1002=) c.2943C>G (p.Thr981=) | |
11 | g.47333723G= | CA1969335946 | MYBPC3 | c.3024C= (p.Thr1008=) c.3006C= (p.Thr1002=) c.2943C= (p.Thr981=) | |
11 | g.47333723G>T | CA221682899 | MYBPC3 | c.3024C>A (p.Thr1008=) c.3006C>A (p.Thr1002=) c.2943C>A (p.Thr981=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333724G>A | CA380315607 | MYBPC3 | c.3023C>T (p.Thr1008Ile) c.3005C>T (p.Thr1002Ile) c.2942C>T (p.Thr981Ile) | ClinVar |
11 | g.47333724G>C | CA380315608 | MYBPC3 | c.3023C>G (p.Thr1008Ser) c.3005C>G (p.Thr1002Ser) c.2942C>G (p.Thr981Ser) | |
11 | g.47333724G>T | CA380315609 | MYBPC3 | c.3023C>A (p.Thr1008Asn) c.3005C>A (p.Thr1002Asn) c.2942C>A (p.Thr981Asn) | gnomAD v4 |
11 | g.47333725T>A | CA380315612 | MYBPC3 | c.3022A>T (p.Thr1008Ser) c.3004A>T (p.Thr1002Ser) c.2941A>T (p.Thr981Ser) | ClinVar |
11 | g.47333725T>C | CA380315614 | MYBPC3 | c.3022A>G (p.Thr1008Ala) c.3004A>G (p.Thr1002Ala) c.2941A>G (p.Thr981Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47333725T>G | CA380315616 | MYBPC3 | c.3022A>C (p.Thr1008Pro) c.3004A>C (p.Thr1002Pro) c.2941A>C (p.Thr981Pro) | gnomAD v4 |
11 | g.47333725T= | CA1969335947 | MYBPC3 | c.3022A= (p.Thr1008=) c.3004A= (p.Thr1002=) c.2941A= (p.Thr981=) | |
11 | g.47333726C>A | CA380315619 | MYBPC3 | c.3021G>T (p.Trp1007Cys) c.3003G>T (p.Trp1001Cys) c.2940G>T (p.Trp980Cys) | |
11 | g.47333726C= | CA1969335949 | MYBPC3 | c.3021G= (p.Trp1007=) c.3003G= (p.Trp1001=) c.2940G= (p.Trp980=) | |
11 | g.47333726C>G | CA380315621 | MYBPC3 | c.3021G>C (p.Trp1007Cys) c.3003G>C (p.Trp1001Cys) c.2940G>C (p.Trp980Cys) | gnomAD v4 |
11 | g.47333726C>T | CA013344 | MYBPC3 | c.3021G>A (p.Trp1007Ter) c.3003G>A (p.Trp1001Ter) c.2940G>A (p.Trp980Ter) | ClinVar dbSNP |
11 | g.47333727C>A | CA380315626 | MYBPC3 | c.3020G>T (p.Trp1007Leu) c.3002G>T (p.Trp1001Leu) c.2939G>T (p.Trp980Leu) | |
11 | g.47333727C= | CA1969335950 | MYBPC3 | c.3020G= (p.Trp1007=) c.3002G= (p.Trp1001=) c.2939G= (p.Trp980=) | |
11 | g.47333727C>G | CA380315623 | MYBPC3 | c.3020G>C (p.Trp1007Ser) c.3002G>C (p.Trp1001Ser) c.2939G>C (p.Trp980Ser) | dbSNP |
11 | g.47333727C>T | CA380315624 | MYBPC3 | c.3020G>A (p.Trp1007Ter) c.3002G>A (p.Trp1001Ter) c.2939G>A (p.Trp980Ter) | ClinVar |
11 | g.47333728A= | CA1969335952 | MYBPC3 | c.3019T= (p.Trp1007=) c.3001T= (p.Trp1001=) c.2938T= (p.Trp980=) | |
11 | g.47333728A>C | CA380315628 | MYBPC3 | c.3019T>G (p.Trp1007Gly) c.3001T>G (p.Trp1001Gly) c.2938T>G (p.Trp980Gly) | |
11 | g.47333728A>G | CA013338 | MYBPC3 | c.3019T>C (p.Trp1007Arg) c.3001T>C (p.Trp1001Arg) c.2938T>C (p.Trp980Arg) | ClinVar dbSNP |
11 | g.47333728A>T | CA380315630 | MYBPC3 | c.3019T>A (p.Trp1007Arg) c.3001T>A (p.Trp1001Arg) c.2938T>A (p.Trp980Arg) | |
11 | g.47333729G>A | CA474429290 | MYBPC3 | c.3018C>T (p.Thr1006=) c.3000C>T (p.Thr1000=) c.2937C>T (p.Thr979=) | dbSNP gnomAD v4 |
11 | g.47333729G>C | CA474429289 | MYBPC3 | c.3018C>G (p.Thr1006=) c.3000C>G (p.Thr1000=) c.2937C>G (p.Thr979=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333729G= | CA1969335954 | MYBPC3 | c.3018C= (p.Thr1006=) c.3000C= (p.Thr1000=) c.2937C= (p.Thr979=) | |
11 | g.47333729G>T | CA474429288 | MYBPC3 | c.3018C>A (p.Thr1006=) c.3000C>A (p.Thr1000=) c.2937C>A (p.Thr979=) | gnomAD v4 |
11 | g.47333730del | CA2695213949 | MYBPC3 | c.3018del (p.Trp1007GlyfsTer13) c.3000del (p.Trp1001GlyfsTer13) c.2937del (p.Trp980GlyfsTer13) | |
11 | g.47333730G>A | CA380315633 | MYBPC3 | c.3017C>T (p.Thr1006Ile) c.2999C>T (p.Thr1000Ile) c.2936C>T (p.Thr979Ile) | dbSNP gnomAD v4 |
11 | g.47333730G>C | CA380315635 | MYBPC3 | c.3017C>G (p.Thr1006Ser) c.2999C>G (p.Thr1000Ser) c.2936C>G (p.Thr979Ser) | |
11 | g.47333730G= | CA1969335955 | MYBPC3 | c.3017C= (p.Thr1006=) c.2999C= (p.Thr1000=) c.2936C= (p.Thr979=) | |
11 | g.47333730G>T | CA013329 | MYBPC3 | c.3017C>A (p.Thr1006Asn) c.2999C>A (p.Thr1000Asn) c.2936C>A (p.Thr979Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333731T>A | CA380315638 | MYBPC3 | c.3016A>T (p.Thr1006Ser) c.2998A>T (p.Thr1000Ser) c.2935A>T (p.Thr979Ser) | |
11 | g.47333731T>C | CA380315640 | MYBPC3 | c.3016A>G (p.Thr1006Ala) c.2998A>G (p.Thr1000Ala) c.2935A>G (p.Thr979Ala) | dbSNP gnomAD v4 |
11 | g.47333731T>G | CA380315642 | MYBPC3 | c.3016A>C (p.Thr1006Pro) c.2998A>C (p.Thr1000Pro) c.2935A>C (p.Thr979Pro) | gnomAD v4 |
11 | g.47333731T= | CA1969335956 | MYBPC3 | c.3016A= (p.Thr1006=) c.2998A= (p.Thr1000=) c.2935A= (p.Thr979=) | |
11 | g.47333732C>A | CA474429291 | MYBPC3 | c.3015G>T (p.Val1005=) c.2997G>T (p.Val999=) c.2934G>T (p.Val978=) | gnomAD v4 |
11 | g.47333732C>G | CA474429292 | MYBPC3 | c.3015G>C (p.Val1005=) c.2997G>C (p.Val999=) c.2934G>C (p.Val978=) | |
11 | g.47333732C>T | CA474429293 | MYBPC3 | c.3015G>A (p.Val1005=) c.2997G>A (p.Val999=) c.2934G>A (p.Val978=) | ClinVar |
11 | g.47333733A>C | CA380315644 | MYBPC3 | c.3014T>G (p.Val1005Gly) c.2996T>G (p.Val999Gly) c.2933T>G (p.Val978Gly) | |
11 | g.47333733A>G | CA380315647 | MYBPC3 | c.3014T>C (p.Val1005Ala) c.2996T>C (p.Val999Ala) c.2933T>C (p.Val978Ala) | |
11 | g.47333733A>T | CA380315648 | MYBPC3 | c.3014T>A (p.Val1005Glu) c.2996T>A (p.Val999Glu) c.2933T>A (p.Val978Glu) | ClinVar |
11 | g.47333734C>A | CA380315653 | MYBPC3 | c.3013G>T (p.Val1005Leu) c.2995G>T (p.Val999Leu) c.2932G>T (p.Val978Leu) | |
11 | g.47333734C>G | CA380315655 | MYBPC3 | c.3013G>C (p.Val1005Leu) c.2995G>C (p.Val999Leu) c.2932G>C (p.Val978Leu) | |
11 | g.47333734C>T | CA380315650 | MYBPC3 | c.3013G>A (p.Val1005Met) c.2995G>A (p.Val999Met) c.2932G>A (p.Val978Met) | gnomAD v4 |
11 | g.47333741_47333758del | CA915940866 | MYBPC3 | c.2996_3013del c.2978_2995del c.2915_2932del | |
11 | g.47333735C>A | CA380315659 | MYBPC3 | c.3012G>T (p.Gln1004His) c.2994G>T (p.Gln998His) c.2931G>T (p.Gln977His) | gnomAD v4 |
11 | g.47333735C= | CA1969335958 | MYBPC3 | c.3012G= (p.Gln1004=) c.2994G= (p.Gln998=) c.2931G= (p.Gln977=) | |
11 | g.47333735C>G | CA380315657 | MYBPC3 | c.3012G>C (p.Gln1004His) c.2994G>C (p.Gln998His) c.2931G>C (p.Gln977His) | gnomAD v4 |
11 | g.47333735C>T | CA474429294 | MYBPC3 | c.3012G>A (p.Gln1004=) c.2994G>A (p.Gln998=) c.2931G>A (p.Gln977=) | dbSNP |
11 | g.47333736T>A | CA380315661 | MYBPC3 | c.3011A>T (p.Gln1004Leu) c.2993A>T (p.Gln998Leu) c.2930A>T (p.Gln977Leu) | |
11 | g.47333736T>C | CA380315662 | MYBPC3 | c.3011A>G (p.Gln1004Arg) c.2993A>G (p.Gln998Arg) c.2930A>G (p.Gln977Arg) | gnomAD v4 |
11 | g.47333736T>G | CA380315663 | MYBPC3 | c.3011A>C (p.Gln1004Pro) c.2993A>C (p.Gln998Pro) c.2930A>C (p.Gln977Pro) | |
11 | g.47333736_47333738delinsTGA | CA1969335959 | MYBPC3 | c.3009_3011delinsTCA (p.Pro1003=) c.2991_2993delinsTCA (p.Pro997=) c.2928_2930delinsTCA (p.Pro976=) | |
11 | g.47333737G>A | CA380315664 | MYBPC3 | c.3010C>T (p.Gln1004Ter) c.2992C>T (p.Gln998Ter) c.2929C>T (p.Gln977Ter) | |
11 | g.47333737G>C | CA380315665 | MYBPC3 | c.3010C>G (p.Gln1004Glu) c.2992C>G (p.Gln998Glu) c.2929C>G (p.Gln977Glu) | |
11 | g.47333737G>T | CA380315667 | MYBPC3 | c.3010C>A (p.Gln1004Lys) c.2992C>A (p.Gln998Lys) c.2929C>A (p.Gln977Lys) | gnomAD v4 |
11 | g.47333738_47333739del | CA1969335960 | MYBPC3 | c.3009_3010del (p.Gln1004GlyfsTer?) c.2991_2992del (p.Gln998GlyfsTer?) c.2928_2929del (p.Gln977GlyfsTer?) | ClinVar dbSNP |
11 | g.47333738A= | CA1969335962 | MYBPC3 | c.3009T= (p.Pro1003=) c.2991T= (p.Pro997=) c.2928T= (p.Pro976=) | |
11 | g.47333738A>C | CA079086 | MYBPC3 | c.3009T>G (p.Pro1003=) c.2991T>G (p.Pro997=) c.2928T>G (p.Pro976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333738A>G | CA474429295 | MYBPC3 | c.3009T>C (p.Pro1003=) c.2991T>C (p.Pro997=) c.2928T>C (p.Pro976=) | |
11 | g.47333738A>T | CA474429296 | MYBPC3 | c.3009T>A (p.Pro1003=) c.2991T>A (p.Pro997=) c.2928T>A (p.Pro976=) | |
11 | g.47333739G>A | CA380315670 | MYBPC3 | c.3008C>T (p.Pro1003Leu) c.2990C>T (p.Pro997Leu) c.2927C>T (p.Pro976Leu) | dbSNP gnomAD v4 |
11 | g.47333739G>C | CA380315671 | MYBPC3 | c.3008C>G (p.Pro1003Arg) c.2990C>G (p.Pro997Arg) c.2927C>G (p.Pro976Arg) | |
11 | g.47333739G= | CA1969335964 | MYBPC3 | c.3008C= (p.Pro1003=) c.2990C= (p.Pro997=) c.2927C= (p.Pro976=) | |
11 | g.47333739G>T | CA380315673 | MYBPC3 | c.3008C>A (p.Pro1003His) c.2990C>A (p.Pro997His) c.2927C>A (p.Pro976His) | gnomAD v4 |
11 | g.47333740G>A | CA380315675 | MYBPC3 | c.3007C>T (p.Pro1003Ser) c.2989C>T (p.Pro997Ser) c.2926C>T (p.Pro976Ser) | |
11 | g.47333740G>C | CA380315677 | MYBPC3 | c.3007C>G (p.Pro1003Ala) c.2989C>G (p.Pro997Ala) c.2926C>G (p.Pro976Ala) | |
11 | g.47333740G>T | CA380315679 | MYBPC3 | c.3007C>A (p.Pro1003Thr) c.2989C>A (p.Pro997Thr) c.2926C>A (p.Pro976Thr) | gnomAD v4 |
11 | g.47333741C>A | CA474429297 | MYBPC3 | c.3006G>T (p.Arg1002=) c.2988G>T (p.Arg996=) c.2925G>T (p.Arg975=) | gnomAD v4 |
11 | g.47333741C>G | CA474429298 | MYBPC3 | c.3006G>C (p.Arg1002=) c.2988G>C (p.Arg996=) c.2925G>C (p.Arg975=) | |
11 | g.47333741C>T | CA474429299 | MYBPC3 | c.3006G>A (p.Arg1002=) c.2988G>A (p.Arg996=) c.2925G>A (p.Arg975=) | ClinVar gnomAD v4 |
11 | g.47333742C>A | CA380315680 | MYBPC3 | c.3005G>T (p.Arg1002Leu) c.2987G>T (p.Arg996Leu) c.2924G>T (p.Arg975Leu) | |
11 | g.47333742C= | CA1969335965 | MYBPC3 | c.3005G= (p.Arg1002=) c.2987G= (p.Arg996=) c.2924G= (p.Arg975=) | |
11 | g.47333742C>G | CA380315682 | MYBPC3 | c.3005G>C (p.Arg1002Pro) c.2987G>C (p.Arg996Pro) c.2924G>C (p.Arg975Pro) | |
11 | g.47333742C>T | CA013325 | MYBPC3 | c.3005G>A (p.Arg1002Gln) c.2987G>A (p.Arg996Gln) c.2924G>A (p.Arg975Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47333742_47333743del | CA2697548545 | MYBPC3 | c.3004_3005del (p.Arg1002AlafsTer?) c.2986_2987del (p.Arg996AlafsTer?) c.2923_2924del (p.Arg975AlafsTer?) | ClinVar |
11 | g.47333743G>A | CA013316 | MYBPC3 | c.3004C>T (p.Arg1002Trp) c.2986C>T (p.Arg996Trp) c.2923C>T (p.Arg975Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333743G>C | CA380315685 | MYBPC3 | c.3004C>G (p.Arg1002Gly) c.2986C>G (p.Arg996Gly) c.2923C>G (p.Arg975Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333743G= | CA1969335968 | MYBPC3 | c.3004C= (p.Arg1002=) c.2986C= (p.Arg996=) c.2923C= (p.Arg975=) | |
11 | g.47333743G>T | CA474429300 | MYBPC3 | c.3004C>A (p.Arg1002=) c.2986C>A (p.Arg996=) c.2923C>A (p.Arg975=) | gnomAD v4 |
11 | g.47333746del | CA2613394187 | MYBPC3 | c.3004del (p.Arg1002GlyfsTer4) c.2986del (p.Arg996GlyfsTer4) c.2923del (p.Arg975GlyfsTer4) | gnomAD v4 |
11 | g.47333744G>A | CA013310 | MYBPC3 | c.3003C>T (p.Pro1001=) c.2985C>T (p.Pro995=) c.2922C>T (p.Pro974=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333744G>C | CA474429301 | MYBPC3 | c.3003C>G (p.Pro1001=) c.2985C>G (p.Pro995=) c.2922C>G (p.Pro974=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333744G= | CA1969335970 | MYBPC3 | c.3003C= (p.Pro1001=) c.2985C= (p.Pro995=) c.2922C= (p.Pro974=) | |
11 | g.47333744G>T | CA474429302 | MYBPC3 | c.3003C>A (p.Pro1001=) c.2985C>A (p.Pro995=) c.2922C>A (p.Pro974=) | |
11 | g.47333745G>A | CA380315688 | MYBPC3 | c.3002C>T (p.Pro1001Leu) c.2984C>T (p.Pro995Leu) c.2921C>T (p.Pro974Leu) | COSMIC COSMIC |
11 | g.47333745G>C | CA380315689 | MYBPC3 | c.3002C>G (p.Pro1001Arg) c.2984C>G (p.Pro995Arg) c.2921C>G (p.Pro974Arg) | |
11 | g.47333745G>T | CA380315690 | MYBPC3 | c.3002C>A (p.Pro1001His) c.2984C>A (p.Pro995His) c.2921C>A (p.Pro974His) | gnomAD v4 |
11 | g.47333746G>A | CA052267 | MYBPC3 | c.3001C>T (p.Pro1001Ser) c.2983C>T (p.Pro995Ser) c.2920C>T (p.Pro974Ser) | gnomAD v4 |
11 | g.47333746G>C | CA380315692 | MYBPC3 | c.3001C>G (p.Pro1001Ala) c.2983C>G (p.Pro995Ala) c.2920C>G (p.Pro974Ala) | |
11 | g.47333746G= | CA1969335972 | MYBPC3 | c.3001C= (p.Pro1001=) c.2983C= (p.Pro995=) c.2920C= (p.Pro974=) | |
11 | g.47333746G>T | CA380315693 | MYBPC3 | c.3001C>A (p.Pro1001Thr) c.2983C>A (p.Pro995Thr) c.2920C>A (p.Pro974Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333746_47333751del | CA2613394204 | MYBPC3 | c.2996_3001del (p.Gly999_Pro1001delinsAla) c.2978_2983del (p.Gly993_Pro995delinsAla) c.2915_2920del (p.Gly972_Pro974delinsAla) | gnomAD v4 |
11 | g.47333747C>A | CA380315694 | MYBPC3 | c.3000G>T (p.Lys1000Asn) c.2982G>T (p.Lys994Asn) c.2919G>T (p.Lys973Asn) | gnomAD v4 |
11 | g.47333747C= | CA1969335974 | MYBPC3 | c.3000G= (p.Lys1000=) c.2982G= (p.Lys994=) c.2919G= (p.Lys973=) | |
11 | g.47333747C>G | CA380315696 | MYBPC3 | c.3000G>C (p.Lys1000Asn) c.2982G>C (p.Lys994Asn) c.2919G>C (p.Lys973Asn) | |
11 | g.47333747C>T | CA474429303 | MYBPC3 | c.3000G>A (p.Lys1000=) c.2982G>A (p.Lys994=) c.2919G>A (p.Lys973=) | ClinVar dbSNP gnomAD v4 |
11 | g.47333748T>A | CA380315701 | MYBPC3 | c.2999A>T (p.Lys1000Met) c.2981A>T (p.Lys994Met) c.2918A>T (p.Lys973Met) | |
11 | g.47333748T>C | CA380315700 | MYBPC3 | c.2999A>G (p.Lys1000Arg) c.2981A>G (p.Lys994Arg) c.2918A>G (p.Lys973Arg) | ClinVar |
11 | g.47333748T>G | CA380315698 | MYBPC3 | c.2999A>C (p.Lys1000Thr) c.2981A>C (p.Lys994Thr) c.2918A>C (p.Lys973Thr) | |
11 | g.47333749T>A | CA380315703 | MYBPC3 | c.2998A>T (p.Lys1000Ter) c.2980A>T (p.Lys994Ter) c.2917A>T (p.Lys973Ter) | |
11 | g.47333749T>C | CA380315705 | MYBPC3 | c.2998A>G (p.Lys1000Glu) c.2980A>G (p.Lys994Glu) c.2917A>G (p.Lys973Glu) | COSMIC COSMIC |
11 | g.47333749T>G | CA380315707 | MYBPC3 | c.2998A>C (p.Lys1000Gln) c.2980A>C (p.Lys994Gln) c.2917A>C (p.Lys973Gln) | |
11 | g.47333750del | CA2695213950 | MYBPC3 | c.2997del (p.Lys1000SerfsTer6) c.2979del (p.Lys994SerfsTer6) c.2916del (p.Lys973SerfsTer6) | |
11 | g.47333750G>A | CA013301 | MYBPC3 | c.2997C>T (p.Gly999=) c.2979C>T (p.Gly993=) c.2916C>T (p.Gly972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333750G>C | CA474429304 | MYBPC3 | c.2997C>G (p.Gly999=) c.2979C>G (p.Gly993=) c.2916C>G (p.Gly972=) | |
11 | g.47333750G= | CA1969335976 | MYBPC3 | c.2997C= (p.Gly999=) c.2979C= (p.Gly993=) c.2916C= (p.Gly972=) | |
11 | g.47333750G>T | CA474429305 | MYBPC3 | c.2997C>A (p.Gly999=) c.2979C>A (p.Gly993=) c.2916C>A (p.Gly972=) | gnomAD v4 |
11 | g.47333751C>A | CA380315708 | MYBPC3 | c.2996G>T (p.Gly999Val) c.2978G>T (p.Gly993Val) c.2915G>T (p.Gly972Val) | gnomAD v4 |
11 | g.47333751C>G | CA380315709 | MYBPC3 | c.2996G>C (p.Gly999Ala) c.2978G>C (p.Gly993Ala) c.2915G>C (p.Gly972Ala) | |
11 | g.47333751C>T | CA380315710 | MYBPC3 | c.2996G>A (p.Gly999Asp) c.2978G>A (p.Gly993Asp) c.2915G>A (p.Gly972Asp) | gnomAD v4 |
11 | g.47333753dup | CA913187679 | MYBPC3 | c.2996dup c.2978dup c.2915dup | ClinVar |
11 | g.47333752C>A | CA380315712 | MYBPC3 | c.2995G>T (p.Gly999Cys) c.2977G>T (p.Gly993Cys) c.2914G>T (p.Gly972Cys) | |
11 | g.47333752C= | CA1969335979 | MYBPC3 | c.2995G= (p.Gly999=) c.2977G= (p.Gly993=) c.2914G= (p.Gly972=) | |
11 | g.47333752C>G | CA380315714 | MYBPC3 | c.2995G>C (p.Gly999Arg) c.2977G>C (p.Gly993Arg) c.2914G>C (p.Gly972Arg) | |
11 | g.47333752C>T | CA380315715 | MYBPC3 | c.2995G>A (p.Gly999Ser) c.2977G>A (p.Gly993Ser) c.2914G>A (p.Gly972Ser) | dbSNP |
11 | g.47333753C>A | CA380315717 | MYBPC3 | c.2995-1G>T (n.2995-1G>T) c.2977-1G>T (n.2977-1G>T) c.2914-1G>T (n.2914-1G>T) | gnomAD v4 |
11 | g.47333753C= | CA1969335981 | MYBPC3 | c.2995-1G= (n.2995-1G=) c.2977-1G= (n.2977-1G=) c.2914-1G= (n.2914-1G=) | |
11 | g.47333753C>G | CA380315719 | MYBPC3 | c.2995-1G>C (n.2995-1G>C) c.2977-1G>C (n.2977-1G>C) c.2914-1G>C (n.2914-1G>C) | |
11 | g.47333753C>T | CA013288 | MYBPC3 | c.2995-1G>A (n.2995-1G>A) c.2977-1G>A (n.2977-1G>A) c.2914-1G>A (n.2914-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333753_47333754del | CA2573053505 | MYBPC3 | c.2995-2_2995-1del (n.2995-2_2995-1del) c.2977-2_2977-1del (n.2977-2_2977-1del) c.2914-2_2914-1del (n.2914-2_2914-1del) | ClinVar dbSNP |
11 | g.47333754T>A | CA380315725 | MYBPC3 | c.2995-2A>T (n.2995-2A>T) c.2977-2A>T (n.2977-2A>T) c.2914-2A>T (n.2914-2A>T) | |
11 | g.47333754T>C | CA380315722 | MYBPC3 | c.2995-2A>G (n.2995-2A>G) c.2977-2A>G (n.2977-2A>G) c.2914-2A>G (n.2914-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333754T>G | CA380315724 | MYBPC3 | c.2995-2A>C (n.2995-2A>C) c.2977-2A>C (n.2977-2A>C) c.2914-2A>C (n.2914-2A>C) | |
11 | g.47333754T= | CA1969335983 | MYBPC3 | c.2995-2A= (n.2995-2A=) c.2977-2A= (n.2977-2A=) c.2914-2A= (n.2914-2A=) | |
11 | g.47333755G>C | CA676991690 | MYBPC3 | c.2995-3C>G (n.2995-3C>G) c.2977-3C>G (n.2977-3C>G) c.2914-3C>G (n.2914-3C>G) | dbSNP |
11 | g.47333755G= | CA1969335984 | MYBPC3 | c.2995-3C= (n.2995-3C=) c.2977-3C= (n.2977-3C=) c.2914-3C= (n.2914-3C=) | |
11 | g.47333757G>C | CA013296 | MYBPC3 | c.2995-5C>G (n.2995-5C>G) c.2977-5C>G (n.2977-5C>G) c.2914-5C>G (n.2914-5C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333757G= | CA1969335986 | MYBPC3 | c.2995-5C= (n.2995-5C=) c.2977-5C= (n.2977-5C=) c.2914-5C= (n.2914-5C=) | |
11 | g.47333757G>T | CA2613394228 | MYBPC3 | c.2995-5C>A (n.2995-5C>A) c.2977-5C>A (n.2977-5C>A) c.2914-5C>A (n.2914-5C>A) | gnomAD v4 |
11 | g.47333760del | CA2613394225 | MYBPC3 | c.2995-5del (n.2995-5del) c.2977-5del (n.2977-5del) c.2914-5del (n.2914-5del) | gnomAD v4 |
11 | g.47333758G>A | CA2613394230 | MYBPC3 | c.2995-6C>T (n.2995-6C>T) c.2977-6C>T (n.2977-6C>T) c.2914-6C>T (n.2914-6C>T) | gnomAD v4 |
11 | g.47333759G>C | CA2573146371 | MYBPC3 | c.2995-7C>G (n.2995-7C>G) c.2977-7C>G (n.2977-7C>G) c.2914-7C>G (n.2914-7C>G) | ClinVar dbSNP |
11 | g.47333759G>T | CA2613394231 | MYBPC3 | c.2995-7C>A (n.2995-7C>A) c.2977-7C>A (n.2977-7C>A) c.2914-7C>A (n.2914-7C>A) | gnomAD v4 |
11 | g.47333760G>A | CA1969335988 | MYBPC3 | c.2995-8C>T (n.2995-8C>T) c.2977-8C>T (n.2977-8C>T) c.2914-8C>T (n.2914-8C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47333760G= | CA1969335987 | MYBPC3 | c.2995-8C= (n.2995-8C=) c.2977-8C= (n.2977-8C=) c.2914-8C= (n.2914-8C=) | |
11 | g.47333761A= | CA1969335990 | MYBPC3 | c.2995-9T= (n.2995-9T=) c.2977-9T= (n.2977-9T=) c.2914-9T= (n.2914-9T=) | |
11 | g.47333761A>G | CA2613394234 | MYBPC3 | c.2995-9T>C (n.2995-9T>C) c.2977-9T>C (n.2977-9T>C) c.2914-9T>C (n.2914-9T>C) | gnomAD v4 |
11 | g.47333761A>T | CA599374172 | MYBPC3 | c.2995-9T>A (n.2995-9T>A) c.2977-9T>A (n.2977-9T>A) c.2914-9T>A (n.2914-9T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333762G>A | CA1139659392 | MYBPC3 | c.2995-10C>T (n.2995-10C>T) c.2977-10C>T (n.2977-10C>T) c.2914-10C>T (n.2914-10C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47333762G>C | CA2613394236 | MYBPC3 | c.2995-10C>G (n.2995-10C>G) c.2977-10C>G (n.2977-10C>G) c.2914-10C>G (n.2914-10C>G) | gnomAD v4 |
11 | g.47333762G= | CA1969335991 | MYBPC3 | c.2995-10C= (n.2995-10C=) c.2977-10C= (n.2977-10C=) c.2914-10C= (n.2914-10C=) | |
11 | g.47333762G>T | CA2613394238 | MYBPC3 | c.2995-10C>A (n.2995-10C>A) c.2977-10C>A (n.2977-10C>A) c.2914-10C>A (n.2914-10C>A) | gnomAD v4 |
11 | g.47333763G>T | CA2613394239 | MYBPC3 | c.2995-11C>A (n.2995-11C>A) c.2977-11C>A (n.2977-11C>A) c.2914-11C>A (n.2914-11C>A) | gnomAD v4 |
11 | g.47333764A= | CA1969335992 | MYBPC3 | c.2995-12T= (n.2995-12T=) c.2977-12T= (n.2977-12T=) c.2914-12T= (n.2914-12T=) | |
11 | g.47333764A>G | CA079072 | MYBPC3 | c.2995-12T>C (n.2995-12T>C) c.2977-12T>C (n.2977-12T>C) c.2914-12T>C (n.2914-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333767del | CA2613394240 | MYBPC3 | c.2995-12del (n.2995-12del) c.2977-12del (n.2977-12del) c.2914-12del (n.2914-12del) | gnomAD v4 |
11 | g.47333766A= | CA1969335993 | MYBPC3 | c.2995-14T= (n.2995-14T=) c.2977-14T= (n.2977-14T=) c.2914-14T= (n.2914-14T=) | |
11 | g.47333766A>G | CA1969335994 | MYBPC3 | c.2995-14T>C (n.2995-14T>C) c.2977-14T>C (n.2977-14T>C) c.2914-14T>C (n.2914-14T>C) | ClinVar dbSNP |
11 | g.47333768G>A | CA2613394242 | MYBPC3 | c.2995-16C>T (n.2995-16C>T) c.2977-16C>T (n.2977-16C>T) c.2914-16C>T (n.2914-16C>T) | gnomAD v4 |
11 | g.47333768G>T | CA2613394244 | MYBPC3 | c.2995-16C>A (n.2995-16C>A) c.2977-16C>A (n.2977-16C>A) c.2914-16C>A (n.2914-16C>A) | gnomAD v4 |
11 | g.47333769C>A | CA2613394247 | MYBPC3 | c.2995-17G>T (n.2995-17G>T) c.2977-17G>T (n.2977-17G>T) c.2914-17G>T (n.2914-17G>T) | gnomAD v4 |
11 | g.47333769C= | CA1969335996 | MYBPC3 | c.2995-17G= (n.2995-17G=) c.2977-17G= (n.2977-17G=) c.2914-17G= (n.2914-17G=) | |
11 | g.47333769C>T | CA599374173 | MYBPC3 | c.2995-17G>A (n.2995-17G>A) c.2977-17G>A (n.2977-17G>A) c.2914-17G>A (n.2914-17G>A) | dbSNP gnomAD v2 |
11 | g.47333771T>G | CA1969335998 | MYBPC3 | c.2995-19A>C (n.2995-19A>C) c.2977-19A>C (n.2977-19A>C) c.2914-19A>C (n.2914-19A>C) | ClinVar dbSNP gnomAD v4 |
11 | g.47333771T= | CA1969335997 | MYBPC3 | c.2995-19A= (n.2995-19A=) c.2977-19A= (n.2977-19A=) c.2914-19A= (n.2914-19A=) | |
11 | g.47333773A>T | CA2613394251 | MYBPC3 | c.2995-21T>A (n.2995-21T>A) c.2977-21T>A (n.2977-21T>A) c.2914-21T>A (n.2914-21T>A) | gnomAD v4 |
11 | g.47333774C>A | CA2613394252 | MYBPC3 | c.2995-22G>T (n.2995-22G>T) c.2977-22G>T (n.2977-22G>T) c.2914-22G>T (n.2914-22G>T) | gnomAD v4 |
11 | g.47333774C= | CA1969335999 | MYBPC3 | c.2995-22G= (n.2995-22G=) c.2977-22G= (n.2977-22G=) c.2914-22G= (n.2914-22G=) | |
11 | g.47333774C>T | CA937666372 | MYBPC3 | c.2995-22G>A (n.2995-22G>A) c.2977-22G>A (n.2977-22G>A) c.2914-22G>A (n.2914-22G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333775C>A | CA2613394253 | MYBPC3 | c.2995-23G>T (n.2995-23G>T) c.2977-23G>T (n.2977-23G>T) c.2914-23G>T (n.2914-23G>T) | gnomAD v4 |
11 | g.47333775C>T | CA2499361063 | MYBPC3 | c.2995-23G>A (n.2995-23G>A) c.2977-23G>A (n.2977-23G>A) c.2914-23G>A (n.2914-23G>A) | gnomAD v4 |
11 | g.47333776C>A | CA2613394255 | MYBPC3 | c.2995-24G>T (n.2995-24G>T) c.2977-24G>T (n.2977-24G>T) c.2914-24G>T (n.2914-24G>T) | gnomAD v4 |
11 | g.47333777T>C | CA2613394257 | MYBPC3 | c.2995-25A>G (n.2995-25A>G) c.2977-25A>G (n.2977-25A>G) c.2914-25A>G (n.2914-25A>G) | gnomAD v4 |
11 | g.47333778G>T | CA2613394258 | MYBPC3 | c.2995-26C>A (n.2995-26C>A) c.2977-26C>A (n.2977-26C>A) c.2914-26C>A (n.2914-26C>A) | gnomAD v4 |
11 | g.47333781C= | CA1969336000 | MYBPC3 | c.2995-29G= (n.2995-29G=) c.2977-29G= (n.2977-29G=) c.2914-29G= (n.2914-29G=) | |
11 | g.47333781C>T | CA1969336001 | MYBPC3 | c.2995-29G>A (n.2995-29G>A) c.2977-29G>A (n.2977-29G>A) c.2914-29G>A (n.2914-29G>A) | dbSNP gnomAD v4 |
11 | g.47333782C>T | CA2613394259 | MYBPC3 | c.2995-30G>A (n.2995-30G>A) c.2977-30G>A (n.2977-30G>A) c.2914-30G>A (n.2914-30G>A) | gnomAD v4 |
11 | g.47333783T>G | CA2724174500 | MYBPC3 | c.2995-31A>C (n.2995-31A>C) c.2977-31A>C (n.2977-31A>C) c.2914-31A>C (n.2914-31A>C) | dbSNP |
11 | g.47333784G>T | CA2613394261 | MYBPC3 | c.2995-32C>A (n.2995-32C>A) c.2977-32C>A (n.2977-32C>A) c.2914-32C>A (n.2914-32C>A) | gnomAD v4 |
11 | g.47333785G>T | CA2613394262 | MYBPC3 | c.2995-33C>A (n.2995-33C>A) c.2977-33C>A (n.2977-33C>A) c.2914-33C>A (n.2914-33C>A) | gnomAD v4 |
11 | g.47333788C>A | CA2565695536 | MYBPC3 | c.2995-36G>T (n.2995-36G>T) c.2977-36G>T (n.2977-36G>T) c.2914-36G>T (n.2914-36G>T) | |
11 | g.47333789A>C | CA2613394263 | MYBPC3 | c.2995-37T>G (n.2995-37T>G) c.2977-37T>G (n.2977-37T>G) c.2914-37T>G (n.2914-37T>G) | gnomAD v4 |
11 | g.47333790C>A | CA2613394264 | MYBPC3 | c.2995-38G>T (n.2995-38G>T) c.2977-38G>T (n.2977-38G>T) c.2914-38G>T (n.2914-38G>T) | gnomAD v4 |
11 | g.47333790C= | CA1969336002 | MYBPC3 | c.2995-38G= (n.2995-38G=) c.2977-38G= (n.2977-38G=) c.2914-38G= (n.2914-38G=) | |
11 | g.47333790C>T | CA599374174 | MYBPC3 | c.2995-38G>A (n.2995-38G>A) c.2977-38G>A (n.2977-38G>A) c.2914-38G>A (n.2914-38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333791T>C | CA079073 | MYBPC3 | c.2995-39A>G (n.2995-39A>G) c.2977-39A>G (n.2977-39A>G) c.2914-39A>G (n.2914-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333791T= | CA1969336003 | MYBPC3 | c.2995-39A= (n.2995-39A=) c.2977-39A= (n.2977-39A=) c.2914-39A= (n.2914-39A=) | |
11 | g.47333792C>A | CA2613394267 | MYBPC3 | c.2995-40G>T (n.2995-40G>T) c.2977-40G>T (n.2977-40G>T) c.2914-40G>T (n.2914-40G>T) | gnomAD v4 |
11 | g.47333792C>T | CA2613394266 | MYBPC3 | c.2995-40G>A (n.2995-40G>A) c.2977-40G>A (n.2977-40G>A) c.2914-40G>A (n.2914-40G>A) | gnomAD v4 |
11 | g.47333793C>G | CA2613394268 | MYBPC3 | c.2995-41G>C (n.2995-41G>C) c.2977-41G>C (n.2977-41G>C) c.2914-41G>C (n.2914-41G>C) | gnomAD v4 |
11 | g.47333796G>A | CA2613394270 | MYBPC3 | c.2995-44C>T (n.2995-44C>T) c.2977-44C>T (n.2977-44C>T) c.2914-44C>T (n.2914-44C>T) | gnomAD v4 |
11 | g.47333796G>T | CA2613394272 | MYBPC3 | c.2995-44C>A (n.2995-44C>A) c.2977-44C>A (n.2977-44C>A) c.2914-44C>A (n.2914-44C>A) | gnomAD v4 |
11 | g.47333798dup | CA2613394271 | MYBPC3 | c.2995-44dup (n.2995-44dup) c.2977-44dup (n.2977-44dup) c.2914-44dup (n.2914-44dup) | gnomAD v4 |
11 | g.47333797G>A | CA079075 | MYBPC3 | c.2995-45C>T (n.2995-45C>T) c.2977-45C>T (n.2977-45C>T) c.2914-45C>T (n.2914-45C>T) | dbSNP ExAC gnomAD v4 |
11 | g.47333797G= | CA1969336005 | MYBPC3 | c.2995-45C= (n.2995-45C=) c.2977-45C= (n.2977-45C=) c.2914-45C= (n.2914-45C=) | |
11 | g.47333798G>A | CA676991707 | MYBPC3 | c.2995-46C>T (n.2995-46C>T) c.2977-46C>T (n.2977-46C>T) c.2914-46C>T (n.2914-46C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333798G= | CA1969336006 | MYBPC3 | c.2995-46C= (n.2995-46C=) c.2977-46C= (n.2977-46C=) c.2914-46C= (n.2914-46C=) | |
11 | g.47333798G>T | CA2613394276 | MYBPC3 | c.2995-46C>A (n.2995-46C>A) c.2977-46C>A (n.2977-46C>A) c.2914-46C>A (n.2914-46C>A) | gnomAD v4 |
11 | g.47333799C>A | CA2613394277 | MYBPC3 | c.2995-47G>T (n.2995-47G>T) c.2977-47G>T (n.2977-47G>T) c.2914-47G>T (n.2914-47G>T) | gnomAD v4 |
11 | g.47333799C>T | CA2791331136 | MYBPC3 | c.2995-47G>A (n.2995-47G>A) c.2977-47G>A (n.2977-47G>A) c.2914-47G>A (n.2914-47G>A) | |
11 | g.47333800C>A | CA1969336008 | MYBPC3 | c.2995-48G>T (n.2995-48G>T) c.2977-48G>T (n.2977-48G>T) c.2914-48G>T (n.2914-48G>T) | dbSNP gnomAD v4 |
11 | g.47333800C= | CA1969336007 | MYBPC3 | c.2995-48G= (n.2995-48G=) c.2977-48G= (n.2977-48G=) c.2914-48G= (n.2914-48G=) | |
11 | g.47333800C>T | CA079077 | MYBPC3 | c.2995-48G>A (n.2995-48G>A) c.2977-48G>A (n.2977-48G>A) c.2914-48G>A (n.2914-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333801G>A | CA079079 | MYBPC3 | c.2995-49C>T (n.2995-49C>T) c.2977-49C>T (n.2977-49C>T) c.2914-49C>T (n.2914-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333801G= | CA1969336010 | MYBPC3 | c.2995-49C= (n.2995-49C=) c.2977-49C= (n.2977-49C=) c.2914-49C= (n.2914-49C=) | |
11 | g.47333801G>T | CA2613394280 | MYBPC3 | c.2995-49C>A (n.2995-49C>A) c.2977-49C>A (n.2977-49C>A) c.2914-49C>A (n.2914-49C>A) | gnomAD v4 |
11 | g.47333802G>A | CA599374175 | MYBPC3 | c.2995-50C>T (n.2995-50C>T) c.2977-50C>T (n.2977-50C>T) c.2914-50C>T (n.2914-50C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333802G>C | CA2596115253 | MYBPC3 | c.2995-50C>G (n.2995-50C>G) c.2977-50C>G (n.2977-50C>G) c.2914-50C>G (n.2914-50C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333802G= | CA1969336012 | MYBPC3 | c.2995-50C= (n.2995-50C=) c.2977-50C= (n.2977-50C=) c.2914-50C= (n.2914-50C=) | |
11 | g.47333802G>T | CA2613394284 | MYBPC3 | c.2995-50C>A (n.2995-50C>A) c.2977-50C>A (n.2977-50C>A) c.2914-50C>A (n.2914-50C>A) | gnomAD v4 |
11 | g.47333803C>A | CA2613394285 | MYBPC3 | c.2995-51G>T (n.2995-51G>T) c.2977-51G>T (n.2977-51G>T) c.2914-51G>T (n.2914-51G>T) | gnomAD v4 |
11 | g.47333803C>T | CA2613394287 | MYBPC3 | c.2995-51G>A (n.2995-51G>A) c.2977-51G>A (n.2977-51G>A) c.2914-51G>A (n.2914-51G>A) | gnomAD v4 |
11 | g.47333804C>A | CA2613394288 | MYBPC3 | c.2995-52G>T (n.2995-52G>T) c.2977-52G>T (n.2977-52G>T) c.2914-52G>T (n.2914-52G>T) | gnomAD v4 |
11 | g.47333804C= | CA1969336014 | MYBPC3 | c.2995-52G= (n.2995-52G=) c.2977-52G= (n.2977-52G=) c.2914-52G= (n.2914-52G=) | |
11 | g.47333804C>T | CA221682985 | MYBPC3 | c.2995-52G>A (n.2995-52G>A) c.2977-52G>A (n.2977-52G>A) c.2914-52G>A (n.2914-52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333805G>A | CA676991715 | MYBPC3 | c.2995-53C>T (n.2995-53C>T) c.2977-53C>T (n.2977-53C>T) c.2914-53C>T (n.2914-53C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333805G= | CA1969336016 | MYBPC3 | c.2995-53C= (n.2995-53C=) c.2977-53C= (n.2977-53C=) c.2914-53C= (n.2914-53C=) | |
11 | g.47333805G>T | CA2613394293 | MYBPC3 | c.2995-53C>A (n.2995-53C>A) c.2977-53C>A (n.2977-53C>A) c.2914-53C>A (n.2914-53C>A) | gnomAD v4 |
11 | g.47333805_47333808dup | CA2613394292 | MYBPC3 | c.2995-56_2995-53dup (n.2995-56_2995-53dup) c.2977-56_2977-53dup (n.2977-56_2977-53dup) c.2914-56_2914-53dup (n.2914-56_2914-53dup) | gnomAD v4 |
11 | g.47333806C>A | CA2613394295 | MYBPC3 | c.2995-54G>T (n.2995-54G>T) c.2977-54G>T (n.2977-54G>T) c.2914-54G>T (n.2914-54G>T) | gnomAD v4 |
11 | g.47333808A>C | CA2613394297 | MYBPC3 | c.2995-56T>G (n.2995-56T>G) c.2977-56T>G (n.2977-56T>G) c.2914-56T>G (n.2914-56T>G) | gnomAD v4 |
11 | g.47333809C>A | CA2613394300 | MYBPC3 | c.2995-57G>T (n.2995-57G>T) c.2977-57G>T (n.2977-57G>T) c.2914-57G>T (n.2914-57G>T) | gnomAD v4 |
11 | g.47333809C>T | CA2613394301 | MYBPC3 | c.2995-57G>A (n.2995-57G>A) c.2977-57G>A (n.2977-57G>A) c.2914-57G>A (n.2914-57G>A) | gnomAD v4 |
11 | g.47333812del | CA2613394298 | MYBPC3 | c.2995-57del (n.2995-57del) c.2977-57del (n.2977-57del) c.2914-57del (n.2914-57del) | gnomAD v4 |
11 | g.47333810C>A | CA2613394304 | MYBPC3 | c.2995-58G>T (n.2995-58G>T) c.2977-58G>T (n.2977-58G>T) c.2914-58G>T (n.2914-58G>T) | gnomAD v4 |
11 | g.47333811C>A | CA2613394305 | MYBPC3 | c.2995-59G>T (n.2995-59G>T) c.2977-59G>T (n.2977-59G>T) c.2914-59G>T (n.2914-59G>T) | gnomAD v4 |
11 | g.47333812C>A | CA2613394306 | MYBPC3 | c.2995-60G>T (n.2995-60G>T) c.2977-60G>T (n.2977-60G>T) c.2914-60G>T (n.2914-60G>T) | gnomAD v4 |
11 | g.47333812C>T | CA2613394307 | MYBPC3 | c.2995-60G>A (n.2995-60G>A) c.2977-60G>A (n.2977-60G>A) c.2914-60G>A (n.2914-60G>A) | gnomAD v4 |