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.47332652G>A | CA380312647 | MYBPC3 | c.3541C>T (p.Pro1181Ser) c.3523C>T (p.Pro1175Ser) c.3460C>T (p.Pro1154Ser) | |
11 | g.47332652G>C | CA014307 | MYBPC3 | c.3541C>G (p.Pro1181Ala) c.3523C>G (p.Pro1175Ala) c.3460C>G (p.Pro1154Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332652G= | CA1969334353 | MYBPC3 | c.3541C= (p.Pro1181=) c.3523C= (p.Pro1175=) c.3460C= (p.Pro1154=) | |
11 | g.47332652G>T | CA380312649 | MYBPC3 | c.3541C>A (p.Pro1181Thr) c.3523C>A (p.Pro1175Thr) c.3460C>A (p.Pro1154Thr) | |
11 | g.47332653G>A | CA474428970 | MYBPC3 | c.3540C>T (p.Ala1180=) c.3522C>T (p.Ala1174=) c.3459C>T (p.Ala1153=) | |
11 | g.47332653G>C | CA474428971 | MYBPC3 | c.3540C>G (p.Ala1180=) c.3522C>G (p.Ala1174=) c.3459C>G (p.Ala1153=) | gnomAD v4 |
11 | g.47332653G>T | CA474428972 | MYBPC3 | c.3540C>A (p.Ala1180=) c.3522C>A (p.Ala1174=) c.3459C>A (p.Ala1153=) | |
11 | g.47332654G>A | CA380312652 | MYBPC3 | c.3539C>T (p.Ala1180Val) c.3521C>T (p.Ala1174Val) c.3458C>T (p.Ala1153Val) | dbSNP |
11 | g.47332654G>C | CA380312654 | MYBPC3 | c.3539C>G (p.Ala1180Gly) c.3521C>G (p.Ala1174Gly) c.3458C>G (p.Ala1153Gly) | |
11 | g.47332654G= | CA1969334359 | MYBPC3 | c.3539C= (p.Ala1180=) c.3521C= (p.Ala1174=) c.3458C= (p.Ala1153=) | |
11 | g.47332654G>T | CA380312656 | MYBPC3 | c.3539C>A (p.Ala1180Asp) c.3521C>A (p.Ala1174Asp) c.3458C>A (p.Ala1153Asp) | |
11 | g.47332655C>A | CA380312662 | MYBPC3 | c.3538G>T (p.Ala1180Ser) c.3520G>T (p.Ala1174Ser) c.3457G>T (p.Ala1153Ser) | |
11 | g.47332655C>G | CA380312667 | MYBPC3 | c.3538G>C (p.Ala1180Pro) c.3520G>C (p.Ala1174Pro) c.3457G>C (p.Ala1153Pro) | |
11 | g.47332655C>T | CA380312660 | MYBPC3 | c.3538G>A (p.Ala1180Thr) c.3520G>A (p.Ala1174Thr) c.3457G>A (p.Ala1153Thr) | ClinVar dbSNP |
11 | g.47332656C>A | CA380312673 | MYBPC3 | c.3537G>T (p.Glu1179Asp) c.3519G>T (p.Glu1173Asp) c.3456G>T (p.Glu1152Asp) | |
11 | g.47332656C= | CA1969334363 | MYBPC3 | c.3537G= (p.Glu1179=) c.3519G= (p.Glu1173=) c.3456G= (p.Glu1152=) | |
11 | g.47332656C>G | CA380312671 | MYBPC3 | c.3537G>C (p.Glu1179Asp) c.3519G>C (p.Glu1173Asp) c.3456G>C (p.Glu1152Asp) | |
11 | g.47332656C>T | CA474428973 | MYBPC3 | c.3537G>A (p.Glu1179=) c.3519G>A (p.Glu1173=) c.3456G>A (p.Glu1152=) | dbSNP gnomAD v4 |
11 | g.47332657T>A | CA380312676 | MYBPC3 | c.3536A>T (p.Glu1179Val) c.3518A>T (p.Glu1173Val) c.3455A>T (p.Glu1152Val) | |
11 | g.47332657T>C | CA380312679 | MYBPC3 | c.3536A>G (p.Glu1179Gly) c.3518A>G (p.Glu1173Gly) c.3455A>G (p.Glu1152Gly) | |
11 | g.47332657T>G | CA380312681 | MYBPC3 | c.3536A>C (p.Glu1179Ala) c.3518A>C (p.Glu1173Ala) c.3455A>C (p.Glu1152Ala) | |
11 | g.47332658C>A | CA380312684 | MYBPC3 | c.3535G>T (p.Glu1179Ter) c.3517G>T (p.Glu1173Ter) c.3454G>T (p.Glu1152Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332658C= | CA1969334368 | MYBPC3 | c.3535G= (p.Glu1179=) c.3517G= (p.Glu1173=) c.3454G= (p.Glu1152=) | |
11 | g.47332658C>G | CA380312686 | MYBPC3 | c.3535G>C (p.Glu1179Gln) c.3517G>C (p.Glu1173Gln) c.3454G>C (p.Glu1152Gln) | |
11 | g.47332658C>T | CA014298 | MYBPC3 | c.3535G>A (p.Glu1179Lys) c.3517G>A (p.Glu1173Lys) c.3454G>A (p.Glu1152Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332659G>A | CA079428 | MYBPC3 | c.3534C>T (p.Ser1178=) c.3516C>T (p.Ser1172=) c.3453C>T (p.Ser1151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332659G>C | CA474428974 | MYBPC3 | c.3534C>G (p.Ser1178=) c.3516C>G (p.Ser1172=) c.3453C>G (p.Ser1151=) | |
11 | g.47332659G= | CA1969334372 | MYBPC3 | c.3534C= (p.Ser1178=) c.3516C= (p.Ser1172=) c.3453C= (p.Ser1151=) | |
11 | g.47332659G>T | CA474428975 | MYBPC3 | c.3534C>A (p.Ser1178=) c.3516C>A (p.Ser1172=) c.3453C>A (p.Ser1151=) | |
11 | g.47332660G>A | CA380312692 | MYBPC3 | c.3533C>T (p.Ser1178Phe) c.3515C>T (p.Ser1172Phe) c.3452C>T (p.Ser1151Phe) | |
11 | g.47332660G>C | CA380312694 | MYBPC3 | c.3533C>G (p.Ser1178Cys) c.3515C>G (p.Ser1172Cys) c.3452C>G (p.Ser1151Cys) | |
11 | g.47332660G>T | CA380312696 | MYBPC3 | c.3533C>A (p.Ser1178Tyr) c.3515C>A (p.Ser1172Tyr) c.3452C>A (p.Ser1151Tyr) | |
11 | g.47332661A>C | CA380312704 | MYBPC3 | c.3532T>G (p.Ser1178Ala) c.3514T>G (p.Ser1172Ala) c.3451T>G (p.Ser1151Ala) | |
11 | g.47332661A>G | CA380312702 | MYBPC3 | c.3532T>C (p.Ser1178Pro) c.3514T>C (p.Ser1172Pro) c.3451T>C (p.Ser1151Pro) | ClinVar gnomAD v4 |
11 | g.47332661A>T | CA380312700 | MYBPC3 | c.3532T>A (p.Ser1178Thr) c.3514T>A (p.Ser1172Thr) c.3451T>A (p.Ser1151Thr) | |
11 | g.47332662G>A | CA054207 | MYBPC3 | c.3531C>T (p.Phe1177=) c.3513C>T (p.Phe1171=) c.3450C>T (p.Phe1150=) | |
11 | g.47332662G>C | CA380312706 | MYBPC3 | c.3531C>G (p.Phe1177Leu) c.3513C>G (p.Phe1171Leu) c.3450C>G (p.Phe1150Leu) | ClinVar dbSNP |
11 | g.47332662G= | CA1969334377 | MYBPC3 | c.3531C= (p.Phe1177=) c.3513C= (p.Phe1171=) c.3450C= (p.Phe1150=) | |
11 | g.47332662G>T | CA380312708 | MYBPC3 | c.3531C>A (p.Phe1177Leu) c.3513C>A (p.Phe1171Leu) c.3450C>A (p.Phe1150Leu) | |
11 | g.47332663A>C | CA380312711 | MYBPC3 | c.3530T>G (p.Phe1177Cys) c.3512T>G (p.Phe1171Cys) c.3449T>G (p.Phe1150Cys) | |
11 | g.47332663A>G | CA380312714 | MYBPC3 | c.3530T>C (p.Phe1177Ser) c.3512T>C (p.Phe1171Ser) c.3449T>C (p.Phe1150Ser) | |
11 | g.47332663A>T | CA380312715 | MYBPC3 | c.3530T>A (p.Phe1177Tyr) c.3512T>A (p.Phe1171Tyr) c.3449T>A (p.Phe1150Tyr) | |
11 | g.47332664A>C | CA380312719 | MYBPC3 | c.3529T>G (p.Phe1177Val) c.3511T>G (p.Phe1171Val) c.3448T>G (p.Phe1150Val) | |
11 | g.47332664A>G | CA380312720 | MYBPC3 | c.3529T>C (p.Phe1177Leu) c.3511T>C (p.Phe1171Leu) c.3448T>C (p.Phe1150Leu) | |
11 | g.47332664A>T | CA380312722 | MYBPC3 | c.3529T>A (p.Phe1177Ile) c.3511T>A (p.Phe1171Ile) c.3448T>A (p.Phe1150Ile) | |
11 | g.47332665G>A | CA474428976 | MYBPC3 | c.3528C>T (p.Asp1176=) c.3510C>T (p.Asp1170=) c.3447C>T (p.Asp1149=) | gnomAD v4 |
11 | g.47332665G>C | CA380312725 | MYBPC3 | c.3528C>G (p.Asp1176Glu) c.3510C>G (p.Asp1170Glu) c.3447C>G (p.Asp1149Glu) | dbSNP |
11 | g.47332665G= | CA1969334381 | MYBPC3 | c.3528C= (p.Asp1176=) c.3510C= (p.Asp1170=) c.3447C= (p.Asp1149=) | |
11 | g.47332665G>T | CA380312727 | MYBPC3 | c.3528C>A (p.Asp1176Glu) c.3510C>A (p.Asp1170Glu) c.3447C>A (p.Asp1149Glu) | |
11 | g.47332666T>A | CA380312728 | MYBPC3 | c.3527A>T (p.Asp1176Val) c.3509A>T (p.Asp1170Val) c.3446A>T (p.Asp1149Val) | gnomAD v4 |
11 | g.47332666T>C | CA380312731 | MYBPC3 | c.3527A>G (p.Asp1176Gly) c.3509A>G (p.Asp1170Gly) c.3446A>G (p.Asp1149Gly) | dbSNP |
11 | g.47332666T>G | CA380312732 | MYBPC3 | c.3527A>C (p.Asp1176Ala) c.3509A>C (p.Asp1170Ala) c.3446A>C (p.Asp1149Ala) | |
11 | g.47332666T= | CA1969334383 | MYBPC3 | c.3527A= (p.Asp1176=) c.3509A= (p.Asp1170=) c.3446A= (p.Asp1149=) | |
11 | g.47332667C>A | CA380312738 | MYBPC3 | c.3526G>T (p.Asp1176Tyr) c.3508G>T (p.Asp1170Tyr) c.3445G>T (p.Asp1149Tyr) | |
11 | g.47332667C>G | CA380312740 | MYBPC3 | c.3526G>C (p.Asp1176His) c.3508G>C (p.Asp1170His) c.3445G>C (p.Asp1149His) | |
11 | g.47332667C>T | CA380312735 | MYBPC3 | c.3526G>A (p.Asp1176Asn) c.3508G>A (p.Asp1170Asn) c.3445G>A (p.Asp1149Asn) | ClinVar gnomAD v4 |
11 | g.47332668C>A | CA474428977 | MYBPC3 | c.3525G>T (p.Leu1175=) c.3507G>T (p.Leu1169=) c.3444G>T (p.Leu1148=) | |
11 | g.47332668C>G | CA474428978 | MYBPC3 | c.3525G>C (p.Leu1175=) c.3507G>C (p.Leu1169=) c.3444G>C (p.Leu1148=) | |
11 | g.47332668C>T | CA474428979 | MYBPC3 | c.3525G>A (p.Leu1175=) c.3507G>A (p.Leu1169=) c.3444G>A (p.Leu1148=) | |
11 | g.47332669A>C | CA380312743 | MYBPC3 | c.3524T>G (p.Leu1175Arg) c.3506T>G (p.Leu1169Arg) c.3443T>G (p.Leu1148Arg) | |
11 | g.47332669A>G | CA380312745 | MYBPC3 | c.3524T>C (p.Leu1175Pro) c.3506T>C (p.Leu1169Pro) c.3443T>C (p.Leu1148Pro) | gnomAD v4 |
11 | g.47332669A>T | CA380312748 | MYBPC3 | c.3524T>A (p.Leu1175Gln) c.3506T>A (p.Leu1169Gln) c.3443T>A (p.Leu1148Gln) | |
11 | g.47332670G>A | CA474428980 | MYBPC3 | c.3523C>T (p.Leu1175=) c.3505C>T (p.Leu1169=) c.3442C>T (p.Leu1148=) | gnomAD v4 |
11 | g.47332670G>C | CA079425 | MYBPC3 | c.3523C>G (p.Leu1175Val) c.3505C>G (p.Leu1169Val) c.3442C>G (p.Leu1148Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332670G= | CA1969334385 | MYBPC3 | c.3523C= (p.Leu1175=) c.3505C= (p.Leu1169=) c.3442C= (p.Leu1148=) | |
11 | g.47332670G>T | CA380312752 | MYBPC3 | c.3523C>A (p.Leu1175Met) c.3505C>A (p.Leu1169Met) c.3442C>A (p.Leu1148Met) | |
11 | g.47332672dup | CA2697548542 | MYBPC3 | c.3523dup (p.Leu1175ProfsTer?) c.3505dup (p.Leu1169ProfsTer?) c.3442dup (p.Leu1148ProfsTer?) | ClinVar |
11 | g.47332671G>A | CA474428981 | MYBPC3 | c.3522C>T (p.Ala1174=) c.3504C>T (p.Ala1168=) c.3441C>T (p.Ala1147=) | ClinVar gnomAD v4 |
11 | g.47332671G>C | CA474428983 | MYBPC3 | c.3522C>G (p.Ala1174=) c.3504C>G (p.Ala1168=) c.3441C>G (p.Ala1147=) | |
11 | g.47332671G>T | CA474428982 | MYBPC3 | c.3522C>A (p.Ala1174=) c.3504C>A (p.Ala1168=) c.3441C>A (p.Ala1147=) | |
11 | g.47332672G>A | CA380312755 | MYBPC3 | c.3521C>T (p.Ala1174Val) c.3503C>T (p.Ala1168Val) c.3440C>T (p.Ala1147Val) | gnomAD v4 |
11 | g.47332672G>C | CA380312757 | MYBPC3 | c.3521C>G (p.Ala1174Gly) c.3503C>G (p.Ala1168Gly) c.3440C>G (p.Ala1147Gly) | |
11 | g.47332672G>T | CA380312759 | MYBPC3 | c.3521C>A (p.Ala1174Asp) c.3503C>A (p.Ala1168Asp) c.3440C>A (p.Ala1147Asp) | gnomAD v4 |
11 | g.47332672_47332675delinsGCCT | CA1969334387 | MYBPC3 | c.3518_3521delinsAGGC (p.Lys1173=) c.3500_3503delinsAGGC (p.Lys1167=) c.3437_3440delinsAGGC (p.Lys1146=) | |
11 | g.47332673C>A | CA380312762 | MYBPC3 | c.3520G>T (p.Ala1174Ser) c.3502G>T (p.Ala1168Ser) c.3439G>T (p.Ala1147Ser) | |
11 | g.47332673C>G | CA380312765 | MYBPC3 | c.3520G>C (p.Ala1174Pro) c.3502G>C (p.Ala1168Pro) c.3439G>C (p.Ala1147Pro) | |
11 | g.47332673C>T | CA380312767 | MYBPC3 | c.3520G>A (p.Ala1174Thr) c.3502G>A (p.Ala1168Thr) c.3439G>A (p.Ala1147Thr) | |
11 | g.47332673_47332675del | CA079423 | MYBPC3 | c.3518_3520del (p.Lys1173_Ala1174delinsThr) c.3500_3502del (p.Lys1167_Ala1168delinsThr) c.3437_3439del (p.Lys1146_Ala1147delinsThr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332673_47332676delinsTGGCTC | CA2695213907 | MYBPC3 | c.3517_3520delinsGAGCCA (p.Lys1173GlufsTer17) c.3499_3502delinsGAGCCA (p.Lys1167GlufsTer17) c.3436_3439delinsGAGCCA (p.Lys1146GlufsTer17) | |
11 | g.47332674C>A | CA380312771 | MYBPC3 | c.3519G>T (p.Lys1173Asn) c.3501G>T (p.Lys1167Asn) c.3438G>T (p.Lys1146Asn) | ClinVar dbSNP |
11 | g.47332674C= | CA1969334393 | MYBPC3 | c.3519G= (p.Lys1173=) c.3501G= (p.Lys1167=) c.3438G= (p.Lys1146=) | |
11 | g.47332674C>G | CA380312773 | MYBPC3 | c.3519G>C (p.Lys1173Asn) c.3501G>C (p.Lys1167Asn) c.3438G>C (p.Lys1146Asn) | |
11 | g.47332674C>T | CA474428984 | MYBPC3 | c.3519G>A (p.Lys1173=) c.3501G>A (p.Lys1167=) c.3438G>A (p.Lys1146=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47332677_47333963del | CA2573051316 | MYBPC3 | c.2956_3519del c.2938_3501del c.2875_3438del | |
11 | g.47332675T>A | CA380312780 | MYBPC3 | c.3518A>T (p.Lys1173Met) c.3500A>T (p.Lys1167Met) c.3437A>T (p.Lys1146Met) | |
11 | g.47332675T>C | CA380312778 | MYBPC3 | c.3518A>G (p.Lys1173Arg) c.3500A>G (p.Lys1167Arg) c.3437A>G (p.Lys1146Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332675T>G | CA380312777 | MYBPC3 | c.3518A>C (p.Lys1173Thr) c.3500A>C (p.Lys1167Thr) c.3437A>C (p.Lys1146Thr) | |
11 | g.47332675T= | CA1969334402 | MYBPC3 | c.3518A= (p.Lys1173=) c.3500A= (p.Lys1167=) c.3437A= (p.Lys1146=) | |
11 | g.47332676_47332678del | CA054165 | MYBPC3 | c.3516_3518del (p.Tyr1172Ter) c.3498_3500del (p.Tyr1166Ter) c.3435_3437del (p.Tyr1145Ter) | |
11 | g.47332675_47335092del | CA2573051317 | MYBPC3 | c.2855_3518del c.2837_3500del c.2774_3437del | |
11 | g.47332676T>A | CA380312783 | MYBPC3 | c.3517A>T (p.Lys1173Ter) c.3499A>T (p.Lys1167Ter) c.3436A>T (p.Lys1146Ter) | |
11 | g.47332676T>C | CA221682086 | MYBPC3 | c.3517A>G (p.Lys1173Glu) c.3499A>G (p.Lys1167Glu) c.3436A>G (p.Lys1146Glu) | dbSNP |
11 | g.47332676T>G | CA380312786 | MYBPC3 | c.3517A>C (p.Lys1173Gln) c.3499A>C (p.Lys1167Gln) c.3436A>C (p.Lys1146Gln) | |
11 | g.47332676T= | CA1969334410 | MYBPC3 | c.3517A= (p.Lys1173=) c.3499A= (p.Lys1167=) c.3436A= (p.Lys1146=) | |
11 | g.47332676_47332679dup | CA16619332 | MYBPC3 | c.3514_3517dup (p.Lys1173IlefsTer2) c.3496_3499dup (p.Lys1167IlefsTer2) c.3433_3436dup (p.Lys1146IlefsTer2) | ClinVar dbSNP |
11 | g.47332677del | CA2695213908 | MYBPC3 | c.3516del (p.Tyr1172Ter) c.3498del (p.Tyr1166Ter) c.3435del (p.Tyr1145Ter) | |
11 | g.47332677A= | CA1969334413 | MYBPC3 | c.3516T= (p.Tyr1172=) c.3498T= (p.Tyr1166=) c.3435T= (p.Tyr1145=) | |
11 | g.47332677A>C | CA380312788 | MYBPC3 | c.3516T>G (p.Tyr1172Ter) c.3498T>G (p.Tyr1166Ter) c.3435T>G (p.Tyr1145Ter) | |
11 | g.47332677A>G | CA474428985 | MYBPC3 | c.3516T>C (p.Tyr1172=) c.3498T>C (p.Tyr1166=) c.3435T>C (p.Tyr1145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332677A>T | CA380312790 | MYBPC3 | c.3516T>A (p.Tyr1172Ter) c.3498T>A (p.Tyr1166Ter) c.3435T>A (p.Tyr1145Ter) | |
11 | g.47332678T>A | CA380312794 | MYBPC3 | c.3515A>T (p.Tyr1172Phe) c.3497A>T (p.Tyr1166Phe) c.3434A>T (p.Tyr1145Phe) | |
11 | g.47332678T>C | CA380312796 | MYBPC3 | c.3515A>G (p.Tyr1172Cys) c.3497A>G (p.Tyr1166Cys) c.3434A>G (p.Tyr1145Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332678T>G | CA380312798 | MYBPC3 | c.3515A>C (p.Tyr1172Ser) c.3497A>C (p.Tyr1166Ser) c.3434A>C (p.Tyr1145Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332678T= | CA1969334417 | MYBPC3 | c.3515A= (p.Tyr1172=) c.3497A= (p.Tyr1166=) c.3434A= (p.Tyr1145=) | |
11 | g.47332679A= | CA1969334421 | MYBPC3 | c.3514T= (p.Tyr1172=) c.3496T= (p.Tyr1166=) c.3433T= (p.Tyr1145=) | |
11 | g.47332679A>C | CA380312801 | MYBPC3 | c.3514T>G (p.Tyr1172Asp) c.3496T>G (p.Tyr1166Asp) c.3433T>G (p.Tyr1145Asp) | |
11 | g.47332679A>G | CA380312803 | MYBPC3 | c.3514T>C (p.Tyr1172His) c.3496T>C (p.Tyr1166His) c.3433T>C (p.Tyr1145His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332679A>T | CA380312805 | MYBPC3 | c.3514T>A (p.Tyr1172Asn) c.3496T>A (p.Tyr1166Asn) c.3433T>A (p.Tyr1145Asn) | gnomAD v4 |
11 | g.47332680G>A | CA474428986 | MYBPC3 | c.3513C>T (p.Asn1171=) c.3495C>T (p.Asn1165=) c.3432C>T (p.Asn1144=) | |
11 | g.47332680G>C | CA380312808 | MYBPC3 | c.3513C>G (p.Asn1171Lys) c.3495C>G (p.Asn1165Lys) c.3432C>G (p.Asn1144Lys) | |
11 | g.47332680G= | CA1969334424 | MYBPC3 | c.3513C= (p.Asn1171=) c.3495C= (p.Asn1165=) c.3432C= (p.Asn1144=) | |
11 | g.47332680G>T | CA380312810 | MYBPC3 | c.3513C>A (p.Asn1171Lys) c.3495C>A (p.Asn1165Lys) c.3432C>A (p.Asn1144Lys) | dbSNP |
11 | g.47332680_47332681delinsGT | CA1969334426 | MYBPC3 | c.3512_3513delinsAC (p.Asn1171=) c.3494_3495delinsAC (p.Asn1165=) c.3431_3432delinsAC (p.Asn1144=) | |
11 | g.47332681T>A | CA380312817 | MYBPC3 | c.3512A>T (p.Asn1171Ile) c.3494A>T (p.Asn1165Ile) c.3431A>T (p.Asn1144Ile) | |
11 | g.47332681T>C | CA079421 | MYBPC3 | c.3512A>G (p.Asn1171Ser) c.3494A>G (p.Asn1165Ser) c.3431A>G (p.Asn1144Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332681T>G | CA380312819 | MYBPC3 | c.3512A>C (p.Asn1171Thr) c.3494A>C (p.Asn1165Thr) c.3431A>C (p.Asn1144Thr) | |
11 | g.47332681T= | CA1969334432 | MYBPC3 | c.3512A= (p.Asn1171=) c.3494A= (p.Asn1165=) c.3431A= (p.Asn1144=) | |
11 | g.47332682del | CA10576881 | MYBPC3 | c.3512del (p.Asn1171ThrfsTer18) c.3494del (p.Asn1165ThrfsTer18) c.3431del (p.Asn1144ThrfsTer18) | ClinVar dbSNP |
11 | g.47332682T>A | CA380312825 | MYBPC3 | c.3511A>T (p.Asn1171Tyr) c.3493A>T (p.Asn1165Tyr) c.3430A>T (p.Asn1144Tyr) | |
11 | g.47332682T>C | CA380312822 | MYBPC3 | c.3511A>G (p.Asn1171Asp) c.3493A>G (p.Asn1165Asp) c.3430A>G (p.Asn1144Asp) | |
11 | g.47332682T>G | CA380312827 | MYBPC3 | c.3511A>C (p.Asn1171His) c.3493A>C (p.Asn1165His) c.3430A>C (p.Asn1144His) | |
11 | g.47332683G>A | CA221682095 | MYBPC3 | c.3510C>T (p.Pro1170=) c.3492C>T (p.Pro1164=) c.3429C>T (p.Pro1143=) | dbSNP |
11 | g.47332683G>C | CA474428987 | MYBPC3 | c.3510C>G (p.Pro1170=) c.3492C>G (p.Pro1164=) c.3429C>G (p.Pro1143=) | |
11 | g.47332683G= | CA1969334438 | MYBPC3 | c.3510C= (p.Pro1170=) c.3492C= (p.Pro1164=) c.3429C= (p.Pro1143=) | |
11 | g.47332683G>T | CA474428988 | MYBPC3 | c.3510C>A (p.Pro1170=) c.3492C>A (p.Pro1164=) c.3429C>A (p.Pro1143=) | |
11 | g.47332685dup | CA2695213909 | MYBPC3 | c.3510dup (p.Asn1171GlnfsTer3) c.3492dup (p.Asn1165GlnfsTer3) c.3429dup (p.Asn1144GlnfsTer3) | |
11 | g.47332684G>A | CA380312838 | MYBPC3 | c.3509C>T (p.Pro1170Leu) c.3491C>T (p.Pro1164Leu) c.3428C>T (p.Pro1143Leu) | |
11 | g.47332684G>C | CA380312832 | MYBPC3 | c.3509C>G (p.Pro1170Arg) c.3491C>G (p.Pro1164Arg) c.3428C>G (p.Pro1143Arg) | |
11 | g.47332684G>T | CA380312840 | MYBPC3 | c.3509C>A (p.Pro1170His) c.3491C>A (p.Pro1164His) c.3428C>A (p.Pro1143His) | |
11 | g.47332685G>A | CA380312843 | MYBPC3 | c.3508C>T (p.Pro1170Ser) c.3490C>T (p.Pro1164Ser) c.3427C>T (p.Pro1143Ser) | |
11 | g.47332685G>C | CA380312848 | MYBPC3 | c.3508C>G (p.Pro1170Ala) c.3490C>G (p.Pro1164Ala) c.3427C>G (p.Pro1143Ala) | |
11 | g.47332685G>T | CA380312845 | MYBPC3 | c.3508C>A (p.Pro1170Thr) c.3490C>A (p.Pro1164Thr) c.3427C>A (p.Pro1143Thr) | |
11 | g.47332686T>A | CA474428989 | MYBPC3 | c.3507A>T (p.Pro1169=) c.3489A>T (p.Pro1163=) c.3426A>T (p.Pro1142=) | |
11 | g.47332686T>C | CA474428990 | MYBPC3 | c.3507A>G (p.Pro1169=) c.3489A>G (p.Pro1163=) c.3426A>G (p.Pro1142=) | |
11 | g.47332686T>G | CA474428991 | MYBPC3 | c.3507A>C (p.Pro1169=) c.3489A>C (p.Pro1163=) c.3426A>C (p.Pro1142=) | |
11 | g.47332687G>A | CA380312851 | MYBPC3 | c.3506C>T (p.Pro1169Leu) c.3488C>T (p.Pro1163Leu) c.3425C>T (p.Pro1142Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47332687G>C | CA380312855 | MYBPC3 | c.3506C>G (p.Pro1169Arg) c.3488C>G (p.Pro1163Arg) c.3425C>G (p.Pro1142Arg) | |
11 | g.47332687G= | CA1969334441 | MYBPC3 | c.3506C= (p.Pro1169=) c.3488C= (p.Pro1163=) c.3425C= (p.Pro1142=) | |
11 | g.47332687G>T | CA380312853 | MYBPC3 | c.3506C>A (p.Pro1169Gln) c.3488C>A (p.Pro1163Gln) c.3425C>A (p.Pro1142Gln) | |
11 | g.47332688G>A | CA380312859 | MYBPC3 | c.3505C>T (p.Pro1169Ser) c.3487C>T (p.Pro1163Ser) c.3424C>T (p.Pro1142Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332688G>C | CA380312863 | MYBPC3 | c.3505C>G (p.Pro1169Ala) c.3487C>G (p.Pro1163Ala) c.3424C>G (p.Pro1142Ala) | |
11 | g.47332688G= | CA1969334443 | MYBPC3 | c.3505C= (p.Pro1169=) c.3487C= (p.Pro1163=) c.3424C= (p.Pro1142=) | |
11 | g.47332688G>T | CA380312861 | MYBPC3 | c.3505C>A (p.Pro1169Thr) c.3487C>A (p.Pro1163Thr) c.3424C>A (p.Pro1142Thr) | |
11 | g.47332689C>A | CA380312865 | MYBPC3 | c.3504G>T (p.Glu1168Asp) c.3486G>T (p.Glu1162Asp) c.3423G>T (p.Glu1141Asp) | gnomAD v4 |
11 | g.47332689C= | CA1969334445 | MYBPC3 | c.3504G= (p.Glu1168=) c.3486G= (p.Glu1162=) c.3423G= (p.Glu1141=) | |
11 | g.47332689C>G | CA380312867 | MYBPC3 | c.3504G>C (p.Glu1168Asp) c.3486G>C (p.Glu1162Asp) c.3423G>C (p.Glu1141Asp) | |
11 | g.47332689C>T | CA474428992 | MYBPC3 | c.3504G>A (p.Glu1168=) c.3486G>A (p.Glu1162=) c.3423G>A (p.Glu1141=) | dbSNP |
11 | g.47332690T>A | CA380312870 | MYBPC3 | c.3503A>T (p.Glu1168Val) c.3485A>T (p.Glu1162Val) c.3422A>T (p.Glu1141Val) | |
11 | g.47332690T>C | CA380312873 | MYBPC3 | c.3503A>G (p.Glu1168Gly) c.3485A>G (p.Glu1162Gly) c.3422A>G (p.Glu1141Gly) | |
11 | g.47332690T>G | CA380312875 | MYBPC3 | c.3503A>C (p.Glu1168Ala) c.3485A>C (p.Glu1162Ala) c.3422A>C (p.Glu1141Ala) | |
11 | g.47332691C>A | CA380312878 | MYBPC3 | c.3502G>T (p.Glu1168Ter) c.3484G>T (p.Glu1162Ter) c.3421G>T (p.Glu1141Ter) | |
11 | g.47332691C= | CA1969334447 | MYBPC3 | c.3502G= (p.Glu1168=) c.3484G= (p.Glu1162=) c.3421G= (p.Glu1141=) | |
11 | g.47332691C>G | CA380312879 | MYBPC3 | c.3502G>C (p.Glu1168Gln) c.3484G>C (p.Glu1162Gln) c.3421G>C (p.Glu1141Gln) | |
11 | g.47332691C>T | CA380312881 | MYBPC3 | c.3502G>A (p.Glu1168Lys) c.3484G>A (p.Glu1162Lys) c.3421G>A (p.Glu1141Lys) | dbSNP |
11 | g.47332692A>C | CA380312884 | MYBPC3 | c.3501T>G (p.Tyr1167Ter) c.3483T>G (p.Tyr1161Ter) c.3420T>G (p.Tyr1140Ter) | gnomAD v4 |
11 | g.47332692A>G | CA474428993 | MYBPC3 | c.3501T>C (p.Tyr1167=) c.3483T>C (p.Tyr1161=) c.3420T>C (p.Tyr1140=) | |
11 | g.47332692A>T | CA380312885 | MYBPC3 | c.3501T>A (p.Tyr1167Ter) c.3483T>A (p.Tyr1161Ter) c.3420T>A (p.Tyr1140Ter) | |
11 | g.47332693T>A | CA380312892 | MYBPC3 | c.3500A>T (p.Tyr1167Phe) c.3482A>T (p.Tyr1161Phe) c.3419A>T (p.Tyr1140Phe) | |
11 | g.47332693T>C | CA380312890 | MYBPC3 | c.3500A>G (p.Tyr1167Cys) c.3482A>G (p.Tyr1161Cys) c.3419A>G (p.Tyr1140Cys) | |
11 | g.47332693T>G | CA380312888 | MYBPC3 | c.3500A>C (p.Tyr1167Ser) c.3482A>C (p.Tyr1161Ser) c.3419A>C (p.Tyr1140Ser) | |
11 | g.47332694A>C | CA380312895 | MYBPC3 | c.3499T>G (p.Tyr1167Asp) c.3481T>G (p.Tyr1161Asp) c.3418T>G (p.Tyr1140Asp) | |
11 | g.47332694A>G | CA380312897 | MYBPC3 | c.3499T>C (p.Tyr1167His) c.3481T>C (p.Tyr1161His) c.3418T>C (p.Tyr1140His) | ClinVar gnomAD v4 |
11 | g.47332694A>T | CA380312899 | MYBPC3 | c.3499T>A (p.Tyr1167Asn) c.3481T>A (p.Tyr1161Asn) c.3418T>A (p.Tyr1140Asn) | |
11 | g.47332695G>A | CA474428994 | MYBPC3 | c.3498C>T (p.Thr1166=) c.3480C>T (p.Thr1160=) c.3417C>T (p.Thr1139=) | |
11 | g.47332695G>C | CA079420 | MYBPC3 | c.3498C>G (p.Thr1166=) c.3480C>G (p.Thr1160=) c.3417C>G (p.Thr1139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332695G= | CA1969334450 | MYBPC3 | c.3498C= (p.Thr1166=) c.3480C= (p.Thr1160=) c.3417C= (p.Thr1139=) | |
11 | g.47332695G>T | CA474428995 | MYBPC3 | c.3498C>A (p.Thr1166=) c.3480C>A (p.Thr1160=) c.3417C>A (p.Thr1139=) | dbSNP gnomAD v4 |
11 | g.47332696G>A | CA380312905 | MYBPC3 | c.3497C>T (p.Thr1166Ile) c.3479C>T (p.Thr1160Ile) c.3416C>T (p.Thr1139Ile) | dbSNP |
11 | g.47332696G>C | CA380312906 | MYBPC3 | c.3497C>G (p.Thr1166Ser) c.3479C>G (p.Thr1160Ser) c.3416C>G (p.Thr1139Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332696G= | CA1969334454 | MYBPC3 | c.3497C= (p.Thr1166=) c.3479C= (p.Thr1160=) c.3416C= (p.Thr1139=) | |
11 | g.47332696G>T | CA380312909 | MYBPC3 | c.3497C>A (p.Thr1166Asn) c.3479C>A (p.Thr1160Asn) c.3416C>A (p.Thr1139Asn) | |
11 | g.47332697T>A | CA380312912 | MYBPC3 | c.3496A>T (p.Thr1166Ser) c.3478A>T (p.Thr1160Ser) c.3415A>T (p.Thr1139Ser) | |
11 | g.47332697T>C | CA380312914 | MYBPC3 | c.3496A>G (p.Thr1166Ala) c.3478A>G (p.Thr1160Ala) c.3415A>G (p.Thr1139Ala) | |
11 | g.47332697T>G | CA380312915 | MYBPC3 | c.3496A>C (p.Thr1166Pro) c.3478A>C (p.Thr1160Pro) c.3415A>C (p.Thr1139Pro) | dbSNP |
11 | g.47332697T= | CA1969334455 | MYBPC3 | c.3496A= (p.Thr1166=) c.3478A= (p.Thr1160=) c.3415A= (p.Thr1139=) | |
11 | g.47332698G>A | CA474428996 | MYBPC3 | c.3495C>T (p.Ile1165=) c.3477C>T (p.Ile1159=) c.3414C>T (p.Ile1138=) | |
11 | g.47332698G>C | CA054146 | MYBPC3 | c.3495C>G (p.Ile1165Met) c.3477C>G (p.Ile1159Met) c.3414C>G (p.Ile1138Met) | |
11 | g.47332698G>T | CA474428997 | MYBPC3 | c.3495C>A (p.Ile1165=) c.3477C>A (p.Ile1159=) c.3414C>A (p.Ile1138=) | |
11 | g.47332699A>C | CA380312925 | MYBPC3 | c.3494T>G (p.Ile1165Ser) c.3476T>G (p.Ile1159Ser) c.3413T>G (p.Ile1138Ser) | |
11 | g.47332699A>G | CA380312922 | MYBPC3 | c.3494T>C (p.Ile1165Thr) c.3476T>C (p.Ile1159Thr) c.3413T>C (p.Ile1138Thr) | |
11 | g.47332699A>T | CA380312920 | MYBPC3 | c.3494T>A (p.Ile1165Asn) c.3476T>A (p.Ile1159Asn) c.3413T>A (p.Ile1138Asn) | |
11 | g.47332700T>A | CA380312929 | MYBPC3 | c.3493A>T (p.Ile1165Phe) c.3475A>T (p.Ile1159Phe) c.3412A>T (p.Ile1138Phe) | |
11 | g.47332700T>C | CA380312931 | MYBPC3 | c.3493A>G (p.Ile1165Val) c.3475A>G (p.Ile1159Val) c.3412A>G (p.Ile1138Val) | |
11 | g.47332700T>G | CA380312933 | MYBPC3 | c.3493A>C (p.Ile1165Leu) c.3475A>C (p.Ile1159Leu) c.3412A>C (p.Ile1138Leu) | |
11 | g.47332701del | CA2739291460 | MYBPC3 | c.3492del (p.Ile1165SerfsTer24) c.3474del (p.Ile1159SerfsTer24) c.3411del (p.Ile1138SerfsTer24) | |
11 | g.47332701G>A | CA079418 | MYBPC3 | c.3492C>T (p.Gly1164=) c.3474C>T (p.Gly1158=) c.3411C>T (p.Gly1137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332701G>C | CA474428999 | MYBPC3 | c.3492C>G (p.Gly1164=) c.3474C>G (p.Gly1158=) c.3411C>G (p.Gly1137=) | |
11 | g.47332701G= | CA1969334458 | MYBPC3 | c.3492C= (p.Gly1164=) c.3474C= (p.Gly1158=) c.3411C= (p.Gly1137=) | |
11 | g.47332701G>T | CA474428998 | MYBPC3 | c.3492C>A (p.Gly1164=) c.3474C>A (p.Gly1158=) c.3411C>A (p.Gly1137=) | |
11 | g.47332702C>A | CA380312937 | MYBPC3 | c.3491G>T (p.Gly1164Val) c.3473G>T (p.Gly1158Val) c.3410G>T (p.Gly1137Val) | |
11 | g.47332702C= | CA1969334460 | MYBPC3 | c.3491G= (p.Gly1164=) c.3473G= (p.Gly1158=) c.3410G= (p.Gly1137=) | |
11 | g.47332702C>G | CA380312939 | MYBPC3 | c.3491G>C (p.Gly1164Ala) c.3473G>C (p.Gly1158Ala) c.3410G>C (p.Gly1137Ala) | |
11 | g.47332702C>T | CA380312941 | MYBPC3 | c.3491G>A (p.Gly1164Asp) c.3473G>A (p.Gly1158Asp) c.3410G>A (p.Gly1137Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332706_47332816del | CA2791331636 | MYBPC3 | c.3490+2_3491del c.3472+2_3473del c.3409+2_3410del | |
11 | g.47332703C>A | CA380312944 | MYBPC3 | c.3491-1G>T (n.3491-1G>T) c.3473-1G>T (n.3473-1G>T) c.3410-1G>T (n.3410-1G>T) | |
11 | g.47332703C>G | CA380312947 | MYBPC3 | c.3491-1G>C (n.3491-1G>C) c.3473-1G>C (n.3473-1G>C) c.3410-1G>C (n.3410-1G>C) | |
11 | g.47332703C>T | CA380312948 | MYBPC3 | c.3491-1G>A (n.3491-1G>A) c.3473-1G>A (n.3473-1G>A) c.3410-1G>A (n.3410-1G>A) | ClinVar |
11 | g.47332704T>A | CA014265 | MYBPC3 | c.3491-2A>T (n.3491-2A>T) c.3473-2A>T (n.3473-2A>T) c.3410-2A>T (n.3410-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332704T>C | CA014256 | MYBPC3 | c.3491-2A>G (n.3491-2A>G) c.3473-2A>G (n.3473-2A>G) c.3410-2A>G (n.3410-2A>G) | dbSNP |
11 | g.47332704T>G | CA380312951 | MYBPC3 | c.3491-2A>C (n.3491-2A>C) c.3473-2A>C (n.3473-2A>C) c.3410-2A>C (n.3410-2A>C) | ClinVar dbSNP |
11 | g.47332704T= | CA1969334462 | MYBPC3 | c.3491-2A= (n.3491-2A=) c.3473-2A= (n.3473-2A=) c.3410-2A= (n.3410-2A=) | |
11 | g.47332705G>A | CA599374160 | MYBPC3 | c.3491-3C>T (n.3491-3C>T) c.3473-3C>T (n.3473-3C>T) c.3410-3C>T (n.3410-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332705G>C | CA014283 | MYBPC3 | c.3491-3C>G (n.3491-3C>G) c.3473-3C>G (n.3473-3C>G) c.3410-3C>G (n.3410-3C>G) | ClinVar dbSNP gnomAD v4 |
11 | g.47332705G= | CA1969334465 | MYBPC3 | c.3491-3C= (n.3491-3C=) c.3473-3C= (n.3473-3C=) c.3410-3C= (n.3410-3C=) | |
11 | g.47332705G>T | CA014273 | MYBPC3 | c.3491-3C>A (n.3491-3C>A) c.3473-3C>A (n.3473-3C>A) c.3410-3C>A (n.3410-3C>A) | ClinVar dbSNP |
11 | g.47332707T>A | CA221682112 | MYBPC3 | c.3491-5A>T (n.3491-5A>T) c.3473-5A>T (n.3473-5A>T) c.3410-5A>T (n.3410-5A>T) | dbSNP |
11 | g.47332707T= | CA1969334467 | MYBPC3 | c.3491-5A= (n.3491-5A=) c.3473-5A= (n.3473-5A=) c.3410-5A= (n.3410-5A=) | |
11 | g.47332710_47332716del | CA2695213910 | MYBPC3 | c.3491-12_3491-6del (n.3491-12_3491-6del) c.3473-12_3473-6del (n.3473-12_3473-6del) c.3410-12_3410-6del (n.3410-12_3410-6del) | |
11 | g.47332709G= | CA1969334469 | MYBPC3 | c.3491-7C= (n.3491-7C=) c.3473-7C= (n.3473-7C=) c.3410-7C= (n.3410-7C=) | |
11 | g.47332709G>T | CA1969334470 | MYBPC3 | c.3491-7C>A (n.3491-7C>A) c.3473-7C>A (n.3473-7C>A) c.3410-7C>A (n.3410-7C>A) | dbSNP |
11 | g.47332711G>A | CA2573146360 | MYBPC3 | c.3491-9C>T (n.3491-9C>T) c.3473-9C>T (n.3473-9C>T) c.3410-9C>T (n.3410-9C>T) | ClinVar dbSNP |
11 | g.47332712A>G | CA2613392513 | MYBPC3 | c.3491-10T>C (n.3491-10T>C) c.3473-10T>C (n.3473-10T>C) c.3410-10T>C (n.3410-10T>C) | gnomAD v4 |
11 | g.47332713C>A | CA2613392514 | MYBPC3 | c.3491-11G>T (n.3491-11G>T) c.3473-11G>T (n.3473-11G>T) c.3410-11G>T (n.3410-11G>T) | gnomAD v4 |
11 | g.47332713C>T | CA2613392515 | MYBPC3 | c.3491-11G>A (n.3491-11G>A) c.3473-11G>A (n.3473-11G>A) c.3410-11G>A (n.3410-11G>A) | gnomAD v4 |
11 | g.47332716G= | CA1969334471 | MYBPC3 | c.3491-14C= (n.3491-14C=) c.3473-14C= (n.3473-14C=) c.3410-14C= (n.3410-14C=) | |
11 | g.47332716G>T | CA599374161 | MYBPC3 | c.3491-14C>A (n.3491-14C>A) c.3473-14C>A (n.3473-14C>A) c.3410-14C>A (n.3410-14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332717A>C | CA2613392516 | MYBPC3 | c.3491-15T>G (n.3491-15T>G) c.3473-15T>G (n.3473-15T>G) c.3410-15T>G (n.3410-15T>G) | gnomAD v4 |
11 | g.47332718C= | CA1969334473 | MYBPC3 | c.3491-16G= (n.3491-16G=) c.3473-16G= (n.3473-16G=) c.3410-16G= (n.3410-16G=) | |
11 | g.47332718C>T | CA079410 | MYBPC3 | c.3491-16G>A (n.3491-16G>A) c.3473-16G>A (n.3473-16G>A) c.3410-16G>A (n.3410-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332719T>G | CA2574815725 | MYBPC3 | c.3491-17A>C (n.3491-17A>C) c.3473-17A>C (n.3473-17A>C) c.3410-17A>C (n.3410-17A>C) | gnomAD v4 |
11 | g.47332721G>C | CA2613392517 | MYBPC3 | c.3491-19C>G (n.3491-19C>G) c.3473-19C>G (n.3473-19C>G) c.3410-19C>G (n.3410-19C>G) | gnomAD v4 |
11 | g.47332722G>A | CA2613392518 | MYBPC3 | c.3491-20C>T (n.3491-20C>T) c.3473-20C>T (n.3473-20C>T) c.3410-20C>T (n.3410-20C>T) | gnomAD v4 |
11 | g.47332722G>T | CA2574815726 | MYBPC3 | c.3491-20C>A (n.3491-20C>A) c.3473-20C>A (n.3473-20C>A) c.3410-20C>A (n.3410-20C>A) | |
11 | g.47332723T>A | CA2574815727 | MYBPC3 | c.3491-21A>T (n.3491-21A>T) c.3473-21A>T (n.3473-21A>T) c.3410-21A>T (n.3410-21A>T) | |
11 | g.47332723T>C | CA2574815728 | MYBPC3 | c.3491-21A>G (n.3491-21A>G) c.3473-21A>G (n.3473-21A>G) c.3410-21A>G (n.3410-21A>G) | |
11 | g.47332724A>G | CA654179119 | MYBPC3 | c.3491-22T>C (n.3491-22T>C) c.3473-22T>C (n.3473-22T>C) c.3410-22T>C (n.3410-22T>C) | COSMIC |
11 | g.47332726C>A | CA677014005 | MYBPC3 | c.3491-24G>T (n.3491-24G>T) c.3473-24G>T (n.3473-24G>T) c.3410-24G>T (n.3410-24G>T) | dbSNP gnomAD v4 |
11 | g.47332726C= | CA1969334474 | MYBPC3 | c.3491-24G= (n.3491-24G=) c.3473-24G= (n.3473-24G=) c.3410-24G= (n.3410-24G=) | |
11 | g.47332726C>T | CA599374162 | MYBPC3 | c.3491-24G>A (n.3491-24G>A) c.3473-24G>A (n.3473-24G>A) c.3410-24G>A (n.3410-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332727G>A | CA079412 | MYBPC3 | c.3491-25C>T (n.3491-25C>T) c.3473-25C>T (n.3473-25C>T) c.3410-25C>T (n.3410-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332727G= | CA1969334476 | MYBPC3 | c.3491-25C= (n.3491-25C=) c.3473-25C= (n.3473-25C=) c.3410-25C= (n.3410-25C=) | |
11 | g.47332727G>T | CA2613392520 | MYBPC3 | c.3491-25C>A (n.3491-25C>A) c.3473-25C>A (n.3473-25C>A) c.3410-25C>A (n.3410-25C>A) | gnomAD v4 |
11 | g.47332730_47332731del | CA2613392519 | MYBPC3 | c.3491-26_3491-25del (n.3491-26_3491-25del) c.3473-26_3473-25del (n.3473-26_3473-25del) c.3410-26_3410-25del (n.3410-26_3410-25del) | gnomAD v4 |
11 | g.47332729G>A | CA1969334478 | MYBPC3 | c.3491-27C>T (n.3491-27C>T) c.3473-27C>T (n.3473-27C>T) c.3410-27C>T (n.3410-27C>T) | dbSNP |
11 | g.47332729G= | CA1969334477 | MYBPC3 | c.3491-27C= (n.3491-27C=) c.3473-27C= (n.3473-27C=) c.3410-27C= (n.3410-27C=) | |
11 | g.47332731G>A | CA1969334481 | MYBPC3 | c.3491-29C>T (n.3491-29C>T) c.3473-29C>T (n.3473-29C>T) c.3410-29C>T (n.3410-29C>T) | dbSNP gnomAD v4 |
11 | g.47332731G= | CA1969334479 | MYBPC3 | c.3491-29C= (n.3491-29C=) c.3473-29C= (n.3473-29C=) c.3410-29C= (n.3410-29C=) | |
11 | g.47332732G>C | CA2613392521 | MYBPC3 | c.3491-30C>G (n.3491-30C>G) c.3473-30C>G (n.3473-30C>G) c.3410-30C>G (n.3410-30C>G) | gnomAD v4 |
11 | g.47332733G>T | CA2613392522 | MYBPC3 | c.3491-31C>A (n.3491-31C>A) c.3473-31C>A (n.3473-31C>A) c.3410-31C>A (n.3410-31C>A) | gnomAD v4 |
11 | g.47332734C>A | CA2613392523 | MYBPC3 | c.3491-32G>T (n.3491-32G>T) c.3473-32G>T (n.3473-32G>T) c.3410-32G>T (n.3410-32G>T) | gnomAD v4 |
11 | g.47332734C= | CA1969334482 | MYBPC3 | c.3491-32G= (n.3491-32G=) c.3473-32G= (n.3473-32G=) c.3410-32G= (n.3410-32G=) | |
11 | g.47332734C>T | CA937665600 | MYBPC3 | c.3491-32G>A (n.3491-32G>A) c.3473-32G>A (n.3473-32G>A) c.3410-32G>A (n.3410-32G>A) | dbSNP gnomAD v4 |
11 | g.47332735C>G | CA2613392524 | MYBPC3 | c.3491-33G>C (n.3491-33G>C) c.3473-33G>C (n.3473-33G>C) c.3410-33G>C (n.3410-33G>C) | gnomAD v4 |
11 | g.47332739C>A | CA221682123 | MYBPC3 | c.3491-37G>T (n.3491-37G>T) c.3473-37G>T (n.3473-37G>T) c.3410-37G>T (n.3410-37G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332739C= | CA1969334483 | MYBPC3 | c.3491-37G= (n.3491-37G=) c.3473-37G= (n.3473-37G=) c.3410-37G= (n.3410-37G=) | |
11 | g.47332739C>G | CA599374163 | MYBPC3 | c.3491-37G>C (n.3491-37G>C) c.3473-37G>C (n.3473-37G>C) c.3410-37G>C (n.3410-37G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332739C>T | CA221682126 | MYBPC3 | c.3491-37G>A (n.3491-37G>A) c.3473-37G>A (n.3473-37G>A) c.3410-37G>A (n.3410-37G>A) | dbSNP gnomAD v4 |
11 | g.47332743G>A | CA2613392525 | MYBPC3 | c.3491-41C>T (n.3491-41C>T) c.3473-41C>T (n.3473-41C>T) c.3410-41C>T (n.3410-41C>T) | gnomAD v4 |
11 | g.47332744C>A | CA2613392526 | MYBPC3 | c.3491-42G>T (n.3491-42G>T) c.3473-42G>T (n.3473-42G>T) c.3410-42G>T (n.3410-42G>T) | gnomAD v4 |
11 | g.47332746_47332747delinsAG | CA1969334485 | MYBPC3 | c.3491-45_3491-44delinsCT (n.3491-45_3491-44delinsCT) c.3473-45_3473-44delinsCT (n.3473-45_3473-44delinsCT) c.3410-45_3410-44delinsCT (n.3410-45_3410-44delinsCT) | |
11 | g.47332747_47332748del | CA2613392527 | MYBPC3 | c.3491-46_3491-45del (n.3491-46_3491-45del) c.3473-46_3473-45del (n.3473-46_3473-45del) c.3410-46_3410-45del (n.3410-46_3410-45del) | gnomAD v4 |
11 | g.47332748del | CA079414 | MYBPC3 | c.3491-45del (n.3491-45del) c.3473-45del (n.3473-45del) c.3410-45del (n.3410-45del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332748G>A | CA599374164 | MYBPC3 | c.3491-46C>T (n.3491-46C>T) c.3473-46C>T (n.3473-46C>T) c.3410-46C>T (n.3410-46C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332748G= | CA1969334487 | MYBPC3 | c.3491-46C= (n.3491-46C=) c.3473-46C= (n.3473-46C=) c.3410-46C= (n.3410-46C=) | |
11 | g.47332748G>T | CA937665606 | MYBPC3 | c.3491-46C>A (n.3491-46C>A) c.3473-46C>A (n.3473-46C>A) c.3410-46C>A (n.3410-46C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332749C>A | CA2613392528 | MYBPC3 | c.3491-47G>T (n.3491-47G>T) c.3473-47G>T (n.3473-47G>T) c.3410-47G>T (n.3410-47G>T) | gnomAD v4 |
11 | g.47332749C= | CA1969334488 | MYBPC3 | c.3491-47G= (n.3491-47G=) c.3473-47G= (n.3473-47G=) c.3410-47G= (n.3410-47G=) | |
11 | g.47332749C>T | CA599374165 | MYBPC3 | c.3491-47G>A (n.3491-47G>A) c.3473-47G>A (n.3473-47G>A) c.3410-47G>A (n.3410-47G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332750C= | CA1969334489 | MYBPC3 | c.3491-48G= (n.3491-48G=) c.3473-48G= (n.3473-48G=) c.3410-48G= (n.3410-48G=) | |
11 | g.47332750C>T | CA079416 | MYBPC3 | c.3491-48G>A (n.3491-48G>A) c.3473-48G>A (n.3473-48G>A) c.3410-48G>A (n.3410-48G>A) | dbSNP ExAC gnomAD v4 |
11 | g.47332750_47332751insACAG | CA2613392529 | MYBPC3 | c.3491-49_3491-48insCTGT (n.3491-49_3491-48insCTGT) c.3473-49_3473-48insCTGT (n.3473-49_3473-48insCTGT) c.3410-49_3410-48insCTGT (n.3410-49_3410-48insCTGT) | gnomAD v4 |
11 | g.47332751C>A | CA2613392530 | MYBPC3 | c.3491-49G>T (n.3491-49G>T) c.3473-49G>T (n.3473-49G>T) c.3410-49G>T (n.3410-49G>T) | gnomAD v4 |
11 | g.47332751C>T | CA2613392531 | MYBPC3 | c.3491-49G>A (n.3491-49G>A) c.3473-49G>A (n.3473-49G>A) c.3410-49G>A (n.3410-49G>A) | gnomAD v4 |
11 | g.47332752C>A | CA2613392533 | MYBPC3 | c.3491-50G>T (n.3491-50G>T) c.3473-50G>T (n.3473-50G>T) c.3410-50G>T (n.3410-50G>T) | gnomAD v4 |
11 | g.47332752C= | CA1969334490 | MYBPC3 | c.3491-50G= (n.3491-50G=) c.3473-50G= (n.3473-50G=) c.3410-50G= (n.3410-50G=) | |
11 | g.47332752C>G | CA2791331642 | MYBPC3 | c.3491-50G>C (n.3491-50G>C) c.3473-50G>C (n.3473-50G>C) c.3410-50G>C (n.3410-50G>C) | |
11 | g.47332752C>T | CA677014020 | MYBPC3 | c.3491-50G>A (n.3491-50G>A) c.3473-50G>A (n.3473-50G>A) c.3410-50G>A (n.3410-50G>A) | dbSNP gnomAD v4 |
11 | g.47332755_47332756del | CA2613392532 | MYBPC3 | c.3491-51_3491-50del (n.3491-51_3491-50del) c.3473-51_3473-50del (n.3473-51_3473-50del) c.3410-51_3410-50del (n.3410-51_3410-50del) | gnomAD v4 |