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.47332900_47332902del | CA014090 | MYBPC3 | c.3407_3409del (p.Tyr1136del) c.3389_3391del (p.Tyr1130del) c.3326_3328del (p.Tyr1109del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332899G>A | CA053815 | MYBPC3 | c.3405C>T (p.Tyr1135=) c.3387C>T (p.Tyr1129=) c.3324C>T (p.Tyr1108=) | ClinVar gnomAD v4 |
11 | g.47332899G>C | CA380313547 | MYBPC3 | c.3405C>G (p.Tyr1135Ter) c.3387C>G (p.Tyr1129Ter) c.3324C>G (p.Tyr1108Ter) | |
11 | g.47332899G>T | CA380313549 | MYBPC3 | c.3405C>A (p.Tyr1135Ter) c.3387C>A (p.Tyr1129Ter) c.3324C>A (p.Tyr1108Ter) | gnomAD v4 |
11 | g.47332900T>A | CA380313554 | MYBPC3 | c.3404A>T (p.Tyr1135Phe) c.3386A>T (p.Tyr1129Phe) c.3323A>T (p.Tyr1108Phe) | |
11 | g.47332900T>C | CA380313557 | MYBPC3 | c.3404A>G (p.Tyr1135Cys) c.3386A>G (p.Tyr1129Cys) c.3323A>G (p.Tyr1108Cys) | |
11 | g.47332900T>G | CA380313559 | MYBPC3 | c.3404A>C (p.Tyr1135Ser) c.3386A>C (p.Tyr1129Ser) c.3323A>C (p.Tyr1108Ser) | |
11 | g.47332901A>C | CA380313564 | MYBPC3 | c.3403T>G (p.Tyr1135Asp) c.3385T>G (p.Tyr1129Asp) c.3322T>G (p.Tyr1108Asp) | |
11 | g.47332901A>G | CA380313567 | MYBPC3 | c.3403T>C (p.Tyr1135His) c.3385T>C (p.Tyr1129His) c.3322T>C (p.Tyr1108His) | |
11 | g.47332901A>T | CA380313569 | MYBPC3 | c.3403T>A (p.Tyr1135Asn) c.3385T>A (p.Tyr1129Asn) c.3322T>A (p.Tyr1108Asn) | |
11 | g.47332902del | CA2580084218 | MYBPC3 | c.3402del (p.Tyr1135ThrfsTer?) c.3384del (p.Tyr1129ThrfsTer?) c.3321del (p.Tyr1108ThrfsTer?) | ClinVar |
11 | g.47332902G>A | CA474429045 | MYBPC3 | c.3402C>T (p.Gly1134=) c.3384C>T (p.Gly1128=) c.3321C>T (p.Gly1107=) | |
11 | g.47332902G>C | CA474429046 | MYBPC3 | c.3402C>G (p.Gly1134=) c.3384C>G (p.Gly1128=) c.3321C>G (p.Gly1107=) | ClinVar dbSNP |
11 | g.47332902G= | CA1969334696 | MYBPC3 | c.3402C= (p.Gly1134=) c.3384C= (p.Gly1128=) c.3321C= (p.Gly1107=) | |
11 | g.47332902G>T | CA474429047 | MYBPC3 | c.3402C>A (p.Gly1134=) c.3384C>A (p.Gly1128=) c.3321C>A (p.Gly1107=) | gnomAD v4 |
11 | g.47332903C>A | CA380313571 | MYBPC3 | c.3401G>T (p.Gly1134Val) c.3383G>T (p.Gly1128Val) c.3320G>T (p.Gly1107Val) | |
11 | g.47332903C= | CA1969334698 | MYBPC3 | c.3401G= (p.Gly1134=) c.3383G= (p.Gly1128=) c.3320G= (p.Gly1107=) | |
11 | g.47332903C>G | CA380313575 | MYBPC3 | c.3401G>C (p.Gly1134Ala) c.3383G>C (p.Gly1128Ala) c.3320G>C (p.Gly1107Ala) | |
11 | g.47332903C>T | CA221682263 | MYBPC3 | c.3401G>A (p.Gly1134Asp) c.3383G>A (p.Gly1128Asp) c.3320G>A (p.Gly1107Asp) | dbSNP gnomAD v4 COSMIC |
11 | g.47332904C>A | CA380313586 | MYBPC3 | c.3400G>T (p.Gly1134Cys) c.3382G>T (p.Gly1128Cys) c.3319G>T (p.Gly1107Cys) | |
11 | g.47332904C>G | CA380313583 | MYBPC3 | c.3400G>C (p.Gly1134Arg) c.3382G>C (p.Gly1128Arg) c.3319G>C (p.Gly1107Arg) | |
11 | g.47332904C>T | CA380313580 | MYBPC3 | c.3400G>A (p.Gly1134Ser) c.3382G>A (p.Gly1128Ser) c.3319G>A (p.Gly1107Ser) | gnomAD v4 |
11 | g.47332905A= | CA1969334699 | MYBPC3 | c.3399T= (p.Asn1133=) c.3381T= (p.Asn1127=) c.3318T= (p.Asn1106=) | |
11 | g.47332905A>C | CA380313589 | MYBPC3 | c.3399T>G (p.Asn1133Lys) c.3381T>G (p.Asn1127Lys) c.3318T>G (p.Asn1106Lys) | |
11 | g.47332905A>G | CA474429048 | MYBPC3 | c.3399T>C (p.Asn1133=) c.3381T>C (p.Asn1127=) c.3318T>C (p.Asn1106=) | dbSNP gnomAD v4 |
11 | g.47332905A>T | CA380313593 | MYBPC3 | c.3399T>A (p.Asn1133Lys) c.3381T>A (p.Asn1127Lys) c.3318T>A (p.Asn1106Lys) | gnomAD v4 |
11 | g.47332906T>A | CA380313596 | MYBPC3 | c.3398A>T (p.Asn1133Ile) c.3380A>T (p.Asn1127Ile) c.3317A>T (p.Asn1106Ile) | |
11 | g.47332906T>C | CA221682267 | MYBPC3 | c.3398A>G (p.Asn1133Ser) c.3380A>G (p.Asn1127Ser) c.3317A>G (p.Asn1106Ser) | dbSNP gnomAD v2 |
11 | g.47332906T>G | CA380313600 | MYBPC3 | c.3398A>C (p.Asn1133Thr) c.3380A>C (p.Asn1127Thr) c.3317A>C (p.Asn1106Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332906T= | CA1969334700 | MYBPC3 | c.3398A= (p.Asn1133=) c.3380A= (p.Asn1127=) c.3317A= (p.Asn1106=) | |
11 | g.47332907T>A | CA380313605 | MYBPC3 | c.3397A>T (p.Asn1133Tyr) c.3379A>T (p.Asn1127Tyr) c.3316A>T (p.Asn1106Tyr) | |
11 | g.47332907T>C | CA380313608 | MYBPC3 | c.3397A>G (p.Asn1133Asp) c.3379A>G (p.Asn1127Asp) c.3316A>G (p.Asn1106Asp) | |
11 | g.47332907T>G | CA380313611 | MYBPC3 | c.3397A>C (p.Asn1133His) c.3379A>C (p.Asn1127His) c.3316A>C (p.Asn1106His) | |
11 | g.47332908G>A | CA079350 | MYBPC3 | c.3396C>T (p.Gly1132=) c.3378C>T (p.Gly1126=) c.3315C>T (p.Gly1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332908G>C | CA474429049 | MYBPC3 | c.3396C>G (p.Gly1132=) c.3378C>G (p.Gly1126=) c.3315C>G (p.Gly1105=) | |
11 | g.47332908G= | CA1969334702 | MYBPC3 | c.3396C= (p.Gly1132=) c.3378C= (p.Gly1126=) c.3315C= (p.Gly1105=) | |
11 | g.47332908G>T | CA474429050 | MYBPC3 | c.3396C>A (p.Gly1132=) c.3378C>A (p.Gly1126=) c.3315C>A (p.Gly1105=) | gnomAD v4 |
11 | g.47332909C>A | CA380313618 | MYBPC3 | c.3395G>T (p.Gly1132Val) c.3377G>T (p.Gly1126Val) c.3314G>T (p.Gly1105Val) | |
11 | g.47332909C>G | CA380313620 | MYBPC3 | c.3395G>C (p.Gly1132Ala) c.3377G>C (p.Gly1126Ala) c.3314G>C (p.Gly1105Ala) | |
11 | g.47332909C>T | CA380313623 | MYBPC3 | c.3395G>A (p.Gly1132Asp) c.3377G>A (p.Gly1126Asp) c.3314G>A (p.Gly1105Asp) | COSMIC COSMIC |
11 | g.47332910C>A | CA380313632 | MYBPC3 | c.3394G>T (p.Gly1132Cys) c.3376G>T (p.Gly1126Cys) c.3313G>T (p.Gly1105Cys) | |
11 | g.47332910C>G | CA380313629 | MYBPC3 | c.3394G>C (p.Gly1132Arg) c.3376G>C (p.Gly1126Arg) c.3313G>C (p.Gly1105Arg) | |
11 | g.47332910C>T | CA380313626 | MYBPC3 | c.3394G>A (p.Gly1132Ser) c.3376G>A (p.Gly1126Ser) c.3313G>A (p.Gly1105Ser) | |
11 | g.47332911A>C | CA380313634 | MYBPC3 | c.3393T>G (p.Ile1131Met) c.3375T>G (p.Ile1125Met) c.3312T>G (p.Ile1104Met) | |
11 | g.47332911A>G | CA474429051 | MYBPC3 | c.3393T>C (p.Ile1131=) c.3375T>C (p.Ile1125=) c.3312T>C (p.Ile1104=) | |
11 | g.47332911A>T | CA474429052 | MYBPC3 | c.3393T>A (p.Ile1131=) c.3375T>A (p.Ile1125=) c.3312T>A (p.Ile1104=) | |
11 | g.47332912A= | CA1969334704 | MYBPC3 | c.3392T= (p.Ile1131=) c.3374T= (p.Ile1125=) c.3311T= (p.Ile1104=) | |
11 | g.47332912A>C | CA380313645 | MYBPC3 | c.3392T>G (p.Ile1131Ser) c.3374T>G (p.Ile1125Ser) c.3311T>G (p.Ile1104Ser) | |
11 | g.47332912A>G | CA014070 | MYBPC3 | c.3392T>C (p.Ile1131Thr) c.3374T>C (p.Ile1125Thr) c.3311T>C (p.Ile1104Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332912A>T | CA380313643 | MYBPC3 | c.3392T>A (p.Ile1131Asn) c.3374T>A (p.Ile1125Asn) c.3311T>A (p.Ile1104Asn) | |
11 | g.47332913T>A | CA380313648 | MYBPC3 | c.3391A>T (p.Ile1131Phe) c.3373A>T (p.Ile1125Phe) c.3310A>T (p.Ile1104Phe) | gnomAD v4 |
11 | g.47332913T>C | CA380313650 | MYBPC3 | c.3391A>G (p.Ile1131Val) c.3373A>G (p.Ile1125Val) c.3310A>G (p.Ile1104Val) | |
11 | g.47332913T>G | CA380313653 | MYBPC3 | c.3391A>C (p.Ile1131Leu) c.3373A>C (p.Ile1125Leu) c.3310A>C (p.Ile1104Leu) | |
11 | g.47332914G>A | CA474429053 | MYBPC3 | c.3390C>T (p.Ile1130=) c.3372C>T (p.Ile1124=) c.3309C>T (p.Ile1103=) | ClinVar gnomAD v4 |
11 | g.47332914G>C | CA380313659 | MYBPC3 | c.3390C>G (p.Ile1130Met) c.3372C>G (p.Ile1124Met) c.3309C>G (p.Ile1103Met) | |
11 | g.47332914G>T | CA474429054 | MYBPC3 | c.3390C>A (p.Ile1130=) c.3372C>A (p.Ile1124=) c.3309C>A (p.Ile1103=) | gnomAD v4 COSMIC |
11 | g.47332915A>C | CA380313663 | MYBPC3 | c.3389T>G (p.Ile1130Ser) c.3371T>G (p.Ile1124Ser) c.3308T>G (p.Ile1103Ser) | |
11 | g.47332915A>G | CA053779 | MYBPC3 | c.3389T>C (p.Ile1130Thr) c.3371T>C (p.Ile1124Thr) c.3308T>C (p.Ile1103Thr) | |
11 | g.47332915A>T | CA380313668 | MYBPC3 | c.3389T>A (p.Ile1130Asn) c.3371T>A (p.Ile1124Asn) c.3308T>A (p.Ile1103Asn) | |
11 | g.47332916T>A | CA380313671 | MYBPC3 | c.3388A>T (p.Ile1130Phe) c.3370A>T (p.Ile1124Phe) c.3307A>T (p.Ile1103Phe) | |
11 | g.47332916T>C | CA380313674 | MYBPC3 | c.3388A>G (p.Ile1130Val) c.3370A>G (p.Ile1124Val) c.3307A>G (p.Ile1103Val) | |
11 | g.47332916T>G | CA380313678 | MYBPC3 | c.3388A>C (p.Ile1130Leu) c.3370A>C (p.Ile1124Leu) c.3307A>C (p.Ile1103Leu) | |
11 | g.47332918_47332924del | CA2697548533 | MYBPC3 | c.3382_3388del (p.Glu1128SerfsTer?) c.3364_3370del (p.Glu1122SerfsTer?) c.3301_3307del (p.Glu1101SerfsTer?) | ClinVar |
11 | g.47332917G>A | CA474429055 | MYBPC3 | c.3387C>T (p.Leu1129=) c.3369C>T (p.Leu1123=) c.3306C>T (p.Leu1102=) | dbSNP |
11 | g.47332917G>C | CA474429056 | MYBPC3 | c.3387C>G (p.Leu1129=) c.3369C>G (p.Leu1123=) c.3306C>G (p.Leu1102=) | |
11 | g.47332917G= | CA1969334705 | MYBPC3 | c.3387C= (p.Leu1129=) c.3369C= (p.Leu1123=) c.3306C= (p.Leu1102=) | |
11 | g.47332917G>T | CA474429057 | MYBPC3 | c.3387C>A (p.Leu1129=) c.3369C>A (p.Leu1123=) c.3306C>A (p.Leu1102=) | |
11 | g.47332918_47332932del | CA2695213917 | MYBPC3 | c.3373_3387del (p.Val1125_Leu1129del) c.3355_3369del (p.Val1119_Leu1123del) c.3292_3306del (p.Val1098_Leu1102del) | |
11 | g.47332918A>C | CA380313685 | MYBPC3 | c.3386T>G (p.Leu1129Arg) c.3368T>G (p.Leu1123Arg) c.3305T>G (p.Leu1102Arg) | |
11 | g.47332918A>G | CA380313681 | MYBPC3 | c.3386T>C (p.Leu1129Pro) c.3368T>C (p.Leu1123Pro) c.3305T>C (p.Leu1102Pro) | |
11 | g.47332918A>T | CA380313683 | MYBPC3 | c.3386T>A (p.Leu1129His) c.3368T>A (p.Leu1123His) c.3305T>A (p.Leu1102His) | |
11 | g.47332919G>A | CA380313687 | MYBPC3 | c.3385C>T (p.Leu1129Phe) c.3367C>T (p.Leu1123Phe) c.3304C>T (p.Leu1102Phe) | gnomAD v4 |
11 | g.47332919G>C | CA380313689 | MYBPC3 | c.3385C>G (p.Leu1129Val) c.3367C>G (p.Leu1123Val) c.3304C>G (p.Leu1102Val) | |
11 | g.47332919G>T | CA380313690 | MYBPC3 | c.3385C>A (p.Leu1129Ile) c.3367C>A (p.Leu1123Ile) c.3304C>A (p.Leu1102Ile) | |
11 | g.47332920C>A | CA380313691 | MYBPC3 | c.3384G>T (p.Glu1128Asp) c.3366G>T (p.Glu1122Asp) c.3303G>T (p.Glu1101Asp) | COSMIC COSMIC |
11 | g.47332920C= | CA1969334707 | MYBPC3 | c.3384G= (p.Glu1128=) c.3366G= (p.Glu1122=) c.3303G= (p.Glu1101=) | |
11 | g.47332920C>G | CA014054 | MYBPC3 | c.3384G>C (p.Glu1128Asp) c.3366G>C (p.Glu1122Asp) c.3303G>C (p.Glu1101Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332920C>T | CA474429058 | MYBPC3 | c.3384G>A (p.Glu1128=) c.3366G>A (p.Glu1122=) c.3303G>A (p.Glu1101=) | |
11 | g.47332921T>A | CA380313695 | MYBPC3 | c.3383A>T (p.Glu1128Val) c.3365A>T (p.Glu1122Val) c.3302A>T (p.Glu1101Val) | |
11 | g.47332921T>C | CA380313697 | MYBPC3 | c.3383A>G (p.Glu1128Gly) c.3365A>G (p.Glu1122Gly) c.3302A>G (p.Glu1101Gly) | |
11 | g.47332921T>G | CA079345 | MYBPC3 | c.3383A>C (p.Glu1128Ala) c.3365A>C (p.Glu1122Ala) c.3302A>C (p.Glu1101Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332921T= | CA1969334708 | MYBPC3 | c.3383A= (p.Glu1128=) c.3365A= (p.Glu1122=) c.3302A= (p.Glu1101=) | |
11 | g.47332922C>A | CA380313701 | MYBPC3 | c.3382G>T (p.Glu1128Ter) c.3364G>T (p.Glu1122Ter) c.3301G>T (p.Glu1101Ter) | |
11 | g.47332922C>G | CA380313703 | MYBPC3 | c.3382G>C (p.Glu1128Gln) c.3364G>C (p.Glu1122Gln) c.3301G>C (p.Glu1101Gln) | |
11 | g.47332922C>T | CA380313706 | MYBPC3 | c.3382G>A (p.Glu1128Lys) c.3364G>A (p.Glu1122Lys) c.3301G>A (p.Glu1101Lys) | |
11 | g.47332923T>A | CA474429059 | MYBPC3 | c.3381A>T (p.Pro1127=) c.3363A>T (p.Pro1121=) c.3300A>T (p.Pro1100=) | dbSNP gnomAD v4 |
11 | g.47332923T>C | CA221682277 | MYBPC3 | c.3381A>G (p.Pro1127=) c.3363A>G (p.Pro1121=) c.3300A>G (p.Pro1100=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332923T>G | CA474429060 | MYBPC3 | c.3381A>C (p.Pro1127=) c.3363A>C (p.Pro1121=) c.3300A>C (p.Pro1100=) | |
11 | g.47332923T= | CA1969334710 | MYBPC3 | c.3381A= (p.Pro1127=) c.3363A= (p.Pro1121=) c.3300A= (p.Pro1100=) | |
11 | g.47332924G>A | CA380313711 | MYBPC3 | c.3380C>T (p.Pro1127Leu) c.3362C>T (p.Pro1121Leu) c.3299C>T (p.Pro1100Leu) | gnomAD v4 |
11 | g.47332924G>C | CA380313713 | MYBPC3 | c.3380C>G (p.Pro1127Arg) c.3362C>G (p.Pro1121Arg) c.3299C>G (p.Pro1100Arg) | |
11 | g.47332924G>T | CA380313710 | MYBPC3 | c.3380C>A (p.Pro1127Gln) c.3362C>A (p.Pro1121Gln) c.3299C>A (p.Pro1100Gln) | |
11 | g.47332925G>A | CA380313716 | MYBPC3 | c.3379C>T (p.Pro1127Ser) c.3361C>T (p.Pro1121Ser) c.3298C>T (p.Pro1100Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332925G>C | CA380313718 | MYBPC3 | c.3379C>G (p.Pro1127Ala) c.3361C>G (p.Pro1121Ala) c.3298C>G (p.Pro1100Ala) | |
11 | g.47332925G= | CA1969334712 | MYBPC3 | c.3379C= (p.Pro1127=) c.3361C= (p.Pro1121=) c.3298C= (p.Pro1100=) | |
11 | g.47332925G>T | CA380313719 | MYBPC3 | c.3379C>A (p.Pro1127Thr) c.3361C>A (p.Pro1121Thr) c.3298C>A (p.Pro1100Thr) | |
11 | g.47332926C>A | CA474429063 | MYBPC3 | c.3378G>T (p.Val1126=) c.3360G>T (p.Val1120=) c.3297G>T (p.Val1099=) | dbSNP gnomAD v4 |
11 | g.47332926C= | CA1969334713 | MYBPC3 | c.3378G= (p.Val1126=) c.3360G= (p.Val1120=) c.3297G= (p.Val1099=) | |
11 | g.47332926C>G | CA474429062 | MYBPC3 | c.3378G>C (p.Val1126=) c.3360G>C (p.Val1120=) c.3297G>C (p.Val1099=) | |
11 | g.47332926C>T | CA474429061 | MYBPC3 | c.3378G>A (p.Val1126=) c.3360G>A (p.Val1120=) c.3297G>A (p.Val1099=) | gnomAD v4 |
11 | g.47332927A>C | CA380313722 | MYBPC3 | c.3377T>G (p.Val1126Gly) c.3359T>G (p.Val1120Gly) c.3296T>G (p.Val1099Gly) | |
11 | g.47332927A>G | CA380313724 | MYBPC3 | c.3377T>C (p.Val1126Ala) c.3359T>C (p.Val1120Ala) c.3296T>C (p.Val1099Ala) | |
11 | g.47332927A>T | CA380313726 | MYBPC3 | c.3377T>A (p.Val1126Glu) c.3359T>A (p.Val1120Glu) c.3296T>A (p.Val1099Glu) | |
11 | g.47332928C>A | CA380313728 | MYBPC3 | c.3376G>T (p.Val1126Leu) c.3358G>T (p.Val1120Leu) c.3295G>T (p.Val1099Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332928C= | CA1969334715 | MYBPC3 | c.3376G= (p.Val1126=) c.3358G= (p.Val1120=) c.3295G= (p.Val1099=) | |
11 | g.47332928C>G | CA380313730 | MYBPC3 | c.3376G>C (p.Val1126Leu) c.3358G>C (p.Val1120Leu) c.3295G>C (p.Val1099Leu) | ClinVar dbSNP |
11 | g.47332928C>T | CA380313732 | MYBPC3 | c.3376G>A (p.Val1126Met) c.3358G>A (p.Val1120Met) c.3295G>A (p.Val1099Met) | |
11 | g.47332929C>A | CA474429064 | MYBPC3 | c.3375G>T (p.Val1125=) c.3357G>T (p.Val1119=) c.3294G>T (p.Val1098=) | |
11 | g.47332929C>G | CA474429065 | MYBPC3 | c.3375G>C (p.Val1125=) c.3357G>C (p.Val1119=) c.3294G>C (p.Val1098=) | |
11 | g.47332929C>T | CA474429066 | MYBPC3 | c.3375G>A (p.Val1125=) c.3357G>A (p.Val1119=) c.3294G>A (p.Val1098=) | |
11 | g.47332930A= | CA1969334716 | MYBPC3 | c.3374T= (p.Val1125=) c.3356T= (p.Val1119=) c.3293T= (p.Val1098=) | |
11 | g.47332930A>C | CA380313734 | MYBPC3 | c.3374T>G (p.Val1125Gly) c.3356T>G (p.Val1119Gly) c.3293T>G (p.Val1098Gly) | |
11 | g.47332930A>G | CA380313736 | MYBPC3 | c.3374T>C (p.Val1125Ala) c.3356T>C (p.Val1119Ala) c.3293T>C (p.Val1098Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47332930A>T | CA380313738 | MYBPC3 | c.3374T>A (p.Val1125Glu) c.3356T>A (p.Val1119Glu) c.3293T>A (p.Val1098Glu) | |
11 | g.47332931C>A | CA014048 | MYBPC3 | c.3373G>T (p.Val1125Leu) c.3355G>T (p.Val1119Leu) c.3292G>T (p.Val1098Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332931C= | CA1969334717 | MYBPC3 | c.3373G= (p.Val1125=) c.3355G= (p.Val1119=) c.3292G= (p.Val1098=) | |
11 | g.47332931C>G | CA380313744 | MYBPC3 | c.3373G>C (p.Val1125Leu) c.3355G>C (p.Val1119Leu) c.3292G>C (p.Val1098Leu) | gnomAD v4 |
11 | g.47332931C>T | CA014038 | MYBPC3 | c.3373G>A (p.Val1125Met) c.3355G>A (p.Val1119Met) c.3292G>A (p.Val1098Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332932G>A | CA221682283 | MYBPC3 | c.3372C>T (p.Cys1124=) c.3354C>T (p.Cys1118=) c.3291C>T (p.Cys1097=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332932G>C | CA380313748 | MYBPC3 | c.3372C>G (p.Cys1124Trp) c.3354C>G (p.Cys1118Trp) c.3291C>G (p.Cys1097Trp) | |
11 | g.47332932G= | CA1969334720 | MYBPC3 | c.3372C= (p.Cys1124=) c.3354C= (p.Cys1118=) c.3291C= (p.Cys1097=) | |
11 | g.47332932G>T | CA014029 | MYBPC3 | c.3372C>A (p.Cys1124Ter) c.3354C>A (p.Cys1118Ter) c.3291C>A (p.Cys1097Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332933C>A | CA380313753 | MYBPC3 | c.3371G>T (p.Cys1124Phe) c.3353G>T (p.Cys1118Phe) c.3290G>T (p.Cys1097Phe) | dbSNP gnomAD v4 |
11 | g.47332933C= | CA1969334724 | MYBPC3 | c.3371G= (p.Cys1124=) c.3353G= (p.Cys1118=) c.3290G= (p.Cys1097=) | |
11 | g.47332933C>G | CA380313755 | MYBPC3 | c.3371G>C (p.Cys1124Ser) c.3353G>C (p.Cys1118Ser) c.3290G>C (p.Cys1097Ser) | |
11 | g.47332933C>T | CA079338 | MYBPC3 | c.3371G>A (p.Cys1124Tyr) c.3353G>A (p.Cys1118Tyr) c.3290G>A (p.Cys1097Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332934A= | CA1969334726 | MYBPC3 | c.3370T= (p.Cys1124=) c.3352T= (p.Cys1118=) c.3289T= (p.Cys1097=) | |
11 | g.47332934A>C | CA380313760 | MYBPC3 | c.3370T>G (p.Cys1124Gly) c.3352T>G (p.Cys1118Gly) c.3289T>G (p.Cys1097Gly) | |
11 | g.47332934A>G | CA380313764 | MYBPC3 | c.3370T>C (p.Cys1124Arg) c.3352T>C (p.Cys1118Arg) c.3289T>C (p.Cys1097Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332934A>T | CA380313762 | MYBPC3 | c.3370T>A (p.Cys1124Ser) c.3352T>A (p.Cys1118Ser) c.3289T>A (p.Cys1097Ser) | ClinVar dbSNP |
11 | g.47332934_47332935insT | CA2580084219 | MYBPC3 | c.3369_3370insA (p.Cys1124MetfsTer25) c.3351_3352insA (p.Cys1118MetfsTer25) c.3288_3289insA (p.Cys1097MetfsTer25) | ClinVar |
11 | g.47332935G>A | CA474429067 | MYBPC3 | c.3369C>T (p.His1123=) c.3351C>T (p.His1117=) c.3288C>T (p.His1096=) | ClinVar gnomAD v4 |
11 | g.47332935G>C | CA380313767 | MYBPC3 | c.3369C>G (p.His1123Gln) c.3351C>G (p.His1117Gln) c.3288C>G (p.His1096Gln) | |
11 | g.47332935G>T | CA053722 | MYBPC3 | c.3369C>A (p.His1123Gln) c.3351C>A (p.His1117Gln) c.3288C>A (p.His1096Gln) | |
11 | g.47332935dup | CA2695213919 | MYBPC3 | c.3369dup (p.Cys1124LeufsTer25) c.3351dup (p.Cys1118LeufsTer25) c.3288dup (p.Cys1097LeufsTer25) | |
11 | g.47332936T>A | CA380313771 | MYBPC3 | c.3368A>T (p.His1123Leu) c.3350A>T (p.His1117Leu) c.3287A>T (p.His1096Leu) | |
11 | g.47332936T>C | CA380313773 | MYBPC3 | c.3368A>G (p.His1123Arg) c.3350A>G (p.His1117Arg) c.3287A>G (p.His1096Arg) | |
11 | g.47332936T>G | CA380313774 | MYBPC3 | c.3368A>C (p.His1123Pro) c.3350A>C (p.His1117Pro) c.3287A>C (p.His1096Pro) | |
11 | g.47332937G>A | CA380313779 | MYBPC3 | c.3367C>T (p.His1123Tyr) c.3349C>T (p.His1117Tyr) c.3286C>T (p.His1096Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332937G>C | CA380313781 | MYBPC3 | c.3367C>G (p.His1123Asp) c.3349C>G (p.His1117Asp) c.3286C>G (p.His1096Asp) | ClinVar |
11 | g.47332937G= | CA1969334727 | MYBPC3 | c.3367C= (p.His1123=) c.3349C= (p.His1117=) c.3286C= (p.His1096=) | |
11 | g.47332937G>T | CA380313777 | MYBPC3 | c.3367C>A (p.His1123Asn) c.3349C>A (p.His1117Asn) c.3286C>A (p.His1096Asn) | |
11 | g.47332939del | CA2695213920 | MYBPC3 | c.3367del (p.His1123ThrfsTer?) c.3349del (p.His1117ThrfsTer?) c.3286del (p.His1096ThrfsTer?) | |
11 | g.47332938G>A | CA474429068 | MYBPC3 | c.3366C>T (p.Thr1122=) c.3348C>T (p.Thr1116=) c.3285C>T (p.Thr1095=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332938G>C | CA474429069 | MYBPC3 | c.3366C>G (p.Thr1122=) c.3348C>G (p.Thr1116=) c.3285C>G (p.Thr1095=) | |
11 | g.47332938G= | CA1969334729 | MYBPC3 | c.3366C= (p.Thr1122=) c.3348C= (p.Thr1116=) c.3285C= (p.Thr1095=) | |
11 | g.47332938G>T | CA474429070 | MYBPC3 | c.3366C>A (p.Thr1122=) c.3348C>A (p.Thr1116=) c.3285C>A (p.Thr1095=) | |
11 | g.47332939G>A | CA380313785 | MYBPC3 | c.3365C>T (p.Thr1122Ile) c.3347C>T (p.Thr1116Ile) c.3284C>T (p.Thr1095Ile) | gnomAD v4 |
11 | g.47332939G>C | CA380313783 | MYBPC3 | c.3365C>G (p.Thr1122Ser) c.3347C>G (p.Thr1116Ser) c.3284C>G (p.Thr1095Ser) | |
11 | g.47332939G>T | CA380313787 | MYBPC3 | c.3365C>A (p.Thr1122Asn) c.3347C>A (p.Thr1116Asn) c.3284C>A (p.Thr1095Asn) | |
11 | g.47332940T>A | CA221682291 | MYBPC3 | c.3364A>T (p.Thr1122Ser) c.3346A>T (p.Thr1116Ser) c.3283A>T (p.Thr1095Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332940T>C | CA380313789 | MYBPC3 | c.3364A>G (p.Thr1122Ala) c.3346A>G (p.Thr1116Ala) c.3283A>G (p.Thr1095Ala) | |
11 | g.47332940T>G | CA380313790 | MYBPC3 | c.3364A>C (p.Thr1122Pro) c.3346A>C (p.Thr1116Pro) c.3283A>C (p.Thr1095Pro) | |
11 | g.47332940T= | CA1969334730 | MYBPC3 | c.3364A= (p.Thr1122=) c.3346A= (p.Thr1116=) c.3283A= (p.Thr1095=) | |
11 | g.47332941G>A | CA079336 | MYBPC3 | c.3363C>T (p.Arg1121=) c.3345C>T (p.Arg1115=) c.3282C>T (p.Arg1094=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332941G>C | CA474429071 | MYBPC3 | c.3363C>G (p.Arg1121=) c.3345C>G (p.Arg1115=) c.3282C>G (p.Arg1094=) | |
11 | g.47332941G= | CA1969334731 | MYBPC3 | c.3363C= (p.Arg1121=) c.3345C= (p.Arg1115=) c.3282C= (p.Arg1094=) | |
11 | g.47332941G>T | CA474429072 | MYBPC3 | c.3363C>A (p.Arg1121=) c.3345C>A (p.Arg1115=) c.3282C>A (p.Arg1094=) | |
11 | g.47332942C>A | CA380313794 | MYBPC3 | c.3362G>T (p.Arg1121Leu) c.3344G>T (p.Arg1115Leu) c.3281G>T (p.Arg1094Leu) | |
11 | g.47332942C= | CA1969334733 | MYBPC3 | c.3362G= (p.Arg1121=) c.3344G= (p.Arg1115=) c.3281G= (p.Arg1094=) | |
11 | g.47332942C>G | CA380313797 | MYBPC3 | c.3362G>C (p.Arg1121Pro) c.3344G>C (p.Arg1115Pro) c.3281G>C (p.Arg1094Pro) | |
11 | g.47332942C>T | CA014019 | MYBPC3 | c.3362G>A (p.Arg1121His) c.3344G>A (p.Arg1115His) c.3281G>A (p.Arg1094His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332943G>A | CA079332 | MYBPC3 | c.3361C>T (p.Arg1121Cys) c.3343C>T (p.Arg1115Cys) c.3280C>T (p.Arg1094Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332943G>C | CA380313806 | MYBPC3 | c.3361C>G (p.Arg1121Gly) c.3343C>G (p.Arg1115Gly) c.3280C>G (p.Arg1094Gly) | |
11 | g.47332943G= | CA1969334734 | MYBPC3 | c.3361C= (p.Arg1121=) c.3343C= (p.Arg1115=) c.3280C= (p.Arg1094=) | |
11 | g.47332943G>T | CA380313808 | MYBPC3 | c.3361C>A (p.Arg1121Ser) c.3343C>A (p.Arg1115Ser) c.3280C>A (p.Arg1094Ser) | |
11 | g.47332944G>A | CA053702 | MYBPC3 | c.3360C>T (p.Arg1120=) c.3342C>T (p.Arg1114=) c.3279C>T (p.Arg1093=) | |
11 | g.47332944G>C | CA474429073 | MYBPC3 | c.3360C>G (p.Arg1120=) c.3342C>G (p.Arg1114=) c.3279C>G (p.Arg1093=) | |
11 | g.47332944G>T | CA474429074 | MYBPC3 | c.3360C>A (p.Arg1120=) c.3342C>A (p.Arg1114=) c.3279C>A (p.Arg1093=) | |
11 | g.47332945C>A | CA380313812 | MYBPC3 | c.3359G>T (p.Arg1120Leu) c.3341G>T (p.Arg1114Leu) c.3278G>T (p.Arg1093Leu) | gnomAD v4 |
11 | g.47332945C= | CA1969334736 | MYBPC3 | c.3359G= (p.Arg1120=) c.3341G= (p.Arg1114=) c.3278G= (p.Arg1093=) | |
11 | g.47332945C>G | CA380313814 | MYBPC3 | c.3359G>C (p.Arg1120Pro) c.3341G>C (p.Arg1114Pro) c.3278G>C (p.Arg1093Pro) | |
11 | g.47332945C>T | CA053690 | MYBPC3 | c.3359G>A (p.Arg1120His) c.3341G>A (p.Arg1114His) c.3278G>A (p.Arg1093His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332945dup | CA2739270415 | MYBPC3 | c.3359dup (p.Arg1121ProfsTer28) c.3341dup (p.Arg1115ProfsTer28) c.3278dup (p.Arg1094ProfsTer28) | ClinVar |
11 | g.47332946G>A | CA053677 | MYBPC3 | c.3358C>T (p.Arg1120Cys) c.3340C>T (p.Arg1114Cys) c.3277C>T (p.Arg1093Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332946G>C | CA380313816 | MYBPC3 | c.3358C>G (p.Arg1120Gly) c.3340C>G (p.Arg1114Gly) c.3277C>G (p.Arg1093Gly) | |
11 | g.47332946G= | CA1969334738 | MYBPC3 | c.3358C= (p.Arg1120=) c.3340C= (p.Arg1114=) c.3277C= (p.Arg1093=) | |
11 | g.47332946G>T | CA380313815 | MYBPC3 | c.3358C>A (p.Arg1120Ser) c.3340C>A (p.Arg1114Ser) c.3277C>A (p.Arg1093Ser) | |
11 | g.47332947G>A | CA474429075 | MYBPC3 | c.3357C>T (p.Tyr1119=) c.3339C>T (p.Tyr1113=) c.3276C>T (p.Tyr1092=) | dbSNP gnomAD v4 |
11 | g.47332947G>C | CA380313817 | MYBPC3 | c.3357C>G (p.Tyr1119Ter) c.3339C>G (p.Tyr1113Ter) c.3276C>G (p.Tyr1092Ter) | ClinVar dbSNP |
11 | g.47332947G= | CA1969334741 | MYBPC3 | c.3357C= (p.Tyr1119=) c.3339C= (p.Tyr1113=) c.3276C= (p.Tyr1092=) | |
11 | g.47332947G>T | CA380313818 | MYBPC3 | c.3357C>A (p.Tyr1119Ter) c.3339C>A (p.Tyr1113Ter) c.3276C>A (p.Tyr1092Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47332948T>A | CA380313819 | MYBPC3 | c.3356A>T (p.Tyr1119Phe) c.3338A>T (p.Tyr1113Phe) c.3275A>T (p.Tyr1092Phe) | |
11 | g.47332948T>C | CA380313820 | MYBPC3 | c.3356A>G (p.Tyr1119Cys) c.3338A>G (p.Tyr1113Cys) c.3275A>G (p.Tyr1092Cys) | ClinVar dbSNP |
11 | g.47332948T>G | CA380313821 | MYBPC3 | c.3356A>C (p.Tyr1119Ser) c.3338A>C (p.Tyr1113Ser) c.3275A>C (p.Tyr1092Ser) | dbSNP |
11 | g.47332948T= | CA1969334743 | MYBPC3 | c.3356A= (p.Tyr1119=) c.3338A= (p.Tyr1113=) c.3275A= (p.Tyr1092=) | |
11 | g.47332949A= | CA1969334744 | MYBPC3 | c.3355T= (p.Tyr1119=) c.3337T= (p.Tyr1113=) c.3274T= (p.Tyr1092=) | |
11 | g.47332949A>C | CA380313822 | MYBPC3 | c.3355T>G (p.Tyr1119Asp) c.3337T>G (p.Tyr1113Asp) c.3274T>G (p.Tyr1092Asp) | |
11 | g.47332949A>G | CA380313823 | MYBPC3 | c.3355T>C (p.Tyr1119His) c.3337T>C (p.Tyr1113His) c.3274T>C (p.Tyr1092His) | ClinVar dbSNP |
11 | g.47332949A>T | CA380313824 | MYBPC3 | c.3355T>A (p.Tyr1119Asn) c.3337T>A (p.Tyr1113Asn) c.3274T>A (p.Tyr1092Asn) | gnomAD v4 |
11 | g.47332950A>C | CA380313825 | MYBPC3 | c.3354T>G (p.His1118Gln) c.3336T>G (p.His1112Gln) c.3273T>G (p.His1091Gln) | gnomAD v4 |
11 | g.47332950A>G | CA474429079 | MYBPC3 | c.3354T>C (p.His1118=) c.3336T>C (p.His1112=) c.3273T>C (p.His1091=) | |
11 | g.47332950A>T | CA380313826 | MYBPC3 | c.3354T>A (p.His1118Gln) c.3336T>A (p.His1112Gln) c.3273T>A (p.His1091Gln) | |
11 | g.47332951T>A | CA380313828 | MYBPC3 | c.3353A>T (p.His1118Leu) c.3335A>T (p.His1112Leu) c.3272A>T (p.His1091Leu) | |
11 | g.47332951T>C | CA380313829 | MYBPC3 | c.3353A>G (p.His1118Arg) c.3335A>G (p.His1112Arg) c.3272A>G (p.His1091Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332951T>G | CA380313827 | MYBPC3 | c.3353A>C (p.His1118Pro) c.3335A>C (p.His1112Pro) c.3272A>C (p.His1091Pro) | |
11 | g.47332951T= | CA1969334747 | MYBPC3 | c.3353A= (p.His1118=) c.3335A= (p.His1112=) c.3272A= (p.His1091=) | |
11 | g.47332952G>A | CA380313830 | MYBPC3 | c.3352C>T (p.His1118Tyr) c.3334C>T (p.His1112Tyr) c.3271C>T (p.His1091Tyr) | |
11 | g.47332952G>C | CA380313831 | MYBPC3 | c.3352C>G (p.His1118Asp) c.3334C>G (p.His1112Asp) c.3271C>G (p.His1091Asp) | |
11 | g.47332952G>T | CA380313832 | MYBPC3 | c.3352C>A (p.His1118Asn) c.3334C>A (p.His1112Asn) c.3271C>A (p.His1091Asn) | |
11 | g.47332952_47332970delinsGCTCCAAGACGGTGAACCA | CA1969334748 | MYBPC3 | c.3334_3352delinsTGGTTCACCGTCTTGGAGC (p.Trp1112=) c.3316_3334delinsTGGTTCACCGTCTTGGAGC (p.Trp1106=) c.3253_3271delinsTGGTTCACCGTCTTGGAGC (p.Trp1085=) | |
11 | g.47332953C>A | CA380313833 | MYBPC3 | c.3351G>T (p.Glu1117Asp) c.3333G>T (p.Glu1111Asp) c.3270G>T (p.Glu1090Asp) | dbSNP gnomAD v2 |
11 | g.47332953C= | CA1969334750 | MYBPC3 | c.3351G= (p.Glu1117=) c.3333G= (p.Glu1111=) c.3270G= (p.Glu1090=) | |
11 | g.47332953C>G | CA380313834 | MYBPC3 | c.3351G>C (p.Glu1117Asp) c.3333G>C (p.Glu1111Asp) c.3270G>C (p.Glu1090Asp) | |
11 | g.47332953C>T | CA474429083 | MYBPC3 | c.3351G>A (p.Glu1117=) c.3333G>A (p.Glu1111=) c.3270G>A (p.Glu1090=) | |
11 | g.47332957_47332974del | CA677014411 | MYBPC3 | c.3334_3351del c.3316_3333del c.3253_3270del | dbSNP gnomAD v4 |
11 | g.47332954T>A | CA380313835 | MYBPC3 | c.3350A>T (p.Glu1117Val) c.3332A>T (p.Glu1111Val) c.3269A>T (p.Glu1090Val) | |
11 | g.47332954T>C | CA380313836 | MYBPC3 | c.3350A>G (p.Glu1117Gly) c.3332A>G (p.Glu1111Gly) c.3269A>G (p.Glu1090Gly) | |
11 | g.47332954T>G | CA380313837 | MYBPC3 | c.3350A>C (p.Glu1117Ala) c.3332A>C (p.Glu1111Ala) c.3269A>C (p.Glu1090Ala) | |
11 | g.47332955C>A | CA380313838 | MYBPC3 | c.3349G>T (p.Glu1117Ter) c.3331G>T (p.Glu1111Ter) c.3268G>T (p.Glu1090Ter) | |
11 | g.47332955C= | CA1969334751 | MYBPC3 | c.3349G= (p.Glu1117=) c.3331G= (p.Glu1111=) c.3268G= (p.Glu1090=) | |
11 | g.47332955C>G | CA380313839 | MYBPC3 | c.3349G>C (p.Glu1117Gln) c.3331G>C (p.Glu1111Gln) c.3268G>C (p.Glu1090Gln) | |
11 | g.47332955C>T | CA380313840 | MYBPC3 | c.3349G>A (p.Glu1117Lys) c.3331G>A (p.Glu1111Lys) c.3268G>A (p.Glu1090Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.47332956C>A | CA380313841 | MYBPC3 | c.3348G>T (p.Leu1116Phe) c.3330G>T (p.Leu1110Phe) c.3267G>T (p.Leu1089Phe) | |
11 | g.47332956C>G | CA380313842 | MYBPC3 | c.3348G>C (p.Leu1116Phe) c.3330G>C (p.Leu1110Phe) c.3267G>C (p.Leu1089Phe) | |
11 | g.47332956C>T | CA474429085 | MYBPC3 | c.3348G>A (p.Leu1116=) c.3330G>A (p.Leu1110=) c.3267G>A (p.Leu1089=) | gnomAD v4 |
11 | g.47332957A= | CA1969334754 | MYBPC3 | c.3347T= (p.Leu1116=) c.3329T= (p.Leu1110=) c.3266T= (p.Leu1089=) | |
11 | g.47332957A>C | CA380313844 | MYBPC3 | c.3347T>G (p.Leu1116Trp) c.3329T>G (p.Leu1110Trp) c.3266T>G (p.Leu1089Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332957A>G | CA10587724 | MYBPC3 | c.3347T>C (p.Leu1116Ser) c.3329T>C (p.Leu1110Ser) c.3266T>C (p.Leu1089Ser) | ClinVar dbSNP |
11 | g.47332957A>T | CA380313843 | MYBPC3 | c.3347T>A (p.Leu1116Ter) c.3329T>A (p.Leu1110Ter) c.3266T>A (p.Leu1089Ter) | |
11 | g.47332958A= | CA1969334756 | MYBPC3 | c.3346T= (p.Leu1116=) c.3328T= (p.Leu1110=) c.3265T= (p.Leu1089=) | |
11 | g.47332958A>C | CA079329 | MYBPC3 | c.3346T>G (p.Leu1116Val) c.3328T>G (p.Leu1110Val) c.3265T>G (p.Leu1089Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332958A>G | CA474429086 | MYBPC3 | c.3346T>C (p.Leu1116=) c.3328T>C (p.Leu1110=) c.3265T>C (p.Leu1089=) | |
11 | g.47332958A>T | CA380313845 | MYBPC3 | c.3346T>A (p.Leu1116Met) c.3328T>A (p.Leu1110Met) c.3265T>A (p.Leu1089Met) | |
11 | g.47332959G>A | CA474429087 | MYBPC3 | c.3345C>T (p.Val1115=) c.3327C>T (p.Val1109=) c.3264C>T (p.Val1088=) | |
11 | g.47332959G>C | CA474429089 | MYBPC3 | c.3345C>G (p.Val1115=) c.3327C>G (p.Val1109=) c.3264C>G (p.Val1088=) | |
11 | g.47332959G>T | CA474429088 | MYBPC3 | c.3345C>A (p.Val1115=) c.3327C>A (p.Val1109=) c.3264C>A (p.Val1088=) | |
11 | g.47332960A>C | CA380313846 | MYBPC3 | c.3344T>G (p.Val1115Gly) c.3326T>G (p.Val1109Gly) c.3263T>G (p.Val1088Gly) | |
11 | g.47332960A>G | CA380313847 | MYBPC3 | c.3344T>C (p.Val1115Ala) c.3326T>C (p.Val1109Ala) c.3263T>C (p.Val1088Ala) | |
11 | g.47332960A>T | CA380313848 | MYBPC3 | c.3344T>A (p.Val1115Asp) c.3326T>A (p.Val1109Asp) c.3263T>A (p.Val1088Asp) | gnomAD v4 |
11 | g.47332961C>A | CA380313849 | MYBPC3 | c.3343G>T (p.Val1115Phe) c.3325G>T (p.Val1109Phe) c.3262G>T (p.Val1088Phe) | |
11 | g.47332961C= | CA1969334757 | MYBPC3 | c.3343G= (p.Val1115=) c.3325G= (p.Val1109=) c.3262G= (p.Val1088=) | |
11 | g.47332961C>G | CA380313850 | MYBPC3 | c.3343G>C (p.Val1115Leu) c.3325G>C (p.Val1109Leu) c.3262G>C (p.Val1088Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332961C>T | CA5975358 | MYBPC3 | c.3343G>A (p.Val1115Ile) c.3325G>A (p.Val1109Ile) c.3262G>A (p.Val1088Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332961_47332964delinsCGGT | CA1969334759 | MYBPC3 | c.3340_3343delinsACCG (p.Thr1114=) c.3322_3325delinsACCG (p.Thr1108=) c.3259_3262delinsACCG (p.Thr1087=) | |
11 | g.47332962G>A | CA079326 | MYBPC3 | c.3342C>T (p.Thr1114=) c.3324C>T (p.Thr1108=) c.3261C>T (p.Thr1087=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332962G>C | CA474429096 | MYBPC3 | c.3342C>G (p.Thr1114=) c.3324C>G (p.Thr1108=) c.3261C>G (p.Thr1087=) | gnomAD v4 |
11 | g.47332962G= | CA1969334762 | MYBPC3 | c.3342C= (p.Thr1114=) c.3324C= (p.Thr1108=) c.3261C= (p.Thr1087=) | |
11 | g.47332962G>T | CA474429094 | MYBPC3 | c.3342C>A (p.Thr1114=) c.3324C>A (p.Thr1108=) c.3261C>A (p.Thr1087=) | gnomAD v4 |
11 | g.47332963_47332965del | CA5975359 | MYBPC3 | c.3340_3342del (p.Thr1114del) c.3322_3324del (p.Thr1108del) c.3259_3261del (p.Thr1087del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332963G>A | CA380313851 | MYBPC3 | c.3341C>T (p.Thr1114Ile) c.3323C>T (p.Thr1108Ile) c.3260C>T (p.Thr1087Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332963G>C | CA380313852 | MYBPC3 | c.3341C>G (p.Thr1114Ser) c.3323C>G (p.Thr1108Ser) c.3260C>G (p.Thr1087Ser) | |
11 | g.47332963G= | CA1969334764 | MYBPC3 | c.3341C= (p.Thr1114=) c.3323C= (p.Thr1108=) c.3260C= (p.Thr1087=) | |
11 | g.47332963G>T | CA380313853 | MYBPC3 | c.3341C>A (p.Thr1114Asn) c.3323C>A (p.Thr1108Asn) c.3260C>A (p.Thr1087Asn) | gnomAD v4 |
11 | g.47332964T>A | CA380313856 | MYBPC3 | c.3340A>T (p.Thr1114Ser) c.3322A>T (p.Thr1108Ser) c.3259A>T (p.Thr1087Ser) | gnomAD v4 |
11 | g.47332964T>C | CA380313855 | MYBPC3 | c.3340A>G (p.Thr1114Ala) c.3322A>G (p.Thr1108Ala) c.3259A>G (p.Thr1087Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.47332964T>G | CA380313854 | MYBPC3 | c.3340A>C (p.Thr1114Pro) c.3322A>C (p.Thr1108Pro) c.3259A>C (p.Thr1087Pro) | dbSNP |
11 | g.47332964T= | CA1969334765 | MYBPC3 | c.3340A= (p.Thr1114=) c.3322A= (p.Thr1108=) c.3259A= (p.Thr1087=) | |
11 | g.47332965G>A | CA053643 | MYBPC3 | c.3339C>T (p.Phe1113=) c.3321C>T (p.Phe1107=) c.3258C>T (p.Phe1086=) | ClinVar gnomAD v4 |
11 | g.47332965G>C | CA380313857 | MYBPC3 | c.3339C>G (p.Phe1113Leu) c.3321C>G (p.Phe1107Leu) c.3258C>G (p.Phe1086Leu) | |
11 | g.47332965G>T | CA380313858 | MYBPC3 | c.3339C>A (p.Phe1113Leu) c.3321C>A (p.Phe1107Leu) c.3258C>A (p.Phe1086Leu) | |
11 | g.47332966A= | CA1969334767 | MYBPC3 | c.3338T= (p.Phe1113=) c.3320T= (p.Phe1107=) c.3257T= (p.Phe1086=) | |
11 | g.47332966A>C | CA380313859 | MYBPC3 | c.3338T>G (p.Phe1113Cys) c.3320T>G (p.Phe1107Cys) c.3257T>G (p.Phe1086Cys) | |
11 | g.47332966A>G | CA380313860 | MYBPC3 | c.3338T>C (p.Phe1113Ser) c.3320T>C (p.Phe1107Ser) c.3257T>C (p.Phe1086Ser) | |
11 | g.47332966A>T | CA380313861 | MYBPC3 | c.3338T>A (p.Phe1113Tyr) c.3320T>A (p.Phe1107Tyr) c.3257T>A (p.Phe1086Tyr) | |
11 | g.47332966_47332967delinsGT | CA053620 | MYBPC3 | c.3337_3338delinsAC (p.Phe1113Thr) c.3319_3320delinsAC (p.Phe1107Thr) c.3256_3257delinsAC (p.Phe1086Thr) | |
11 | g.47332967A= | CA1969334769 | MYBPC3 | c.3337T= (p.Phe1113=) c.3319T= (p.Phe1107=) c.3256T= (p.Phe1086=) | |
11 | g.47332967A>C | CA380313862 | MYBPC3 | c.3337T>G (p.Phe1113Val) c.3319T>G (p.Phe1107Val) c.3256T>G (p.Phe1086Val) | |
11 | g.47332967A>G | CA380313863 | MYBPC3 | c.3337T>C (p.Phe1113Leu) c.3319T>C (p.Phe1107Leu) c.3256T>C (p.Phe1086Leu) | |
11 | g.47332967A>T | CA380313864 | MYBPC3 | c.3337T>A (p.Phe1113Ile) c.3319T>A (p.Phe1107Ile) c.3256T>A (p.Phe1086Ile) | dbSNP |
11 | g.47332969_47332971dup | CA296435 | MYBPC3 | c.3335_3337dup (p.Trp1112_Phe1113insTrp) c.3317_3319dup (p.Trp1106_Phe1107insTrp) c.3254_3256dup (p.Trp1085_Phe1086insTrp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332968C>A | CA380313865 | MYBPC3 | c.3336G>T (p.Trp1112Cys) c.3318G>T (p.Trp1106Cys) c.3255G>T (p.Trp1085Cys) | |
11 | g.47332968C= | CA1969334772 | MYBPC3 | c.3336G= (p.Trp1112=) c.3318G= (p.Trp1106=) c.3255G= (p.Trp1085=) | |
11 | g.47332968C>G | CA380313866 | MYBPC3 | c.3336G>C (p.Trp1112Cys) c.3318G>C (p.Trp1106Cys) c.3255G>C (p.Trp1085Cys) | |
11 | g.47332968C>T | CA380313867 | MYBPC3 | c.3336G>A (p.Trp1112Ter) c.3318G>A (p.Trp1106Ter) c.3255G>A (p.Trp1085Ter) | |
11 | g.47332969C>A | CA380313869 | MYBPC3 | c.3335G>T (p.Trp1112Leu) c.3317G>T (p.Trp1106Leu) c.3254G>T (p.Trp1085Leu) | |
11 | g.47332969C= | CA1969334774 | MYBPC3 | c.3335G= (p.Trp1112=) c.3317G= (p.Trp1106=) c.3254G= (p.Trp1085=) | |
11 | g.47332969C>G | CA380313868 | MYBPC3 | c.3335G>C (p.Trp1112Ser) c.3317G>C (p.Trp1106Ser) c.3254G>C (p.Trp1085Ser) | |
11 | g.47332969C>T | CA014002 | MYBPC3 | c.3335G>A (p.Trp1112Ter) c.3317G>A (p.Trp1106Ter) c.3254G>A (p.Trp1085Ter) | ClinVar dbSNP |
11 | g.47332970_47332973dup | CA273443 | MYBPC3 | c.3332_3335dup (p.Trp1112Ter) c.3314_3317dup (p.Trp1106Ter) c.3251_3254dup (p.Trp1085Ter) | ClinVar dbSNP |
11 | g.47332970A>C | CA380313870 | MYBPC3 | c.3334T>G (p.Trp1112Gly) c.3316T>G (p.Trp1106Gly) c.3253T>G (p.Trp1085Gly) | |
11 | g.47332970A>G | CA380313871 | MYBPC3 | c.3334T>C (p.Trp1112Arg) c.3316T>C (p.Trp1106Arg) c.3253T>C (p.Trp1085Arg) | gnomAD v4 |
11 | g.47332970A>T | CA380313872 | MYBPC3 | c.3334T>A (p.Trp1112Arg) c.3316T>A (p.Trp1106Arg) c.3253T>A (p.Trp1085Arg) | gnomAD v4 |
11 | g.47332970dup | CA2695213921 | MYBPC3 | c.3334dup (p.Trp1112LeufsTer?) c.3316dup (p.Trp1106LeufsTer?) c.3253dup (p.Trp1085LeufsTer?) | |
11 | g.47332971C>A | CA221682324 | MYBPC3 | c.3333G>T (p.Glu1111Asp) c.3315G>T (p.Glu1105Asp) c.3252G>T (p.Glu1084Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332971C= | CA1969334777 | MYBPC3 | c.3333G= (p.Glu1111=) c.3315G= (p.Glu1105=) c.3252G= (p.Glu1084=) | |
11 | g.47332971C>G | CA380313873 | MYBPC3 | c.3333G>C (p.Glu1111Asp) c.3315G>C (p.Glu1105Asp) c.3252G>C (p.Glu1084Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332971C>T | CA474429104 | MYBPC3 | c.3333G>A (p.Glu1111=) c.3315G>A (p.Glu1105=) c.3252G>A (p.Glu1084=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332971_47332972insCACT | CA2739291465 | MYBPC3 | c.3332_3333insAGTG (p.Trp1112ValfsTer?) c.3314_3315insAGTG (p.Trp1106ValfsTer?) c.3251_3252insAGTG (p.Trp1085ValfsTer?) | |
11 | g.47332972T>A | CA380313874 | MYBPC3 | c.3332A>T (p.Glu1111Val) c.3314A>T (p.Glu1105Val) c.3251A>T (p.Glu1084Val) | |
11 | g.47332972T>C | CA380313875 | MYBPC3 | c.3332A>G (p.Glu1111Gly) c.3314A>G (p.Glu1105Gly) c.3251A>G (p.Glu1084Gly) | ClinVar dbSNP |
11 | g.47332972T>G | CA380313876 | MYBPC3 | c.3332A>C (p.Glu1111Ala) c.3314A>C (p.Glu1105Ala) c.3251A>C (p.Glu1084Ala) | |
11 | g.47332973C>A | CA380313877 | MYBPC3 | c.3331G>T (p.Glu1111Ter) c.3313G>T (p.Glu1105Ter) c.3250G>T (p.Glu1084Ter) | |
11 | g.47332973C= | CA1969334779 | MYBPC3 | c.3331G= (p.Glu1111=) c.3313G= (p.Glu1105=) c.3250G= (p.Glu1084=) | |
11 | g.47332973C>G | CA380313878 | MYBPC3 | c.3331G>C (p.Glu1111Gln) c.3313G>C (p.Glu1105Gln) c.3250G>C (p.Glu1084Gln) | |
11 | g.47332973C>T | CA380313879 | MYBPC3 | c.3331G>A (p.Glu1111Lys) c.3313G>A (p.Glu1105Lys) c.3250G>A (p.Glu1084Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332974C>A | CA380313880 | MYBPC3 | c.3331-1G>T (n.3331-1G>T) c.3313-1G>T (n.3313-1G>T) c.3250-1G>T (n.3250-1G>T) | |
11 | g.47332974C= | CA1969334785 | MYBPC3 | c.3331-1G= (n.3331-1G=) c.3313-1G= (n.3313-1G=) c.3250-1G= (n.3250-1G=) | |
11 | g.47332974C>G | CA380313881 | MYBPC3 | c.3331-1G>C (n.3331-1G>C) c.3313-1G>C (n.3313-1G>C) c.3250-1G>C (n.3250-1G>C) | ClinVar dbSNP |
11 | g.47332974C>T | CA013982 | MYBPC3 | c.3331-1G>A (n.3331-1G>A) c.3313-1G>A (n.3313-1G>A) c.3250-1G>A (n.3250-1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47332974_47332975insATGGTCTTCTTGTCGGCTTTCTGCACTGTGTACCCCCAGAGTTCCGTGT | CA599374108 | MYBPC3 | c.3331-2_3331-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT (n.3331-2_3331-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT) c.3313-2_3313-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT (n.3313-2_3313-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT) c.3250-2_3250-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT (n.3250-2_3250-1insACACGGAACTCTGGGGGTACACAGTGCAGAAAGCCGACAAGAAGACCAT) | dbSNP gnomAD v2 |
11 | g.47332975T>A | CA380313882 | MYBPC3 | c.3331-2A>T (n.3331-2A>T) c.3313-2A>T (n.3313-2A>T) c.3250-2A>T (n.3250-2A>T) | |
11 | g.47332975T>C | CA380313883 | MYBPC3 | c.3331-2A>G (n.3331-2A>G) c.3313-2A>G (n.3313-2A>G) c.3250-2A>G (n.3250-2A>G) | ClinVar |
11 | g.47332975T>G | CA352005 | MYBPC3 | c.3331-2A>C (n.3331-2A>C) c.3313-2A>C (n.3313-2A>C) c.3250-2A>C (n.3250-2A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332975T= | CA1969334792 | MYBPC3 | c.3331-2A= (n.3331-2A=) c.3313-2A= (n.3313-2A=) c.3250-2A= (n.3250-2A=) | |
11 | g.47332976G>A | CA2697548536 | MYBPC3 | c.3331-3C>T (n.3331-3C>T) c.3313-3C>T (n.3313-3C>T) c.3250-3C>T (n.3250-3C>T) | ClinVar dbSNP |
11 | g.47332976G>T | CA2573053504 | MYBPC3 | c.3331-3C>A (n.3331-3C>A) c.3313-3C>A (n.3313-3C>A) c.3250-3C>A (n.3250-3C>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47332977G>A | CA2613392824 | MYBPC3 | c.3331-4C>T (n.3331-4C>T) c.3313-4C>T (n.3313-4C>T) c.3250-4C>T (n.3250-4C>T) | ClinVar gnomAD v4 |
11 | g.47332978G>A | CA937665815 | MYBPC3 | c.3331-5C>T (n.3331-5C>T) c.3313-5C>T (n.3313-5C>T) c.3250-5C>T (n.3250-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332978G>C | CA599374109 | MYBPC3 | c.3331-5C>G (n.3331-5C>G) c.3313-5C>G (n.3313-5C>G) c.3250-5C>G (n.3250-5C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332978G= | CA1969334795 | MYBPC3 | c.3331-5C= (n.3331-5C=) c.3313-5C= (n.3313-5C=) c.3250-5C= (n.3250-5C=) | |
11 | g.47332979G>T | CA2613392830 | MYBPC3 | c.3331-6C>A (n.3331-6C>A) c.3313-6C>A (n.3313-6C>A) c.3250-6C>A (n.3250-6C>A) | gnomAD v4 |
11 | g.47332980G>A | CA2613392831 | MYBPC3 | c.3331-7C>T (n.3331-7C>T) c.3313-7C>T (n.3313-7C>T) c.3250-7C>T (n.3250-7C>T) | gnomAD v4 |
11 | g.47332980G>C | CA916081635 | MYBPC3 | c.3331-7C>G (n.3331-7C>G) c.3313-7C>G (n.3313-7C>G) c.3250-7C>G (n.3250-7C>G) | ClinVar dbSNP |
11 | g.47332980G= | CA1969334798 | MYBPC3 | c.3331-7C= (n.3331-7C=) c.3313-7C= (n.3313-7C=) c.3250-7C= (n.3250-7C=) | |
11 | g.47332980G>T | CA2613392832 | MYBPC3 | c.3331-7C>A (n.3331-7C>A) c.3313-7C>A (n.3313-7C>A) c.3250-7C>A (n.3250-7C>A) | gnomAD v4 |
11 | g.47332981C>A | CA079318 | MYBPC3 | c.3331-8G>T (n.3331-8G>T) c.3313-8G>T (n.3313-8G>T) c.3250-8G>T (n.3250-8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332981C= | CA1969334802 | MYBPC3 | c.3331-8G= (n.3331-8G=) c.3313-8G= (n.3313-8G=) c.3250-8G= (n.3250-8G=) | |
11 | g.47332981C>T | CA2613392834 | MYBPC3 | c.3331-8G>A (n.3331-8G>A) c.3313-8G>A (n.3313-8G>A) c.3250-8G>A (n.3250-8G>A) | gnomAD v4 |
11 | g.47332982A= | CA1969334806 | MYBPC3 | c.3331-9T= (n.3331-9T=) c.3313-9T= (n.3313-9T=) c.3250-9T= (n.3250-9T=) | |
11 | g.47332982A>C | CA079320 | MYBPC3 | c.3331-9T>G (n.3331-9T>G) c.3313-9T>G (n.3313-9T>G) c.3250-9T>G (n.3250-9T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332982A>G | CA2613392843 | MYBPC3 | c.3331-9T>C (n.3331-9T>C) c.3313-9T>C (n.3313-9T>C) c.3250-9T>C (n.3250-9T>C) | gnomAD v4 |
11 | g.47332982A>T | CA1969334807 | MYBPC3 | c.3331-9T>A (n.3331-9T>A) c.3313-9T>A (n.3313-9T>A) c.3250-9T>A (n.3250-9T>A) | dbSNP gnomAD v4 |
11 | g.47332982_47332991delinsAGGGAGGGAG | CA1969334809 | MYBPC3 | c.3331-18_3331-9delinsCTCCCTCCCT (n.3331-18_3331-9delinsCTCCCTCCCT) c.3313-18_3313-9delinsCTCCCTCCCT (n.3313-18_3313-9delinsCTCCCTCCCT) c.3250-18_3250-9delinsCTCCCTCCCT (n.3250-18_3250-9delinsCTCCCTCCCT) | |
11 | g.47332990_47332993del | CA2574815737 | MYBPC3 | c.3331-12_3331-9del (n.3331-12_3331-9del) c.3313-12_3313-9del (n.3313-12_3313-9del) c.3250-12_3250-9del (n.3250-12_3250-9del) | gnomAD v4 |
11 | g.47332983G>C | CA079310 | MYBPC3 | c.3331-10C>G (n.3331-10C>G) c.3313-10C>G (n.3313-10C>G) c.3250-10C>G (n.3250-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332983G= | CA1969334812 | MYBPC3 | c.3331-10C= (n.3331-10C=) c.3313-10C= (n.3313-10C=) c.3250-10C= (n.3250-10C=) | |
11 | g.47332983G>T | CA2613392849 | MYBPC3 | c.3331-10C>A (n.3331-10C>A) c.3313-10C>A (n.3313-10C>A) c.3250-10C>A (n.3250-10C>A) | gnomAD v4 |
11 | g.47332989_47332997del | CA918872525 | MYBPC3 | c.3331-18_3331-10del (n.3331-18_3331-10del) c.3313-18_3313-10del (n.3313-18_3313-10del) c.3250-18_3250-10del (n.3250-18_3250-10del) | dbSNP gnomAD v4 |
11 | g.47332984G>A | CA599374110 | MYBPC3 | c.3331-11C>T (n.3331-11C>T) c.3313-11C>T (n.3313-11C>T) c.3250-11C>T (n.3250-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332984G= | CA1969334816 | MYBPC3 | c.3331-11C= (n.3331-11C=) c.3313-11C= (n.3313-11C=) c.3250-11C= (n.3250-11C=) | |
11 | g.47332984G>T | CA2613392851 | MYBPC3 | c.3331-11C>A (n.3331-11C>A) c.3313-11C>A (n.3313-11C>A) c.3250-11C>A (n.3250-11C>A) | gnomAD v4 |
11 | g.47332985G>A | CA079312 | MYBPC3 | c.3331-12C>T (n.3331-12C>T) c.3313-12C>T (n.3313-12C>T) c.3250-12C>T (n.3250-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332985G= | CA1969334818 | MYBPC3 | c.3331-12C= (n.3331-12C=) c.3313-12C= (n.3313-12C=) c.3250-12C= (n.3250-12C=) | |
11 | g.47332985G>T | CA2613392853 | MYBPC3 | c.3331-12C>A (n.3331-12C>A) c.3313-12C>A (n.3313-12C>A) c.3250-12C>A (n.3250-12C>A) | gnomAD v4 |
11 | g.47332986A= | CA1969334822 | MYBPC3 | c.3331-13T= (n.3331-13T=) c.3313-13T= (n.3313-13T=) c.3250-13T= (n.3250-13T=) | |
11 | g.47332986A>C | CA2613392855 | MYBPC3 | c.3331-13T>G (n.3331-13T>G) c.3313-13T>G (n.3313-13T>G) c.3250-13T>G (n.3250-13T>G) | gnomAD v4 |
11 | g.47332986A>G | CA654413160 | MYBPC3 | c.3331-13T>C (n.3331-13T>C) c.3313-13T>C (n.3313-13T>C) c.3250-13T>C (n.3250-13T>C) | gnomAD v4 COSMIC |
11 | g.47332986A>T | CA1969334823 | MYBPC3 | c.3331-13T>A (n.3331-13T>A) c.3313-13T>A (n.3313-13T>A) c.3250-13T>A (n.3250-13T>A) | dbSNP gnomAD v4 |
11 | g.47332987G>T | CA2513606518 | MYBPC3 | c.3331-14C>A (n.3331-14C>A) c.3313-14C>A (n.3313-14C>A) c.3250-14C>A (n.3250-14C>A) | gnomAD v4 |
11 | g.47332988G>C | CA2697548537 | MYBPC3 | c.3331-15C>G (n.3331-15C>G) c.3313-15C>G (n.3313-15C>G) c.3250-15C>G (n.3250-15C>G) | ClinVar |
11 | g.47332989G>A | CA2613392861 | MYBPC3 | c.3331-16C>T (n.3331-16C>T) c.3313-16C>T (n.3313-16C>T) c.3250-16C>T (n.3250-16C>T) | gnomAD v4 |
11 | g.47332989G>C | CA1969334826 | MYBPC3 | c.3331-16C>G (n.3331-16C>G) c.3313-16C>G (n.3313-16C>G) c.3250-16C>G (n.3250-16C>G) | dbSNP |
11 | g.47332989G= | CA1969334825 | MYBPC3 | c.3331-16C= (n.3331-16C=) c.3313-16C= (n.3313-16C=) c.3250-16C= (n.3250-16C=) | |
11 | g.47332989G>T | CA2613392860 | MYBPC3 | c.3331-16C>A (n.3331-16C>A) c.3313-16C>A (n.3313-16C>A) c.3250-16C>A (n.3250-16C>A) | gnomAD v4 |
11 | g.47332990A>C | CA2613392863 | MYBPC3 | c.3331-17T>G (n.3331-17T>G) c.3313-17T>G (n.3313-17T>G) c.3250-17T>G (n.3250-17T>G) | gnomAD v4 |
11 | g.47332990A>G | CA2574815738 | MYBPC3 | c.3331-17T>C (n.3331-17T>C) c.3313-17T>C (n.3313-17T>C) c.3250-17T>C (n.3250-17T>C) | gnomAD v4 |
11 | g.47332990A>T | CA2574815739 | MYBPC3 | c.3331-17T>A (n.3331-17T>A) c.3313-17T>A (n.3313-17T>A) c.3250-17T>A (n.3250-17T>A) | gnomAD v4 |
11 | g.47332991G>A | CA2613392865 | MYBPC3 | c.3331-18C>T (n.3331-18C>T) c.3313-18C>T (n.3313-18C>T) c.3250-18C>T (n.3250-18C>T) | gnomAD v4 |
11 | g.47332991G>C | CA599374111 | MYBPC3 | c.3331-18C>G (n.3331-18C>G) c.3313-18C>G (n.3313-18C>G) c.3250-18C>G (n.3250-18C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332991G= | CA1969334828 | MYBPC3 | c.3331-18C= (n.3331-18C=) c.3313-18C= (n.3313-18C=) c.3250-18C= (n.3250-18C=) | |
11 | g.47332991G>T | CA2506337086 | MYBPC3 | c.3331-18C>A (n.3331-18C>A) c.3313-18C>A (n.3313-18C>A) c.3250-18C>A (n.3250-18C>A) | gnomAD v4 |
11 | g.47332992G>T | CA2613392866 | MYBPC3 | c.3331-19C>A (n.3331-19C>A) c.3313-19C>A (n.3313-19C>A) c.3250-19C>A (n.3250-19C>A) | gnomAD v4 |
11 | g.47332993G>A | CA599374112 | MYBPC3 | c.3331-20C>T (n.3331-20C>T) c.3313-20C>T (n.3313-20C>T) c.3250-20C>T (n.3250-20C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332993G= | CA1969334830 | MYBPC3 | c.3331-20C= (n.3331-20C=) c.3313-20C= (n.3313-20C=) c.3250-20C= (n.3250-20C=) | |
11 | g.47332993G>T | CA2613392867 | MYBPC3 | c.3331-20C>A (n.3331-20C>A) c.3313-20C>A (n.3313-20C>A) c.3250-20C>A (n.3250-20C>A) | gnomAD v4 |
11 | g.47332994G>C | CA2613392869 | MYBPC3 | c.3331-21C>G (n.3331-21C>G) c.3313-21C>G (n.3313-21C>G) c.3250-21C>G (n.3250-21C>G) | gnomAD v4 |
11 | g.47332994G>T | CA2613392870 | MYBPC3 | c.3331-21C>A (n.3331-21C>A) c.3313-21C>A (n.3313-21C>A) c.3250-21C>A (n.3250-21C>A) | gnomAD v4 |
11 | g.47332996G>A | CA599374113 | MYBPC3 | c.3331-23C>T (n.3331-23C>T) c.3313-23C>T (n.3313-23C>T) c.3250-23C>T (n.3250-23C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332996G= | CA1969334832 | MYBPC3 | c.3331-23C= (n.3331-23C=) c.3313-23C= (n.3313-23C=) c.3250-23C= (n.3250-23C=) | |
11 | g.47332996G>T | CA2613392872 | MYBPC3 | c.3331-23C>A (n.3331-23C>A) c.3313-23C>A (n.3313-23C>A) c.3250-23C>A (n.3250-23C>A) | gnomAD v4 |
11 | g.47332997G>A | CA599374114 | MYBPC3 | c.3331-24C>T (n.3331-24C>T) c.3313-24C>T (n.3313-24C>T) c.3250-24C>T (n.3250-24C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332997G= | CA1969334834 | MYBPC3 | c.3331-24C= (n.3331-24C=) c.3313-24C= (n.3313-24C=) c.3250-24C= (n.3250-24C=) | |
11 | g.47332998C>T | CA2613392878 | MYBPC3 | c.3331-25G>A (n.3331-25G>A) c.3313-25G>A (n.3313-25G>A) c.3250-25G>A (n.3250-25G>A) | gnomAD v4 |
11 | g.47332999A>C | CA2573146361 | MYBPC3 | c.3331-26T>G (n.3331-26T>G) c.3313-26T>G (n.3313-26T>G) c.3250-26T>G (n.3250-26T>G) | ClinVar dbSNP gnomAD v4 |