Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332207A= | CA1969333493 | MYBPC3 | c.3679T= (p.Phe1227=) c.3661T= (p.Phe1221=) c.3598T= (p.Phe1200=) | |
11 | g.47332207A>C | CA380311510 | MYBPC3 | c.3679T>G (p.Phe1227Val) c.3661T>G (p.Phe1221Val) c.3598T>G (p.Phe1200Val) | |
11 | g.47332207A>G | CA380311513 | MYBPC3 | c.3679T>C (p.Phe1227Leu) c.3661T>C (p.Phe1221Leu) c.3598T>C (p.Phe1200Leu) | gnomAD v4 |
11 | g.47332207A>T | CA014601 | MYBPC3 | c.3679T>A (p.Phe1227Ile) c.3661T>A (p.Phe1221Ile) c.3598T>A (p.Phe1200Ile) | ClinVar dbSNP |
11 | g.47332208G>A | CA474428885 | MYBPC3 | c.3678C>T (p.Arg1226=) c.3660C>T (p.Arg1220=) c.3597C>T (p.Arg1199=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332208G>C | CA474428886 | MYBPC3 | c.3678C>G (p.Arg1226=) c.3660C>G (p.Arg1220=) c.3597C>G (p.Arg1199=) | |
11 | g.47332208G= | CA1969333494 | MYBPC3 | c.3678C= (p.Arg1226=) c.3660C= (p.Arg1220=) c.3597C= (p.Arg1199=) | |
11 | g.47332208G>T | CA474428887 | MYBPC3 | c.3678C>A (p.Arg1226=) c.3660C>A (p.Arg1220=) c.3597C>A (p.Arg1199=) | |
11 | g.47332209C>A | CA014596 | MYBPC3 | c.3677G>T (p.Arg1226Leu) c.3659G>T (p.Arg1220Leu) c.3596G>T (p.Arg1199Leu) | ClinVar dbSNP |
11 | g.47332209C= | CA1969333497 | MYBPC3 | c.3677G= (p.Arg1226=) c.3659G= (p.Arg1220=) c.3596G= (p.Arg1199=) | |
11 | g.47332209C>G | CA380311524 | MYBPC3 | c.3677G>C (p.Arg1226Pro) c.3659G>C (p.Arg1220Pro) c.3596G>C (p.Arg1199Pro) | |
11 | g.47332209C>T | CA221681842 | MYBPC3 | c.3677G>A (p.Arg1226His) c.3659G>A (p.Arg1220His) c.3596G>A (p.Arg1199His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332209dup | CA2580084178 | MYBPC3 | c.3677dup (p.Phe1227LeufsTer15) c.3659dup (p.Phe1221LeufsTer15) c.3596dup (p.Phe1200LeufsTer15) | ClinVar |
11 | g.47332210G>A | CA014587 | MYBPC3 | c.3676C>T (p.Arg1226Cys) c.3658C>T (p.Arg1220Cys) c.3595C>T (p.Arg1199Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332210G>C | CA380311533 | MYBPC3 | c.3676C>G (p.Arg1226Gly) c.3658C>G (p.Arg1220Gly) c.3595C>G (p.Arg1199Gly) | gnomAD v4 |
11 | g.47332210G= | CA1969333500 | MYBPC3 | c.3676C= (p.Arg1226=) c.3658C= (p.Arg1220=) c.3595C= (p.Arg1199=) | |
11 | g.47332210G>T | CA380311536 | MYBPC3 | c.3676C>A (p.Arg1226Ser) c.3658C>A (p.Arg1220Ser) c.3595C>A (p.Arg1199Ser) | |
11 | g.47332211G>A | CA474428889 | MYBPC3 | c.3675C>T (p.Ala1225=) c.3657C>T (p.Ala1219=) c.3594C>T (p.Ala1198=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332211G>C | CA474428891 | MYBPC3 | c.3675C>G (p.Ala1225=) c.3657C>G (p.Ala1219=) c.3594C>G (p.Ala1198=) | gnomAD v4 |
11 | g.47332211G= | CA1969333503 | MYBPC3 | c.3675C= (p.Ala1225=) c.3657C= (p.Ala1219=) c.3594C= (p.Ala1198=) | |
11 | g.47332211G>T | CA474428890 | MYBPC3 | c.3675C>A (p.Ala1225=) c.3657C>A (p.Ala1219=) c.3594C>A (p.Ala1198=) | |
11 | g.47332212G>A | CA380311540 | MYBPC3 | c.3674C>T (p.Ala1225Val) c.3656C>T (p.Ala1219Val) c.3593C>T (p.Ala1198Val) | gnomAD v4 |
11 | g.47332212G>C | CA380311545 | MYBPC3 | c.3674C>G (p.Ala1225Gly) c.3656C>G (p.Ala1219Gly) c.3593C>G (p.Ala1198Gly) | |
11 | g.47332212G>T | CA380311560 | MYBPC3 | c.3674C>A (p.Ala1225Asp) c.3656C>A (p.Ala1219Asp) c.3593C>A (p.Ala1198Asp) | |
11 | g.47332213C>A | CA380311563 | MYBPC3 | c.3673G>T (p.Ala1225Ser) c.3655G>T (p.Ala1219Ser) c.3592G>T (p.Ala1198Ser) | COSMIC |
11 | g.47332213C= | CA1969333505 | MYBPC3 | c.3673G= (p.Ala1225=) c.3655G= (p.Ala1219=) c.3592G= (p.Ala1198=) | |
11 | g.47332213C>G | CA380311564 | MYBPC3 | c.3673G>C (p.Ala1225Pro) c.3655G>C (p.Ala1219Pro) c.3592G>C (p.Ala1198Pro) | |
11 | g.47332213C>T | CA380311567 | MYBPC3 | c.3673G>A (p.Ala1225Thr) c.3655G>A (p.Ala1219Thr) c.3592G>A (p.Ala1198Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332214G>A | CA014577 | MYBPC3 | c.3672C>T (p.Asp1224=) c.3654C>T (p.Asp1218=) c.3591C>T (p.Asp1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332214G>C | CA380311571 | MYBPC3 | c.3672C>G (p.Asp1224Glu) c.3654C>G (p.Asp1218Glu) c.3591C>G (p.Asp1197Glu) | |
11 | g.47332214G= | CA1969333507 | MYBPC3 | c.3672C= (p.Asp1224=) c.3654C= (p.Asp1218=) c.3591C= (p.Asp1197=) | |
11 | g.47332214G>T | CA380311573 | MYBPC3 | c.3672C>A (p.Asp1224Glu) c.3654C>A (p.Asp1218Glu) c.3591C>A (p.Asp1197Glu) | |
11 | g.47332215T>A | CA380311587 | MYBPC3 | c.3671A>T (p.Asp1224Val) c.3653A>T (p.Asp1218Val) c.3590A>T (p.Asp1197Val) | |
11 | g.47332215T>C | CA380311580 | MYBPC3 | c.3671A>G (p.Asp1224Gly) c.3653A>G (p.Asp1218Gly) c.3590A>G (p.Asp1197Gly) | |
11 | g.47332215T>G | CA380311584 | MYBPC3 | c.3671A>C (p.Asp1224Ala) c.3653A>C (p.Asp1218Ala) c.3590A>C (p.Asp1197Ala) | |
11 | g.47332218_47332220del | CA2613355859 | MYBPC3 | c.3669_3671del (p.Glu1223del) c.3651_3653del (p.Glu1217del) c.3588_3590del (p.Glu1196del) | gnomAD v4 |
11 | g.47332216C>A | CA380311591 | MYBPC3 | c.3670G>T (p.Asp1224Tyr) c.3652G>T (p.Asp1218Tyr) c.3589G>T (p.Asp1197Tyr) | |
11 | g.47332216C= | CA1969333509 | MYBPC3 | c.3670G= (p.Asp1224=) c.3652G= (p.Asp1218=) c.3589G= (p.Asp1197=) | |
11 | g.47332216C>G | CA380311599 | MYBPC3 | c.3670G>C (p.Asp1224His) c.3652G>C (p.Asp1218His) c.3589G>C (p.Asp1197His) | dbSNP gnomAD v2 |
11 | g.47332216C>T | CA079499 | MYBPC3 | c.3670G>A (p.Asp1224Asn) c.3652G>A (p.Asp1218Asn) c.3589G>A (p.Asp1197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332217T>A | CA380311604 | MYBPC3 | c.3669A>T (p.Glu1223Asp) c.3651A>T (p.Glu1217Asp) c.3588A>T (p.Glu1196Asp) | ClinVar dbSNP |
11 | g.47332217T>C | CA474428901 | MYBPC3 | c.3669A>G (p.Glu1223=) c.3651A>G (p.Glu1217=) c.3588A>G (p.Glu1196=) | |
11 | g.47332217T>G | CA380311606 | MYBPC3 | c.3669A>C (p.Glu1223Asp) c.3651A>C (p.Glu1217Asp) c.3588A>C (p.Glu1196Asp) | |
11 | g.47332217T= | CA1969333513 | MYBPC3 | c.3669A= (p.Glu1223=) c.3651A= (p.Glu1217=) c.3588A= (p.Glu1196=) | |
11 | g.47332217_47332219delinsTTC | CA1969333512 | MYBPC3 | c.3667_3669delinsGAA (p.Glu1223=) c.3649_3651delinsGAA (p.Glu1217=) c.3586_3588delinsGAA (p.Glu1196=) | |
11 | g.47332218T>A | CA380311612 | MYBPC3 | c.3668A>T (p.Glu1223Val) c.3650A>T (p.Glu1217Val) c.3587A>T (p.Glu1196Val) | |
11 | g.47332218T>C | CA079496 | MYBPC3 | c.3668A>G (p.Glu1223Gly) c.3650A>G (p.Glu1217Gly) c.3587A>G (p.Glu1196Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332218T>G | CA380311619 | MYBPC3 | c.3668A>C (p.Glu1223Ala) c.3650A>C (p.Glu1217Ala) c.3587A>C (p.Glu1196Ala) | |
11 | g.47332218T= | CA1969333517 | MYBPC3 | c.3668A= (p.Glu1223=) c.3650A= (p.Glu1217=) c.3587A= (p.Glu1196=) | |
11 | g.47332220_47332221del | CA658820693 | MYBPC3 | c.3667_3668del (p.Glu1223ArgfsTer18) c.3649_3650del (p.Glu1217ArgfsTer18) c.3586_3587del (p.Glu1196ArgfsTer18) | ClinVar dbSNP |
11 | g.47332219C>A | CA380311628 | MYBPC3 | c.3667G>T (p.Glu1223Ter) c.3649G>T (p.Glu1217Ter) c.3586G>T (p.Glu1196Ter) | |
11 | g.47332219C= | CA1969333519 | MYBPC3 | c.3667G= (p.Glu1223=) c.3649G= (p.Glu1217=) c.3586G= (p.Glu1196=) | |
11 | g.47332219C>G | CA380311633 | MYBPC3 | c.3667G>C (p.Glu1223Gln) c.3649G>C (p.Glu1217Gln) c.3586G>C (p.Glu1196Gln) | |
11 | g.47332219C>T | CA054671 | MYBPC3 | c.3667G>A (p.Glu1223Lys) c.3649G>A (p.Glu1217Lys) c.3586G>A (p.Glu1196Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47332220T>A | CA474428906 | MYBPC3 | c.3666A>T (p.Gly1222=) c.3648A>T (p.Gly1216=) c.3585A>T (p.Gly1195=) | |
11 | g.47332220T>C | CA474428907 | MYBPC3 | c.3666A>G (p.Gly1222=) c.3648A>G (p.Gly1216=) c.3585A>G (p.Gly1195=) | |
11 | g.47332220T>G | CA474428905 | MYBPC3 | c.3666A>C (p.Gly1222=) c.3648A>C (p.Gly1216=) c.3585A>C (p.Gly1195=) | |
11 | g.47332220_47332221delinsTC | CA1969333520 | MYBPC3 | c.3665_3666delinsGA (p.Gly1222=) c.3647_3648delinsGA (p.Gly1216=) c.3584_3585delinsGA (p.Gly1195=) | |
11 | g.47332221C>A | CA380311668 | MYBPC3 | c.3665G>T (p.Gly1222Val) c.3647G>T (p.Gly1216Val) c.3584G>T (p.Gly1195Val) | |
11 | g.47332221C>G | CA380311664 | MYBPC3 | c.3665G>C (p.Gly1222Ala) c.3647G>C (p.Gly1216Ala) c.3584G>C (p.Gly1195Ala) | |
11 | g.47332221C>T | CA380311640 | MYBPC3 | c.3665G>A (p.Gly1222Glu) c.3647G>A (p.Gly1216Glu) c.3584G>A (p.Gly1195Glu) | COSMIC COSMIC |
11 | g.47332223del | CA16613340 | MYBPC3 | c.3665del (p.Gly1222GlufsTer15) c.3647del (p.Gly1216GlufsTer15) c.3584del (p.Gly1195GlufsTer15) | ClinVar dbSNP |
11 | g.47332222C>A | CA014571 | MYBPC3 | c.3664G>T (p.Gly1222Ter) c.3646G>T (p.Gly1216Ter) c.3583G>T (p.Gly1195Ter) | ClinVar dbSNP |
11 | g.47332222C= | CA1969333523 | MYBPC3 | c.3664G= (p.Gly1222=) c.3646G= (p.Gly1216=) c.3583G= (p.Gly1195=) | |
11 | g.47332222C>G | CA380311679 | MYBPC3 | c.3664G>C (p.Gly1222Arg) c.3646G>C (p.Gly1216Arg) c.3583G>C (p.Gly1195Arg) | |
11 | g.47332222C>T | CA054649 | MYBPC3 | c.3664G>A (p.Gly1222Arg) c.3646G>A (p.Gly1216Arg) c.3583G>A (p.Gly1195Arg) | |
11 | g.47332223C>A | CA474428910 | MYBPC3 | c.3663G>T (p.Leu1221=) c.3645G>T (p.Leu1215=) c.3582G>T (p.Leu1194=) | |
11 | g.47332223C= | CA1969333526 | MYBPC3 | c.3663G= (p.Leu1221=) c.3645G= (p.Leu1215=) c.3582G= (p.Leu1194=) | |
11 | g.47332223C>G | CA474428908 | MYBPC3 | c.3663G>C (p.Leu1221=) c.3645G>C (p.Leu1215=) c.3582G>C (p.Leu1194=) | |
11 | g.47332223C>T | CA474428909 | MYBPC3 | c.3663G>A (p.Leu1221=) c.3645G>A (p.Leu1215=) c.3582G>A (p.Leu1194=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332223_47332224delinsCA | CA1969333530 | MYBPC3 | c.3662_3663delinsTG (p.Leu1221=) c.3644_3645delinsTG (p.Leu1215=) c.3581_3582delinsTG (p.Leu1194=) | |
11 | g.47332223_47332227delinsCAGGT | CA1969333529 | MYBPC3 | c.3659_3663delinsACCTG (p.Asp1220=) c.3641_3645delinsACCTG (p.Asp1214=) c.3578_3582delinsACCTG (p.Asp1193=) | |
11 | g.47332223_47332243delinsCAGGTCCAGGCCATTCTTGAA | CA1969333527 | MYBPC3 | c.3643_3663delinsTTCAAGAATGGCCTGGACCTG (p.Phe1215=) c.3625_3645delinsTTCAAGAATGGCCTGGACCTG (p.Phe1209=) c.3562_3582delinsTTCAAGAATGGCCTGGACCTG (p.Phe1188=) | |
11 | g.47332224del | CA279321 | MYBPC3 | c.3662del (p.Leu1221ArgfsTer16) c.3644del (p.Leu1215ArgfsTer16) c.3581del (p.Leu1194ArgfsTer16) | ClinVar dbSNP |
11 | g.47332224A= | CA1969333535 | MYBPC3 | c.3662T= (p.Leu1221=) c.3644T= (p.Leu1215=) c.3581T= (p.Leu1194=) | |
11 | g.47332224A>C | CA380311698 | MYBPC3 | c.3662T>G (p.Leu1221Arg) c.3644T>G (p.Leu1215Arg) c.3581T>G (p.Leu1194Arg) | |
11 | g.47332224A>G | CA380311701 | MYBPC3 | c.3662T>C (p.Leu1221Pro) c.3644T>C (p.Leu1215Pro) c.3581T>C (p.Leu1194Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47332224A>T | CA380311704 | MYBPC3 | c.3662T>A (p.Leu1221Gln) c.3644T>A (p.Leu1215Gln) c.3581T>A (p.Leu1194Gln) | |
11 | g.47332224_47332227del | CA2695213903 | MYBPC3 | c.3659_3662del (p.Asp1220GlyfsTer16) c.3641_3644del (p.Asp1214GlyfsTer16) c.3578_3581del (p.Asp1193GlyfsTer16) | |
11 | g.47332224_47332227delinsGCCATTCTTGAA | CA10602350 | MYBPC3 | c.3659_3662delinsTTCAAGAATGGC (p.Asp1220ValfsTer20) c.3641_3644delinsTTCAAGAATGGC (p.Asp1214ValfsTer20) c.3578_3581delinsTTCAAGAATGGC (p.Asp1193ValfsTer20) | ClinVar dbSNP |
11 | g.47332224_47332243delinsCAAGAATGGC | CA918872511 | MYBPC3 | c.3643_3662delinsGCCATTCTTG (p.Phe1215AlafsTer19) c.3625_3644delinsGCCATTCTTG (p.Phe1209AlafsTer19) c.3562_3581delinsGCCATTCTTG (p.Phe1188AlafsTer19) | dbSNP |
11 | g.47332225G>A | CA474428911 | MYBPC3 | c.3661C>T (p.Leu1221=) c.3643C>T (p.Leu1215=) c.3580C>T (p.Leu1194=) | |
11 | g.47332225G>C | CA380311708 | MYBPC3 | c.3661C>G (p.Leu1221Val) c.3643C>G (p.Leu1215Val) c.3580C>G (p.Leu1194Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332225G= | CA1969333538 | MYBPC3 | c.3661C= (p.Leu1221=) c.3643C= (p.Leu1215=) c.3580C= (p.Leu1194=) | |
11 | g.47332225G>T | CA380311711 | MYBPC3 | c.3661C>A (p.Leu1221Met) c.3643C>A (p.Leu1215Met) c.3580C>A (p.Leu1194Met) | |
11 | g.47332226G>A | CA474428912 | MYBPC3 | c.3660C>T (p.Asp1220=) c.3642C>T (p.Asp1214=) c.3579C>T (p.Asp1193=) | gnomAD v4 |
11 | g.47332226G>C | CA380311714 | MYBPC3 | c.3660C>G (p.Asp1220Glu) c.3642C>G (p.Asp1214Glu) c.3579C>G (p.Asp1193Glu) | |
11 | g.47332226G>T | CA380311717 | MYBPC3 | c.3660C>A (p.Asp1220Glu) c.3642C>A (p.Asp1214Glu) c.3579C>A (p.Asp1193Glu) | |
11 | g.47332227T>A | CA380311726 | MYBPC3 | c.3659A>T (p.Asp1220Val) c.3641A>T (p.Asp1214Val) c.3578A>T (p.Asp1193Val) | |
11 | g.47332227T>C | CA380311731 | MYBPC3 | c.3659A>G (p.Asp1220Gly) c.3641A>G (p.Asp1214Gly) c.3578A>G (p.Asp1193Gly) | |
11 | g.47332227T>G | CA380311723 | MYBPC3 | c.3659A>C (p.Asp1220Ala) c.3641A>C (p.Asp1214Ala) c.3578A>C (p.Asp1193Ala) | ClinVar |
11 | g.47332228C>A | CA380311736 | MYBPC3 | c.3658G>T (p.Asp1220Tyr) c.3640G>T (p.Asp1214Tyr) c.3577G>T (p.Asp1193Tyr) | |
11 | g.47332228C= | CA1969333543 | MYBPC3 | c.3658G= (p.Asp1220=) c.3640G= (p.Asp1214=) c.3577G= (p.Asp1193=) | |
11 | g.47332228C>G | CA380311738 | MYBPC3 | c.3658G>C (p.Asp1220His) c.3640G>C (p.Asp1214His) c.3577G>C (p.Asp1193His) | |
11 | g.47332228C>T | CA380311740 | MYBPC3 | c.3658G>A (p.Asp1220Asn) c.3640G>A (p.Asp1214Asn) c.3577G>A (p.Asp1193Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332229C>A | CA079493 | MYBPC3 | c.3657G>T (p.Leu1219=) c.3639G>T (p.Leu1213=) c.3576G>T (p.Leu1192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332229C= | CA1969333549 | MYBPC3 | c.3657G= (p.Leu1219=) c.3639G= (p.Leu1213=) c.3576G= (p.Leu1192=) | |
11 | g.47332229C>G | CA474428913 | MYBPC3 | c.3657G>C (p.Leu1219=) c.3639G>C (p.Leu1213=) c.3576G>C (p.Leu1192=) | |
11 | g.47332229C>T | CA474428914 | MYBPC3 | c.3657G>A (p.Leu1219=) c.3639G>A (p.Leu1213=) c.3576G>A (p.Leu1192=) | |
11 | g.47332230A= | CA1969333551 | MYBPC3 | c.3656T= (p.Leu1219=) c.3638T= (p.Leu1213=) c.3575T= (p.Leu1192=) | |
11 | g.47332230A>C | CA380311759 | MYBPC3 | c.3656T>G (p.Leu1219Arg) c.3638T>G (p.Leu1213Arg) c.3575T>G (p.Leu1192Arg) | |
11 | g.47332230A>G | CA380311754 | MYBPC3 | c.3656T>C (p.Leu1219Pro) c.3638T>C (p.Leu1213Pro) c.3575T>C (p.Leu1192Pro) | dbSNP gnomAD v4 |
11 | g.47332230A>T | CA380311751 | MYBPC3 | c.3656T>A (p.Leu1219Gln) c.3638T>A (p.Leu1213Gln) c.3575T>A (p.Leu1192Gln) | |
11 | g.47332231G>A | CA474428915 | MYBPC3 | c.3655C>T (p.Leu1219=) c.3637C>T (p.Leu1213=) c.3574C>T (p.Leu1192=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332231G>C | CA380311760 | MYBPC3 | c.3655C>G (p.Leu1219Val) c.3637C>G (p.Leu1213Val) c.3574C>G (p.Leu1192Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332231G= | CA1969333563 | MYBPC3 | c.3655C= (p.Leu1219=) c.3637C= (p.Leu1213=) c.3574C= (p.Leu1192=) | |
11 | g.47332231G>T | CA380311761 | MYBPC3 | c.3655C>A (p.Leu1219Met) c.3637C>A (p.Leu1213Met) c.3574C>A (p.Leu1192Met) | |
11 | g.47332232G>A | CA054638 | MYBPC3 | c.3654C>T (p.Gly1218=) c.3636C>T (p.Gly1212=) c.3573C>T (p.Gly1191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332232G>C | CA474428916 | MYBPC3 | c.3654C>G (p.Gly1218=) c.3636C>G (p.Gly1212=) c.3573C>G (p.Gly1191=) | |
11 | g.47332232G= | CA1969333569 | MYBPC3 | c.3654C= (p.Gly1218=) c.3636C= (p.Gly1212=) c.3573C= (p.Gly1191=) | |
11 | g.47332232G>T | CA474428917 | MYBPC3 | c.3654C>A (p.Gly1218=) c.3636C>A (p.Gly1212=) c.3573C>A (p.Gly1191=) | |
11 | g.47332233C>A | CA380311766 | MYBPC3 | c.3653G>T (p.Gly1218Val) c.3635G>T (p.Gly1212Val) c.3572G>T (p.Gly1191Val) | |
11 | g.47332233C>G | CA380311769 | MYBPC3 | c.3653G>C (p.Gly1218Ala) c.3635G>C (p.Gly1212Ala) c.3572G>C (p.Gly1191Ala) | ClinVar dbSNP |
11 | g.47332233C>T | CA380311771 | MYBPC3 | c.3653G>A (p.Gly1218Asp) c.3635G>A (p.Gly1212Asp) c.3572G>A (p.Gly1191Asp) | |
11 | g.47332234C>A | CA380311780 | MYBPC3 | c.3652G>T (p.Gly1218Cys) c.3634G>T (p.Gly1212Cys) c.3571G>T (p.Gly1191Cys) | |
11 | g.47332234C>G | CA380311788 | MYBPC3 | c.3652G>C (p.Gly1218Arg) c.3634G>C (p.Gly1212Arg) c.3571G>C (p.Gly1191Arg) | |
11 | g.47332234C>T | CA380311782 | MYBPC3 | c.3652G>A (p.Gly1218Ser) c.3634G>A (p.Gly1212Ser) c.3571G>A (p.Gly1191Ser) | |
11 | g.47332235A= | CA1969333577 | MYBPC3 | c.3651T= (p.Asn1217=) c.3633T= (p.Asn1211=) c.3570T= (p.Asn1190=) | |
11 | g.47332235A>C | CA380311793 | MYBPC3 | c.3651T>G (p.Asn1217Lys) c.3633T>G (p.Asn1211Lys) c.3570T>G (p.Asn1190Lys) | |
11 | g.47332235A>G | CA079489 | MYBPC3 | c.3651T>C (p.Asn1217=) c.3633T>C (p.Asn1211=) c.3570T>C (p.Asn1190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332235A>T | CA380311794 | MYBPC3 | c.3651T>A (p.Asn1217Lys) c.3633T>A (p.Asn1211Lys) c.3570T>A (p.Asn1190Lys) | gnomAD v4 |
11 | g.47332236T>A | CA380311797 | MYBPC3 | c.3650A>T (p.Asn1217Ile) c.3632A>T (p.Asn1211Ile) c.3569A>T (p.Asn1190Ile) | |
11 | g.47332236T>C | CA380311805 | MYBPC3 | c.3650A>G (p.Asn1217Ser) c.3632A>G (p.Asn1211Ser) c.3569A>G (p.Asn1190Ser) | |
11 | g.47332236T>G | CA380311801 | MYBPC3 | c.3650A>C (p.Asn1217Thr) c.3632A>C (p.Asn1211Thr) c.3569A>C (p.Asn1190Thr) | |
11 | g.47332237T>A | CA380311809 | MYBPC3 | c.3649A>T (p.Asn1217Tyr) c.3631A>T (p.Asn1211Tyr) c.3568A>T (p.Asn1190Tyr) | |
11 | g.47332237T>C | CA380311817 | MYBPC3 | c.3649A>G (p.Asn1217Asp) c.3631A>G (p.Asn1211Asp) c.3568A>G (p.Asn1190Asp) | |
11 | g.47332237T>G | CA380311818 | MYBPC3 | c.3649A>C (p.Asn1217His) c.3631A>C (p.Asn1211His) c.3568A>C (p.Asn1190His) | |
11 | g.47332238C>A | CA380311822 | MYBPC3 | c.3648G>T (p.Lys1216Asn) c.3630G>T (p.Lys1210Asn) c.3567G>T (p.Lys1189Asn) | ClinVar |
11 | g.47332238C>G | CA380311826 | MYBPC3 | c.3648G>C (p.Lys1216Asn) c.3630G>C (p.Lys1210Asn) c.3567G>C (p.Lys1189Asn) | |
11 | g.47332238C>T | CA474428918 | MYBPC3 | c.3648G>A (p.Lys1216=) c.3630G>A (p.Lys1210=) c.3567G>A (p.Lys1189=) | |
11 | g.47332239T>A | CA380311830 | MYBPC3 | c.3647A>T (p.Lys1216Met) c.3629A>T (p.Lys1210Met) c.3566A>T (p.Lys1189Met) | |
11 | g.47332239T>C | CA380311833 | MYBPC3 | c.3647A>G (p.Lys1216Arg) c.3629A>G (p.Lys1210Arg) c.3566A>G (p.Lys1189Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47332239T>G | CA380311836 | MYBPC3 | c.3647A>C (p.Lys1216Thr) c.3629A>C (p.Lys1210Thr) c.3566A>C (p.Lys1189Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47332239T= | CA1969333590 | MYBPC3 | c.3647A= (p.Lys1216=) c.3629A= (p.Lys1210=) c.3566A= (p.Lys1189=) | |
11 | g.47332240T>A | CA380311841 | MYBPC3 | c.3646A>T (p.Lys1216Ter) c.3628A>T (p.Lys1210Ter) c.3565A>T (p.Lys1189Ter) | |
11 | g.47332240T>C | CA380311846 | MYBPC3 | c.3646A>G (p.Lys1216Glu) c.3628A>G (p.Lys1210Glu) c.3565A>G (p.Lys1189Glu) | |
11 | g.47332240T>G | CA380311848 | MYBPC3 | c.3646A>C (p.Lys1216Gln) c.3628A>C (p.Lys1210Gln) c.3565A>C (p.Lys1189Gln) | |
11 | g.47332241G>A | CA474428919 | MYBPC3 | c.3645C>T (p.Phe1215=) c.3627C>T (p.Phe1209=) c.3564C>T (p.Phe1188=) | ClinVar gnomAD v4 |
11 | g.47332241G>C | CA380311852 | MYBPC3 | c.3645C>G (p.Phe1215Leu) c.3627C>G (p.Phe1209Leu) c.3564C>G (p.Phe1188Leu) | |
11 | g.47332241G= | CA1969333593 | MYBPC3 | c.3645C= (p.Phe1215=) c.3627C= (p.Phe1209=) c.3564C= (p.Phe1188=) | |
11 | g.47332241G>T | CA380311856 | MYBPC3 | c.3645C>A (p.Phe1215Leu) c.3627C>A (p.Phe1209Leu) c.3564C>A (p.Phe1188Leu) | |
11 | g.47332242A= | CA1969333601 | MYBPC3 | c.3644T= (p.Phe1215=) c.3626T= (p.Phe1209=) c.3563T= (p.Phe1188=) | |
11 | g.47332242A>C | CA380311870 | MYBPC3 | c.3644T>G (p.Phe1215Cys) c.3626T>G (p.Phe1209Cys) c.3563T>G (p.Phe1188Cys) | |
11 | g.47332242A>G | CA380311873 | MYBPC3 | c.3644T>C (p.Phe1215Ser) c.3626T>C (p.Phe1209Ser) c.3563T>C (p.Phe1188Ser) | |
11 | g.47332242A>T | CA380311877 | MYBPC3 | c.3644T>A (p.Phe1215Tyr) c.3626T>A (p.Phe1209Tyr) c.3563T>A (p.Phe1188Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332243dup | CA014559 | MYBPC3 | c.3644dup (p.Lys1216GlnfsTer26) c.3626dup (p.Lys1210GlnfsTer26) c.3563dup (p.Lys1189GlnfsTer26) | ClinVar dbSNP |
11 | g.47332243A>C | CA380311881 | MYBPC3 | c.3643T>G (p.Phe1215Val) c.3625T>G (p.Phe1209Val) c.3562T>G (p.Phe1188Val) | |
11 | g.47332243A>G | CA380311885 | MYBPC3 | c.3643T>C (p.Phe1215Leu) c.3625T>C (p.Phe1209Leu) c.3562T>C (p.Phe1188Leu) | gnomAD v4 |
11 | g.47332243A>T | CA380311888 | MYBPC3 | c.3643T>A (p.Phe1215Ile) c.3625T>A (p.Phe1209Ile) c.3562T>A (p.Phe1188Ile) | |
11 | g.47332244C>A | CA380311893 | MYBPC3 | c.3642G>T (p.Trp1214Cys) c.3624G>T (p.Trp1208Cys) c.3561G>T (p.Trp1187Cys) | ClinVar dbSNP |
11 | g.47332244C= | CA1969333612 | MYBPC3 | c.3642G= (p.Trp1214=) c.3624G= (p.Trp1208=) c.3561G= (p.Trp1187=) | |
11 | g.47332244C>G | CA380311898 | MYBPC3 | c.3642G>C (p.Trp1214Cys) c.3624G>C (p.Trp1208Cys) c.3561G>C (p.Trp1187Cys) | |
11 | g.47332244C>T | CA014549 | MYBPC3 | c.3642G>A (p.Trp1214Ter) c.3624G>A (p.Trp1208Ter) c.3561G>A (p.Trp1187Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332245C>A | CA380311911 | MYBPC3 | c.3641G>T (p.Trp1214Leu) c.3623G>T (p.Trp1208Leu) c.3560G>T (p.Trp1187Leu) | |
11 | g.47332245C= | CA1969333621 | MYBPC3 | c.3641G= (p.Trp1214=) c.3623G= (p.Trp1208=) c.3560G= (p.Trp1187=) | |
11 | g.47332245C>G | CA380311913 | MYBPC3 | c.3641G>C (p.Trp1214Ser) c.3623G>C (p.Trp1208Ser) c.3560G>C (p.Trp1187Ser) | ClinVar |
11 | g.47332245C>T | CA014541 | MYBPC3 | c.3641G>A (p.Trp1214Ter) c.3623G>A (p.Trp1208Ter) c.3560G>A (p.Trp1187Ter) | ClinVar dbSNP |
11 | g.47332246A>C | CA380311920 | MYBPC3 | c.3640T>G (p.Trp1214Gly) c.3622T>G (p.Trp1208Gly) c.3559T>G (p.Trp1187Gly) | |
11 | g.47332246A>G | CA380311923 | MYBPC3 | c.3640T>C (p.Trp1214Arg) c.3622T>C (p.Trp1208Arg) c.3559T>C (p.Trp1187Arg) | |
11 | g.47332246A>T | CA380311926 | MYBPC3 | c.3640T>A (p.Trp1214Arg) c.3622T>A (p.Trp1208Arg) c.3559T>A (p.Trp1187Arg) | |
11 | g.47332247G>A | CA474428920 | MYBPC3 | c.3639C>T (p.Ser1213=) c.3621C>T (p.Ser1207=) c.3558C>T (p.Ser1186=) | ClinVar gnomAD v4 |
11 | g.47332247G>C | CA474428921 | MYBPC3 | c.3639C>G (p.Ser1213=) c.3621C>G (p.Ser1207=) c.3558C>G (p.Ser1186=) | |
11 | g.47332247G>T | CA474428922 | MYBPC3 | c.3639C>A (p.Ser1213=) c.3621C>A (p.Ser1207=) c.3558C>A (p.Ser1186=) | |
11 | g.47332248G>A | CA221681882 | MYBPC3 | c.3638C>T (p.Ser1213Phe) c.3620C>T (p.Ser1207Phe) c.3557C>T (p.Ser1186Phe) | ClinVar dbSNP |
11 | g.47332248G>C | CA380311937 | MYBPC3 | c.3638C>G (p.Ser1213Cys) c.3620C>G (p.Ser1207Cys) c.3557C>G (p.Ser1186Cys) | |
11 | g.47332248G= | CA1969333625 | MYBPC3 | c.3638C= (p.Ser1213=) c.3620C= (p.Ser1207=) c.3557C= (p.Ser1186=) | |
11 | g.47332248G>T | CA380311940 | MYBPC3 | c.3638C>A (p.Ser1213Tyr) c.3620C>A (p.Ser1207Tyr) c.3557C>A (p.Ser1186Tyr) | |
11 | g.47332249A>C | CA380311944 | MYBPC3 | c.3637T>G (p.Ser1213Ala) c.3619T>G (p.Ser1207Ala) c.3556T>G (p.Ser1186Ala) | |
11 | g.47332249A>G | CA380311954 | MYBPC3 | c.3637T>C (p.Ser1213Pro) c.3619T>C (p.Ser1207Pro) c.3556T>C (p.Ser1186Pro) | |
11 | g.47332249A>T | CA380311951 | MYBPC3 | c.3637T>A (p.Ser1213Thr) c.3619T>A (p.Ser1207Thr) c.3556T>A (p.Ser1186Thr) | |
11 | g.47332250A>C | CA380311958 | MYBPC3 | c.3636T>G (p.Ile1212Met) c.3618T>G (p.Ile1206Met) c.3555T>G (p.Ile1185Met) | |
11 | g.47332250A>G | CA474428923 | MYBPC3 | c.3636T>C (p.Ile1212=) c.3618T>C (p.Ile1206=) c.3555T>C (p.Ile1185=) | |
11 | g.47332250A>T | CA474428924 | MYBPC3 | c.3636T>A (p.Ile1212=) c.3618T>A (p.Ile1206=) c.3555T>A (p.Ile1185=) | |
11 | g.47332251A>C | CA380311965 | MYBPC3 | c.3635T>G (p.Ile1212Ser) c.3617T>G (p.Ile1206Ser) c.3554T>G (p.Ile1185Ser) | |
11 | g.47332251A>G | CA380311969 | MYBPC3 | c.3635T>C (p.Ile1212Thr) c.3617T>C (p.Ile1206Thr) c.3554T>C (p.Ile1185Thr) | |
11 | g.47332251A>T | CA380311973 | MYBPC3 | c.3635T>A (p.Ile1212Asn) c.3617T>A (p.Ile1206Asn) c.3554T>A (p.Ile1185Asn) | |
11 | g.47332252T>A | CA380311974 | MYBPC3 | c.3634A>T (p.Ile1212Phe) c.3616A>T (p.Ile1206Phe) c.3553A>T (p.Ile1185Phe) | gnomAD v4 |
11 | g.47332252T>C | CA380311978 | MYBPC3 | c.3634A>G (p.Ile1212Val) c.3616A>G (p.Ile1206Val) c.3553A>G (p.Ile1185Val) | |
11 | g.47332252T>G | CA380311975 | MYBPC3 | c.3634A>C (p.Ile1212Leu) c.3616A>C (p.Ile1206Leu) c.3553A>C (p.Ile1185Leu) | |
11 | g.47332253C>A | CA380311981 | MYBPC3 | c.3633G>T (p.Lys1211Asn) c.3615G>T (p.Lys1205Asn) c.3552G>T (p.Lys1184Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47332253C= | CA1969333628 | MYBPC3 | c.3633G= (p.Lys1211=) c.3615G= (p.Lys1205=) c.3552G= (p.Lys1184=) | |
11 | g.47332253C>G | CA380311996 | MYBPC3 | c.3633G>C (p.Lys1211Asn) c.3615G>C (p.Lys1205Asn) c.3552G>C (p.Lys1184Asn) | |
11 | g.47332253C>T | CA474428925 | MYBPC3 | c.3633G>A (p.Lys1211=) c.3615G>A (p.Lys1205=) c.3552G>A (p.Lys1184=) | |
11 | g.47332254T>A | CA380312003 | MYBPC3 | c.3632A>T (p.Lys1211Met) c.3614A>T (p.Lys1205Met) c.3551A>T (p.Lys1184Met) | |
11 | g.47332254T>C | CA380312009 | MYBPC3 | c.3632A>G (p.Lys1211Arg) c.3614A>G (p.Lys1205Arg) c.3551A>G (p.Lys1184Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332254T>G | CA380312011 | MYBPC3 | c.3632A>C (p.Lys1211Thr) c.3614A>C (p.Lys1205Thr) c.3551A>C (p.Lys1184Thr) | |
11 | g.47332254T= | CA1969333632 | MYBPC3 | c.3632A= (p.Lys1211=) c.3614A= (p.Lys1205=) c.3551A= (p.Lys1184=) | |
11 | g.47332255T>A | CA380312028 | MYBPC3 | c.3631A>T (p.Lys1211Ter) c.3613A>T (p.Lys1205Ter) c.3550A>T (p.Lys1184Ter) | |
11 | g.47332255T>C | CA380312029 | MYBPC3 | c.3631A>G (p.Lys1211Glu) c.3613A>G (p.Lys1205Glu) c.3550A>G (p.Lys1184Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.47332255T>G | CA380312030 | MYBPC3 | c.3631A>C (p.Lys1211Gln) c.3613A>C (p.Lys1205Gln) c.3550A>C (p.Lys1184Gln) | |
11 | g.47332255T= | CA1969333634 | MYBPC3 | c.3631A= (p.Lys1211=) c.3613A= (p.Lys1205=) c.3550A= (p.Lys1184=) | |
11 | g.47332256G>A | CA474428926 | MYBPC3 | c.3630C>T (p.Pro1210=) c.3612C>T (p.Pro1204=) c.3549C>T (p.Pro1183=) | |
11 | g.47332256G>C | CA474428927 | MYBPC3 | c.3630C>G (p.Pro1210=) c.3612C>G (p.Pro1204=) c.3549C>G (p.Pro1183=) | |
11 | g.47332256G>T | CA474428928 | MYBPC3 | c.3630C>A (p.Pro1210=) c.3612C>A (p.Pro1204=) c.3549C>A (p.Pro1183=) | |
11 | g.47332257G>A | CA380312033 | MYBPC3 | c.3629C>T (p.Pro1210Leu) c.3611C>T (p.Pro1204Leu) c.3548C>T (p.Pro1183Leu) | |
11 | g.47332257G>C | CA380312036 | MYBPC3 | c.3629C>G (p.Pro1210Arg) c.3611C>G (p.Pro1204Arg) c.3548C>G (p.Pro1183Arg) | |
11 | g.47332257G>T | CA380312039 | MYBPC3 | c.3629C>A (p.Pro1210His) c.3611C>A (p.Pro1204His) c.3548C>A (p.Pro1183His) | |
11 | g.47332258G>A | CA380312041 | MYBPC3 | c.3628C>T (p.Pro1210Ser) c.3610C>T (p.Pro1204Ser) c.3547C>T (p.Pro1183Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332258G>C | CA380312043 | MYBPC3 | c.3628C>G (p.Pro1210Ala) c.3610C>G (p.Pro1204Ala) c.3547C>G (p.Pro1183Ala) | |
11 | g.47332258G= | CA1969333640 | MYBPC3 | c.3628C= (p.Pro1210=) c.3610C= (p.Pro1204=) c.3547C= (p.Pro1183=) | |
11 | g.47332258G>T | CA380312040 | MYBPC3 | c.3628C>A (p.Pro1210Thr) c.3610C>A (p.Pro1204Thr) c.3547C>A (p.Pro1183Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332259C>A | CA380312051 | MYBPC3 | c.3628-1G>T (n.3628-1G>T) c.3610-1G>T (n.3610-1G>T) c.3547-1G>T (n.3547-1G>T) | |
11 | g.47332259C>G | CA380312046 | MYBPC3 | c.3628-1G>C (n.3628-1G>C) c.3610-1G>C (n.3610-1G>C) c.3547-1G>C (n.3547-1G>C) | |
11 | g.47332259C>T | CA380312048 | MYBPC3 | c.3628-1G>A (n.3628-1G>A) c.3610-1G>A (n.3610-1G>A) c.3547-1G>A (n.3547-1G>A) | |
11 | g.47332259_47335041del | CA2580084187 | MYBPC3 | c.2905+1_3628-1del c.2887+1_3610-1del c.2824+1_3547-1del | ClinVar |
11 | g.47332260T>A | CA380312055 | MYBPC3 | c.3628-2A>T (n.3628-2A>T) c.3610-2A>T (n.3610-2A>T) c.3547-2A>T (n.3547-2A>T) | |
11 | g.47332260T>C | CA380312057 | MYBPC3 | c.3628-2A>G (n.3628-2A>G) c.3610-2A>G (n.3610-2A>G) c.3547-2A>G (n.3547-2A>G) | |
11 | g.47332260T>G | CA380312060 | MYBPC3 | c.3628-2A>C (n.3628-2A>C) c.3610-2A>C (n.3610-2A>C) c.3547-2A>C (n.3547-2A>C) | |
11 | g.47332261A= | CA1969333645 | MYBPC3 | c.3628-3T= (n.3628-3T=) c.3610-3T= (n.3610-3T=) c.3547-3T= (n.3547-3T=) | |
11 | g.47332261A>G | CA2551843287 | MYBPC3 | c.3628-3T>C (n.3628-3T>C) c.3610-3T>C (n.3610-3T>C) c.3547-3T>C (n.3547-3T>C) | |
11 | g.47332261A>T | CA599374102 | MYBPC3 | c.3628-3T>A (n.3628-3T>A) c.3610-3T>A (n.3610-3T>A) c.3547-3T>A (n.3547-3T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332265_47332268del | CA2739270413 | MYBPC3 | c.3628-6_3628-3del (n.3628-6_3628-3del) c.3610-6_3610-3del (n.3610-6_3610-3del) c.3547-6_3547-3del (n.3547-6_3547-3del) | ClinVar |
11 | g.47332262T>C | CA079475 | MYBPC3 | c.3628-4A>G (n.3628-4A>G) c.3610-4A>G (n.3610-4A>G) c.3547-4A>G (n.3547-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332262T>G | CA2574815677 | MYBPC3 | c.3628-4A>C (n.3628-4A>C) c.3610-4A>C (n.3610-4A>C) c.3547-4A>C (n.3547-4A>C) | |
11 | g.47332262T= | CA1969333648 | MYBPC3 | c.3628-4A= (n.3628-4A=) c.3610-4A= (n.3610-4A=) c.3547-4A= (n.3547-4A=) | |
11 | g.47332263A= | CA1969333650 | MYBPC3 | c.3628-5T= (n.3628-5T=) c.3610-5T= (n.3610-5T=) c.3547-5T= (n.3547-5T=) | |
11 | g.47332263A>G | CA079483 | MYBPC3 | c.3628-5T>C (n.3628-5T>C) c.3610-5T>C (n.3610-5T>C) c.3547-5T>C (n.3547-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332264A= | CA1969333652 | MYBPC3 | c.3628-6T= (n.3628-6T=) c.3610-6T= (n.3610-6T=) c.3547-6T= (n.3547-6T=) | |
11 | g.47332264A>G | CA16606241 | MYBPC3 | c.3628-6T>C (n.3628-6T>C) c.3610-6T>C (n.3610-6T>C) c.3547-6T>C (n.3547-6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332269_47332273del | CA2574815678 | MYBPC3 | c.3628-12_3628-8del (n.3628-12_3628-8del) c.3610-12_3610-8del (n.3610-12_3610-8del) c.3547-12_3547-8del (n.3547-12_3547-8del) | |
11 | g.47332266_47332267insC | CA2520284591 | MYBPC3 | c.3628-9_3628-8insG (n.3628-9_3628-8insG) c.3610-9_3610-8insG (n.3610-9_3610-8insG) c.3547-9_3547-8insG (n.3547-9_3547-8insG) | |
11 | g.47332267_47332292delinsAAGGTAAAGAGAGGGAGGGAAGCCAT | CA1969333655 | MYBPC3 | c.3628-34_3628-9delinsATGGCTTCCCTCCCTCTCTTTACCTT (n.3628-34_3628-9delinsATGGCTTCCCTCCCTCTCTTTACCTT) c.3610-34_3610-9delinsATGGCTTCCCTCCCTCTCTTTACCTT (n.3610-34_3610-9delinsATGGCTTCCCTCCCTCTCTTTACCTT) c.3547-34_3547-9delinsATGGCTTCCCTCCCTCTCTTTACCTT (n.3547-34_3547-9delinsATGGCTTCCCTCCCTCTCTTTACCTT) | |
11 | g.47332268_47332292del | CA119783 | MYBPC3 | c.3628-34_3628-10del (n.3628-34_3628-10del) c.3610-34_3610-10del (n.3610-34_3610-10del) c.3547-34_3547-10del (n.3547-34_3547-10del) | ClinVar dbSNP |
11 | g.47332269G>C | CA2613355893 | MYBPC3 | c.3628-11C>G (n.3628-11C>G) c.3610-11C>G (n.3610-11C>G) c.3547-11C>G (n.3547-11C>G) | gnomAD v4 |
11 | g.47332270G>C | CA079463 | MYBPC3 | c.3628-12C>G (n.3628-12C>G) c.3610-12C>G (n.3610-12C>G) c.3547-12C>G (n.3547-12C>G) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.47332270G= | CA1969333663 | MYBPC3 | c.3628-12C= (n.3628-12C=) c.3610-12C= (n.3610-12C=) c.3547-12C= (n.3547-12C=) | |
11 | g.47332271_47332275delinsTAAAG | CA1969333666 | MYBPC3 | c.3628-17_3628-13delinsCTTTA (n.3628-17_3628-13delinsCTTTA) c.3610-17_3610-13delinsCTTTA (n.3610-17_3610-13delinsCTTTA) c.3547-17_3547-13delinsCTTTA (n.3547-17_3547-13delinsCTTTA) | |
11 | g.47332273_47332274del | CA2613355894 | MYBPC3 | c.3628-15_3628-14del (n.3628-15_3628-14del) c.3610-15_3610-14del (n.3610-15_3610-14del) c.3547-15_3547-14del (n.3547-15_3547-14del) | gnomAD v4 |
11 | g.47332272_47332276del | CA2697548540 | MYBPC3 | c.3628-18_3628-14del (n.3628-18_3628-14del) c.3610-18_3610-14del (n.3610-18_3610-14del) c.3547-18_3547-14del (n.3547-18_3547-14del) | ClinVar |
11 | g.47332273_47332276del | CA599374103 | MYBPC3 | c.3628-17_3628-14del (n.3628-17_3628-14del) c.3610-17_3610-14del (n.3610-17_3610-14del) c.3547-17_3547-14del (n.3547-17_3547-14del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332278_47332279del | CA2613355895 | MYBPC3 | c.3628-17_3628-16del (n.3628-17_3628-16del) c.3610-17_3610-16del (n.3610-17_3610-16del) c.3547-17_3547-16del (n.3547-17_3547-16del) | ClinVar gnomAD v4 |
11 | g.47332276_47332279del | CA2613355896 | MYBPC3 | c.3628-19_3628-16del (n.3628-19_3628-16del) c.3610-19_3610-16del (n.3610-19_3610-16del) c.3547-19_3547-16del (n.3547-19_3547-16del) | gnomAD v4 |
11 | g.47332274_47332299delinsAGAGAGGGAGGGAAGCCATCCAGGCT | CA1969333668 | MYBPC3 | c.3628-41_3628-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT (n.3628-41_3628-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT) c.3610-41_3610-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT (n.3610-41_3610-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT) c.3547-41_3547-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT (n.3547-41_3547-16delinsAGCCTGGATGGCTTCCCTCCCTCTCT) | |
11 | g.47332282_47332306del | CA079470 | MYBPC3 | c.3628-41_3628-17del (n.3628-41_3628-17del) c.3610-41_3610-17del (n.3610-41_3610-17del) c.3547-41_3547-17del (n.3547-41_3547-17del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332276A>G | CA2613355897 | MYBPC3 | c.3628-18T>C (n.3628-18T>C) c.3610-18T>C (n.3610-18T>C) c.3547-18T>C (n.3547-18T>C) | gnomAD v4 |
11 | g.47332278A>G | CA2573146358 | MYBPC3 | c.3628-20T>C (n.3628-20T>C) c.3610-20T>C (n.3610-20T>C) c.3547-20T>C (n.3547-20T>C) | ClinVar dbSNP |
11 | g.47332278_47332279delinsAG | CA1969333676 | MYBPC3 | c.3628-21_3628-20delinsCT (n.3628-21_3628-20delinsCT) c.3610-21_3610-20delinsCT (n.3610-21_3610-20delinsCT) c.3547-21_3547-20delinsCT (n.3547-21_3547-20delinsCT) | |
11 | g.47332279G>A | CA221681895 | MYBPC3 | c.3628-21C>T (n.3628-21C>T) c.3610-21C>T (n.3610-21C>T) c.3547-21C>T (n.3547-21C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332279G>C | CA937665334 | MYBPC3 | c.3628-21C>G (n.3628-21C>G) c.3610-21C>G (n.3610-21C>G) c.3547-21C>G (n.3547-21C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332279G= | CA1969333681 | MYBPC3 | c.3628-21C= (n.3628-21C=) c.3610-21C= (n.3610-21C=) c.3547-21C= (n.3547-21C=) | |
11 | g.47332281del | CA1969333684 | MYBPC3 | c.3628-21del (n.3628-21del) c.3610-21del (n.3610-21del) c.3547-21del (n.3547-21del) | dbSNP |
11 | g.47332280G>A | CA2613355898 | MYBPC3 | c.3628-22C>T (n.3628-22C>T) c.3610-22C>T (n.3610-22C>T) c.3547-22C>T (n.3547-22C>T) | ClinVar gnomAD v4 |
11 | g.47332281G>A | CA677013480 | MYBPC3 | c.3628-23C>T (n.3628-23C>T) c.3610-23C>T (n.3610-23C>T) c.3547-23C>T (n.3547-23C>T) | dbSNP |
11 | g.47332281G= | CA1969333686 | MYBPC3 | c.3628-23C= (n.3628-23C=) c.3610-23C= (n.3610-23C=) c.3547-23C= (n.3547-23C=) | |
11 | g.47332282A>G | CA2613355899 | MYBPC3 | c.3628-24T>C (n.3628-24T>C) c.3610-24T>C (n.3610-24T>C) c.3547-24T>C (n.3547-24T>C) | gnomAD v4 |
11 | g.47332283G>A | CA079465 | MYBPC3 | c.3628-25C>T (n.3628-25C>T) c.3610-25C>T (n.3610-25C>T) c.3547-25C>T (n.3547-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332283G= | CA1969333689 | MYBPC3 | c.3628-25C= (n.3628-25C=) c.3610-25C= (n.3610-25C=) c.3547-25C= (n.3547-25C=) | |
11 | g.47332284G>C | CA2613355900 | MYBPC3 | c.3628-26C>G (n.3628-26C>G) c.3610-26C>G (n.3610-26C>G) c.3547-26C>G (n.3547-26C>G) | gnomAD v4 |
11 | g.47332285G>A | CA2613355901 | MYBPC3 | c.3628-27C>T (n.3628-27C>T) c.3610-27C>T (n.3610-27C>T) c.3547-27C>T (n.3547-27C>T) | ClinVar gnomAD v4 |
11 | g.47332285G>C | CA599374104 | MYBPC3 | c.3628-27C>G (n.3628-27C>G) c.3610-27C>G (n.3610-27C>G) c.3547-27C>G (n.3547-27C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332285G= | CA1969333691 | MYBPC3 | c.3628-27C= (n.3628-27C=) c.3610-27C= (n.3610-27C=) c.3547-27C= (n.3547-27C=) | |
11 | g.47332286A>G | CA2613355902 | MYBPC3 | c.3628-28T>C (n.3628-28T>C) c.3610-28T>C (n.3610-28T>C) c.3547-28T>C (n.3547-28T>C) | gnomAD v4 |
11 | g.47332287A>C | CA2613355903 | MYBPC3 | c.3628-29T>G (n.3628-29T>G) c.3610-29T>G (n.3610-29T>G) c.3547-29T>G (n.3547-29T>G) | gnomAD v4 |
11 | g.47332287A>G | CA2573146359 | MYBPC3 | c.3628-29T>C (n.3628-29T>C) c.3610-29T>C (n.3610-29T>C) c.3547-29T>C (n.3547-29T>C) | ClinVar dbSNP |
11 | g.47332288G>C | CA2574815679 | MYBPC3 | c.3628-30C>G (n.3628-30C>G) c.3610-30C>G (n.3610-30C>G) c.3547-30C>G (n.3547-30C>G) | ClinVar gnomAD v4 |
11 | g.47332289C= | CA1969333694 | MYBPC3 | c.3628-31G= (n.3628-31G=) c.3610-31G= (n.3610-31G=) c.3547-31G= (n.3547-31G=) | |
11 | g.47332289C>G | CA079467 | MYBPC3 | c.3628-31G>C (n.3628-31G>C) c.3610-31G>C (n.3610-31G>C) c.3547-31G>C (n.3547-31G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332290C= | CA1969333701 | MYBPC3 | c.3628-32G= (n.3628-32G=) c.3610-32G= (n.3610-32G=) c.3547-32G= (n.3547-32G=) | |
11 | g.47332290C>T | CA079468 | MYBPC3 | c.3628-32G>A (n.3628-32G>A) c.3610-32G>A (n.3610-32G>A) c.3547-32G>A (n.3547-32G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332291A= | CA1969333704 | MYBPC3 | c.3628-33T= (n.3628-33T=) c.3610-33T= (n.3610-33T=) c.3547-33T= (n.3547-33T=) | |
11 | g.47332291A>G | CA677013495 | MYBPC3 | c.3628-33T>C (n.3628-33T>C) c.3610-33T>C (n.3610-33T>C) c.3547-33T>C (n.3547-33T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332291_47332292del | CA2739270414 | MYBPC3 | c.3628-34_3628-33del (n.3628-34_3628-33del) c.3610-34_3610-33del (n.3610-34_3610-33del) c.3547-34_3547-33del (n.3547-34_3547-33del) | ClinVar |
11 | g.47332292T>G | CA2613355904 | MYBPC3 | c.3628-34A>C (n.3628-34A>C) c.3610-34A>C (n.3610-34A>C) c.3547-34A>C (n.3547-34A>C) | gnomAD v4 |
11 | g.47332293C= | CA1969333706 | MYBPC3 | c.3628-35G= (n.3628-35G=) c.3610-35G= (n.3610-35G=) c.3547-35G= (n.3547-35G=) | |
11 | g.47332293C>G | CA599374105 | MYBPC3 | c.3628-35G>C (n.3628-35G>C) c.3610-35G>C (n.3610-35G>C) c.3547-35G>C (n.3547-35G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332293C>T | CA2613355905 | MYBPC3 | c.3628-35G>A (n.3628-35G>A) c.3610-35G>A (n.3610-35G>A) c.3547-35G>A (n.3547-35G>A) | gnomAD v4 |
11 | g.47332295A>G | CA2613355906 | MYBPC3 | c.3628-37T>C (n.3628-37T>C) c.3610-37T>C (n.3610-37T>C) c.3547-37T>C (n.3547-37T>C) | gnomAD v4 |
11 | g.47332297G= | CA1969333710 | MYBPC3 | c.3628-39C= (n.3628-39C=) c.3610-39C= (n.3610-39C=) c.3547-39C= (n.3547-39C=) | |
11 | g.47332297G>T | CA2613355907 | MYBPC3 | c.3628-39C>A (n.3628-39C>A) c.3610-39C>A (n.3610-39C>A) c.3547-39C>A (n.3547-39C>A) | gnomAD v4 |
11 | g.47332298C= | CA1969333711 | MYBPC3 | c.3628-40G= (n.3628-40G=) c.3610-40G= (n.3610-40G=) c.3547-40G= (n.3547-40G=) | |
11 | g.47332298C>T | CA1969333712 | MYBPC3 | c.3628-40G>A (n.3628-40G>A) c.3610-40G>A (n.3610-40G>A) c.3547-40G>A (n.3547-40G>A) | dbSNP |
11 | g.47332298dup | CA677013500 | MYBPC3 | c.3628-40dup (n.3628-40dup) c.3610-40dup (n.3610-40dup) c.3547-40dup (n.3547-40dup) | dbSNP gnomAD v4 |
11 | g.47332299T>C | CA2613355908 | MYBPC3 | c.3628-41A>G (n.3628-41A>G) c.3610-41A>G (n.3610-41A>G) c.3547-41A>G (n.3547-41A>G) | gnomAD v4 |
11 | g.47332299_47332303delinsTGAGA | CA1969333713 | MYBPC3 | c.3628-45_3628-41delinsTCTCA (n.3628-45_3628-41delinsTCTCA) c.3610-45_3610-41delinsTCTCA (n.3610-45_3610-41delinsTCTCA) c.3547-45_3547-41delinsTCTCA (n.3547-45_3547-41delinsTCTCA) | |
11 | g.47332299_47332306delinsTGAGAGGG | CA1969333714 | MYBPC3 | c.3628-48_3628-41delinsCCCTCTCA (n.3628-48_3628-41delinsCCCTCTCA) c.3610-48_3610-41delinsCCCTCTCA (n.3610-48_3610-41delinsCCCTCTCA) c.3547-48_3547-41delinsCCCTCTCA (n.3547-48_3547-41delinsCCCTCTCA) | |
11 | g.47332299_47332308delinsTGAGAGGGGA | CA1969333715 | MYBPC3 | c.3628-50_3628-41delinsTCCCCTCTCA (n.3628-50_3628-41delinsTCCCCTCTCA) c.3610-50_3610-41delinsTCCCCTCTCA (n.3610-50_3610-41delinsTCCCCTCTCA) c.3547-50_3547-41delinsTCCCCTCTCA (n.3547-50_3547-41delinsTCCCCTCTCA) | |
11 | g.47332300G>A | CA2574815681 | MYBPC3 | c.3628-42C>T (n.3628-42C>T) c.3610-42C>T (n.3610-42C>T) c.3547-42C>T (n.3547-42C>T) | |
11 | g.47332303_47332304del | CA2574815680 | MYBPC3 | c.3628-43_3628-42del (n.3628-43_3628-42del) c.3610-43_3610-42del (n.3610-43_3610-42del) c.3547-43_3547-42del (n.3547-43_3547-42del) | gnomAD v4 |
11 | g.47332301_47332304del | CA5975357 | MYBPC3 | c.3628-45_3628-42del (n.3628-45_3628-42del) c.3610-45_3610-42del (n.3610-45_3610-42del) c.3547-45_3547-42del (n.3547-45_3547-42del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332300_47332308del | CA079477 | MYBPC3 | c.3628-50_3628-42del (n.3628-50_3628-42del) c.3610-50_3610-42del (n.3610-50_3610-42del) c.3547-50_3547-42del (n.3547-50_3547-42del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332302_47332308del | CA1969333717 | MYBPC3 | c.3628-48_3628-42del (n.3628-48_3628-42del) c.3610-48_3610-42del (n.3610-48_3610-42del) c.3547-48_3547-42del (n.3547-48_3547-42del) | dbSNP |
11 | g.47332301A= | CA1969333718 | MYBPC3 | c.3628-43T= (n.3628-43T=) c.3610-43T= (n.3610-43T=) c.3547-43T= (n.3547-43T=) | |
11 | g.47332301A>T | CA1969333719 | MYBPC3 | c.3628-43T>A (n.3628-43T>A) c.3610-43T>A (n.3610-43T>A) c.3547-43T>A (n.3547-43T>A) | dbSNP gnomAD v4 |
11 | g.47332302G>A | CA599374106 | MYBPC3 | c.3628-44C>T (n.3628-44C>T) c.3610-44C>T (n.3610-44C>T) c.3547-44C>T (n.3547-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332302G= | CA1969333720 | MYBPC3 | c.3628-44C= (n.3628-44C=) c.3610-44C= (n.3610-44C=) c.3547-44C= (n.3547-44C=) | |
11 | g.47332303A= | CA1969333723 | MYBPC3 | c.3628-45T= (n.3628-45T=) c.3610-45T= (n.3610-45T=) c.3547-45T= (n.3547-45T=) | |
11 | g.47332303A>G | CA2574815682 | MYBPC3 | c.3628-45T>C (n.3628-45T>C) c.3610-45T>C (n.3610-45T>C) c.3547-45T>C (n.3547-45T>C) | |
11 | g.47332303A>T | CA913190270 | MYBPC3 | c.3628-45T>A (n.3628-45T>A) c.3610-45T>A (n.3610-45T>A) c.3547-45T>A (n.3547-45T>A) | ClinVar dbSNP |
11 | g.47332303_47332304delinsAG | CA1969333721 | MYBPC3 | c.3628-46_3628-45delinsCT (n.3628-46_3628-45delinsCT) c.3610-46_3610-45delinsCT (n.3610-46_3610-45delinsCT) c.3547-46_3547-45delinsCT (n.3547-46_3547-45delinsCT) | |
11 | g.47332304G>A | CA599374107 | MYBPC3 | c.3628-46C>T (n.3628-46C>T) c.3610-46C>T (n.3610-46C>T) c.3547-46C>T (n.3547-46C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332304G= | CA1969333729 | MYBPC3 | c.3628-46C= (n.3628-46C=) c.3610-46C= (n.3610-46C=) c.3547-46C= (n.3547-46C=) | |
11 | g.47332307del | CA079472 | MYBPC3 | c.3628-46del (n.3628-46del) c.3610-46del (n.3610-46del) c.3547-46del (n.3547-46del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332305G>A | CA079473 | MYBPC3 | c.3628-47C>T (n.3628-47C>T) c.3610-47C>T (n.3610-47C>T) c.3547-47C>T (n.3547-47C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332305G= | CA1969333732 | MYBPC3 | c.3628-47C= (n.3628-47C=) c.3610-47C= (n.3610-47C=) c.3547-47C= (n.3547-47C=) | |
11 | g.47332305G>T | CA2574815684 | MYBPC3 | c.3628-47C>A (n.3628-47C>A) c.3610-47C>A (n.3610-47C>A) c.3547-47C>A (n.3547-47C>A) | |
11 | g.47332306G>A | CA677013509 | MYBPC3 | c.3628-48C>T (n.3628-48C>T) c.3610-48C>T (n.3610-48C>T) c.3547-48C>T (n.3547-48C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332306G= | CA1969333733 | MYBPC3 | c.3628-48C= (n.3628-48C=) c.3610-48C= (n.3610-48C=) c.3547-48C= (n.3547-48C=) | |
11 | g.47332306G>T | CA2613355913 | MYBPC3 | c.3628-48C>A (n.3628-48C>A) c.3610-48C>A (n.3610-48C>A) c.3547-48C>A (n.3547-48C>A) | gnomAD v4 |
11 | g.47332307G= | CA1969333736 | MYBPC3 | c.3628-49C= (n.3628-49C=) c.3610-49C= (n.3610-49C=) c.3547-49C= (n.3547-49C=) | |
11 | g.47332307G>T | CA1969333737 | MYBPC3 | c.3628-49C>A (n.3628-49C>A) c.3610-49C>A (n.3610-49C>A) c.3547-49C>A (n.3547-49C>A) | dbSNP |