UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
| 11 | g.47346242_47346313delinsAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT | CA1969339501 | MYBPC3 | c.984_1055delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala328=) c.966_1037delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala322=) | |
| 11 | g.47346247_47346317del | CA016227 | MYBPC3 | c.984_1054del (p.Pro329GlnfsTer7) c.966_1036del (p.Pro323GlnfsTer7) | ClinVar dbSNP |
| 11 | g.47346293C>A | CA380331454 | MYBPC3 | c.1004G>T (p.Arg335Leu) c.986G>T (p.Arg329Leu) | gnomAD v4 |
| 11 | g.47346293C>G | CA380331458 | MYBPC3 | c.1004G>C (p.Arg335Pro) c.986G>C (p.Arg329Pro) | |
| 11 | g.47346293C>T | CA380331459 | MYBPC3 | c.1004G>A (p.Arg335His) c.986G>A (p.Arg329His) | gnomAD v4 |
| 11 | g.47346294G>A | CA009677 | MYBPC3 | c.1003C>T (p.Arg335Cys) c.985C>T (p.Arg329Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47346294G>C | CA380331461 | MYBPC3 | c.1003C>G (p.Arg335Gly) c.985C>G (p.Arg329Gly) | |
| 11 | g.47346294G= | CA1969339623 | MYBPC3 | c.1003C= (p.Arg335=) c.985C= (p.Arg329=) | |
| 11 | g.47346294G>T | CA380331460 | MYBPC3 | c.1003C>A (p.Arg335Ser) c.985C>A (p.Arg329Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346295C>A | CA380331463 | MYBPC3 | c.1002G>T (p.Glu334Asp) c.984G>T (p.Glu328Asp) | |
| 11 | g.47346295C>G | CA380331466 | MYBPC3 | c.1002G>C (p.Glu334Asp) c.984G>C (p.Glu328Asp) | |
| 11 | g.47346295C>T | CA474220913 | MYBPC3 | c.1002G>A (p.Glu334=) c.984G>A (p.Glu328=) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47346296T>A | CA380331470 | MYBPC3 | c.1001A>T (p.Glu334Val) c.983A>T (p.Glu328Val) | |
| 11 | g.47346296T>C | CA380331473 | MYBPC3 | c.1001A>G (p.Glu334Gly) c.983A>G (p.Glu328Gly) | |
| 11 | g.47346296T>G | CA380331479 | MYBPC3 | c.1001A>C (p.Glu334Ala) c.983A>C (p.Glu328Ala) | |
| 11 | g.47346297C>A | CA009672 | MYBPC3 | c.1000G>T (p.Glu334Ter) c.982G>T (p.Glu328Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346297C= | CA1969339628 | MYBPC3 | c.1000G= (p.Glu334=) c.982G= (p.Glu328=) | |
| 11 | g.47346297C>G | CA380331485 | MYBPC3 | c.1000G>C (p.Glu334Gln) c.982G>C (p.Glu328Gln) | |
| 11 | g.47346297C>T | CA009667 | MYBPC3 | c.1000G>A (p.Glu334Lys) c.982G>A (p.Glu328Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47346298del | CA2697548549 | MYBPC3 | c.999del (p.Tyr333Ter) c.981del (p.Tyr327Ter) | ClinVar |
| 11 | g.47346298G>A | CA057719 | MYBPC3 | c.999C>T (p.Tyr333=) c.981C>T (p.Tyr327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346298G>C | CA016252 | MYBPC3 | c.999C>G (p.Tyr333Ter) c.981C>G (p.Tyr327Ter) | ClinVar dbSNP |
| 11 | g.47346298G= | CA1969339631 | MYBPC3 | c.999C= (p.Tyr333=) c.981C= (p.Tyr327=) | |
| 11 | g.47346298G>T | CA380331492 | MYBPC3 | c.999C>A (p.Tyr333Ter) c.981C>A (p.Tyr327Ter) | ClinVar dbSNP |
| 11 | g.47346299T>A | CA380331496 | MYBPC3 | c.998A>T (p.Tyr333Phe) c.980A>T (p.Tyr327Phe) | |
| 11 | g.47346299T>C | CA380331502 | MYBPC3 | c.998A>G (p.Tyr333Cys) c.980A>G (p.Tyr327Cys) | |
| 11 | g.47346299T>G | CA380331500 | MYBPC3 | c.998A>C (p.Tyr333Ser) c.980A>C (p.Tyr327Ser) | |
| 11 | g.47346300A>C | CA380331504 | MYBPC3 | c.997T>G (p.Tyr333Asp) c.979T>G (p.Tyr327Asp) | |
| 11 | g.47346300A>G | CA380331508 | MYBPC3 | c.997T>C (p.Tyr333His) c.979T>C (p.Tyr327His) | |
| 11 | g.47346300A>T | CA380331506 | MYBPC3 | c.997T>A (p.Tyr333Asn) c.979T>A (p.Tyr327Asn) | |
| 11 | g.47346301C>A | CA380331511 | MYBPC3 | c.996G>T (p.Glu332Asp) c.978G>T (p.Glu326Asp) | |
| 11 | g.47346301C>G | CA380331513 | MYBPC3 | c.996G>C (p.Glu332Asp) c.978G>C (p.Glu326Asp) | |
| 11 | g.47346301C>T | CA474220921 | MYBPC3 | c.996G>A (p.Glu332=) c.978G>A (p.Glu326=) | |
| 11 | g.47346302T>A | CA380331515 | MYBPC3 | c.995A>T (p.Glu332Val) c.977A>T (p.Glu326Val) | |
| 11 | g.47346302T>C | CA380331517 | MYBPC3 | c.995A>G (p.Glu332Gly) c.977A>G (p.Glu326Gly) | |
| 11 | g.47346302T>G | CA380331519 | MYBPC3 | c.995A>C (p.Glu332Ala) c.977A>C (p.Glu326Ala) | |
| 11 | g.47346303C>A | CA16616724 | MYBPC3 | c.994G>T (p.Glu332Ter) c.976G>T (p.Glu326Ter) | |
| 11 | g.47346303C= | CA1969339637 | MYBPC3 | c.994G= (p.Glu332=) c.976G= (p.Glu326=) | |
| 11 | g.47346303C>G | CA380331523 | MYBPC3 | c.994G>C (p.Glu332Gln) c.976G>C (p.Glu326Gln) | |
| 11 | g.47346303C>T | CA016247 | MYBPC3 | c.994G>A (p.Glu332Lys) c.976G>A (p.Glu326Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346304A>C | CA474220927 | MYBPC3 | c.993T>G (p.Ser331=) c.975T>G (p.Ser325=) | |
| 11 | g.47346304A>G | CA474220928 | MYBPC3 | c.993T>C (p.Ser331=) c.975T>C (p.Ser325=) | |
| 11 | g.47346304A>T | CA474220929 | MYBPC3 | c.993T>A (p.Ser331=) c.975T>A (p.Ser325=) | |
| 11 | g.47346304dup | CA016238 | MYBPC3 | c.993dup (p.Glu332Ter) c.975dup (p.Glu326Ter) | ClinVar dbSNP |
| 11 | g.47346305G>A | CA380331530 | MYBPC3 | c.992C>T (p.Ser331Phe) c.974C>T (p.Ser325Phe) | |
| 11 | g.47346305G>C | CA380331533 | MYBPC3 | c.992C>G (p.Ser331Cys) c.974C>G (p.Ser325Cys) | |
| 11 | g.47346305G>T | CA380331535 | MYBPC3 | c.992C>A (p.Ser331Tyr) c.974C>A (p.Ser325Tyr) | |
| 11 | g.47346306A>C | CA380331540 | MYBPC3 | c.991T>G (p.Ser331Ala) c.973T>G (p.Ser325Ala) | |
| 11 | g.47346306A>G | CA380331548 | MYBPC3 | c.991T>C (p.Ser331Pro) c.973T>C (p.Ser325Pro) | |
| 11 | g.47346306A>T | CA380331554 | MYBPC3 | c.991T>A (p.Ser331Thr) c.973T>A (p.Ser325Thr) | |
| 11 | g.47346307T>A | CA474220934 | MYBPC3 | c.990A>T (p.Pro330=) c.972A>T (p.Pro324=) | |
| 11 | g.47346307T>C | CA474220936 | MYBPC3 | c.990A>G (p.Pro330=) c.972A>G (p.Pro324=) | |
| 11 | g.47346307T>G | CA474220932 | MYBPC3 | c.990A>C (p.Pro330=) c.972A>C (p.Pro324=) | ClinVar dbSNP |
| 11 | g.47346307T= | CA1969339642 | MYBPC3 | c.990A= (p.Pro330=) c.972A= (p.Pro324=) | |
| 11 | g.47346308G>A | CA380331558 | MYBPC3 | c.989C>T (p.Pro330Leu) c.971C>T (p.Pro324Leu) | gnomAD v4 |
| 11 | g.47346308G>C | CA380331572 | MYBPC3 | c.989C>G (p.Pro330Arg) c.971C>G (p.Pro324Arg) | |
| 11 | g.47346308G= | CA1969339644 | MYBPC3 | c.989C= (p.Pro330=) c.971C= (p.Pro324=) | |
| 11 | g.47346308G>T | CA380331569 | MYBPC3 | c.989C>A (p.Pro330Gln) c.971C>A (p.Pro324Gln) | dbSNP |
| 11 | g.47346312dup | CA2791323223 | MYBPC3 | c.989dup (p.Ser331IlefsTer2) c.971dup (p.Ser325IlefsTer2) | |
| 11 | g.47346312del | CA2573051156 | MYBPC3 | c.989del (p.Pro330HisfsTer20) c.971del (p.Pro324HisfsTer20) | ClinVar gnomAD v4 |
| 11 | g.47346309G>A | CA380331578 | MYBPC3 | c.988C>T (p.Pro330Ser) c.970C>T (p.Pro324Ser) | |
| 11 | g.47346309G>C | CA380331580 | MYBPC3 | c.988C>G (p.Pro330Ala) c.970C>G (p.Pro324Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346309G= | CA1969339646 | MYBPC3 | c.988C= (p.Pro330=) c.970C= (p.Pro324=) | |
| 11 | g.47346309G>T | CA380331581 | MYBPC3 | c.988C>A (p.Pro330Thr) c.970C>A (p.Pro324Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346310G>A | CA474220941 | MYBPC3 | c.987C>T (p.Pro329=) c.969C>T (p.Pro323=) | gnomAD v4 |
| 11 | g.47346310G>C | CA474220938 | MYBPC3 | c.987C>G (p.Pro329=) c.969C>G (p.Pro323=) | |
| 11 | g.47346310G>T | CA474220939 | MYBPC3 | c.987C>A (p.Pro329=) c.969C>A (p.Pro323=) | |
| 11 | g.47346311G>A | CA380331582 | MYBPC3 | c.986C>T (p.Pro329Leu) c.968C>T (p.Pro323Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346311G>C | CA380331586 | MYBPC3 | c.986C>G (p.Pro329Arg) c.968C>G (p.Pro323Arg) | |
| 11 | g.47346311G= | CA1969339648 | MYBPC3 | c.986C= (p.Pro329=) c.968C= (p.Pro323=) | |
| 11 | g.47346311G>T | CA380331590 | MYBPC3 | c.986C>A (p.Pro329His) c.968C>A (p.Pro323His) | COSMIC COSMIC |
| 11 | g.47346312G>A | CA380331597 | MYBPC3 | c.985C>T (p.Pro329Ser) c.967C>T (p.Pro323Ser) | dbSNP |
| 11 | g.47346312G>C | CA380331601 | MYBPC3 | c.985C>G (p.Pro329Ala) c.967C>G (p.Pro323Ala) | |
| 11 | g.47346312G= | CA1969339650 | MYBPC3 | c.985C= (p.Pro329=) c.967C= (p.Pro323=) | |
| 11 | g.47346312G>T | CA380331605 | MYBPC3 | c.985C>A (p.Pro329Thr) c.967C>A (p.Pro323Thr) | |
| 11 | g.47346313T>A | CA474220944 | MYBPC3 | c.984A>T (p.Ala328=) c.966A>T (p.Ala322=) | |
| 11 | g.47346313T>C | CA474220946 | MYBPC3 | c.984A>G (p.Ala328=) c.966A>G (p.Ala322=) | |
| 11 | g.47346313T>G | CA474220945 | MYBPC3 | c.984A>C (p.Ala328=) c.966A>C (p.Ala322=) | dbSNP |
| 11 | g.47346313T= | CA1969339654 | MYBPC3 | c.984A= (p.Ala328=) c.966A= (p.Ala322=) | |
| 11 | g.47346314G>A | CA380331643 | MYBPC3 | c.983C>T (p.Ala328Val) c.965C>T (p.Ala322Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.47346314G>C | CA380331621 | MYBPC3 | c.983C>G (p.Ala328Gly) c.965C>G (p.Ala322Gly) | gnomAD v4 |
| 11 | g.47346314G= | CA1969339656 | MYBPC3 | c.983C= (p.Ala328=) c.965C= (p.Ala322=) | |
| 11 | g.47346314G>T | CA380331608 | MYBPC3 | c.983C>A (p.Ala328Glu) c.965C>A (p.Ala322Glu) | |
| 11 | g.47346315C>A | CA380331651 | MYBPC3 | c.982G>T (p.Ala328Ser) c.964G>T (p.Ala322Ser) | |
| 11 | g.47346315C= | CA1969339657 | MYBPC3 | c.982G= (p.Ala328=) c.964G= (p.Ala322=) | |
| 11 | g.47346315C>G | CA380331656 | MYBPC3 | c.982G>C (p.Ala328Pro) c.964G>C (p.Ala322Pro) | gnomAD v4 |
| 11 | g.47346315C>T | CA380331662 | MYBPC3 | c.982G>A (p.Ala328Thr) c.964G>A (p.Ala322Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346316del | CA2613392581 | MYBPC3 | c.982del (p.Ala328HisfsTer22) c.964del (p.Ala322HisfsTer22) | gnomAD v4 |
| 11 | g.47346316C>A | CA380331669 | MYBPC3 | c.981G>T (p.Gln327His) c.963G>T (p.Gln321His) | |
| 11 | g.47346316C>G | CA380331673 | MYBPC3 | c.981G>C (p.Gln327His) c.963G>C (p.Gln321His) | |
| 11 | g.47346316C>T | CA474220953 | MYBPC3 | c.981G>A (p.Gln327=) c.963G>A (p.Gln321=) | |
| 11 | g.47346317T>A | CA380331678 | MYBPC3 | c.980A>T (p.Gln327Leu) c.962A>T (p.Gln321Leu) | |
| 11 | g.47346317T>C | CA380331680 | MYBPC3 | c.980A>G (p.Gln327Arg) c.962A>G (p.Gln321Arg) | |
| 11 | g.47346317T>G | CA380331684 | MYBPC3 | c.980A>C (p.Gln327Pro) c.962A>C (p.Gln321Pro) | |
| 11 | g.47346318G>A | CA016219 | MYBPC3 | c.979C>T (p.Gln327Ter) c.961C>T (p.Gln321Ter) | ClinVar dbSNP |
| 11 | g.47346318G>C | CA380331698 | MYBPC3 | c.979C>G (p.Gln327Glu) c.961C>G (p.Gln321Glu) | |
| 11 | g.47346318G= | CA1969339659 | MYBPC3 | c.979C= (p.Gln327=) c.961C= (p.Gln321=) | |
| 11 | g.47346318G>T | CA380331709 | MYBPC3 | c.979C>A (p.Gln327Lys) c.961C>A (p.Gln321Lys) | |
| 11 | g.47346318_47346319delinsGC | CA1969339660 | MYBPC3 | c.978_979delinsGC (p.Arg326=) c.960_961delinsGC (p.Arg320=) | |
| 11 | g.47346319C>A | CA474220956 | MYBPC3 | c.978G>T (p.Arg326=) c.960G>T (p.Arg320=) | ClinVar dbSNP |
| 11 | g.47346319C= | CA1969339662 | MYBPC3 | c.978G= (p.Arg326=) c.960G= (p.Arg320=) | |
| 11 | g.47346319C>G | CA474220958 | MYBPC3 | c.978G>C (p.Arg326=) c.960G>C (p.Arg320=) | |
| 11 | g.47346319C>T | CA474220957 | MYBPC3 | c.978G>A (p.Arg326=) c.960G>A (p.Arg320=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346320del | CA16619342 | MYBPC3 | c.978del (p.Gln327ArgfsTer23) c.960del (p.Gln321ArgfsTer23) | ClinVar dbSNP |
| 11 | g.47346320C>A | CA380331721 | MYBPC3 | c.977G>T (p.Arg326Leu) c.959G>T (p.Arg320Leu) | gnomAD v4 |
| 11 | g.47346320C= | CA1969339665 | MYBPC3 | c.977G= (p.Arg326=) c.959G= (p.Arg320=) | |
| 11 | g.47346320C>G | CA380331719 | MYBPC3 | c.977G>C (p.Arg326Pro) c.959G>C (p.Arg320Pro) | |
| 11 | g.47346320C>T | CA016212 | MYBPC3 | c.977G>A (p.Arg326Gln) c.959G>A (p.Arg320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346321G>A | CA057686 | MYBPC3 | c.976C>T (p.Arg326Trp) c.958C>T (p.Arg320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346321G>C | CA380331733 | MYBPC3 | c.976C>G (p.Arg326Gly) c.958C>G (p.Arg320Gly) | |
| 11 | g.47346321G= | CA1969339668 | MYBPC3 | c.976C= (p.Arg326=) c.958C= (p.Arg320=) | |
| 11 | g.47346321G>T | CA057680 | MYBPC3 | c.976C>A (p.Arg326=) c.958C>A (p.Arg320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346322T>A | CA474220959 | MYBPC3 | c.975A>T (p.Leu325=) c.957A>T (p.Leu319=) | |
| 11 | g.47346322T>C | CA474220962 | MYBPC3 | c.975A>G (p.Leu325=) c.957A>G (p.Leu319=) | |
| 11 | g.47346322T>G | CA474220961 | MYBPC3 | c.975A>C (p.Leu325=) c.957A>C (p.Leu319=) | |
| 11 | g.47346323A>C | CA380331742 | MYBPC3 | c.974T>G (p.Leu325Arg) c.956T>G (p.Leu319Arg) | |
| 11 | g.47346323A>G | CA380331753 | MYBPC3 | c.974T>C (p.Leu325Pro) c.956T>C (p.Leu319Pro) | |
| 11 | g.47346323A>T | CA380331768 | MYBPC3 | c.974T>A (p.Leu325Gln) c.956T>A (p.Leu319Gln) | |
| 11 | g.47346324G>A | CA474220963 | MYBPC3 | c.973C>T (p.Leu325=) c.955C>T (p.Leu319=) | |
| 11 | g.47346324G>C | CA380331772 | MYBPC3 | c.973C>G (p.Leu325Val) c.955C>G (p.Leu319Val) | |
| 11 | g.47346324G>T | CA380331804 | MYBPC3 | c.973C>A (p.Leu325Ile) c.955C>A (p.Leu319Ile) | |
| 11 | g.47346325G>A | CA474220964 | MYBPC3 | c.972C>T (p.Ile324=) c.954C>T (p.Ile318=) | gnomAD v4 |
| 11 | g.47346325G>C | CA380331808 | MYBPC3 | c.972C>G (p.Ile324Met) c.954C>G (p.Ile318Met) | |
| 11 | g.47346325G= | CA1969339670 | MYBPC3 | c.972C= (p.Ile324=) c.954C= (p.Ile318=) | |
| 11 | g.47346325G>T | CA474220965 | MYBPC3 | c.972C>A (p.Ile324=) c.954C>A (p.Ile318=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346326A>C | CA380331810 | MYBPC3 | c.971T>G (p.Ile324Ser) c.953T>G (p.Ile318Ser) | |
| 11 | g.47346326A>G | CA380331812 | MYBPC3 | c.971T>C (p.Ile324Thr) c.953T>C (p.Ile318Thr) | |
| 11 | g.47346326A>T | CA380331822 | MYBPC3 | c.971T>A (p.Ile324Asn) c.953T>A (p.Ile318Asn) | gnomAD v4 |
| 11 | g.47346327T>A | CA057666 | MYBPC3 | c.970A>T (p.Ile324Phe) c.952A>T (p.Ile318Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346327T>C | CA380331840 | MYBPC3 | c.970A>G (p.Ile324Val) c.952A>G (p.Ile318Val) | ClinVar dbSNP |
| 11 | g.47346327T>G | CA380331829 | MYBPC3 | c.970A>C (p.Ile324Leu) c.952A>C (p.Ile318Leu) | |
| 11 | g.47346327T= | CA1969339672 | MYBPC3 | c.970A= (p.Ile324=) c.952A= (p.Ile318=) | |
| 11 | g.47346328C>A | CA380331843 | MYBPC3 | c.969G>T (p.Glu323Asp) c.951G>T (p.Glu317Asp) | |
| 11 | g.47346328C>G | CA380331842 | MYBPC3 | c.969G>C (p.Glu323Asp) c.951G>C (p.Glu317Asp) | |
| 11 | g.47346328C>T | CA474220967 | MYBPC3 | c.969G>A (p.Glu323=) c.951G>A (p.Glu317=) | |
| 11 | g.47346329_47346331del | CA645578326 | MYBPC3 | c.967_969del (p.Glu323del) c.949_951del (p.Glu317del) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47346329T>A | CA380331847 | MYBPC3 | c.968A>T (p.Glu323Val) c.950A>T (p.Glu317Val) | |
| 11 | g.47346329T>C | CA380331850 | MYBPC3 | c.968A>G (p.Glu323Gly) c.950A>G (p.Glu317Gly) | |
| 11 | g.47346329T>G | CA380331853 | MYBPC3 | c.968A>C (p.Glu323Ala) c.950A>C (p.Glu317Ala) | |
| 11 | g.47346330C>A | CA380331861 | MYBPC3 | c.967G>T (p.Glu323Ter) c.949G>T (p.Glu317Ter) | |
| 11 | g.47346330C= | CA1969339674 | MYBPC3 | c.967G= (p.Glu323=) c.949G= (p.Glu317=) | |
| 11 | g.47346330C>G | CA380331864 | MYBPC3 | c.967G>C (p.Glu323Gln) c.949G>C (p.Glu317Gln) | |
| 11 | g.47346330C>T | CA380331866 | MYBPC3 | c.967G>A (p.Glu323Lys) c.949G>A (p.Glu317Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346331C>A | CA380331881 | MYBPC3 | c.966G>T (p.Trp322Cys) c.948G>T (p.Trp316Cys) | |
| 11 | g.47346331C= | CA1969339676 | MYBPC3 | c.966G= (p.Trp322=) c.948G= (p.Trp316=) | |
| 11 | g.47346331C>G | CA380331887 | MYBPC3 | c.966G>C (p.Trp322Cys) c.948G>C (p.Trp316Cys) | |
| 11 | g.47346331C>T | CA016205 | MYBPC3 | c.966G>A (p.Trp322Ter) c.948G>A (p.Trp316Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346332C>A | CA380331897 | MYBPC3 | c.965G>T (p.Trp322Leu) c.947G>T (p.Trp316Leu) | |
| 11 | g.47346332C>G | CA380331907 | MYBPC3 | c.965G>C (p.Trp322Ser) c.947G>C (p.Trp316Ser) | |
| 11 | g.47346332C>T | CA380331909 | MYBPC3 | c.965G>A (p.Trp322Ter) c.947G>A (p.Trp316Ter) | ClinVar dbSNP |
| 11 | g.47346333A= | CA1969339678 | MYBPC3 | c.964T= (p.Trp322=) c.946T= (p.Trp316=) | |
| 11 | g.47346333A>C | CA380331916 | MYBPC3 | c.964T>G (p.Trp322Gly) c.946T>G (p.Trp316Gly) | |
| 11 | g.47346333A>G | CA016197 | MYBPC3 | c.964T>C (p.Trp322Arg) c.946T>C (p.Trp316Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346333A>T | CA380331914 | MYBPC3 | c.964T>A (p.Trp322Arg) c.946T>A (p.Trp316Arg) | |
| 11 | g.47346334C>A | CA474220978 | MYBPC3 | c.963G>T (p.Val321=) c.945G>T (p.Val315=) | |
| 11 | g.47346334C= | CA1969339680 | MYBPC3 | c.963G= (p.Val321=) c.945G= (p.Val315=) | |
| 11 | g.47346334C>G | CA474220980 | MYBPC3 | c.963G>C (p.Val321=) c.945G>C (p.Val315=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346334C>T | CA474220981 | MYBPC3 | c.963G>A (p.Val321=) c.945G>A (p.Val315=) | |
| 11 | g.47346335A>C | CA380331920 | MYBPC3 | c.962T>G (p.Val321Gly) c.944T>G (p.Val315Gly) | |
| 11 | g.47346335A>G | CA380331921 | MYBPC3 | c.962T>C (p.Val321Ala) c.944T>C (p.Val315Ala) | |
| 11 | g.47346335A>T | CA380331922 | MYBPC3 | c.962T>A (p.Val321Glu) c.944T>A (p.Val315Glu) | |
| 11 | g.47346336C>A | CA380331923 | MYBPC3 | c.961G>T (p.Val321Leu) c.943G>T (p.Val315Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346336C= | CA1969339682 | MYBPC3 | c.961G= (p.Val321=) c.943G= (p.Val315=) | |
| 11 | g.47346336C>G | CA057659 | MYBPC3 | c.961G>C (p.Val321Leu) c.943G>C (p.Val315Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346336C>T | CA016189 | MYBPC3 | c.961G>A (p.Val321Met) c.943G>A (p.Val315Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346337G>A | CA016181 | MYBPC3 | c.960C>T (p.Asp320=) c.942C>T (p.Asp314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346337G>C | CA057630 | MYBPC3 | c.960C>G (p.Asp320Glu) c.942C>G (p.Asp314Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346337G= | CA1969339684 | MYBPC3 | c.960C= (p.Asp320=) c.942C= (p.Asp314=) | |
| 11 | g.47346337G>T | CA380331934 | MYBPC3 | c.960C>A (p.Asp320Glu) c.942C>A (p.Asp314Glu) | |
| 11 | g.47346338T>A | CA380331936 | MYBPC3 | c.959A>T (p.Asp320Val) c.941A>T (p.Asp314Val) | |
| 11 | g.47346338T>C | CA380331939 | MYBPC3 | c.959A>G (p.Asp320Gly) c.941A>G (p.Asp314Gly) | |
| 11 | g.47346338T>G | CA380331941 | MYBPC3 | c.959A>C (p.Asp320Ala) c.941A>C (p.Asp314Ala) | |
| 11 | g.47346343_47346345del | CA2574816324 | MYBPC3 | c.957_959del (p.Glu319del) c.939_941del (p.Glu313del) | gnomAD v4 |
| 11 | g.47346339C>A | CA380331980 | MYBPC3 | c.958G>T (p.Asp320Tyr) c.940G>T (p.Asp314Tyr) | |
| 11 | g.47346339C= | CA1969339686 | MYBPC3 | c.958G= (p.Asp320=) c.940G= (p.Asp314=) | |
| 11 | g.47346339C>G | CA380331972 | MYBPC3 | c.958G>C (p.Asp320His) c.940G>C (p.Asp314His) | |
| 11 | g.47346339C>T | CA380331957 | MYBPC3 | c.958G>A (p.Asp320Asn) c.940G>A (p.Asp314Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346340C>A | CA380331986 | MYBPC3 | c.957G>T (p.Glu319Asp) c.939G>T (p.Glu313Asp) | |
| 11 | g.47346340C>G | CA380331990 | MYBPC3 | c.957G>C (p.Glu319Asp) c.939G>C (p.Glu313Asp) | |
| 11 | g.47346340C>T | CA474220991 | MYBPC3 | c.957G>A (p.Glu319=) c.939G>A (p.Glu313=) | gnomAD v4 |
| 11 | g.47346341T>A | CA221700967 | MYBPC3 | c.956A>T (p.Glu319Val) c.938A>T (p.Glu313Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346341T>C | CA380332007 | MYBPC3 | c.956A>G (p.Glu319Gly) c.938A>G (p.Glu313Gly) | gnomAD v4 |
| 11 | g.47346341T>G | CA057623 | MYBPC3 | c.956A>C (p.Glu319Ala) c.938A>C (p.Glu313Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346341T= | CA1969339687 | MYBPC3 | c.956A= (p.Glu319=) c.938A= (p.Glu313=) | |
| 11 | g.47346342C>A | CA380332010 | MYBPC3 | c.955G>T (p.Glu319Ter) c.937G>T (p.Glu313Ter) | |
| 11 | g.47346342C>G | CA380332028 | MYBPC3 | c.955G>C (p.Glu319Gln) c.937G>C (p.Glu313Gln) | |
| 11 | g.47346342C>T | CA380332031 | MYBPC3 | c.955G>A (p.Glu319Lys) c.937G>A (p.Glu313Lys) | |
| 11 | g.47346343C>A | CA380332050 | MYBPC3 | c.954G>T (p.Glu318Asp) c.936G>T (p.Glu312Asp) | |
| 11 | g.47346343C= | CA1969339688 | MYBPC3 | c.954G= (p.Glu318=) c.936G= (p.Glu312=) | |
| 11 | g.47346343C>G | CA380332052 | MYBPC3 | c.954G>C (p.Glu318Asp) c.936G>C (p.Glu312Asp) | |
| 11 | g.47346343C>T | CA474220996 | MYBPC3 | c.954G>A (p.Glu318=) c.936G>A (p.Glu312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346344T>A | CA380332053 | MYBPC3 | c.953A>T (p.Glu318Val) c.935A>T (p.Glu312Val) | |
| 11 | g.47346344T>C | CA380332054 | MYBPC3 | c.953A>G (p.Glu318Gly) c.935A>G (p.Glu312Gly) | |
| 11 | g.47346344T>G | CA380332055 | MYBPC3 | c.953A>C (p.Glu318Ala) c.935A>C (p.Glu312Ala) | |
| 11 | g.47346345C>A | CA380332064 | MYBPC3 | c.952G>T (p.Glu318Ter) c.934G>T (p.Glu312Ter) | |
| 11 | g.47346345C>G | CA380332058 | MYBPC3 | c.952G>C (p.Glu318Gln) c.934G>C (p.Glu312Gln) | |
| 11 | g.47346345C>T | CA380332061 | MYBPC3 | c.952G>A (p.Glu318Lys) c.934G>A (p.Glu312Lys) | |
| 11 | g.47346346T>A | CA474221001 | MYBPC3 | c.951A>T (p.Ala317=) c.933A>T (p.Ala311=) | |
| 11 | g.47346346T>C | CA474221002 | MYBPC3 | c.951A>G (p.Ala317=) c.933A>G (p.Ala311=) | |
| 11 | g.47346346T>G | CA474221003 | MYBPC3 | c.951A>C (p.Ala317=) c.933A>C (p.Ala311=) | dbSNP |
| 11 | g.47346346T= | CA1969339690 | MYBPC3 | c.951A= (p.Ala317=) c.933A= (p.Ala311=) | |
| 11 | g.47346347G>A | CA380332067 | MYBPC3 | c.950C>T (p.Ala317Val) c.932C>T (p.Ala311Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346347G>C | CA380332079 | MYBPC3 | c.950C>G (p.Ala317Gly) c.932C>G (p.Ala311Gly) | |
| 11 | g.47346347G= | CA1969339691 | MYBPC3 | c.950C= (p.Ala317=) c.932C= (p.Ala311=) | |
| 11 | g.47346347G>T | CA380332083 | MYBPC3 | c.950C>A (p.Ala317Glu) c.932C>A (p.Ala311Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346348C>A | CA380332098 | MYBPC3 | c.949G>T (p.Ala317Ser) c.931G>T (p.Ala311Ser) | gnomAD v4 |
| 11 | g.47346348C= | CA1969339693 | MYBPC3 | c.949G= (p.Ala317=) c.931G= (p.Ala311=) | |
| 11 | g.47346348C>G | CA380332104 | MYBPC3 | c.949G>C (p.Ala317Pro) c.931G>C (p.Ala311Pro) | |
| 11 | g.47346348C>T | CA057597 | MYBPC3 | c.949G>A (p.Ala317Thr) c.931G>A (p.Ala311Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346349T>A | CA474221004 | MYBPC3 | c.948A>T (p.Pro316=) c.930A>T (p.Pro310=) | |
| 11 | g.47346349T>C | CA474221005 | MYBPC3 | c.948A>G (p.Pro316=) c.930A>G (p.Pro310=) | |
| 11 | g.47346349T>G | CA474221006 | MYBPC3 | c.948A>C (p.Pro316=) c.930A>C (p.Pro310=) | |
| 11 | g.47346350G>A | CA380332107 | MYBPC3 | c.947C>T (p.Pro316Leu) c.929C>T (p.Pro310Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346350G>C | CA380332108 | MYBPC3 | c.947C>G (p.Pro316Arg) c.929C>G (p.Pro310Arg) | dbSNP |
| 11 | g.47346350G= | CA1969339694 | MYBPC3 | c.947C= (p.Pro316=) c.929C= (p.Pro310=) | |
| 11 | g.47346350G>T | CA380332109 | MYBPC3 | c.947C>A (p.Pro316Gln) c.929C>A (p.Pro310Gln) | gnomAD v4 |
| 11 | g.47346351G>A | CA380332113 | MYBPC3 | c.946C>T (p.Pro316Ser) c.928C>T (p.Pro310Ser) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47346351G>C | CA380332142 | MYBPC3 | c.946C>G (p.Pro316Ala) c.928C>G (p.Pro310Ala) | |
| 11 | g.47346351G= | CA1969339696 | MYBPC3 | c.946C= (p.Pro316=) c.928C= (p.Pro310=) | |
| 11 | g.47346351G>T | CA380332159 | MYBPC3 | c.946C>A (p.Pro316Thr) c.928C>A (p.Pro310Thr) | ClinVar dbSNP |
| 11 | g.47346352T>A | CA474221011 | MYBPC3 | c.945A>T (p.Ala315=) c.927A>T (p.Ala309=) | ClinVar dbSNP |
| 11 | g.47346352T>C | CA474221012 | MYBPC3 | c.945A>G (p.Ala315=) c.927A>G (p.Ala309=) | |
| 11 | g.47346352T>G | CA474221013 | MYBPC3 | c.945A>C (p.Ala315=) c.927A>C (p.Ala309=) | |
| 11 | g.47346353G>A | CA380332163 | MYBPC3 | c.944C>T (p.Ala315Val) c.926C>T (p.Ala309Val) | gnomAD v4 |
| 11 | g.47346353G>C | CA380332162 | MYBPC3 | c.944C>G (p.Ala315Gly) c.926C>G (p.Ala309Gly) | |
| 11 | g.47346353G>T | CA380332161 | MYBPC3 | c.944C>A (p.Ala315Glu) c.926C>A (p.Ala309Glu) | gnomAD v4 |
| 11 | g.47346354_47346365del | CA2791323235 | MYBPC3 | c.933_944del (p.Lys312_Ala315del) c.915_926del (p.Lys306_Ala309del) | |
| 11 | g.47346354C>A | CA221700994 | MYBPC3 | c.943G>T (p.Ala315Ser) c.925G>T (p.Ala309Ser) | dbSNP gnomAD v4 |
| 11 | g.47346354C= | CA1969339697 | MYBPC3 | c.943G= (p.Ala315=) c.925G= (p.Ala309=) | |
| 11 | g.47346354C>G | CA380332176 | MYBPC3 | c.943G>C (p.Ala315Pro) c.925G>C (p.Ala309Pro) | |
| 11 | g.47346354C>T | CA380332175 | MYBPC3 | c.943G>A (p.Ala315Thr) c.925G>A (p.Ala309Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346354_47346355dup | CA2574816328 | MYBPC3 | c.942_943dup (p.Ala315GlyfsTer?) c.924_925dup (p.Ala309GlyfsTer?) | |
| 11 | g.47346355C>A | CA380332179 | MYBPC3 | c.942G>T (p.Glu314Asp) c.924G>T (p.Glu308Asp) | ClinVar gnomAD v4 |
| 11 | g.47346355C= | CA1969339698 | MYBPC3 | c.942G= (p.Glu314=) c.924G= (p.Glu308=) | |
| 11 | g.47346355C>G | CA380332183 | MYBPC3 | c.942G>C (p.Glu314Asp) c.924G>C (p.Glu308Asp) | |
| 11 | g.47346355C>T | CA474221020 | MYBPC3 | c.942G>A (p.Glu314=) c.924G>A (p.Glu308=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346356T>A | CA380332185 | MYBPC3 | c.941A>T (p.Glu314Val) c.923A>T (p.Glu308Val) | |
| 11 | g.47346356T>C | CA380332188 | MYBPC3 | c.941A>G (p.Glu314Gly) c.923A>G (p.Glu308Gly) | |
| 11 | g.47346356T>G | CA380332190 | MYBPC3 | c.941A>C (p.Glu314Ala) c.923A>C (p.Glu308Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346356T= | CA1969339699 | MYBPC3 | c.941A= (p.Glu314=) c.923A= (p.Glu308=) | |
| 11 | g.47346357C>A | CA380332205 | MYBPC3 | c.940G>T (p.Glu314Ter) c.922G>T (p.Glu308Ter) | |
| 11 | g.47346357C>G | CA380332206 | MYBPC3 | c.940G>C (p.Glu314Gln) c.922G>C (p.Glu308Gln) | |
| 11 | g.47346357C>T | CA380332208 | MYBPC3 | c.940G>A (p.Glu314Lys) c.922G>A (p.Glu308Lys) | |
| 11 | g.47346358C>A | CA474221026 | MYBPC3 | c.939G>T (p.Leu313=) c.921G>T (p.Leu307=) | |
| 11 | g.47346358C>G | CA474221024 | MYBPC3 | c.939G>C (p.Leu313=) c.921G>C (p.Leu307=) | |
| 11 | g.47346358C>T | CA474221025 | MYBPC3 | c.939G>A (p.Leu313=) c.921G>A (p.Leu307=) | |
| 11 | g.47346359A>C | CA380332211 | MYBPC3 | c.938T>G (p.Leu313Arg) c.920T>G (p.Leu307Arg) | |
| 11 | g.47346359A>G | CA380332212 | MYBPC3 | c.938T>C (p.Leu313Pro) c.920T>C (p.Leu307Pro) | |
| 11 | g.47346359A>T | CA380332215 | MYBPC3 | c.938T>A (p.Leu313Gln) c.920T>A (p.Leu307Gln) | |
| 11 | g.47346360G>A | CA474221031 | MYBPC3 | c.937C>T (p.Leu313=) c.919C>T (p.Leu307=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346360G>C | CA380332223 | MYBPC3 | c.937C>G (p.Leu313Val) c.919C>G (p.Leu307Val) | |
| 11 | g.47346360G= | CA1969339700 | MYBPC3 | c.937C= (p.Leu313=) c.919C= (p.Leu307=) | |
| 11 | g.47346360G>T | CA380332225 | MYBPC3 | c.937C>A (p.Leu313Met) c.919C>A (p.Leu307Met) | gnomAD v4 |
| 11 | g.47346361C>A | CA380332227 | MYBPC3 | c.936G>T (p.Lys312Asn) c.918G>T (p.Lys306Asn) | dbSNP gnomAD v4 |
| 11 | g.47346361C= | CA1969339701 | MYBPC3 | c.936G= (p.Lys312=) c.918G= (p.Lys306=) | |
| 11 | g.47346361C>G | CA380332229 | MYBPC3 | c.936G>C (p.Lys312Asn) c.918G>C (p.Lys306Asn) | |
| 11 | g.47346361C>T | CA474221032 | MYBPC3 | c.936G>A (p.Lys312=) c.918G>A (p.Lys306=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346362T>A | CA380332232 | MYBPC3 | c.935A>T (p.Lys312Met) c.917A>T (p.Lys306Met) | |
| 11 | g.47346362T>C | CA380332237 | MYBPC3 | c.935A>G (p.Lys312Arg) c.917A>G (p.Lys306Arg) | dbSNP |
| 11 | g.47346362T>G | CA380332234 | MYBPC3 | c.935A>C (p.Lys312Thr) c.917A>C (p.Lys306Thr) | |
| 11 | g.47346362T= | CA1969339702 | MYBPC3 | c.935A= (p.Lys312=) c.917A= (p.Lys306=) | |
| 11 | g.47346363T>A | CA380332240 | MYBPC3 | c.934A>T (p.Lys312Ter) c.916A>T (p.Lys306Ter) | |
| 11 | g.47346363T>C | CA380332242 | MYBPC3 | c.934A>G (p.Lys312Glu) c.916A>G (p.Lys306Glu) | |
| 11 | g.47346363T>G | CA380332245 | MYBPC3 | c.934A>C (p.Lys312Gln) c.916A>C (p.Lys306Gln) | |
| 11 | g.47346364C>A | CA474221035 | MYBPC3 | c.933G>T (p.Ser311=) c.915G>T (p.Ser305=) | |
| 11 | g.47346364C= | CA1969339703 | MYBPC3 | c.933G= (p.Ser311=) c.915G= (p.Ser305=) | |
| 11 | g.47346364C>G | CA016162 | MYBPC3 | c.933G>C (p.Ser311=) c.915G>C (p.Ser305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346364C>T | CA016154 | MYBPC3 | c.933G>A (p.Ser311=) c.915G>A (p.Ser305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47346365G>A | CA016150 | MYBPC3 | c.932C>T (p.Ser311Leu) c.914C>T (p.Ser305Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346365G>C | CA380332251 | MYBPC3 | c.932C>G (p.Ser311Trp) c.914C>G (p.Ser305Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346365G= | CA1969339704 | MYBPC3 | c.932C= (p.Ser311=) c.914C= (p.Ser305=) | |
| 11 | g.47346365G>T | CA016142 | MYBPC3 | c.932C>A (p.Ser311Ter) c.914C>A (p.Ser305Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346366A= | CA1969339705 | MYBPC3 | c.931T= (p.Ser311=) c.913T= (p.Ser305=) | |
| 11 | g.47346366A>C | CA380332255 | MYBPC3 | c.931T>G (p.Ser311Ala) c.913T>G (p.Ser305Ala) | |
| 11 | g.47346366A>G | CA380332257 | MYBPC3 | c.931T>C (p.Ser311Pro) c.913T>C (p.Ser305Pro) | ClinVar dbSNP |
| 11 | g.47346366A>T | CA016136 | MYBPC3 | c.931T>A (p.Ser311Thr) c.913T>A (p.Ser305Thr) | ClinVar dbSNP |
| 11 | g.47346367G>A | CA474221041 | MYBPC3 | c.930C>T (p.Asp310=) c.912C>T (p.Asp304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346367G>C | CA380332263 | MYBPC3 | c.930C>G (p.Asp310Glu) c.912C>G (p.Asp304Glu) | |
| 11 | g.47346367G= | CA1969339706 | MYBPC3 | c.930C= (p.Asp310=) c.912C= (p.Asp304=) | |
| 11 | g.47346367G>T | CA380332261 | MYBPC3 | c.930C>A (p.Asp310Glu) c.912C>A (p.Asp304Glu) | gnomAD v4 |
| 11 | g.47346368T>A | CA380332266 | MYBPC3 | c.929A>T (p.Asp310Val) c.911A>T (p.Asp304Val) | |
| 11 | g.47346368T>C | CA380332269 | MYBPC3 | c.929A>G (p.Asp310Gly) c.911A>G (p.Asp304Gly) | ClinVar dbSNP |
| 11 | g.47346368T>G | CA380332271 | MYBPC3 | c.929A>C (p.Asp310Ala) c.911A>C (p.Asp304Ala) | |
| 11 | g.47346368T= | CA1969339708 | MYBPC3 | c.929A= (p.Asp310=) c.911A= (p.Asp304=) | |
| 11 | g.47346368_47346370delinsTCC | CA1969339707 | MYBPC3 | c.927_929delinsGGA (p.Arg309=) c.909_911delinsGGA (p.Glu303=) | |
| 11 | g.47346368_47346378delinsTCCCTGTGTCC | CA1969339709 | MYBPC3 | c.927-8_929delinsGGACACAGGGA c.909-8_911delinsGGACACAGGGA | |
| 11 | g.47346369C>A | CA380332274 | MYBPC3 | c.928G>T (p.Asp310Tyr) c.910G>T (p.Asp304Tyr) | gnomAD v4 |
| 11 | g.47346369C= | CA1969339710 | MYBPC3 | c.928G= (p.Asp310=) c.910G= (p.Asp304=) | |
| 11 | g.47346369C>G | CA380332275 | MYBPC3 | c.928G>C (p.Asp310His) c.910G>C (p.Asp304His) | |
| 11 | g.47346369C>T | CA380332276 | MYBPC3 | c.928G>A (p.Asp310Asn) c.910G>A (p.Asp304Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346370_47346371del | CA10586355 | MYBPC3 | c.927_928del c.909_910del | ClinVar dbSNP |
| 11 | g.47346370_47346379del | CA599374479 | MYBPC3 | c.927-8_928del c.909-8_910del | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346370C>A | CA380332277 | MYBPC3 | c.927G>T (p.Arg309Ser) c.909G>T (p.Glu303Asp) | gnomAD v4 |
| 11 | g.47346370C= | CA1969339711 | MYBPC3 | c.927G= (p.Arg309=) c.909G= (p.Glu303=) | |
| 11 | g.47346370C>G | CA380332278 | MYBPC3 | c.927G>C (p.Arg309Ser) c.909G>C (p.Glu303Asp) | |
| 11 | g.47346370C>T | CA474221048 | MYBPC3 | c.927G>A (p.Arg309=) c.909G>A (p.Glu303=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346371C>A | CA380332281 | MYBPC3 | c.927-1G>T (n.927-1G>T) c.909-1G>T (n.909-1G>T) | gnomAD v4 |
| 11 | g.47346371C= | CA1969339712 | MYBPC3 | c.927-1G= (n.927-1G=) c.909-1G= (n.909-1G=) | |
| 11 | g.47346371C>G | CA380332284 | MYBPC3 | c.927-1G>C (n.927-1G>C) c.909-1G>C (n.909-1G>C) | ClinVar dbSNP |
| 11 | g.47346371C>T | CA380332286 | MYBPC3 | c.927-1G>A (n.927-1G>A) c.909-1G>A (n.909-1G>A) | COSMIC |
| 11 | g.47346372T>A | CA380332288 | MYBPC3 | c.927-2A>T (n.927-2A>T) c.909-2A>T (n.909-2A>T) | |
| 11 | g.47346372T>C | CA016121 | MYBPC3 | c.927-2A>G (n.927-2A>G) c.909-2A>G (n.909-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346372T>G | CA380332287 | MYBPC3 | c.927-2A>C (n.927-2A>C) c.909-2A>C (n.909-2A>C) | COSMIC COSMIC |
| 11 | g.47346372T= | CA1969339713 | MYBPC3 | c.927-2A= (n.927-2A=) c.909-2A= (n.909-2A=) | |
| 11 | g.47346373G>A | CA057565 | MYBPC3 | c.927-3C>T (n.927-3C>T) c.909-3C>T (n.909-3C>T) | dbSNP ExAC gnomAD v4 |
| 11 | g.47346373G>C | CA2580084176 | MYBPC3 | c.927-3C>G (n.927-3C>G) c.909-3C>G (n.909-3C>G) | ClinVar |
| 11 | g.47346373G= | CA1969339714 | MYBPC3 | c.927-3C= (n.927-3C=) c.909-3C= (n.909-3C=) | |
| 11 | g.47346374T>C | CA2574816329 | MYBPC3 | c.927-4A>G (n.927-4A>G) c.909-4A>G (n.909-4A>G) | |
| 11 | g.47346375G>T | CA2613392611 | MYBPC3 | c.927-5C>A (n.927-5C>A) c.909-5C>A (n.909-5C>A) | gnomAD v4 |
| 11 | g.47346376T>C | CA599374480 | MYBPC3 | c.927-6A>G (n.927-6A>G) c.909-6A>G (n.909-6A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346376T= | CA1969339715 | MYBPC3 | c.927-6A= (n.927-6A=) c.909-6A= (n.909-6A=) | |
| 11 | g.47346377C>A | CA10638738 | MYBPC3 | c.927-7G>T (n.927-7G>T) c.909-7G>T (n.909-7G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346377C= | CA1969339716 | MYBPC3 | c.927-7G= (n.927-7G=) c.909-7G= (n.909-7G=) | |
| 11 | g.47346377C>G | CA2613392614 | MYBPC3 | c.927-7G>C (n.927-7G>C) c.909-7G>C (n.909-7G>C) | gnomAD v4 |
| 11 | g.47346378C>A | CA2613392618 | MYBPC3 | c.927-8G>T (n.927-8G>T) c.909-8G>T (n.909-8G>T) | gnomAD v4 |
| 11 | g.47346378C= | CA1969339717 | MYBPC3 | c.927-8G= (n.927-8G=) c.909-8G= (n.909-8G=) | |
| 11 | g.47346378C>T | CA677003783 | MYBPC3 | c.927-8G>A (n.927-8G>A) c.909-8G>A (n.909-8G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346379C>A | CA2613392623 | MYBPC3 | c.927-9G>T (n.927-9G>T) c.909-9G>T (n.909-9G>T) | gnomAD v4 |
| 11 | g.47346379C= | CA1969339718 | MYBPC3 | c.927-9G= (n.927-9G=) c.909-9G= (n.909-9G=) | |
| 11 | g.47346379C>T | CA016127 | MYBPC3 | c.927-9G>A (n.927-9G>A) c.909-9G>A (n.909-9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346380G>A | CA10631017 | MYBPC3 | c.927-10C>T (n.927-10C>T) c.909-10C>T (n.909-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346380G>C | CA16606329 | MYBPC3 | c.927-10C>G (n.927-10C>G) c.909-10C>G (n.909-10C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346380G= | CA1969339719 | MYBPC3 | c.927-10C= (n.927-10C=) c.909-10C= (n.909-10C=) | |
| 11 | g.47346380G>T | CA016112 | MYBPC3 | c.927-10C>A (n.927-10C>A) c.909-10C>A (n.909-10C>A) | ClinVar dbSNP |
| 11 | g.47346381C>A | CA1139661937 | MYBPC3 | c.927-11G>T (n.927-11G>T) c.909-11G>T (n.909-11G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346381C= | CA1969339720 | MYBPC3 | c.927-11G= (n.927-11G=) c.909-11G= (n.909-11G=) | |
| 11 | g.47346381_47346382delinsCA | CA1969339721 | MYBPC3 | c.927-12_927-11delinsTG (n.927-12_927-11delinsTG) c.909-12_909-11delinsTG (n.909-12_909-11delinsTG) | |
| 11 | g.47346382del | CA937657288 | MYBPC3 | c.927-12del (n.927-12del) c.909-12del (n.909-12del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346382A= | CA1969339723 | MYBPC3 | c.927-12T= (n.927-12T=) c.909-12T= (n.909-12T=) | |
| 11 | g.47346382A>C | CA2580084177 | MYBPC3 | c.927-12T>G (n.927-12T>G) c.909-12T>G (n.909-12T>G) | ClinVar gnomAD v4 |
| 11 | g.47346382A>G | CA1969339722 | MYBPC3 | c.927-12T>C (n.927-12T>C) c.909-12T>C (n.909-12T>C) | dbSNP |
| 11 | g.47346383G>A | CA2613392635 | MYBPC3 | c.927-13C>T (n.927-13C>T) c.909-13C>T (n.909-13C>T) | gnomAD v4 |
| 11 | g.47346383G>C | CA2739265953 | MYBPC3 | c.927-13C>G (n.927-13C>G) c.909-13C>G (n.909-13C>G) | ClinVar |
| 11 | g.47346385C>A | CA2613392636 | MYBPC3 | c.927-15G>T (n.927-15G>T) c.909-15G>T (n.909-15G>T) | gnomAD v4 |
| 11 | g.47346385C>G | CA2613392637 | MYBPC3 | c.927-15G>C (n.927-15G>C) c.909-15G>C (n.909-15G>C) | gnomAD v4 |
| 11 | g.47346388G>T | CA2613392638 | MYBPC3 | c.927-18C>A (n.927-18C>A) c.909-18C>A (n.909-18C>A) | gnomAD v4 |
| 11 | g.47346389G>A | CA1969339725 | MYBPC3 | c.927-19C>T (n.927-19C>T) c.909-19C>T (n.909-19C>T) | dbSNP gnomAD v4 |
| 11 | g.47346389G= | CA1969339724 | MYBPC3 | c.927-19C= (n.927-19C=) c.909-19C= (n.909-19C=) | |
| 11 | g.47346389G>T | CA2613392640 | MYBPC3 | c.927-19C>A (n.927-19C>A) c.909-19C>A (n.909-19C>A) | gnomAD v4 |
| 11 | g.47346390C>A | CA2613392641 | MYBPC3 | c.927-20G>T (n.927-20G>T) c.909-20G>T (n.909-20G>T) | gnomAD v4 |
| 11 | g.47346390C= | CA1969339726 | MYBPC3 | c.927-20G= (n.927-20G=) c.909-20G= (n.909-20G=) | |
| 11 | g.47346390C>T | CA599374481 | MYBPC3 | c.927-20G>A (n.927-20G>A) c.909-20G>A (n.909-20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346391T>C | CA2613392642 | MYBPC3 | c.927-21A>G (n.927-21A>G) c.909-21A>G (n.909-21A>G) | gnomAD v4 |
| 11 | g.47346392G>A | CA057530 | MYBPC3 | c.927-22C>T (n.927-22C>T) c.909-22C>T (n.909-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346392G= | CA1969339727 | MYBPC3 | c.927-22C= (n.927-22C=) c.909-22C= (n.909-22C=) | |
| 11 | g.47346392G>T | CA2613392644 | MYBPC3 | c.927-22C>A (n.927-22C>A) c.909-22C>A (n.909-22C>A) | gnomAD v4 |