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.47346291T>A | CA042000 | MYBPC3 | c.1006A>T (p.Ile336Phe) c.988A>T (p.Ile330Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346291T>C | CA380331451 | MYBPC3 | c.1006A>G (p.Ile336Val) c.988A>G (p.Ile330Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47346291T>G | CA380331453 | MYBPC3 | c.1006A>C (p.Ile336Leu) c.988A>C (p.Ile330Leu) | |
11 | g.47346291T= | CA1969339620 | MYBPC3 | c.1006A= (p.Ile336=) c.988A= (p.Ile330=) | |
11 | g.47346292G>A | CA474220910 | MYBPC3 | c.1005C>T (p.Arg335=) c.987C>T (p.Arg329=) | |
11 | g.47346292G>C | CA474220908 | MYBPC3 | c.1005C>G (p.Arg335=) c.987C>G (p.Arg329=) | |
11 | g.47346292G>T | CA474220909 | MYBPC3 | c.1005C>A (p.Arg335=) c.987C>A (p.Arg329=) | |
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=) |