Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351299_47351306delinsATCCCTGG | CA1969342635 | MYBPC3 | c.225_232delinsCCAGGGAT (p.Asp75=) | |
11 | g.47351302_47351308del | CA676993760 | MYBPC3 | c.225_231del (p.Gln76LeufsTer18) | dbSNP |
11 | g.47351304_47351308dup | CA2695214004 | MYBPC3 | c.224_228dup (p.Gly77ThrfsTer21) | |
11 | g.47351309_47351310insCAGATCTGGTCG | CA2613402097 | MYBPC3 | c.228_229insATCTGCGACCAG (p.Gln76_Gly77insIleCysAspGln) | gnomAD v4 |
11 | g.47351305G>A | CA380341677 | MYBPC3 | c.226C>T (p.Gln76Ter) | ClinVar dbSNP |
11 | g.47351305G>C | CA380341678 | MYBPC3 | c.226C>G (p.Gln76Glu) | |
11 | g.47351305G= | CA1969342640 | MYBPC3 | c.226C= (p.Gln76=) | |
11 | g.47351305G>T | CA380341679 | MYBPC3 | c.226C>A (p.Gln76Lys) | |
11 | g.47351306G>A | CA474429630 | MYBPC3 | c.225C>T (p.Asp75=) | gnomAD v4 |
11 | g.47351306G>C | CA380341680 | MYBPC3 | c.225C>G (p.Asp75Glu) | ClinVar dbSNP |
11 | g.47351306G= | CA1969342641 | MYBPC3 | c.225C= (p.Asp75=) | |
11 | g.47351306G>T | CA380341681 | MYBPC3 | c.225C>A (p.Asp75Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351307T>A | CA380341682 | MYBPC3 | c.224A>T (p.Asp75Val) | gnomAD v4 |
11 | g.47351307T>C | CA380341683 | MYBPC3 | c.224A>G (p.Asp75Gly) | gnomAD v4 |
11 | g.47351307T>G | CA380341684 | MYBPC3 | c.224A>C (p.Asp75Ala) | |
11 | g.47351307T= | CA1969342642 | MYBPC3 | c.224A= (p.Asp75=) | |
11 | g.47351308C>A | CA380341685 | MYBPC3 | c.223G>T (p.Asp75Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351308C= | CA1969342643 | MYBPC3 | c.223G= (p.Asp75=) | |
11 | g.47351308C>G | CA380341686 | MYBPC3 | c.223G>C (p.Asp75His) | |
11 | g.47351308C>T | CA011926 | MYBPC3 | c.223G>A (p.Asp75Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351308dup | CA1139661949 | MYBPC3 | c.223dup (p.Asp75GlyfsTer?) | ClinVar dbSNP |
11 | g.47351309G>A | CA221708686 | MYBPC3 | c.222C>T (p.Ala74=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351309G>C | CA474429632 | MYBPC3 | c.222C>G (p.Ala74=) | |
11 | g.47351309G= | CA1969342644 | MYBPC3 | c.222C= (p.Ala74=) | |
11 | g.47351309G>T | CA474429633 | MYBPC3 | c.222C>A (p.Ala74=) | gnomAD v4 |
11 | g.47351309_47351310delinsGG | CA1969342645 | MYBPC3 | c.221_222delinsCC (p.Ala74=) | |
11 | g.47351310G>A | CA380341688 | MYBPC3 | c.221C>T (p.Ala74Val) | gnomAD v4 |
11 | g.47351310G>C | CA380341689 | MYBPC3 | c.221C>G (p.Ala74Gly) | |
11 | g.47351310G= | CA1969342646 | MYBPC3 | c.221C= (p.Ala74=) | |
11 | g.47351310G>T | CA380341687 | MYBPC3 | c.221C>A (p.Ala74Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47351310delinsAA | CA658797648 | MYBPC3 | c.221delinsTT (p.Ala74ValfsTer?) | ClinVar dbSNP |
11 | g.47351311C>A | CA380341690 | MYBPC3 | c.220G>T (p.Ala74Ser) | gnomAD v4 |
11 | g.47351311C= | CA1969342647 | MYBPC3 | c.220G= (p.Ala74=) | |
11 | g.47351311C>G | CA380341691 | MYBPC3 | c.220G>C (p.Ala74Pro) | |
11 | g.47351311C>T | CA380341692 | MYBPC3 | c.220G>A (p.Ala74Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.47351312A>C | CA474429634 | MYBPC3 | c.219T>G (p.Pro73=) | |
11 | g.47351312A>G | CA474429635 | MYBPC3 | c.219T>C (p.Pro73=) | |
11 | g.47351312A>T | CA474429636 | MYBPC3 | c.219T>A (p.Pro73=) | |
11 | g.47351313G>A | CA380341693 | MYBPC3 | c.218C>T (p.Pro73Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351313G>C | CA380341694 | MYBPC3 | c.218C>G (p.Pro73Arg) | |
11 | g.47351313G= | CA1969342648 | MYBPC3 | c.218C= (p.Pro73=) | |
11 | g.47351313G>T | CA380341695 | MYBPC3 | c.218C>A (p.Pro73His) | gnomAD v4 |
11 | g.47351315del | CA2580084276 | MYBPC3 | c.218del (p.Pro73LeufsTer23) | ClinVar |
11 | g.47351314G>A | CA380341696 | MYBPC3 | c.217C>T (p.Pro73Ser) | |
11 | g.47351314G>C | CA380341697 | MYBPC3 | c.217C>G (p.Pro73Ala) | |
11 | g.47351314G>T | CA380341698 | MYBPC3 | c.217C>A (p.Pro73Thr) | |
11 | g.47351314_47351315insCC | CA2695214005 | MYBPC3 | c.216_217insGG (p.Pro73GlyfsTer24) | |
11 | g.47351315G>A | CA048602 | MYBPC3 | c.216C>T (p.Gly72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47351315G>C | CA474429640 | MYBPC3 | c.216C>G (p.Gly72=) | |
11 | g.47351315G= | CA1969342649 | MYBPC3 | c.216C= (p.Gly72=) |