Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351347_47351357del | CA011058 | MYBPC3 | c.177_187del (p.Glu60AlafsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47351356T>A | CA380341775 | MYBPC3 | c.175A>T (p.Thr59Ser) | |
11 | g.47351356T>C | CA011043 | MYBPC3 | c.175A>G (p.Thr59Ala) | ClinVar dbSNP |
11 | g.47351356T>G | CA380341776 | MYBPC3 | c.175A>C (p.Thr59Pro) | |
11 | g.47351356T= | CA1969342677 | MYBPC3 | c.175A= (p.Thr59=) | |
11 | g.47351357G>A | CA474429712 | MYBPC3 | c.174C>T (p.Ala58=) | |
11 | g.47351357G>C | CA474429713 | MYBPC3 | c.174C>G (p.Ala58=) | |
11 | g.47351357G>T | CA474429714 | MYBPC3 | c.174C>A (p.Ala58=) | |
11 | g.47351361_47351365del | CA2695214008 | MYBPC3 | c.170_174del (p.Leu57HisfsTer?) | |
11 | g.47351358G>A | CA380341777 | MYBPC3 | c.173C>T (p.Ala58Val) | |
11 | g.47351358G>C | CA380341778 | MYBPC3 | c.173C>G (p.Ala58Gly) | |
11 | g.47351358G>T | CA380341779 | MYBPC3 | c.173C>A (p.Ala58Asp) | |
11 | g.47351358_47351359delinsGC | CA1969342678 | MYBPC3 | c.172_173delinsGC (p.Ala58=) | |
11 | g.47351359C>A | CA380341780 | MYBPC3 | c.172G>T (p.Ala58Ser) | gnomAD v4 |
11 | g.47351359C>G | CA380341781 | MYBPC3 | c.172G>C (p.Ala58Pro) | |
11 | g.47351359C>T | CA380341782 | MYBPC3 | c.172G>A (p.Ala58Thr) | gnomAD v4 |
11 | g.47351360del | CA011009 | MYBPC3 | c.172del (p.Ala58ProfsTer9) | ClinVar dbSNP |
11 | g.47351360C>A | CA474429721 | MYBPC3 | c.171G>T (p.Leu57=) | |
11 | g.47351360C>G | CA474429720 | MYBPC3 | c.171G>C (p.Leu57=) | |
11 | g.47351360C>T | CA474429719 | MYBPC3 | c.171G>A (p.Leu57=) | gnomAD v4 |
11 | g.47351361A= | CA1969342679 | MYBPC3 | c.170T= (p.Leu57=) | |
11 | g.47351361A>C | CA380341783 | MYBPC3 | c.170T>G (p.Leu57Arg) | |
11 | g.47351361A>G | CA380341784 | MYBPC3 | c.170T>C (p.Leu57Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351361A>T | CA380341785 | MYBPC3 | c.170T>A (p.Leu57Gln) | |
11 | g.47351362G>A | CA474429725 | MYBPC3 | c.169C>T (p.Leu57=) | |
11 | g.47351362G>C | CA380341787 | MYBPC3 | c.169C>G (p.Leu57Val) | |
11 | g.47351362G>T | CA380341786 | MYBPC3 | c.169C>A (p.Leu57Met) | |
11 | g.47351363G>A | CA474429727 | MYBPC3 | c.168C>T (p.Gly56=) | gnomAD v4 |
11 | g.47351363G>C | CA474429728 | MYBPC3 | c.168C>G (p.Gly56=) | |
11 | g.47351363G>T | CA474429729 | MYBPC3 | c.168C>A (p.Gly56=) | |
11 | g.47351364C>A | CA380341788 | MYBPC3 | c.167G>T (p.Gly56Val) | |
11 | g.47351364C>G | CA380341789 | MYBPC3 | c.167G>C (p.Gly56Ala) | |
11 | g.47351364C>T | CA380341790 | MYBPC3 | c.167G>A (p.Gly56Asp) | dbSNP |
11 | g.47351365C>A | CA380341791 | MYBPC3 | c.166G>T (p.Gly56Cys) | gnomAD v4 |
11 | g.47351365C= | CA1969342680 | MYBPC3 | c.166G= (p.Gly56=) | |
11 | g.47351365C>G | CA380341792 | MYBPC3 | c.166G>C (p.Gly56Arg) | |
11 | g.47351365C>T | CA010889 | MYBPC3 | c.166G>A (p.Gly56Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47351366G>A | CA046351 | MYBPC3 | c.165C>T (p.Tyr55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351366G>C | CA380341793 | MYBPC3 | c.165C>G (p.Tyr55Ter) | |
11 | g.47351366G= | CA1969342681 | MYBPC3 | c.165C= (p.Tyr55=) | |
11 | g.47351366G>T | CA380341794 | MYBPC3 | c.165C>A (p.Tyr55Ter) | ClinVar dbSNP |
11 | g.47351367T>A | CA380341795 | MYBPC3 | c.164A>T (p.Tyr55Phe) | gnomAD v4 |
11 | g.47351367T>C | CA380341796 | MYBPC3 | c.164A>G (p.Tyr55Cys) | ClinVar |
11 | g.47351367T>G | CA380341797 | MYBPC3 | c.164A>C (p.Tyr55Ser) | |
11 | g.47351368A>C | CA380341800 | MYBPC3 | c.163T>G (p.Tyr55Asp) | |
11 | g.47351368A>G | CA380341799 | MYBPC3 | c.163T>C (p.Tyr55His) | |
11 | g.47351368A>T | CA380341798 | MYBPC3 | c.163T>A (p.Tyr55Asn) | |
11 | g.47351368_47351369delinsAC | CA1969342682 | MYBPC3 | c.162_163delinsGT (p.Lys54=) | |
11 | g.47351369del | CA348352 | MYBPC3 | c.162del (p.Lys54AsnfsTer13) | ClinVar dbSNP gnomAD v4 |
11 | g.47351369C>A | CA380341801 | MYBPC3 | c.162G>T (p.Lys54Asn) |