Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332076_47332099del | CA2739291456 | MYBPC3 | c.3789_3812del (p.Cys1264_Arg1271del) c.3771_3794del (p.Cys1258_Arg1265del) c.3708_3731del (p.Cys1237_Arg1244del) | |
11 | g.47332093_47332104delinsCACACCGTGCCT | CA1969333230 | MYBPC3 | c.3782_3793delinsAGGCACGGTGTG (p.Glu1261=) c.3764_3775delinsAGGCACGGTGTG (p.Glu1255=) c.3701_3712delinsAGGCACGGTGTG (p.Glu1234=) | |
11 | g.47332094_47332104delinsCAGG | CA645294065 | MYBPC3 | c.3782_3792delinsCCTG (p.Glu1261AlafsTer?) c.3764_3774delinsCCTG (p.Glu1255AlafsTer?) c.3701_3711delinsCCTG (p.Glu1234AlafsTer?) | ClinVar dbSNP |
11 | g.47332099del | CA2580084168 | MYBPC3 | c.3787del (p.Arg1263GlyfsTer?) c.3769del (p.Arg1257GlyfsTer?) c.3706del (p.Arg1236GlyfsTer?) | ClinVar |
11 | g.47332099G>A | CA014891 | MYBPC3 | c.3787C>T (p.Arg1263Trp) c.3769C>T (p.Arg1257Trp) c.3706C>T (p.Arg1236Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332099G>C | CA380310515 | MYBPC3 | c.3787C>G (p.Arg1263Gly) c.3769C>G (p.Arg1257Gly) c.3706C>G (p.Arg1236Gly) | |
11 | g.47332099G= | CA1969333251 | MYBPC3 | c.3787C= (p.Arg1263=) c.3769C= (p.Arg1257=) c.3706C= (p.Arg1236=) | |
11 | g.47332099G>T | CA474428825 | MYBPC3 | c.3787C>A (p.Arg1263=) c.3769C>A (p.Arg1257=) c.3706C>A (p.Arg1236=) | |
11 | g.47332100T>A | CA474428826 | MYBPC3 | c.3786A>T (p.Ala1262=) c.3768A>T (p.Ala1256=) c.3705A>T (p.Ala1235=) | |
11 | g.47332100T>C | CA474428827 | MYBPC3 | c.3786A>G (p.Ala1262=) c.3768A>G (p.Ala1256=) c.3705A>G (p.Ala1235=) | |
11 | g.47332100T>G | CA474428828 | MYBPC3 | c.3786A>C (p.Ala1262=) c.3768A>C (p.Ala1256=) c.3705A>C (p.Ala1235=) | |
11 | g.47332101G>A | CA380310523 | MYBPC3 | c.3785C>T (p.Ala1262Val) c.3767C>T (p.Ala1256Val) c.3704C>T (p.Ala1235Val) | ClinVar dbSNP |
11 | g.47332101G>C | CA380310519 | MYBPC3 | c.3785C>G (p.Ala1262Gly) c.3767C>G (p.Ala1256Gly) c.3704C>G (p.Ala1235Gly) | |
11 | g.47332101G= | CA1969333255 | MYBPC3 | c.3785C= (p.Ala1262=) c.3767C= (p.Ala1256=) c.3704C= (p.Ala1235=) | |
11 | g.47332101G>T | CA380310521 | MYBPC3 | c.3785C>A (p.Ala1262Glu) c.3767C>A (p.Ala1256Glu) c.3704C>A (p.Ala1235Glu) | |
11 | g.47332104_47332108del | CA2695213890 | MYBPC3 | c.3781_3785del (p.Glu1261ThrfsTer3) c.3763_3767del (p.Glu1255ThrfsTer3) c.3700_3704del (p.Glu1234ThrfsTer3) | |
11 | g.47332102C>A | CA380310528 | MYBPC3 | c.3784G>T (p.Ala1262Ser) c.3766G>T (p.Ala1256Ser) c.3703G>T (p.Ala1235Ser) | |
11 | g.47332102C>G | CA380310529 | MYBPC3 | c.3784G>C (p.Ala1262Pro) c.3766G>C (p.Ala1256Pro) c.3703G>C (p.Ala1235Pro) | |
11 | g.47332102C>T | CA380310530 | MYBPC3 | c.3784G>A (p.Ala1262Thr) c.3766G>A (p.Ala1256Thr) c.3703G>A (p.Ala1235Thr) | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.47332103_47332105dup | CA2580615672 | MYBPC3 | c.3782_3784dup (p.Glu1261_Ala1262insGlu) c.3764_3766dup (p.Glu1255_Ala1256insGlu) c.3701_3703dup (p.Glu1234_Ala1235insGlu) | ClinVar |
11 | g.47332103C>A | CA380310533 | MYBPC3 | c.3783G>T (p.Glu1261Asp) c.3765G>T (p.Glu1255Asp) c.3702G>T (p.Glu1234Asp) | |
11 | g.47332103C= | CA1969333260 | MYBPC3 | c.3783G= (p.Glu1261=) c.3765G= (p.Glu1255=) c.3702G= (p.Glu1234=) | |
11 | g.47332103C>G | CA380310536 | MYBPC3 | c.3783G>C (p.Glu1261Asp) c.3765G>C (p.Glu1255Asp) c.3702G>C (p.Glu1234Asp) | |
11 | g.47332103C>T | CA221681738 | MYBPC3 | c.3783G>A (p.Glu1261=) c.3765G>A (p.Glu1255=) c.3702G>A (p.Glu1234=) | ClinVar dbSNP |
11 | g.47332104T>A | CA380310540 | MYBPC3 | c.3782A>T (p.Glu1261Val) c.3764A>T (p.Glu1255Val) c.3701A>T (p.Glu1234Val) | |
11 | g.47332104T>C | CA380310543 | MYBPC3 | c.3782A>G (p.Glu1261Gly) c.3764A>G (p.Glu1255Gly) c.3701A>G (p.Glu1234Gly) | |
11 | g.47332104T>G | CA380310555 | MYBPC3 | c.3782A>C (p.Glu1261Ala) c.3764A>C (p.Glu1255Ala) c.3701A>C (p.Glu1234Ala) | |
11 | g.47332105C>A | CA380310562 | MYBPC3 | c.3781G>T (p.Glu1261Ter) c.3763G>T (p.Glu1255Ter) c.3700G>T (p.Glu1234Ter) | ClinVar dbSNP |
11 | g.47332105C= | CA1969333265 | MYBPC3 | c.3781G= (p.Glu1261=) c.3763G= (p.Glu1255=) c.3700G= (p.Glu1234=) | |
11 | g.47332105C>G | CA380310565 | MYBPC3 | c.3781G>C (p.Glu1261Gln) c.3763G>C (p.Glu1255Gln) c.3700G>C (p.Glu1234Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.47332105C>T | CA014880 | MYBPC3 | c.3781G>A (p.Glu1261Lys) c.3763G>A (p.Glu1255Lys) c.3700G>A (p.Glu1234Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332106G>A | CA079541 | MYBPC3 | c.3780C>T (p.Gly1260=) c.3762C>T (p.Gly1254=) c.3699C>T (p.Gly1233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332106G>C | CA474428829 | MYBPC3 | c.3780C>G (p.Gly1260=) c.3762C>G (p.Gly1254=) c.3699C>G (p.Gly1233=) | |
11 | g.47332106G= | CA1969333277 | MYBPC3 | c.3780C= (p.Gly1260=) c.3762C= (p.Gly1254=) c.3699C= (p.Gly1233=) | |
11 | g.47332106G>T | CA474428830 | MYBPC3 | c.3780C>A (p.Gly1260=) c.3762C>A (p.Gly1254=) c.3699C>A (p.Gly1233=) | |
11 | g.47332107C>A | CA380310574 | MYBPC3 | c.3779G>T (p.Gly1260Val) c.3761G>T (p.Gly1254Val) c.3698G>T (p.Gly1233Val) | |
11 | g.47332107C= | CA1969333283 | MYBPC3 | c.3779G= (p.Gly1260=) c.3761G= (p.Gly1254=) c.3698G= (p.Gly1233=) | |
11 | g.47332107C>G | CA380310587 | MYBPC3 | c.3779G>C (p.Gly1260Ala) c.3761G>C (p.Gly1254Ala) c.3698G>C (p.Gly1233Ala) | |
11 | g.47332107C>T | CA014871 | MYBPC3 | c.3779G>A (p.Gly1260Asp) c.3761G>A (p.Gly1254Asp) c.3698G>A (p.Gly1233Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332109del | CA2580084169 | MYBPC3 | c.3779del (p.Gly1260AlafsTer?) c.3761del (p.Gly1254AlafsTer?) c.3698del (p.Gly1233AlafsTer?) | ClinVar |
11 | g.47332108C>A | CA380310592 | MYBPC3 | c.3778G>T (p.Gly1260Cys) c.3760G>T (p.Gly1254Cys) c.3697G>T (p.Gly1233Cys) | |
11 | g.47332108C= | CA1969333290 | MYBPC3 | c.3778G= (p.Gly1260=) c.3760G= (p.Gly1254=) c.3697G= (p.Gly1233=) | |
11 | g.47332108C>G | CA380310595 | MYBPC3 | c.3778G>C (p.Gly1260Arg) c.3760G>C (p.Gly1254Arg) c.3697G>C (p.Gly1233Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47332108C>T | CA054928 | MYBPC3 | c.3778G>A (p.Gly1260Ser) c.3760G>A (p.Gly1254Ser) c.3697G>A (p.Gly1233Ser) | gnomAD v4 |
11 | g.47332109C>A | CA380310605 | MYBPC3 | c.3777G>T (p.Gln1259His) c.3759G>T (p.Gln1253His) c.3696G>T (p.Gln1232His) | |
11 | g.47332109C= | CA1969333302 | MYBPC3 | c.3777G= (p.Gln1259=) c.3759G= (p.Gln1253=) c.3696G= (p.Gln1232=) | |
11 | g.47332109C>G | CA079539 | MYBPC3 | c.3777G>C (p.Gln1259His) c.3759G>C (p.Gln1253His) c.3696G>C (p.Gln1232His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332109C>T | CA079537 | MYBPC3 | c.3777G>A (p.Gln1259=) c.3759G>A (p.Gln1253=) c.3696G>A (p.Gln1232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332109_47332110delinsCT | CA1969333300 | MYBPC3 | c.3776_3777delinsAG (p.Gln1259=) c.3758_3759delinsAG (p.Gln1253=) c.3695_3696delinsAG (p.Gln1232=) |