Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332066_47332090delinsCCTCACCTCGCACCTCCAGGCGGCA | CA1969333181 | MYBPC3 | c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG c.3778_3796+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG c.3715_3733+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG | |
11 | g.47332072_47332095del | CA599057723 | MYBPC3 | c.3796_3814+5del c.3778_3796+5del c.3715_3733+5del | dbSNP gnomAD v2 gnomAD v4 |
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.47332087_47332089del | CA014933 | MYBPC3 | c.3800_3802del (p.Arg1267del) c.3782_3784del (p.Arg1261del) c.3719_3721del (p.Arg1240del) | ClinVar dbSNP gnomAD v4 |
11 | g.47332089del | CA2739291457 | MYBPC3 | c.3797del (p.Cys1266SerfsTer?) c.3779del (p.Cys1260SerfsTer?) c.3716del (p.Cys1239SerfsTer?) | |
11 | g.47332089C>A | CA380310450 | MYBPC3 | c.3797G>T (p.Cys1266Phe) c.3779G>T (p.Cys1260Phe) c.3716G>T (p.Cys1239Phe) | ClinVar |
11 | g.47332089C= | CA1969333220 | MYBPC3 | c.3797G= (p.Cys1266=) c.3779G= (p.Cys1260=) c.3716G= (p.Cys1239=) | |
11 | g.47332089C>G | CA380310453 | MYBPC3 | c.3797G>C (p.Cys1266Ser) c.3779G>C (p.Cys1260Ser) c.3716G>C (p.Cys1239Ser) | |
11 | g.47332089C>T | CA014925 | MYBPC3 | c.3797G>A (p.Cys1266Tyr) c.3779G>A (p.Cys1260Tyr) c.3716G>A (p.Cys1239Tyr) | ClinVar dbSNP |
11 | g.47332090A= | CA1969333224 | MYBPC3 | c.3796T= (p.Cys1266=) c.3778T= (p.Cys1260=) c.3715T= (p.Cys1239=) | |
11 | g.47332090A>C | CA380310460 | MYBPC3 | c.3796T>G (p.Cys1266Gly) c.3778T>G (p.Cys1260Gly) c.3715T>G (p.Cys1239Gly) | |
11 | g.47332090A>G | CA014917 | MYBPC3 | c.3796T>C (p.Cys1266Arg) c.3778T>C (p.Cys1260Arg) c.3715T>C (p.Cys1239Arg) | ClinVar dbSNP |
11 | g.47332090A>T | CA380310464 | MYBPC3 | c.3796T>A (p.Cys1266Ser) c.3778T>A (p.Cys1260Ser) c.3715T>A (p.Cys1239Ser) | |
11 | g.47332090_47332092delinsACT | CA1969333223 | MYBPC3 | c.3794_3796delinsAGT (p.Glu1265=) c.3776_3778delinsAGT (p.Glu1259=) c.3713_3715delinsAGT (p.Glu1238=) | |
11 | g.47332090_47332092delinsGCA | CA1139659379 | MYBPC3 | c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg) c.3776_3778delinsTGC (p.Glu1259_Cys1260delinsValArg) c.3713_3715delinsTGC (p.Glu1238_Cys1239delinsValArg) | ClinVar dbSNP |
11 | g.47332091C>A | CA380310468 | MYBPC3 | c.3795G>T (p.Glu1265Asp) c.3777G>T (p.Glu1259Asp) c.3714G>T (p.Glu1238Asp) | |
11 | g.47332091C>G | CA380310469 | MYBPC3 | c.3795G>C (p.Glu1265Asp) c.3777G>C (p.Glu1259Asp) c.3714G>C (p.Glu1238Asp) | |
11 | g.47332091C>T | CA474428820 | MYBPC3 | c.3795G>A (p.Glu1265=) c.3777G>A (p.Glu1259=) c.3714G>A (p.Glu1238=) | gnomAD v4 |
11 | g.47332092T>A | CA014911 | MYBPC3 | c.3794A>T (p.Glu1265Val) c.3776A>T (p.Glu1259Val) c.3713A>T (p.Glu1238Val) | ClinVar dbSNP |
11 | g.47332092T>C | CA380310475 | MYBPC3 | c.3794A>G (p.Glu1265Gly) c.3776A>G (p.Glu1259Gly) c.3713A>G (p.Glu1238Gly) | |
11 | g.47332092T>G | CA380310478 | MYBPC3 | c.3794A>C (p.Glu1265Ala) c.3776A>C (p.Glu1259Ala) c.3713A>C (p.Glu1238Ala) | |
11 | g.47332092T= | CA1969333226 | MYBPC3 | c.3794A= (p.Glu1265=) c.3776A= (p.Glu1259=) c.3713A= (p.Glu1238=) | |
11 | g.47332093C>A | CA380310484 | MYBPC3 | c.3793G>T (p.Glu1265Ter) c.3775G>T (p.Glu1259Ter) c.3712G>T (p.Glu1238Ter) | |
11 | g.47332093C= | CA1969333228 | MYBPC3 | c.3793G= (p.Glu1265=) c.3775G= (p.Glu1259=) c.3712G= (p.Glu1238=) | |
11 | g.47332093C>G | CA380310483 | MYBPC3 | c.3793G>C (p.Glu1265Gln) c.3775G>C (p.Glu1259Gln) c.3712G>C (p.Glu1238Gln) | |
11 | g.47332093C>T | CA079547 | MYBPC3 | c.3793G>A (p.Glu1265Lys) c.3775G>A (p.Glu1259Lys) c.3712G>A (p.Glu1238Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332096_47332097del | CA645369136 | MYBPC3 | c.3792_3793del (p.Cys1264Ter) c.3774_3775del (p.Cys1258Ter) c.3711_3712del (p.Cys1237Ter) | |
11 | g.47332093_47332104delinsCACACCGTGCCT | CA1969333230 | MYBPC3 | c.3782_3793delinsAGGCACGGTGTG (p.Glu1261=) c.3764_3775delinsAGGCACGGTGTG (p.Glu1255=) c.3701_3712delinsAGGCACGGTGTG (p.Glu1234=) | |
11 | g.47332094A>C | CA380310487 | MYBPC3 | c.3792T>G (p.Cys1264Trp) c.3774T>G (p.Cys1258Trp) c.3711T>G (p.Cys1237Trp) | |
11 | g.47332094A>G | CA474428821 | MYBPC3 | c.3792T>C (p.Cys1264=) c.3774T>C (p.Cys1258=) c.3711T>C (p.Cys1237=) | |
11 | g.47332094A>T | CA380310489 | MYBPC3 | c.3792T>A (p.Cys1264Ter) c.3774T>A (p.Cys1258Ter) c.3711T>A (p.Cys1237Ter) | |
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.47332095C>A | CA014908 | MYBPC3 | c.3791G>T (p.Cys1264Phe) c.3773G>T (p.Cys1258Phe) c.3710G>T (p.Cys1237Phe) | ClinVar dbSNP |
11 | g.47332095C= | CA1969333235 | MYBPC3 | c.3791G= (p.Cys1264=) c.3773G= (p.Cys1258=) c.3710G= (p.Cys1237=) | |
11 | g.47332095C>G | CA380310495 | MYBPC3 | c.3791G>C (p.Cys1264Ser) c.3773G>C (p.Cys1258Ser) c.3710G>C (p.Cys1237Ser) | |
11 | g.47332095C>T | CA014899 | MYBPC3 | c.3791G>A (p.Cys1264Tyr) c.3773G>A (p.Cys1258Tyr) c.3710G>A (p.Cys1237Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332096A>C | CA380310500 | MYBPC3 | c.3790T>G (p.Cys1264Gly) c.3772T>G (p.Cys1258Gly) c.3709T>G (p.Cys1237Gly) | |
11 | g.47332096A>G | CA380310502 | MYBPC3 | c.3790T>C (p.Cys1264Arg) c.3772T>C (p.Cys1258Arg) c.3709T>C (p.Cys1237Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47332096A>T | CA380310505 | MYBPC3 | c.3790T>A (p.Cys1264Ser) c.3772T>A (p.Cys1258Ser) c.3709T>A (p.Cys1237Ser) | |
11 | g.47332097C>A | CA474428822 | MYBPC3 | c.3789G>T (p.Arg1263=) c.3771G>T (p.Arg1257=) c.3708G>T (p.Arg1236=) | gnomAD v4 |
11 | g.47332097C>G | CA474428824 | MYBPC3 | c.3789G>C (p.Arg1263=) c.3771G>C (p.Arg1257=) c.3708G>C (p.Arg1236=) | |
11 | g.47332097C>T | CA474428823 | MYBPC3 | c.3789G>A (p.Arg1263=) c.3771G>A (p.Arg1257=) c.3708G>A (p.Arg1236=) | |
11 | g.47332098C>A | CA380310507 | MYBPC3 | c.3788G>T (p.Arg1263Leu) c.3770G>T (p.Arg1257Leu) c.3707G>T (p.Arg1236Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332098C= | CA1969333243 | MYBPC3 | c.3788G= (p.Arg1263=) c.3770G= (p.Arg1257=) c.3707G= (p.Arg1236=) | |
11 | g.47332098C>G | CA380310509 | MYBPC3 | c.3788G>C (p.Arg1263Pro) c.3770G>C (p.Arg1257Pro) c.3707G>C (p.Arg1236Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332098C>T | CA054961 | MYBPC3 | c.3788G>A (p.Arg1263Gln) c.3770G>A (p.Arg1257Gln) c.3707G>A (p.Arg1236Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |