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.47332078C>A | CA16619330 | MYBPC3 | c.3808G>T (p.Val1270Leu) c.3790G>T (p.Val1264Leu) c.3727G>T (p.Val1243Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47332078C= | CA1969333203 | MYBPC3 | c.3808G= (p.Val1270=) c.3790G= (p.Val1264=) c.3727G= (p.Val1243=) | |
11 | g.47332078C>G | CA380310385 | MYBPC3 | c.3808G>C (p.Val1270Leu) c.3790G>C (p.Val1264Leu) c.3727G>C (p.Val1243Leu) | |
11 | g.47332078C>T | CA380310387 | MYBPC3 | c.3808G>A (p.Val1270Met) c.3790G>A (p.Val1264Met) c.3727G>A (p.Val1243Met) | ClinVar dbSNP gnomAD v4 |
11 | g.47332079C>A | CA380310391 | MYBPC3 | c.3807G>T (p.Glu1269Asp) c.3789G>T (p.Glu1263Asp) c.3726G>T (p.Glu1242Asp) | |
11 | g.47332079C>G | CA380310394 | MYBPC3 | c.3807G>C (p.Glu1269Asp) c.3789G>C (p.Glu1263Asp) c.3726G>C (p.Glu1242Asp) | gnomAD v4 |
11 | g.47332079C>T | CA474428813 | MYBPC3 | c.3807G>A (p.Glu1269=) c.3789G>A (p.Glu1263=) c.3726G>A (p.Glu1242=) | gnomAD v4 |
11 | g.47332080T>A | CA380310398 | MYBPC3 | c.3806A>T (p.Glu1269Val) c.3788A>T (p.Glu1263Val) c.3725A>T (p.Glu1242Val) | |
11 | g.47332080T>C | CA380310403 | MYBPC3 | c.3806A>G (p.Glu1269Gly) c.3788A>G (p.Glu1263Gly) c.3725A>G (p.Glu1242Gly) | |
11 | g.47332080T>G | CA380310401 | MYBPC3 | c.3806A>C (p.Glu1269Ala) c.3788A>C (p.Glu1263Ala) c.3725A>C (p.Glu1242Ala) | |
11 | g.47332081C>A | CA380310407 | MYBPC3 | c.3805G>T (p.Glu1269Ter) c.3787G>T (p.Glu1263Ter) c.3724G>T (p.Glu1242Ter) | ClinVar |
11 | g.47332081C>G | CA380310409 | MYBPC3 | c.3805G>C (p.Glu1269Gln) c.3787G>C (p.Glu1263Gln) c.3724G>C (p.Glu1242Gln) | |
11 | g.47332081C>T | CA380310412 | MYBPC3 | c.3805G>A (p.Glu1269Lys) c.3787G>A (p.Glu1263Lys) c.3724G>A (p.Glu1242Lys) | gnomAD v4 |
11 | g.47332082C>A | CA474428814 | MYBPC3 | c.3804G>T (p.Leu1268=) c.3786G>T (p.Leu1262=) c.3723G>T (p.Leu1241=) | |
11 | g.47332082C>G | CA474428815 | MYBPC3 | c.3804G>C (p.Leu1268=) c.3786G>C (p.Leu1262=) c.3723G>C (p.Leu1241=) | |
11 | g.47332082C>T | CA474428816 | MYBPC3 | c.3804G>A (p.Leu1268=) c.3786G>A (p.Leu1262=) c.3723G>A (p.Leu1241=) | |
11 | g.47332083A= | CA1969333205 | MYBPC3 | c.3803T= (p.Leu1268=) c.3785T= (p.Leu1262=) c.3722T= (p.Leu1241=) | |
11 | g.47332083A>C | CA380310416 | MYBPC3 | c.3803T>G (p.Leu1268Arg) c.3785T>G (p.Leu1262Arg) c.3722T>G (p.Leu1241Arg) | |
11 | g.47332083A>G | CA014947 | MYBPC3 | c.3803T>C (p.Leu1268Pro) c.3785T>C (p.Leu1262Pro) c.3722T>C (p.Leu1241Pro) | ClinVar dbSNP |
11 | g.47332083A>T | CA380310419 | MYBPC3 | c.3803T>A (p.Leu1268Gln) c.3785T>A (p.Leu1262Gln) c.3722T>A (p.Leu1241Gln) | |
11 | g.47332083_47332086delinsAGGC | CA1969333204 | MYBPC3 | c.3800_3803delinsGCCT (p.Arg1267=) c.3782_3785delinsGCCT (p.Arg1261=) c.3719_3722delinsGCCT (p.Arg1240=) | |
11 | g.47332084G>A | CA474428817 | MYBPC3 | c.3802C>T (p.Leu1268=) c.3784C>T (p.Leu1262=) c.3721C>T (p.Leu1241=) | |
11 | g.47332084G>C | CA380310421 | MYBPC3 | c.3802C>G (p.Leu1268Val) c.3784C>G (p.Leu1262Val) c.3721C>G (p.Leu1241Val) | ClinVar dbSNP |
11 | g.47332084G= | CA1969333209 | MYBPC3 | c.3802C= (p.Leu1268=) c.3784C= (p.Leu1262=) c.3721C= (p.Leu1241=) | |
11 | g.47332084G>T | CA380310424 | MYBPC3 | c.3802C>A (p.Leu1268Met) c.3784C>A (p.Leu1262Met) c.3721C>A (p.Leu1241Met) | |
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.47332085G>A | CA079552 | MYBPC3 | c.3801C>T (p.Arg1267=) c.3783C>T (p.Arg1261=) c.3720C>T (p.Arg1240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332085G>C | CA474428818 | MYBPC3 | c.3801C>G (p.Arg1267=) c.3783C>G (p.Arg1261=) c.3720C>G (p.Arg1240=) | |
11 | g.47332085G= | CA1969333211 | MYBPC3 | c.3801C= (p.Arg1267=) c.3783C= (p.Arg1261=) c.3720C= (p.Arg1240=) | |
11 | g.47332085G>T | CA474428819 | MYBPC3 | c.3801C>A (p.Arg1267=) c.3783C>A (p.Arg1261=) c.3720C>A (p.Arg1240=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332086C>A | CA380310432 | MYBPC3 | c.3800G>T (p.Arg1267Leu) c.3782G>T (p.Arg1261Leu) c.3719G>T (p.Arg1240Leu) | |
11 | g.47332086C= | CA1969333213 | MYBPC3 | c.3800G= (p.Arg1267=) c.3782G= (p.Arg1261=) c.3719G= (p.Arg1240=) | |
11 | g.47332086C>G | CA380310434 | MYBPC3 | c.3800G>C (p.Arg1267Pro) c.3782G>C (p.Arg1261Pro) c.3719G>C (p.Arg1240Pro) | gnomAD v4 |
11 | g.47332086C>T | CA014937 | MYBPC3 | c.3800G>A (p.Arg1267His) c.3782G>A (p.Arg1261His) c.3719G>A (p.Arg1240His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332086_47332087delinsCG | CA1969333214 | MYBPC3 | c.3799_3800delinsCG (p.Arg1267=) c.3781_3782delinsCG (p.Arg1261=) c.3718_3719delinsCG (p.Arg1240=) | |
11 | g.47332087G>A | CA079549 | MYBPC3 | c.3799C>T (p.Arg1267Cys) c.3781C>T (p.Arg1261Cys) c.3718C>T (p.Arg1240Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332087G>C | CA380310441 | MYBPC3 | c.3799C>G (p.Arg1267Gly) c.3781C>G (p.Arg1261Gly) c.3718C>G (p.Arg1240Gly) | ClinVar |
11 | g.47332087G= | CA1969333217 | MYBPC3 | c.3799C= (p.Arg1267=) c.3781C= (p.Arg1261=) c.3718C= (p.Arg1240=) | |
11 | g.47332087G>T | CA380310438 | MYBPC3 | c.3799C>A (p.Arg1267Ser) c.3781C>A (p.Arg1261Ser) c.3718C>A (p.Arg1240Ser) | |
11 | g.47332088del | CA915948127 | MYBPC3 | c.3799del (p.Arg1267AlafsTer?) c.3781del (p.Arg1261AlafsTer?) c.3718del (p.Arg1240AlafsTer?) | ClinVar dbSNP |
11 | g.47332088G>A | CA055003 | MYBPC3 | c.3798C>T (p.Cys1266=) c.3780C>T (p.Cys1260=) c.3717C>T (p.Cys1239=) | ClinVar |
11 | g.47332088G>C | CA380310448 | MYBPC3 | c.3798C>G (p.Cys1266Trp) c.3780C>G (p.Cys1260Trp) c.3717C>G (p.Cys1239Trp) | ClinVar dbSNP gnomAD v4 |
11 | g.47332088G= | CA1969333219 | MYBPC3 | c.3798C= (p.Cys1266=) c.3780C= (p.Cys1260=) c.3717C= (p.Cys1239=) | |
11 | g.47332088G>T | CA380310449 | MYBPC3 | c.3798C>A (p.Cys1266Ter) c.3780C>A (p.Cys1260Ter) c.3717C>A (p.Cys1239Ter) | |
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 |