Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47332117_47332120del | CA2573146355 | MYBPC3 | c.3768_3771del (p.Asn1257TyrfsTer?) c.3750_3753del (p.Asn1251TyrfsTer?) c.3687_3690del (p.Asn1230TyrfsTer?) | ClinVar dbSNP |
11 | g.47332116_47332119delinsTTGG | CA1969333340 | MYBPC3 | c.3767_3770delinsCCAA (p.Thr1256=) c.3749_3752delinsCCAA (p.Thr1250=) c.3686_3689delinsCCAA (p.Thr1229=) | |
11 | g.47332120_47332122del | CA014829 | MYBPC3 | c.3767_3769del (p.Thr1256del) c.3749_3751del (p.Thr1250del) c.3686_3688del (p.Thr1229del) | ClinVar dbSNP gnomAD v4 |
11 | g.47332118G>A | CA474428835 | MYBPC3 | c.3768C>T (p.Thr1256=) c.3750C>T (p.Thr1250=) c.3687C>T (p.Thr1229=) | |
11 | g.47332118G>C | CA474428836 | MYBPC3 | c.3768C>G (p.Thr1256=) c.3750C>G (p.Thr1250=) c.3687C>G (p.Thr1229=) | ClinVar |
11 | g.47332118G= | CA1969333346 | MYBPC3 | c.3768C= (p.Thr1256=) c.3750C= (p.Thr1250=) c.3687C= (p.Thr1229=) | |
11 | g.47332118G>T | CA474428834 | MYBPC3 | c.3768C>A (p.Thr1256=) c.3750C>A (p.Thr1250=) c.3687C>A (p.Thr1229=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332118_47332119del | CA2695213892 | MYBPC3 | c.3767_3768del (p.Thr1256LysfsTer9) c.3749_3750del (p.Thr1250LysfsTer9) c.3686_3687del (p.Thr1229LysfsTer9) | |
11 | g.47332119G>A | CA055192 | MYBPC3 | c.3767C>T (p.Thr1256Ile) c.3749C>T (p.Thr1250Ile) c.3686C>T (p.Thr1229Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332119G>C | CA380310704 | MYBPC3 | c.3767C>G (p.Thr1256Ser) c.3749C>G (p.Thr1250Ser) c.3686C>G (p.Thr1229Ser) | |
11 | g.47332119G= | CA1969333348 | MYBPC3 | c.3767C= (p.Thr1256=) c.3749C= (p.Thr1250=) c.3686C= (p.Thr1229=) | |
11 | g.47332119G>T | CA380310701 | MYBPC3 | c.3767C>A (p.Thr1256Asn) c.3749C>A (p.Thr1250Asn) c.3686C>A (p.Thr1229Asn) | |
11 | g.47332119_47332120delinsGT | CA1969333350 | MYBPC3 | c.3766_3767delinsAC (p.Thr1256=) c.3748_3749delinsAC (p.Thr1250=) c.3685_3686delinsAC (p.Thr1229=) | |
11 | g.47332120del | CA1139659380 | MYBPC3 | c.3766del (p.Thr1256ProfsTer?) c.3748del (p.Thr1250ProfsTer?) c.3685del (p.Thr1229ProfsTer?) | ClinVar dbSNP |
11 | g.47332120T>A | CA380310708 | MYBPC3 | c.3766A>T (p.Thr1256Ser) c.3748A>T (p.Thr1250Ser) c.3685A>T (p.Thr1229Ser) | |
11 | g.47332120T>C | CA380310712 | MYBPC3 | c.3766A>G (p.Thr1256Ala) c.3748A>G (p.Thr1250Ala) c.3685A>G (p.Thr1229Ala) | |
11 | g.47332120T>G | CA380310715 | MYBPC3 | c.3766A>C (p.Thr1256Pro) c.3748A>C (p.Thr1250Pro) c.3685A>C (p.Thr1229Pro) | |
11 | g.47332120dup | CA2695213893 | MYBPC3 | c.3766dup (p.Thr1256AsnfsTer10) c.3748dup (p.Thr1250AsnfsTer10) c.3685dup (p.Thr1229AsnfsTer10) | |
11 | g.47332121G>A | CA474428837 | MYBPC3 | c.3765C>T (p.Ala1255=) c.3747C>T (p.Ala1249=) c.3684C>T (p.Ala1228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332121G>C | CA474428838 | MYBPC3 | c.3765C>G (p.Ala1255=) c.3747C>G (p.Ala1249=) c.3684C>G (p.Ala1228=) | ClinVar dbSNP |
11 | g.47332121G= | CA1969333355 | MYBPC3 | c.3765C= (p.Ala1255=) c.3747C= (p.Ala1249=) c.3684C= (p.Ala1228=) | |
11 | g.47332121G>T | CA474428839 | MYBPC3 | c.3765C>A (p.Ala1255=) c.3747C>A (p.Ala1249=) c.3684C>A (p.Ala1228=) | |
11 | g.47332122G>A | CA054887 | MYBPC3 | c.3764C>T (p.Ala1255Val) c.3746C>T (p.Ala1249Val) c.3683C>T (p.Ala1228Val) | |
11 | g.47332122G>C | CA221681757 | MYBPC3 | c.3764C>G (p.Ala1255Gly) c.3746C>G (p.Ala1249Gly) c.3683C>G (p.Ala1228Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47332122G= | CA1969333361 | MYBPC3 | c.3764C= (p.Ala1255=) c.3746C= (p.Ala1249=) c.3683C= (p.Ala1228=) | |
11 | g.47332122G>T | CA014820 | MYBPC3 | c.3764C>A (p.Ala1255Asp) c.3746C>A (p.Ala1249Asp) c.3683C>A (p.Ala1228Asp) | ClinVar dbSNP |
11 | g.47332122_47332123delinsGC | CA1969333364 | MYBPC3 | c.3763_3764delinsGC (p.Ala1255=) c.3745_3746delinsGC (p.Ala1249=) c.3682_3683delinsGC (p.Ala1228=) | |
11 | g.47332123C>A | CA380310729 | MYBPC3 | c.3763G>T (p.Ala1255Ser) c.3745G>T (p.Ala1249Ser) c.3682G>T (p.Ala1228Ser) | |
11 | g.47332123C= | CA1969333367 | MYBPC3 | c.3763G= (p.Ala1255=) c.3745G= (p.Ala1249=) c.3682G= (p.Ala1228=) | |
11 | g.47332123C>G | CA380310734 | MYBPC3 | c.3763G>C (p.Ala1255Pro) c.3745G>C (p.Ala1249Pro) c.3682G>C (p.Ala1228Pro) | |
11 | g.47332123C>T | CA014812 | MYBPC3 | c.3763G>A (p.Ala1255Thr) c.3745G>A (p.Ala1249Thr) c.3682G>A (p.Ala1228Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332125del | CA014805 | MYBPC3 | c.3763del (p.Ala1255ProfsTer?) c.3745del (p.Ala1249ProfsTer?) c.3682del (p.Ala1228ProfsTer?) | ClinVar dbSNP |
11 | g.47332124C>A | CA380310744 | MYBPC3 | c.3762G>T (p.Arg1254Ser) c.3744G>T (p.Arg1248Ser) c.3681G>T (p.Arg1227Ser) | |
11 | g.47332124C= | CA1969333368 | MYBPC3 | c.3762G= (p.Arg1254=) c.3744G= (p.Arg1248=) c.3681G= (p.Arg1227=) | |
11 | g.47332124C>G | CA380310749 | MYBPC3 | c.3762G>C (p.Arg1254Ser) c.3744G>C (p.Arg1248Ser) c.3681G>C (p.Arg1227Ser) | |
11 | g.47332124C>T | CA079533 | MYBPC3 | c.3762G>A (p.Arg1254=) c.3744G>A (p.Arg1248=) c.3681G>A (p.Arg1227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332125C>A | CA380310761 | MYBPC3 | c.3761G>T (p.Arg1254Met) c.3743G>T (p.Arg1248Met) c.3680G>T (p.Arg1227Met) | |
11 | g.47332125C>G | CA380310768 | MYBPC3 | c.3761G>C (p.Arg1254Thr) c.3743G>C (p.Arg1248Thr) c.3680G>C (p.Arg1227Thr) | |
11 | g.47332125C>T | CA380310764 | MYBPC3 | c.3761G>A (p.Arg1254Lys) c.3743G>A (p.Arg1248Lys) c.3680G>A (p.Arg1227Lys) | |
11 | g.47332126T>A | CA380310773 | MYBPC3 | c.3760A>T (p.Arg1254Trp) c.3742A>T (p.Arg1248Trp) c.3679A>T (p.Arg1227Trp) | |
11 | g.47332126T>C | CA380310776 | MYBPC3 | c.3760A>G (p.Arg1254Gly) c.3742A>G (p.Arg1248Gly) c.3679A>G (p.Arg1227Gly) | ClinVar gnomAD v4 |
11 | g.47332126T>G | CA474428840 | MYBPC3 | c.3760A>C (p.Arg1254=) c.3742A>C (p.Arg1248=) c.3679A>C (p.Arg1227=) | |
11 | g.47332126T= | CA1969333369 | MYBPC3 | c.3760A= (p.Arg1254=) c.3742A= (p.Arg1248=) c.3679A= (p.Arg1227=) | |
11 | g.47332127G>A | CA474428841 | MYBPC3 | c.3759C>T (p.Cys1253=) c.3741C>T (p.Cys1247=) c.3678C>T (p.Cys1226=) | |
11 | g.47332127G>C | CA380310805 | MYBPC3 | c.3759C>G (p.Cys1253Trp) c.3741C>G (p.Cys1247Trp) c.3678C>G (p.Cys1226Trp) | |
11 | g.47332127G>T | CA380310809 | MYBPC3 | c.3759C>A (p.Cys1253Ter) c.3741C>A (p.Cys1247Ter) c.3678C>A (p.Cys1226Ter) | |
11 | g.47332127dup | CA1139659381 | MYBPC3 | c.3759dup (p.Arg1254GlnfsTer12) c.3741dup (p.Arg1248GlnfsTer12) c.3678dup (p.Arg1227GlnfsTer12) | ClinVar dbSNP |
11 | g.47332127_47332142delinsGCAGACATAGATGCCC | CA1969333371 | MYBPC3 | c.3744_3759delinsGGGCATCTATGTCTGC (p.Gly1248=) c.3726_3741delinsGGGCATCTATGTCTGC (p.Gly1242=) c.3663_3678delinsGGGCATCTATGTCTGC (p.Gly1221=) | |
11 | g.47332128_47332145dup | CA014796 | MYBPC3 | c.3742_3759dup (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) c.3724_3741dup (p.Cys1247_Arg1248insGlyGlyIleTyrValCys) c.3661_3678dup (p.Cys1226_Arg1227insGlyGlyIleTyrValCys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332128_47332145del | CA2695213894 | MYBPC3 | c.3742_3759del (p.Gly1248_Cys1253del) c.3724_3741del (p.Gly1242_Cys1247del) c.3661_3678del (p.Gly1221_Cys1226del) | |
11 | g.47332128C>A | CA380310819 | MYBPC3 | c.3758G>T (p.Cys1253Phe) c.3740G>T (p.Cys1247Phe) c.3677G>T (p.Cys1226Phe) | |
11 | g.47332128C>G | CA380310822 | MYBPC3 | c.3758G>C (p.Cys1253Ser) c.3740G>C (p.Cys1247Ser) c.3677G>C (p.Cys1226Ser) | |
11 | g.47332128C>T | CA380310824 | MYBPC3 | c.3758G>A (p.Cys1253Tyr) c.3740G>A (p.Cys1247Tyr) c.3677G>A (p.Cys1226Tyr) | ClinVar |
11 | g.47332129_47332143del | CA014740 | MYBPC3 | c.3744_3758del (p.Gly1249_Cys1253del) c.3726_3740del (p.Gly1243_Cys1247del) c.3663_3677del (p.Gly1222_Cys1226del) | ClinVar dbSNP |
11 | g.47332128_47332144dup | CA1139771138 | MYBPC3 | c.3742_3758dup (p.Cys1253TrpfsTer?) c.3724_3740dup (p.Cys1247TrpfsTer?) c.3661_3677dup (p.Cys1226TrpfsTer?) | |
11 | g.47332129A>C | CA380310841 | MYBPC3 | c.3757T>G (p.Cys1253Gly) c.3739T>G (p.Cys1247Gly) c.3676T>G (p.Cys1226Gly) | |
11 | g.47332129A>G | CA380310845 | MYBPC3 | c.3757T>C (p.Cys1253Arg) c.3739T>C (p.Cys1247Arg) c.3676T>C (p.Cys1226Arg) | |
11 | g.47332129A>T | CA380310835 | MYBPC3 | c.3757T>A (p.Cys1253Ser) c.3739T>A (p.Cys1247Ser) c.3676T>A (p.Cys1226Ser) | ClinVar |
11 | g.47332130G>A | CA474428842 | MYBPC3 | c.3756C>T (p.Val1252=) c.3738C>T (p.Val1246=) c.3675C>T (p.Val1225=) | |
11 | g.47332130G>C | CA079531 | MYBPC3 | c.3756C>G (p.Val1252=) c.3738C>G (p.Val1246=) c.3675C>G (p.Val1225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332130G= | CA1969333374 | MYBPC3 | c.3756C= (p.Val1252=) c.3738C= (p.Val1246=) c.3675C= (p.Val1225=) | |
11 | g.47332130G>T | CA474428843 | MYBPC3 | c.3756C>A (p.Val1252=) c.3738C>A (p.Val1246=) c.3675C>A (p.Val1225=) | |
11 | g.47332131A= | CA1969333375 | MYBPC3 | c.3755T= (p.Val1252=) c.3737T= (p.Val1246=) c.3674T= (p.Val1225=) | |
11 | g.47332131A>C | CA380310852 | MYBPC3 | c.3755T>G (p.Val1252Gly) c.3737T>G (p.Val1246Gly) c.3674T>G (p.Val1225Gly) | |
11 | g.47332131A>G | CA380310856 | MYBPC3 | c.3755T>C (p.Val1252Ala) c.3737T>C (p.Val1246Ala) c.3674T>C (p.Val1225Ala) | |
11 | g.47332131A>T | CA380310857 | MYBPC3 | c.3755T>A (p.Val1252Asp) c.3737T>A (p.Val1246Asp) c.3674T>A (p.Val1225Asp) | dbSNP gnomAD v2 |
11 | g.47332132C>A | CA380310860 | MYBPC3 | c.3754G>T (p.Val1252Phe) c.3736G>T (p.Val1246Phe) c.3673G>T (p.Val1225Phe) | |
11 | g.47332132C= | CA1969333377 | MYBPC3 | c.3754G= (p.Val1252=) c.3736G= (p.Val1246=) c.3673G= (p.Val1225=) | |
11 | g.47332132C>G | CA380310862 | MYBPC3 | c.3754G>C (p.Val1252Leu) c.3736G>C (p.Val1246Leu) c.3673G>C (p.Val1225Leu) | |
11 | g.47332132C>T | CA380310866 | MYBPC3 | c.3754G>A (p.Val1252Ile) c.3736G>A (p.Val1246Ile) c.3673G>A (p.Val1225Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.47332132_47332134delinsCAT | CA1969333378 | MYBPC3 | c.3752_3754delinsATG (p.Tyr1251=) c.3734_3736delinsATG (p.Tyr1245=) c.3671_3673delinsATG (p.Tyr1224=) | |
11 | g.47332133A= | CA1969333380 | MYBPC3 | c.3753T= (p.Tyr1251=) c.3735T= (p.Tyr1245=) c.3672T= (p.Tyr1224=) | |
11 | g.47332133A>C | CA014787 | MYBPC3 | c.3753T>G (p.Tyr1251Ter) c.3735T>G (p.Tyr1245Ter) c.3672T>G (p.Tyr1224Ter) | ClinVar dbSNP |
11 | g.47332133A>G | CA014777 | MYBPC3 | c.3753T>C (p.Tyr1251=) c.3735T>C (p.Tyr1245=) c.3672T>C (p.Tyr1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332133A>T | CA380310879 | MYBPC3 | c.3753T>A (p.Tyr1251Ter) c.3735T>A (p.Tyr1245Ter) c.3672T>A (p.Tyr1224Ter) | |
11 | g.47332134_47332135del | CA1139659382 | MYBPC3 | c.3752_3753del (p.Tyr1251CysfsTer14) c.3734_3735del (p.Tyr1245CysfsTer14) c.3671_3672del (p.Tyr1224CysfsTer14) | ClinVar dbSNP gnomAD v4 |
11 | g.47332134T>A | CA380310882 | MYBPC3 | c.3752A>T (p.Tyr1251Phe) c.3734A>T (p.Tyr1245Phe) c.3671A>T (p.Tyr1224Phe) | |
11 | g.47332134T>C | CA014770 | MYBPC3 | c.3752A>G (p.Tyr1251Cys) c.3734A>G (p.Tyr1245Cys) c.3671A>G (p.Tyr1224Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.47332134T>G | CA380310892 | MYBPC3 | c.3752A>C (p.Tyr1251Ser) c.3734A>C (p.Tyr1245Ser) c.3671A>C (p.Tyr1224Ser) | |
11 | g.47332134T= | CA1969333383 | MYBPC3 | c.3752A= (p.Tyr1251=) c.3734A= (p.Tyr1245=) c.3671A= (p.Tyr1224=) | |
11 | g.47332134dup | CA2697548534 | MYBPC3 | c.3752dup (p.Tyr1251Ter) c.3734dup (p.Tyr1245Ter) c.3671dup (p.Tyr1224Ter) | ClinVar |
11 | g.47332135A= | CA1969333385 | MYBPC3 | c.3751T= (p.Tyr1251=) c.3733T= (p.Tyr1245=) c.3670T= (p.Tyr1224=) | |
11 | g.47332135A>C | CA380310899 | MYBPC3 | c.3751T>G (p.Tyr1251Asp) c.3733T>G (p.Tyr1245Asp) c.3670T>G (p.Tyr1224Asp) | ClinVar dbSNP |
11 | g.47332135A>G | CA014762 | MYBPC3 | c.3751T>C (p.Tyr1251His) c.3733T>C (p.Tyr1245His) c.3670T>C (p.Tyr1224His) | ClinVar dbSNP gnomAD v4 |
11 | g.47332135A>T | CA380310894 | MYBPC3 | c.3751T>A (p.Tyr1251Asn) c.3733T>A (p.Tyr1245Asn) c.3670T>A (p.Tyr1224Asn) | COSMIC COSMIC |
11 | g.47332136G>A | CA474428844 | MYBPC3 | c.3750C>T (p.Ile1250=) c.3732C>T (p.Ile1244=) c.3669C>T (p.Ile1223=) | |
11 | g.47332136G>C | CA079527 | MYBPC3 | c.3750C>G (p.Ile1250Met) c.3732C>G (p.Ile1244Met) c.3669C>G (p.Ile1223Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332136G= | CA1969333387 | MYBPC3 | c.3750C= (p.Ile1250=) c.3732C= (p.Ile1244=) c.3669C= (p.Ile1223=) | |
11 | g.47332136G>T | CA474428845 | MYBPC3 | c.3750C>A (p.Ile1250=) c.3732C>A (p.Ile1244=) c.3669C>A (p.Ile1223=) | |
11 | g.47332137A>C | CA380310909 | MYBPC3 | c.3749T>G (p.Ile1250Ser) c.3731T>G (p.Ile1244Ser) c.3668T>G (p.Ile1223Ser) | |
11 | g.47332137A>G | CA380310914 | MYBPC3 | c.3749T>C (p.Ile1250Thr) c.3731T>C (p.Ile1244Thr) c.3668T>C (p.Ile1223Thr) | gnomAD v4 |
11 | g.47332137A>T | CA380310917 | MYBPC3 | c.3749T>A (p.Ile1250Asn) c.3731T>A (p.Ile1244Asn) c.3668T>A (p.Ile1223Asn) | |
11 | g.47332138del | CA2739270411 | MYBPC3 | c.3748del (p.Ile1250SerfsTer?) c.3730del (p.Ile1244SerfsTer?) c.3667del (p.Ile1223SerfsTer?) | ClinVar |
11 | g.47332138T>A | CA380310923 | MYBPC3 | c.3748A>T (p.Ile1250Phe) c.3730A>T (p.Ile1244Phe) c.3667A>T (p.Ile1223Phe) | |
11 | g.47332138T>C | CA380310926 | MYBPC3 | c.3748A>G (p.Ile1250Val) c.3730A>G (p.Ile1244Val) c.3667A>G (p.Ile1223Val) | dbSNP |
11 | g.47332138T>G | CA380310929 | MYBPC3 | c.3748A>C (p.Ile1250Leu) c.3730A>C (p.Ile1244Leu) c.3667A>C (p.Ile1223Leu) | |
11 | g.47332138T= | CA1969333389 | MYBPC3 | c.3748A= (p.Ile1250=) c.3730A= (p.Ile1244=) c.3667A= (p.Ile1223=) | |
11 | g.47332138_47332139insCC | CA2697548535 | MYBPC3 | c.3747_3748insGG (p.Ile1250GlyfsTer?) c.3729_3730insGG (p.Ile1244GlyfsTer?) c.3666_3667insGG (p.Ile1223GlyfsTer?) | ClinVar |
11 | g.47332139del | CA2695213895 | MYBPC3 | c.3747del (p.Ile1250SerfsTer?) c.3729del (p.Ile1244SerfsTer?) c.3666del (p.Ile1223SerfsTer?) | |
11 | g.47332139G>A | CA079526 | MYBPC3 | c.3747C>T (p.Gly1249=) c.3729C>T (p.Gly1243=) c.3666C>T (p.Gly1222=) | dbSNP ExAC gnomAD v2 |
11 | g.47332139G>C | CA054837 | MYBPC3 | c.3747C>G (p.Gly1249=) c.3729C>G (p.Gly1243=) c.3666C>G (p.Gly1222=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332139G= | CA1969333392 | MYBPC3 | c.3747C= (p.Gly1249=) c.3729C= (p.Gly1243=) c.3666C= (p.Gly1222=) | |
11 | g.47332139G>T | CA474428846 | MYBPC3 | c.3747C>A (p.Gly1249=) c.3729C>A (p.Gly1243=) c.3666C>A (p.Gly1222=) | |
11 | g.47332139dup | CA2695213896 | MYBPC3 | c.3747dup (p.Ile1250HisfsTer16) c.3729dup (p.Ile1244HisfsTer16) c.3666dup (p.Ile1223HisfsTer16) | |
11 | g.47332140C>A | CA014754 | MYBPC3 | c.3746G>T (p.Gly1249Val) c.3728G>T (p.Gly1243Val) c.3665G>T (p.Gly1222Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47332140C= | CA1969333395 | MYBPC3 | c.3746G= (p.Gly1249=) c.3728G= (p.Gly1243=) c.3665G= (p.Gly1222=) | |
11 | g.47332140C>G | CA380310941 | MYBPC3 | c.3746G>C (p.Gly1249Ala) c.3728G>C (p.Gly1243Ala) c.3665G>C (p.Gly1222Ala) | |
11 | g.47332140C>T | CA380310946 | MYBPC3 | c.3746G>A (p.Gly1249Asp) c.3728G>A (p.Gly1243Asp) c.3665G>A (p.Gly1222Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332143_47332144insGCAGACATAGATGCCCCC | CA2739291458 | MYBPC3 | c.3746_3747insGCATCTATGTCTGCGGGG (p.Gly1249_Ile1250insHisLeuCysLeuArgGly) c.3728_3729insGCATCTATGTCTGCGGGG (p.Gly1243_Ile1244insHisLeuCysLeuArgGly) c.3665_3666insGCATCTATGTCTGCGGGG (p.Gly1222_Ile1223insHisLeuCysLeuArgGly) | |
11 | g.47332144del | CA2573146356 | MYBPC3 | c.3746del (p.Gly1249AlafsTer?) c.3728del (p.Gly1243AlafsTer?) c.3665del (p.Gly1222AlafsTer?) | ClinVar dbSNP |
11 | g.47332141C>A | CA380310950 | MYBPC3 | c.3745G>T (p.Gly1249Cys) c.3727G>T (p.Gly1243Cys) c.3664G>T (p.Gly1222Cys) | |
11 | g.47332141C>G | CA380310954 | MYBPC3 | c.3745G>C (p.Gly1249Arg) c.3727G>C (p.Gly1243Arg) c.3664G>C (p.Gly1222Arg) | |
11 | g.47332141C>T | CA380310958 | MYBPC3 | c.3745G>A (p.Gly1249Ser) c.3727G>A (p.Gly1243Ser) c.3664G>A (p.Gly1222Ser) | gnomAD v4 |
11 | g.47332142C>A | CA474428849 | MYBPC3 | c.3744G>T (p.Gly1248=) c.3726G>T (p.Gly1242=) c.3663G>T (p.Gly1221=) | |
11 | g.47332142C= | CA1969333396 | MYBPC3 | c.3744G= (p.Gly1248=) c.3726G= (p.Gly1242=) c.3663G= (p.Gly1221=) | |
11 | g.47332142C>G | CA474428848 | MYBPC3 | c.3744G>C (p.Gly1248=) c.3726G>C (p.Gly1242=) c.3663G>C (p.Gly1221=) | |
11 | g.47332142C>T | CA474428847 | MYBPC3 | c.3744G>A (p.Gly1248=) c.3726G>A (p.Gly1242=) c.3663G>A (p.Gly1221=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332143C>A | CA380310961 | MYBPC3 | c.3743G>T (p.Gly1248Val) c.3725G>T (p.Gly1242Val) c.3662G>T (p.Gly1221Val) | |
11 | g.47332143C>G | CA380310960 | MYBPC3 | c.3743G>C (p.Gly1248Ala) c.3725G>C (p.Gly1242Ala) c.3662G>C (p.Gly1221Ala) | |
11 | g.47332143C>T | CA380310959 | MYBPC3 | c.3743G>A (p.Gly1248Glu) c.3725G>A (p.Gly1242Glu) c.3662G>A (p.Gly1221Glu) | |
11 | g.47332144C>A | CA380310963 | MYBPC3 | c.3742G>T (p.Gly1248Trp) c.3724G>T (p.Gly1242Trp) c.3661G>T (p.Gly1221Trp) | COSMIC |
11 | g.47332144C= | CA1969333398 | MYBPC3 | c.3742G= (p.Gly1248=) c.3724G= (p.Gly1242=) c.3661G= (p.Gly1221=) | |
11 | g.47332144C>G | CA380310966 | MYBPC3 | c.3742G>C (p.Gly1248Arg) c.3724G>C (p.Gly1242Arg) c.3661G>C (p.Gly1221Arg) | COSMIC COSMIC |
11 | g.47332144C>T | CA014732 | MYBPC3 | c.3742G>A (p.Gly1248Arg) c.3724G>A (p.Gly1242Arg) c.3661G>A (p.Gly1221Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332145G>A | CA014720 | MYBPC3 | c.3741C>T (p.Asp1247=) c.3723C>T (p.Asp1241=) c.3660C>T (p.Asp1220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332145G>C | CA380310976 | MYBPC3 | c.3741C>G (p.Asp1247Glu) c.3723C>G (p.Asp1241Glu) c.3660C>G (p.Asp1220Glu) | |
11 | g.47332145G= | CA1969333400 | MYBPC3 | c.3741C= (p.Asp1247=) c.3723C= (p.Asp1241=) c.3660C= (p.Asp1220=) | |
11 | g.47332145G>T | CA380310979 | MYBPC3 | c.3741C>A (p.Asp1247Glu) c.3723C>A (p.Asp1241Glu) c.3660C>A (p.Asp1220Glu) | |
11 | g.47332146T>A | CA380310989 | MYBPC3 | c.3740A>T (p.Asp1247Val) c.3722A>T (p.Asp1241Val) c.3659A>T (p.Asp1220Val) | |
11 | g.47332146T>C | CA380310981 | MYBPC3 | c.3740A>G (p.Asp1247Gly) c.3722A>G (p.Asp1241Gly) c.3659A>G (p.Asp1220Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332146T>G | CA380310986 | MYBPC3 | c.3740A>C (p.Asp1247Ala) c.3722A>C (p.Asp1241Ala) c.3659A>C (p.Asp1220Ala) | |
11 | g.47332146T= | CA1969333403 | MYBPC3 | c.3740A= (p.Asp1247=) c.3722A= (p.Asp1241=) c.3659A= (p.Asp1220=) | |
11 | g.47332147C>A | CA380310995 | MYBPC3 | c.3739G>T (p.Asp1247Tyr) c.3721G>T (p.Asp1241Tyr) c.3658G>T (p.Asp1220Tyr) | ClinVar |
11 | g.47332147C= | CA1969333405 | MYBPC3 | c.3739G= (p.Asp1247=) c.3721G= (p.Asp1241=) c.3658G= (p.Asp1220=) | |
11 | g.47332147C>G | CA380310999 | MYBPC3 | c.3739G>C (p.Asp1247His) c.3721G>C (p.Asp1241His) c.3658G>C (p.Asp1220His) | gnomAD v4 |
11 | g.47332147C>T | CA054809 | MYBPC3 | c.3739G>A (p.Asp1247Asn) c.3721G>A (p.Asp1241Asn) c.3658G>A (p.Asp1220Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47332148A>C | CA380311016 | MYBPC3 | c.3738T>G (p.Phe1246Leu) c.3720T>G (p.Phe1240Leu) c.3657T>G (p.Phe1219Leu) | |
11 | g.47332148A>G | CA474428850 | MYBPC3 | c.3738T>C (p.Phe1246=) c.3720T>C (p.Phe1240=) c.3657T>C (p.Phe1219=) | |
11 | g.47332148A>T | CA380311036 | MYBPC3 | c.3738T>A (p.Phe1246Leu) c.3720T>A (p.Phe1240Leu) c.3657T>A (p.Phe1219Leu) | |
11 | g.47332149A= | CA1969333407 | MYBPC3 | c.3737T= (p.Phe1246=) c.3719T= (p.Phe1240=) c.3656T= (p.Phe1219=) | |
11 | g.47332149A>C | CA380311050 | MYBPC3 | c.3737T>G (p.Phe1246Cys) c.3719T>G (p.Phe1240Cys) c.3656T>G (p.Phe1219Cys) | |
11 | g.47332149A>G | CA014703 | MYBPC3 | c.3737T>C (p.Phe1246Ser) c.3719T>C (p.Phe1240Ser) c.3656T>C (p.Phe1219Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332149A>T | CA380311044 | MYBPC3 | c.3737T>A (p.Phe1246Tyr) c.3719T>A (p.Phe1240Tyr) c.3656T>A (p.Phe1219Tyr) | dbSNP |
11 | g.47332150A>C | CA380311053 | MYBPC3 | c.3736T>G (p.Phe1246Val) c.3718T>G (p.Phe1240Val) c.3655T>G (p.Phe1219Val) | COSMIC COSMIC |
11 | g.47332150A>G | CA380311055 | MYBPC3 | c.3736T>C (p.Phe1246Leu) c.3718T>C (p.Phe1240Leu) c.3655T>C (p.Phe1219Leu) | |
11 | g.47332150A>T | CA380311058 | MYBPC3 | c.3736T>A (p.Phe1246Ile) c.3718T>A (p.Phe1240Ile) c.3655T>A (p.Phe1219Ile) | |
11 | g.47332150_47332151delinsAG | CA1969333409 | MYBPC3 | c.3735_3736delinsCT (p.Pro1245=) c.3717_3718delinsCT (p.Pro1239=) c.3654_3655delinsCT (p.Pro1218=) | |
11 | g.47332151G>A | CA474428851 | MYBPC3 | c.3735C>T (p.Pro1245=) c.3717C>T (p.Pro1239=) c.3654C>T (p.Pro1218=) | ClinVar gnomAD v4 |
11 | g.47332151G>C | CA474428852 | MYBPC3 | c.3735C>G (p.Pro1245=) c.3717C>G (p.Pro1239=) c.3654C>G (p.Pro1218=) | |
11 | g.47332151G>T | CA474428853 | MYBPC3 | c.3735C>A (p.Pro1245=) c.3717C>A (p.Pro1239=) c.3654C>A (p.Pro1218=) | |
11 | g.47332154del | CA014698 | MYBPC3 | c.3735del (p.Phe1246LeufsTer?) c.3717del (p.Phe1240LeufsTer?) c.3654del (p.Phe1219LeufsTer?) | ClinVar dbSNP |
11 | g.47332152G>A | CA380311066 | MYBPC3 | c.3734C>T (p.Pro1245Leu) c.3716C>T (p.Pro1239Leu) c.3653C>T (p.Pro1218Leu) | ClinVar |
11 | g.47332152G>C | CA380311067 | MYBPC3 | c.3734C>G (p.Pro1245Arg) c.3716C>G (p.Pro1239Arg) c.3653C>G (p.Pro1218Arg) | |
11 | g.47332152G>T | CA380311069 | MYBPC3 | c.3734C>A (p.Pro1245His) c.3716C>A (p.Pro1239His) c.3653C>A (p.Pro1218His) | |
11 | g.47332153G>A | CA380311071 | MYBPC3 | c.3733C>T (p.Pro1245Ser) c.3715C>T (p.Pro1239Ser) c.3652C>T (p.Pro1218Ser) | |
11 | g.47332153G>C | CA380311074 | MYBPC3 | c.3733C>G (p.Pro1245Ala) c.3715C>G (p.Pro1239Ala) c.3652C>G (p.Pro1218Ala) | |
11 | g.47332153G= | CA1969333411 | MYBPC3 | c.3733C= (p.Pro1245=) c.3715C= (p.Pro1239=) c.3652C= (p.Pro1218=) | |
11 | g.47332153G>T | CA221681784 | MYBPC3 | c.3733C>A (p.Pro1245Thr) c.3715C>A (p.Pro1239Thr) c.3652C>A (p.Pro1218Thr) | dbSNP |
11 | g.47332154G>A | CA474428854 | MYBPC3 | c.3732C>T (p.Cys1244=) c.3714C>T (p.Cys1238=) c.3651C>T (p.Cys1217=) | ClinVar dbSNP |
11 | g.47332154G>C | CA380311080 | MYBPC3 | c.3732C>G (p.Cys1244Trp) c.3714C>G (p.Cys1238Trp) c.3651C>G (p.Cys1217Trp) | |
11 | g.47332154G= | CA1969333413 | MYBPC3 | c.3732C= (p.Cys1244=) c.3714C= (p.Cys1238=) c.3651C= (p.Cys1217=) | |
11 | g.47332154G>T | CA014689 | MYBPC3 | c.3732C>A (p.Cys1244Ter) c.3714C>A (p.Cys1238Ter) c.3651C>A (p.Cys1217Ter) | ClinVar dbSNP |
11 | g.47332155C>A | CA380311088 | MYBPC3 | c.3731G>T (p.Cys1244Phe) c.3713G>T (p.Cys1238Phe) c.3650G>T (p.Cys1217Phe) | |
11 | g.47332155C= | CA1969333417 | MYBPC3 | c.3731G= (p.Cys1244=) c.3713G= (p.Cys1238=) c.3650G= (p.Cys1217=) | |
11 | g.47332155C>G | CA380311095 | MYBPC3 | c.3731G>C (p.Cys1244Ser) c.3713G>C (p.Cys1238Ser) c.3650G>C (p.Cys1217Ser) | |
11 | g.47332155C>T | CA380311090 | MYBPC3 | c.3731G>A (p.Cys1244Tyr) c.3713G>A (p.Cys1238Tyr) c.3650G>A (p.Cys1217Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.47332156A>C | CA380311098 | MYBPC3 | c.3730T>G (p.Cys1244Gly) c.3712T>G (p.Cys1238Gly) c.3649T>G (p.Cys1217Gly) | |
11 | g.47332156A>G | CA380311104 | MYBPC3 | c.3730T>C (p.Cys1244Arg) c.3712T>C (p.Cys1238Arg) c.3649T>C (p.Cys1217Arg) | ClinVar |
11 | g.47332156A>T | CA380311101 | MYBPC3 | c.3730T>A (p.Cys1244Ser) c.3712T>A (p.Cys1238Ser) c.3649T>A (p.Cys1217Ser) | |
11 | g.47332156_47332157delinsAG | CA1969333418 | MYBPC3 | c.3729_3730delinsCT (p.Pro1243=) c.3711_3712delinsCT (p.Pro1237=) c.3648_3649delinsCT (p.Pro1216=) | |
11 | g.47332157G>A | CA474428855 | MYBPC3 | c.3729C>T (p.Pro1243=) c.3711C>T (p.Pro1237=) c.3648C>T (p.Pro1216=) | |
11 | g.47332157G>C | CA474428856 | MYBPC3 | c.3729C>G (p.Pro1243=) c.3711C>G (p.Pro1237=) c.3648C>G (p.Pro1216=) | |
11 | g.47332157G>T | CA474428857 | MYBPC3 | c.3729C>A (p.Pro1243=) c.3711C>A (p.Pro1237=) c.3648C>A (p.Pro1216=) | gnomAD v4 |
11 | g.47332159dup | CA2499220957 | MYBPC3 | c.3729dup (p.Cys1244LeufsTer4) c.3711dup (p.Cys1238LeufsTer4) c.3648dup (p.Cys1217LeufsTer4) | ClinVar dbSNP |
11 | g.47332159del | CA599374101 | MYBPC3 | c.3729del (p.Cys1244AlafsTer?) c.3711del (p.Cys1238AlafsTer?) c.3648del (p.Cys1217AlafsTer?) | dbSNP gnomAD v2 |
11 | g.47332158G>A | CA380311108 | MYBPC3 | c.3728C>T (p.Pro1243Leu) c.3710C>T (p.Pro1237Leu) c.3647C>T (p.Pro1216Leu) | COSMIC COSMIC |
11 | g.47332158G>C | CA279610 | MYBPC3 | c.3728C>G (p.Pro1243Arg) c.3710C>G (p.Pro1237Arg) c.3647C>G (p.Pro1216Arg) | ClinVar dbSNP |
11 | g.47332158G= | CA1969333419 | MYBPC3 | c.3728C= (p.Pro1243=) c.3710C= (p.Pro1237=) c.3647C= (p.Pro1216=) | |
11 | g.47332158G>T | CA380311115 | MYBPC3 | c.3728C>A (p.Pro1243His) c.3710C>A (p.Pro1237His) c.3647C>A (p.Pro1216His) | ClinVar |
11 | g.47332159G>A | CA380311116 | MYBPC3 | c.3727C>T (p.Pro1243Ser) c.3709C>T (p.Pro1237Ser) c.3646C>T (p.Pro1216Ser) | |
11 | g.47332159G>C | CA380311119 | MYBPC3 | c.3727C>G (p.Pro1243Ala) c.3709C>G (p.Pro1237Ala) c.3646C>G (p.Pro1216Ala) | |
11 | g.47332159G>T | CA380311123 | MYBPC3 | c.3727C>A (p.Pro1243Thr) c.3709C>A (p.Pro1237Thr) c.3646C>A (p.Pro1216Thr) | |
11 | g.47332159_47332160delinsGC | CA1969333421 | MYBPC3 | c.3726_3727delinsGC (p.Lys1242=) c.3708_3709delinsGC (p.Lys1236=) c.3645_3646delinsGC (p.Lys1215=) | |
11 | g.47332160del | CA16619331 | MYBPC3 | c.3726del (p.Lys1242AsnfsTer?) c.3708del (p.Lys1236AsnfsTer?) c.3645del (p.Lys1215AsnfsTer?) | ClinVar dbSNP |
11 | g.47332160C>A | CA16606238 | MYBPC3 | c.3726G>T (p.Lys1242Asn) c.3708G>T (p.Lys1236Asn) c.3645G>T (p.Lys1215Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332160C= | CA1969333424 | MYBPC3 | c.3726G= (p.Lys1242=) c.3708G= (p.Lys1236=) c.3645G= (p.Lys1215=) | |
11 | g.47332160C>G | CA380311135 | MYBPC3 | c.3726G>C (p.Lys1242Asn) c.3708G>C (p.Lys1236Asn) c.3645G>C (p.Lys1215Asn) | |
11 | g.47332160C>T | CA474428858 | MYBPC3 | c.3726G>A (p.Lys1242=) c.3708G>A (p.Lys1236=) c.3645G>A (p.Lys1215=) | |
11 | g.47332161T>A | CA380311138 | MYBPC3 | c.3725A>T (p.Lys1242Met) c.3707A>T (p.Lys1236Met) c.3644A>T (p.Lys1215Met) | |
11 | g.47332161T>C | CA380311139 | MYBPC3 | c.3725A>G (p.Lys1242Arg) c.3707A>G (p.Lys1236Arg) c.3644A>G (p.Lys1215Arg) | |
11 | g.47332161T>G | CA380311140 | MYBPC3 | c.3725A>C (p.Lys1242Thr) c.3707A>C (p.Lys1236Thr) c.3644A>C (p.Lys1215Thr) | |
11 | g.47332162T>A | CA380311144 | MYBPC3 | c.3724A>T (p.Lys1242Ter) c.3706A>T (p.Lys1236Ter) c.3643A>T (p.Lys1215Ter) | |
11 | g.47332162T>C | CA221681792 | MYBPC3 | c.3724A>G (p.Lys1242Glu) c.3706A>G (p.Lys1236Glu) c.3643A>G (p.Lys1215Glu) | ClinVar dbSNP |
11 | g.47332162T>G | CA380311142 | MYBPC3 | c.3724A>C (p.Lys1242Gln) c.3706A>C (p.Lys1236Gln) c.3643A>C (p.Lys1215Gln) | |
11 | g.47332162T= | CA1969333426 | MYBPC3 | c.3724A= (p.Lys1242=) c.3706A= (p.Lys1236=) c.3643A= (p.Lys1215=) | |
11 | g.47332163T>A | CA380311147 | MYBPC3 | c.3723A>T (p.Arg1241Ser) c.3705A>T (p.Arg1235Ser) c.3642A>T (p.Arg1214Ser) | |
11 | g.47332163T>C | CA474428859 | MYBPC3 | c.3723A>G (p.Arg1241=) c.3705A>G (p.Arg1235=) c.3642A>G (p.Arg1214=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332163T>G | CA380311150 | MYBPC3 | c.3723A>C (p.Arg1241Ser) c.3705A>C (p.Arg1235Ser) c.3642A>C (p.Arg1214Ser) | |
11 | g.47332163T= | CA1969333427 | MYBPC3 | c.3723A= (p.Arg1241=) c.3705A= (p.Arg1235=) c.3642A= (p.Arg1214=) | |
11 | g.47332164C>A | CA380311153 | MYBPC3 | c.3722G>T (p.Arg1241Ile) c.3704G>T (p.Arg1235Ile) c.3641G>T (p.Arg1214Ile) | |
11 | g.47332164C= | CA1969333429 | MYBPC3 | c.3722G= (p.Arg1241=) c.3704G= (p.Arg1235=) c.3641G= (p.Arg1214=) | |
11 | g.47332164C>G | CA380311154 | MYBPC3 | c.3722G>C (p.Arg1241Thr) c.3704G>C (p.Arg1235Thr) c.3641G>C (p.Arg1214Thr) | dbSNP |
11 | g.47332164C>T | CA380311157 | MYBPC3 | c.3722G>A (p.Arg1241Lys) c.3704G>A (p.Arg1235Lys) c.3641G>A (p.Arg1214Lys) | |
11 | g.47332165T>A | CA380311160 | MYBPC3 | c.3721A>T (p.Arg1241Ter) c.3703A>T (p.Arg1235Ter) c.3640A>T (p.Arg1214Ter) | |
11 | g.47332165T>C | CA380311161 | MYBPC3 | c.3721A>G (p.Arg1241Gly) c.3703A>G (p.Arg1235Gly) c.3640A>G (p.Arg1214Gly) | |
11 | g.47332165T>G | CA474428860 | MYBPC3 | c.3721A>C (p.Arg1241=) c.3703A>C (p.Arg1235=) c.3640A>C (p.Arg1214=) | |
11 | g.47332166A= | CA1969333430 | MYBPC3 | c.3720T= (p.Ile1240=) c.3702T= (p.Ile1234=) c.3639T= (p.Ile1213=) | |
11 | g.47332166A>C | CA380311162 | MYBPC3 | c.3720T>G (p.Ile1240Met) c.3702T>G (p.Ile1234Met) c.3639T>G (p.Ile1213Met) | |
11 | g.47332166A>G | CA079517 | MYBPC3 | c.3720T>C (p.Ile1240=) c.3702T>C (p.Ile1234=) c.3639T>C (p.Ile1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332166A>T | CA474428861 | MYBPC3 | c.3720T>A (p.Ile1240=) c.3702T>A (p.Ile1234=) c.3639T>A (p.Ile1213=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332167dup | CA2580615674 | MYBPC3 | c.3720dup (p.Arg1241Ter) c.3702dup (p.Arg1235Ter) c.3639dup (p.Arg1214Ter) | ClinVar |
11 | g.47332167A= | CA1969333432 | MYBPC3 | c.3719T= (p.Ile1240=) c.3701T= (p.Ile1234=) c.3638T= (p.Ile1213=) | |
11 | g.47332167A>C | CA380311166 | MYBPC3 | c.3719T>G (p.Ile1240Ser) c.3701T>G (p.Ile1234Ser) c.3638T>G (p.Ile1213Ser) | |
11 | g.47332167A>G | CA380311167 | MYBPC3 | c.3719T>C (p.Ile1240Thr) c.3701T>C (p.Ile1234Thr) c.3638T>C (p.Ile1213Thr) | |
11 | g.47332167A>T | CA380311169 | MYBPC3 | c.3719T>A (p.Ile1240Asn) c.3701T>A (p.Ile1234Asn) c.3638T>A (p.Ile1213Asn) | ClinVar dbSNP |
11 | g.47332168T>A | CA380311176 | MYBPC3 | c.3718A>T (p.Ile1240Phe) c.3700A>T (p.Ile1234Phe) c.3637A>T (p.Ile1213Phe) | |
11 | g.47332168T>C | CA380311173 | MYBPC3 | c.3718A>G (p.Ile1240Val) c.3700A>G (p.Ile1234Val) c.3637A>G (p.Ile1213Val) | ClinVar |
11 | g.47332168T>G | CA380311172 | MYBPC3 | c.3718A>C (p.Ile1240Leu) c.3700A>C (p.Ile1234Leu) c.3637A>C (p.Ile1213Leu) | |
11 | g.47332168_47332182delinsTCTCCAGAGTCAACA | CA1969333434 | MYBPC3 | c.3704_3718delinsTGTTGACTCTGGAGA (p.Val1235=) c.3686_3700delinsTGTTGACTCTGGAGA (p.Val1229=) c.3623_3637delinsTGTTGACTCTGGAGA (p.Val1208=) | |
11 | g.47332169C>A | CA380311177 | MYBPC3 | c.3717G>T (p.Glu1239Asp) c.3699G>T (p.Glu1233Asp) c.3636G>T (p.Glu1212Asp) | gnomAD v4 |
11 | g.47332169C>G | CA380311178 | MYBPC3 | c.3717G>C (p.Glu1239Asp) c.3699G>C (p.Glu1233Asp) c.3636G>C (p.Glu1212Asp) | |
11 | g.47332169C>T | CA474428862 | MYBPC3 | c.3717G>A (p.Glu1239=) c.3699G>A (p.Glu1233=) c.3636G>A (p.Glu1212=) | |
11 | g.47332170_47332172del | CA2695213899 | MYBPC3 | c.3715_3717del (p.Glu1239del) c.3697_3699del (p.Glu1233del) c.3634_3636del (p.Glu1212del) | |
11 | g.47332173_47332186del | CA937665251 | MYBPC3 | c.3704_3717del (p.Val1235AspfsTer2) c.3686_3699del (p.Val1229AspfsTer2) c.3623_3636del (p.Val1208AspfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332170T>A | CA380311183 | MYBPC3 | c.3716A>T (p.Glu1239Val) c.3698A>T (p.Glu1233Val) c.3635A>T (p.Glu1212Val) | |
11 | g.47332170T>C | CA380311184 | MYBPC3 | c.3716A>G (p.Glu1239Gly) c.3698A>G (p.Glu1233Gly) c.3635A>G (p.Glu1212Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47332170T>G | CA380311186 | MYBPC3 | c.3716A>C (p.Glu1239Ala) c.3698A>C (p.Glu1233Ala) c.3635A>C (p.Glu1212Ala) | |
11 | g.47332170T= | CA1969333435 | MYBPC3 | c.3716A= (p.Glu1239=) c.3698A= (p.Glu1233=) c.3635A= (p.Glu1212=) | |
11 | g.47332171C>A | CA380311191 | MYBPC3 | c.3715G>T (p.Glu1239Ter) c.3697G>T (p.Glu1233Ter) c.3634G>T (p.Glu1212Ter) | |
11 | g.47332171C= | CA1969333437 | MYBPC3 | c.3715G= (p.Glu1239=) c.3697G= (p.Glu1233=) c.3634G= (p.Glu1212=) | |
11 | g.47332171C>G | CA380311189 | MYBPC3 | c.3715G>C (p.Glu1239Gln) c.3697G>C (p.Glu1233Gln) c.3634G>C (p.Glu1212Gln) | |
11 | g.47332171C>T | CA079515 | MYBPC3 | c.3715G>A (p.Glu1239Lys) c.3697G>A (p.Glu1233Lys) c.3634G>A (p.Glu1212Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47332172C>A | CA474428863 | MYBPC3 | c.3714G>T (p.Leu1238=) c.3696G>T (p.Leu1232=) c.3633G>T (p.Leu1211=) | |
11 | g.47332172C>G | CA474428864 | MYBPC3 | c.3714G>C (p.Leu1238=) c.3696G>C (p.Leu1232=) c.3633G>C (p.Leu1211=) | |
11 | g.47332172C>T | CA474428865 | MYBPC3 | c.3714G>A (p.Leu1238=) c.3696G>A (p.Leu1232=) c.3633G>A (p.Leu1211=) | |
11 | g.47332172_47332173del | CA2580084175 | MYBPC3 | c.3713_3714del (p.Leu1238ArgfsTer3) c.3695_3696del (p.Leu1232ArgfsTer3) c.3632_3633del (p.Leu1211ArgfsTer3) | ClinVar |
11 | g.47332172_47332174delinsCAG | CA1969333439 | MYBPC3 | c.3712_3714delinsCTG (p.Leu1238=) c.3694_3696delinsCTG (p.Leu1232=) c.3631_3633delinsCTG (p.Leu1211=) | |
11 | g.47332173A= | CA1969333443 | MYBPC3 | c.3713T= (p.Leu1238=) c.3695T= (p.Leu1232=) c.3632T= (p.Leu1211=) | |
11 | g.47332173A>C | CA380311202 | MYBPC3 | c.3713T>G (p.Leu1238Arg) c.3695T>G (p.Leu1232Arg) c.3632T>G (p.Leu1211Arg) | |
11 | g.47332173A>G | CA014684 | MYBPC3 | c.3713T>C (p.Leu1238Pro) c.3695T>C (p.Leu1232Pro) c.3632T>C (p.Leu1211Pro) | ClinVar dbSNP |
11 | g.47332173A>T | CA380311206 | MYBPC3 | c.3713T>A (p.Leu1238Gln) c.3695T>A (p.Leu1232Gln) c.3632T>A (p.Leu1211Gln) | |
11 | g.47332175_47332176del | CA279582 | MYBPC3 | c.3712_3713del (p.Leu1238GlyfsTer3) c.3694_3695del (p.Leu1232GlyfsTer3) c.3631_3632del (p.Leu1211GlyfsTer3) | ClinVar dbSNP |
11 | g.47332174G>A | CA221681802 | MYBPC3 | c.3712C>T (p.Leu1238=) c.3694C>T (p.Leu1232=) c.3631C>T (p.Leu1211=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332174G>C | CA380311213 | MYBPC3 | c.3712C>G (p.Leu1238Val) c.3694C>G (p.Leu1232Val) c.3631C>G (p.Leu1211Val) | |
11 | g.47332174G= | CA1969333444 | MYBPC3 | c.3712C= (p.Leu1238=) c.3694C= (p.Leu1232=) c.3631C= (p.Leu1211=) | |
11 | g.47332174G>T | CA380311215 | MYBPC3 | c.3712C>A (p.Leu1238Met) c.3694C>A (p.Leu1232Met) c.3631C>A (p.Leu1211Met) | |
11 | g.47332175A= | CA1969333445 | MYBPC3 | c.3711T= (p.Thr1237=) c.3693T= (p.Thr1231=) c.3630T= (p.Thr1210=) | |
11 | g.47332175A>C | CA474428866 | MYBPC3 | c.3711T>G (p.Thr1237=) c.3693T>G (p.Thr1231=) c.3630T>G (p.Thr1210=) | |
11 | g.47332175A>G | CA474428868 | MYBPC3 | c.3711T>C (p.Thr1237=) c.3693T>C (p.Thr1231=) c.3630T>C (p.Thr1210=) | dbSNP |
11 | g.47332175A>T | CA474428867 | MYBPC3 | c.3711T>A (p.Thr1237=) c.3693T>A (p.Thr1231=) c.3630T>A (p.Thr1210=) | |
11 | g.47332176G>A | CA380311217 | MYBPC3 | c.3710C>T (p.Thr1237Ile) c.3692C>T (p.Thr1231Ile) c.3629C>T (p.Thr1210Ile) | |
11 | g.47332176G>C | CA380311221 | MYBPC3 | c.3710C>G (p.Thr1237Ser) c.3692C>G (p.Thr1231Ser) c.3629C>G (p.Thr1210Ser) | |
11 | g.47332176G>T | CA380311220 | MYBPC3 | c.3710C>A (p.Thr1237Asn) c.3692C>A (p.Thr1231Asn) c.3629C>A (p.Thr1210Asn) | |
11 | g.47332177T>A | CA380311223 | MYBPC3 | c.3709A>T (p.Thr1237Ser) c.3691A>T (p.Thr1231Ser) c.3628A>T (p.Thr1210Ser) | |
11 | g.47332177T>C | CA380311226 | MYBPC3 | c.3709A>G (p.Thr1237Ala) c.3691A>G (p.Thr1231Ala) c.3628A>G (p.Thr1210Ala) | |
11 | g.47332177T>G | CA014678 | MYBPC3 | c.3709A>C (p.Thr1237Pro) c.3691A>C (p.Thr1231Pro) c.3628A>C (p.Thr1210Pro) | ClinVar dbSNP |
11 | g.47332177T= | CA1969333446 | MYBPC3 | c.3709A= (p.Thr1237=) c.3691A= (p.Thr1231=) c.3628A= (p.Thr1210=) | |
11 | g.47332178C>A | CA380311232 | MYBPC3 | c.3708G>T (p.Leu1236Phe) c.3690G>T (p.Leu1230Phe) c.3627G>T (p.Leu1209Phe) | |
11 | g.47332178C= | CA1969333450 | MYBPC3 | c.3708G= (p.Leu1236=) c.3690G= (p.Leu1230=) c.3627G= (p.Leu1209=) | |
11 | g.47332178C>G | CA380311237 | MYBPC3 | c.3708G>C (p.Leu1236Phe) c.3690G>C (p.Leu1230Phe) c.3627G>C (p.Leu1209Phe) | |
11 | g.47332178C>T | CA079512 | MYBPC3 | c.3708G>A (p.Leu1236=) c.3690G>A (p.Leu1230=) c.3627G>A (p.Leu1209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332179A= | CA1969333452 | MYBPC3 | c.3707T= (p.Leu1236=) c.3689T= (p.Leu1230=) c.3626T= (p.Leu1209=) | |
11 | g.47332179A>C | CA380311245 | MYBPC3 | c.3707T>G (p.Leu1236Trp) c.3689T>G (p.Leu1230Trp) c.3626T>G (p.Leu1209Trp) | |
11 | g.47332179A>G | CA380311246 | MYBPC3 | c.3707T>C (p.Leu1236Ser) c.3689T>C (p.Leu1230Ser) c.3626T>C (p.Leu1209Ser) | dbSNP |
11 | g.47332179A>T | CA380311249 | MYBPC3 | c.3707T>A (p.Leu1236Ter) c.3689T>A (p.Leu1230Ter) c.3626T>A (p.Leu1209Ter) | |
11 | g.47332180A>C | CA380311254 | MYBPC3 | c.3706T>G (p.Leu1236Val) c.3688T>G (p.Leu1230Val) c.3625T>G (p.Leu1209Val) | |
11 | g.47332180A>G | CA474428869 | MYBPC3 | c.3706T>C (p.Leu1236=) c.3688T>C (p.Leu1230=) c.3625T>C (p.Leu1209=) | |
11 | g.47332180A>T | CA380311256 | MYBPC3 | c.3706T>A (p.Leu1236Met) c.3688T>A (p.Leu1230Met) c.3625T>A (p.Leu1209Met) | |
11 | g.47332181C>A | CA474428870 | MYBPC3 | c.3705G>T (p.Val1235=) c.3687G>T (p.Val1229=) c.3624G>T (p.Val1208=) | |
11 | g.47332181C= | CA1969333453 | MYBPC3 | c.3705G= (p.Val1235=) c.3687G= (p.Val1229=) c.3624G= (p.Val1208=) | |
11 | g.47332181C>G | CA474428871 | MYBPC3 | c.3705G>C (p.Val1235=) c.3687G>C (p.Val1229=) c.3624G>C (p.Val1208=) | |
11 | g.47332181C>T | CA014668 | MYBPC3 | c.3705G>A (p.Val1235=) c.3687G>A (p.Val1229=) c.3624G>A (p.Val1208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332182A= | CA1969333455 | MYBPC3 | c.3704T= (p.Val1235=) c.3686T= (p.Val1229=) c.3623T= (p.Val1208=) | |
11 | g.47332182A>C | CA380311265 | MYBPC3 | c.3704T>G (p.Val1235Gly) c.3686T>G (p.Val1229Gly) c.3623T>G (p.Val1208Gly) | |
11 | g.47332182A>G | CA380311262 | MYBPC3 | c.3704T>C (p.Val1235Ala) c.3686T>C (p.Val1229Ala) c.3623T>C (p.Val1208Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332182A>T | CA380311272 | MYBPC3 | c.3704T>A (p.Val1235Glu) c.3686T>A (p.Val1229Glu) c.3623T>A (p.Val1208Glu) | |
11 | g.47332183C>A | CA380311276 | MYBPC3 | c.3703G>T (p.Val1235Leu) c.3685G>T (p.Val1229Leu) c.3622G>T (p.Val1208Leu) | ClinVar dbSNP |
11 | g.47332183C= | CA1969333457 | MYBPC3 | c.3703G= (p.Val1235=) c.3685G= (p.Val1229=) c.3622G= (p.Val1208=) | |
11 | g.47332183C>G | CA380311280 | MYBPC3 | c.3703G>C (p.Val1235Leu) c.3685G>C (p.Val1229Leu) c.3622G>C (p.Val1208Leu) | |
11 | g.47332183C>T | CA380311283 | MYBPC3 | c.3703G>A (p.Val1235Met) c.3685G>A (p.Val1229Met) c.3622G>A (p.Val1208Met) | |
11 | g.47332184_47332185del | CA2573146357 | MYBPC3 | c.3702_3703del (p.Leu1236AspfsTer5) c.3684_3685del (p.Leu1230AspfsTer5) c.3621_3622del (p.Leu1209AspfsTer5) | ClinVar dbSNP |
11 | g.47332184T>A | CA474428874 | MYBPC3 | c.3702A>T (p.Gly1234=) c.3684A>T (p.Gly1228=) c.3621A>T (p.Gly1207=) | |
11 | g.47332184T>C | CA474428872 | MYBPC3 | c.3702A>G (p.Gly1234=) c.3684A>G (p.Gly1228=) c.3621A>G (p.Gly1207=) | ClinVar gnomAD v4 |
11 | g.47332184T>G | CA474428873 | MYBPC3 | c.3702A>C (p.Gly1234=) c.3684A>C (p.Gly1228=) c.3621A>C (p.Gly1207=) | |
11 | g.47332185C>A | CA380311286 | MYBPC3 | c.3701G>T (p.Gly1234Val) c.3683G>T (p.Gly1228Val) c.3620G>T (p.Gly1207Val) | ClinVar dbSNP |
11 | g.47332185C= | CA1969333458 | MYBPC3 | c.3701G= (p.Gly1234=) c.3683G= (p.Gly1228=) c.3620G= (p.Gly1207=) | |
11 | g.47332185C>G | CA380311287 | MYBPC3 | c.3701G>C (p.Gly1234Ala) c.3683G>C (p.Gly1228Ala) c.3620G>C (p.Gly1207Ala) | |
11 | g.47332185C>T | CA380311291 | MYBPC3 | c.3701G>A (p.Gly1234Glu) c.3683G>A (p.Gly1228Glu) c.3620G>A (p.Gly1207Glu) | ClinVar dbSNP |
11 | g.47332186C>A | CA380311302 | MYBPC3 | c.3700G>T (p.Gly1234Ter) c.3682G>T (p.Gly1228Ter) c.3619G>T (p.Gly1207Ter) | |
11 | g.47332186C= | CA1969333461 | MYBPC3 | c.3700G= (p.Gly1234=) c.3682G= (p.Gly1228=) c.3619G= (p.Gly1207=) | |
11 | g.47332186C>G | CA380311297 | MYBPC3 | c.3700G>C (p.Gly1234Arg) c.3682G>C (p.Gly1228Arg) c.3619G>C (p.Gly1207Arg) | |
11 | g.47332186C>T | CA380311293 | MYBPC3 | c.3700G>A (p.Gly1234Arg) c.3682G>A (p.Gly1228Arg) c.3619G>A (p.Gly1207Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47332186_47332187delinsAG | CA2739270412 | MYBPC3 | c.3699_3700delinsCT (p.Gln1233HisfsTer2) c.3681_3682delinsCT (p.Gln1227HisfsTer2) c.3618_3619delinsCT (p.Gln1206HisfsTer2) | ClinVar |
11 | g.47332187C>A | CA380311305 | MYBPC3 | c.3699G>T (p.Gln1233His) c.3681G>T (p.Gln1227His) c.3618G>T (p.Gln1206His) | |
11 | g.47332187C= | CA1969333463 | MYBPC3 | c.3699G= (p.Gln1233=) c.3681G= (p.Gln1227=) c.3618G= (p.Gln1206=) | |
11 | g.47332187C>G | CA380311306 | MYBPC3 | c.3699G>C (p.Gln1233His) c.3681G>C (p.Gln1227His) c.3618G>C (p.Gln1206His) | ClinVar |
11 | g.47332187C>T | CA014658 | MYBPC3 | c.3699G>A (p.Gln1233=) c.3681G>A (p.Gln1227=) c.3618G>A (p.Gln1206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332188T>A | CA380311309 | MYBPC3 | c.3698A>T (p.Gln1233Leu) c.3680A>T (p.Gln1227Leu) c.3617A>T (p.Gln1206Leu) | |
11 | g.47332188T>C | CA380311310 | MYBPC3 | c.3698A>G (p.Gln1233Arg) c.3680A>G (p.Gln1227Arg) c.3617A>G (p.Gln1206Arg) | |
11 | g.47332188T>G | CA380311312 | MYBPC3 | c.3698A>C (p.Gln1233Pro) c.3680A>C (p.Gln1227Pro) c.3617A>C (p.Gln1206Pro) | |
11 | g.47332189G>A | CA014648 | MYBPC3 | c.3697C>T (p.Gln1233Ter) c.3679C>T (p.Gln1227Ter) c.3616C>T (p.Gln1206Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332189G>C | CA380311316 | MYBPC3 | c.3697C>G (p.Gln1233Glu) c.3679C>G (p.Gln1227Glu) c.3616C>G (p.Gln1206Glu) | gnomAD v4 |
11 | g.47332189G= | CA1969333466 | MYBPC3 | c.3697C= (p.Gln1233=) c.3679C= (p.Gln1227=) c.3616C= (p.Gln1206=) | |
11 | g.47332189G>T | CA380311321 | MYBPC3 | c.3697C>A (p.Gln1233Lys) c.3679C>A (p.Gln1227Lys) c.3616C>A (p.Gln1206Lys) | |
11 | g.47332190C>A | CA380311328 | MYBPC3 | c.3696G>T (p.Lys1232Asn) c.3678G>T (p.Lys1226Asn) c.3615G>T (p.Lys1205Asn) | gnomAD v4 |
11 | g.47332190C= | CA1969333468 | MYBPC3 | c.3696G= (p.Lys1232=) c.3678G= (p.Lys1226=) c.3615G= (p.Lys1205=) | |
11 | g.47332190C>G | CA380311331 | MYBPC3 | c.3696G>C (p.Lys1232Asn) c.3678G>C (p.Lys1226Asn) c.3615G>C (p.Lys1205Asn) | |
11 | g.47332190C>T | CA054739 | MYBPC3 | c.3696G>A (p.Lys1232=) c.3678G>A (p.Lys1226=) c.3615G>A (p.Lys1205=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332191T>A | CA380311335 | MYBPC3 | c.3695A>T (p.Lys1232Met) c.3677A>T (p.Lys1226Met) c.3614A>T (p.Lys1205Met) | |
11 | g.47332191T>C | CA380311338 | MYBPC3 | c.3695A>G (p.Lys1232Arg) c.3677A>G (p.Lys1226Arg) c.3614A>G (p.Lys1205Arg) | |
11 | g.47332191T>G | CA380311351 | MYBPC3 | c.3695A>C (p.Lys1232Thr) c.3677A>C (p.Lys1226Thr) c.3614A>C (p.Lys1205Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332191T= | CA1969333470 | MYBPC3 | c.3695A= (p.Lys1232=) c.3677A= (p.Lys1226=) c.3614A= (p.Lys1205=) | |
11 | g.47332192T>A | CA014642 | MYBPC3 | c.3694A>T (p.Lys1232Ter) c.3676A>T (p.Lys1226Ter) c.3613A>T (p.Lys1205Ter) | ClinVar dbSNP |
11 | g.47332192T>C | CA380311360 | MYBPC3 | c.3694A>G (p.Lys1232Glu) c.3676A>G (p.Lys1226Glu) c.3613A>G (p.Lys1205Glu) | |
11 | g.47332192T>G | CA380311365 | MYBPC3 | c.3694A>C (p.Lys1232Gln) c.3676A>C (p.Lys1226Gln) c.3613A>C (p.Lys1205Gln) | gnomAD v4 |
11 | g.47332192T= | CA1969333471 | MYBPC3 | c.3694A= (p.Lys1232=) c.3676A= (p.Lys1226=) c.3613A= (p.Lys1205=) | |
11 | g.47332193G>A | CA474428875 | MYBPC3 | c.3693C>T (p.Ser1231=) c.3675C>T (p.Ser1225=) c.3612C>T (p.Ser1204=) | |
11 | g.47332193G>C | CA380311369 | MYBPC3 | c.3693C>G (p.Ser1231Arg) c.3675C>G (p.Ser1225Arg) c.3612C>G (p.Ser1204Arg) | |
11 | g.47332193G>T | CA380311374 | MYBPC3 | c.3693C>A (p.Ser1231Arg) c.3675C>A (p.Ser1225Arg) c.3612C>A (p.Ser1204Arg) | |
11 | g.47332194C>A | CA380311379 | MYBPC3 | c.3692G>T (p.Ser1231Ile) c.3674G>T (p.Ser1225Ile) c.3611G>T (p.Ser1204Ile) | |
11 | g.47332194C= | CA1969333474 | MYBPC3 | c.3692G= (p.Ser1231=) c.3674G= (p.Ser1225=) c.3611G= (p.Ser1204=) | |
11 | g.47332194C>G | CA380311382 | MYBPC3 | c.3692G>C (p.Ser1231Thr) c.3674G>C (p.Ser1225Thr) c.3611G>C (p.Ser1204Thr) | dbSNP |
11 | g.47332194C>T | CA380311385 | MYBPC3 | c.3692G>A (p.Ser1231Asn) c.3674G>A (p.Ser1225Asn) c.3611G>A (p.Ser1204Asn) | COSMIC COSMIC |
11 | g.47332194_47332196delinsCTG | CA1969333475 | MYBPC3 | c.3690_3692delinsCAG (p.Phe1230=) c.3672_3674delinsCAG (p.Phe1224=) c.3609_3611delinsCAG (p.Phe1203=) | |
11 | g.47332195T>A | CA380311400 | MYBPC3 | c.3691A>T (p.Ser1231Cys) c.3673A>T (p.Ser1225Cys) c.3610A>T (p.Ser1204Cys) | dbSNP |
11 | g.47332195T>C | CA380311390 | MYBPC3 | c.3691A>G (p.Ser1231Gly) c.3673A>G (p.Ser1225Gly) c.3610A>G (p.Ser1204Gly) | |
11 | g.47332195T>G | CA380311396 | MYBPC3 | c.3691A>C (p.Ser1231Arg) c.3673A>C (p.Ser1225Arg) c.3610A>C (p.Ser1204Arg) | |
11 | g.47332195T= | CA1969333477 | MYBPC3 | c.3691A= (p.Ser1231=) c.3673A= (p.Ser1225=) c.3610A= (p.Ser1204=) | |
11 | g.47332195_47332196del | CA014638 | MYBPC3 | c.3690_3691del (p.Phe1230LeufsTer11) c.3672_3673del (p.Phe1224LeufsTer11) c.3609_3610del (p.Phe1203LeufsTer11) | ClinVar dbSNP gnomAD v4 |
11 | g.47332195_47332198dup | CA2499220958 | MYBPC3 | c.3688_3691dup (p.Ser1231IlefsTer12) c.3670_3673dup (p.Ser1225IlefsTer12) c.3607_3610dup (p.Ser1204IlefsTer12) | ClinVar dbSNP |
11 | g.47332196G>A | CA474428876 | MYBPC3 | c.3690C>T (p.Phe1230=) c.3672C>T (p.Phe1224=) c.3609C>T (p.Phe1203=) | |
11 | g.47332196G>C | CA380311409 | MYBPC3 | c.3690C>G (p.Phe1230Leu) c.3672C>G (p.Phe1224Leu) c.3609C>G (p.Phe1203Leu) | |
11 | g.47332196G>T | CA380311405 | MYBPC3 | c.3690C>A (p.Phe1230Leu) c.3672C>A (p.Phe1224Leu) c.3609C>A (p.Phe1203Leu) | |
11 | g.47332197A>C | CA380311416 | MYBPC3 | c.3689T>G (p.Phe1230Cys) c.3671T>G (p.Phe1224Cys) c.3608T>G (p.Phe1203Cys) | |
11 | g.47332197A>G | CA380311419 | MYBPC3 | c.3689T>C (p.Phe1230Ser) c.3671T>C (p.Phe1224Ser) c.3608T>C (p.Phe1203Ser) | |
11 | g.47332197A>T | CA380311423 | MYBPC3 | c.3689T>A (p.Phe1230Tyr) c.3671T>A (p.Phe1224Tyr) c.3608T>A (p.Phe1203Tyr) | |
11 | g.47332198dup | CA2739291459 | MYBPC3 | c.3689dup (p.Ser1231GlnfsTer11) c.3671dup (p.Ser1225GlnfsTer11) c.3608dup (p.Ser1204GlnfsTer11) | |
11 | g.47332198del | CA2697548538 | MYBPC3 | c.3689del (p.Phe1230SerfsTer7) c.3671del (p.Phe1224SerfsTer7) c.3608del (p.Phe1203SerfsTer7) | ClinVar |
11 | g.47332198A= | CA1969333479 | MYBPC3 | c.3688T= (p.Phe1230=) c.3670T= (p.Phe1224=) c.3607T= (p.Phe1203=) | |
11 | g.47332198A>C | CA380311427 | MYBPC3 | c.3688T>G (p.Phe1230Val) c.3670T>G (p.Phe1224Val) c.3607T>G (p.Phe1203Val) | |
11 | g.47332198A>G | CA380311430 | MYBPC3 | c.3688T>C (p.Phe1230Leu) c.3670T>C (p.Phe1224Leu) c.3607T>C (p.Phe1203Leu) | ClinVar dbSNP |
11 | g.47332198A>T | CA380311434 | MYBPC3 | c.3688T>A (p.Phe1230Ile) c.3670T>A (p.Phe1224Ile) c.3607T>A (p.Phe1203Ile) | |
11 | g.47332199C>A | CA380311438 | MYBPC3 | c.3687G>T (p.Met1229Ile) c.3669G>T (p.Met1223Ile) c.3606G>T (p.Met1202Ile) | |
11 | g.47332199C>G | CA380311442 | MYBPC3 | c.3687G>C (p.Met1229Ile) c.3669G>C (p.Met1223Ile) c.3606G>C (p.Met1202Ile) | |
11 | g.47332199C>T | CA380311445 | MYBPC3 | c.3687G>A (p.Met1229Ile) c.3669G>A (p.Met1223Ile) c.3606G>A (p.Met1202Ile) | |
11 | g.47332200A= | CA1969333481 | MYBPC3 | c.3686T= (p.Met1229=) c.3668T= (p.Met1223=) c.3605T= (p.Met1202=) | |
11 | g.47332200A>C | CA380311448 | MYBPC3 | c.3686T>G (p.Met1229Arg) c.3668T>G (p.Met1223Arg) c.3605T>G (p.Met1202Arg) | |
11 | g.47332200A>G | CA380311452 | MYBPC3 | c.3686T>C (p.Met1229Thr) c.3668T>C (p.Met1223Thr) c.3605T>C (p.Met1202Thr) | ClinVar dbSNP |
11 | g.47332200A>T | CA380311456 | MYBPC3 | c.3686T>A (p.Met1229Lys) c.3668T>A (p.Met1223Lys) c.3605T>A (p.Met1202Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.47332201T>A | CA380311461 | MYBPC3 | c.3685A>T (p.Met1229Leu) c.3667A>T (p.Met1223Leu) c.3604A>T (p.Met1202Leu) | |
11 | g.47332201T>C | CA014628 | MYBPC3 | c.3685A>G (p.Met1229Val) c.3667A>G (p.Met1223Val) c.3604A>G (p.Met1202Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332201T>G | CA380311466 | MYBPC3 | c.3685A>C (p.Met1229Leu) c.3667A>C (p.Met1223Leu) c.3604A>C (p.Met1202Leu) | |
11 | g.47332201T= | CA1969333483 | MYBPC3 | c.3685A= (p.Met1229=) c.3667A= (p.Met1223=) c.3604A= (p.Met1202=) | |
11 | g.47332202G>A | CA474428879 | MYBPC3 | c.3684C>T (p.Arg1228=) c.3666C>T (p.Arg1222=) c.3603C>T (p.Arg1201=) | |
11 | g.47332202G>C | CA474428878 | MYBPC3 | c.3684C>G (p.Arg1228=) c.3666C>G (p.Arg1222=) c.3603C>G (p.Arg1201=) | |
11 | g.47332202G>T | CA474428877 | MYBPC3 | c.3684C>A (p.Arg1228=) c.3666C>A (p.Arg1222=) c.3603C>A (p.Arg1201=) | |
11 | g.47332203_47332204dup | CA2695213902 | MYBPC3 | c.3683_3684dup (p.Met1229AlafsTer9) c.3665_3666dup (p.Met1223AlafsTer9) c.3602_3603dup (p.Met1202AlafsTer9) | |
11 | g.47332203C>A | CA380311470 | MYBPC3 | c.3683G>T (p.Arg1228Leu) c.3665G>T (p.Arg1222Leu) c.3602G>T (p.Arg1201Leu) | gnomAD v4 |
11 | g.47332203C= | CA1969333487 | MYBPC3 | c.3683G= (p.Arg1228=) c.3665G= (p.Arg1222=) c.3602G= (p.Arg1201=) | |
11 | g.47332203C>G | CA014618 | MYBPC3 | c.3683G>C (p.Arg1228Pro) c.3665G>C (p.Arg1222Pro) c.3602G>C (p.Arg1201Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.47332203C>T | CA079505 | MYBPC3 | c.3683G>A (p.Arg1228His) c.3665G>A (p.Arg1222His) c.3602G>A (p.Arg1201His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332204G>A | CA014611 | MYBPC3 | c.3682C>T (p.Arg1228Cys) c.3664C>T (p.Arg1222Cys) c.3601C>T (p.Arg1201Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332204G>C | CA380311475 | MYBPC3 | c.3682C>G (p.Arg1228Gly) c.3664C>G (p.Arg1222Gly) c.3601C>G (p.Arg1201Gly) | |
11 | g.47332204G= | CA1969333490 | MYBPC3 | c.3682C= (p.Arg1228=) c.3664C= (p.Arg1222=) c.3601C= (p.Arg1201=) | |
11 | g.47332204G>T | CA380311478 | MYBPC3 | c.3682C>A (p.Arg1228Ser) c.3664C>A (p.Arg1222Ser) c.3601C>A (p.Arg1201Ser) | |
11 | g.47332205G>A | CA474428881 | MYBPC3 | c.3681C>T (p.Phe1227=) c.3663C>T (p.Phe1221=) c.3600C>T (p.Phe1200=) | ClinVar dbSNP |
11 | g.47332205G>C | CA380311485 | MYBPC3 | c.3681C>G (p.Phe1227Leu) c.3663C>G (p.Phe1221Leu) c.3600C>G (p.Phe1200Leu) | |
11 | g.47332205G= | CA1969333491 | MYBPC3 | c.3681C= (p.Phe1227=) c.3663C= (p.Phe1221=) c.3600C= (p.Phe1200=) | |
11 | g.47332205G>T | CA380311487 | MYBPC3 | c.3681C>A (p.Phe1227Leu) c.3663C>A (p.Phe1221Leu) c.3600C>A (p.Phe1200Leu) | |
11 | g.47332206A>C | CA380311497 | MYBPC3 | c.3680T>G (p.Phe1227Cys) c.3662T>G (p.Phe1221Cys) c.3599T>G (p.Phe1200Cys) | |
11 | g.47332206A>G | CA380311499 | MYBPC3 | c.3680T>C (p.Phe1227Ser) c.3662T>C (p.Phe1221Ser) c.3599T>C (p.Phe1200Ser) | |
11 | g.47332206A>T | CA380311501 | MYBPC3 | c.3680T>A (p.Phe1227Tyr) c.3662T>A (p.Phe1221Tyr) c.3599T>A (p.Phe1200Tyr) | |
11 | g.47332207A= | CA1969333493 | MYBPC3 | c.3679T= (p.Phe1227=) c.3661T= (p.Phe1221=) c.3598T= (p.Phe1200=) | |
11 | g.47332207A>C | CA380311510 | MYBPC3 | c.3679T>G (p.Phe1227Val) c.3661T>G (p.Phe1221Val) c.3598T>G (p.Phe1200Val) | |
11 | g.47332207A>G | CA380311513 | MYBPC3 | c.3679T>C (p.Phe1227Leu) c.3661T>C (p.Phe1221Leu) c.3598T>C (p.Phe1200Leu) | gnomAD v4 |
11 | g.47332207A>T | CA014601 | MYBPC3 | c.3679T>A (p.Phe1227Ile) c.3661T>A (p.Phe1221Ile) c.3598T>A (p.Phe1200Ile) | ClinVar dbSNP |
11 | g.47332208G>A | CA474428885 | MYBPC3 | c.3678C>T (p.Arg1226=) c.3660C>T (p.Arg1220=) c.3597C>T (p.Arg1199=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332208G>C | CA474428886 | MYBPC3 | c.3678C>G (p.Arg1226=) c.3660C>G (p.Arg1220=) c.3597C>G (p.Arg1199=) | |
11 | g.47332208G= | CA1969333494 | MYBPC3 | c.3678C= (p.Arg1226=) c.3660C= (p.Arg1220=) c.3597C= (p.Arg1199=) | |
11 | g.47332208G>T | CA474428887 | MYBPC3 | c.3678C>A (p.Arg1226=) c.3660C>A (p.Arg1220=) c.3597C>A (p.Arg1199=) | |
11 | g.47332209C>A | CA014596 | MYBPC3 | c.3677G>T (p.Arg1226Leu) c.3659G>T (p.Arg1220Leu) c.3596G>T (p.Arg1199Leu) | ClinVar dbSNP |
11 | g.47332209C= | CA1969333497 | MYBPC3 | c.3677G= (p.Arg1226=) c.3659G= (p.Arg1220=) c.3596G= (p.Arg1199=) | |
11 | g.47332209C>G | CA380311524 | MYBPC3 | c.3677G>C (p.Arg1226Pro) c.3659G>C (p.Arg1220Pro) c.3596G>C (p.Arg1199Pro) | |
11 | g.47332209C>T | CA221681842 | MYBPC3 | c.3677G>A (p.Arg1226His) c.3659G>A (p.Arg1220His) c.3596G>A (p.Arg1199His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332209dup | CA2580084178 | MYBPC3 | c.3677dup (p.Phe1227LeufsTer15) c.3659dup (p.Phe1221LeufsTer15) c.3596dup (p.Phe1200LeufsTer15) | ClinVar |
11 | g.47332210G>A | CA014587 | MYBPC3 | c.3676C>T (p.Arg1226Cys) c.3658C>T (p.Arg1220Cys) c.3595C>T (p.Arg1199Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332210G>C | CA380311533 | MYBPC3 | c.3676C>G (p.Arg1226Gly) c.3658C>G (p.Arg1220Gly) c.3595C>G (p.Arg1199Gly) | gnomAD v4 |
11 | g.47332210G= | CA1969333500 | MYBPC3 | c.3676C= (p.Arg1226=) c.3658C= (p.Arg1220=) c.3595C= (p.Arg1199=) | |
11 | g.47332210G>T | CA380311536 | MYBPC3 | c.3676C>A (p.Arg1226Ser) c.3658C>A (p.Arg1220Ser) c.3595C>A (p.Arg1199Ser) | |
11 | g.47332211G>A | CA474428889 | MYBPC3 | c.3675C>T (p.Ala1225=) c.3657C>T (p.Ala1219=) c.3594C>T (p.Ala1198=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332211G>C | CA474428891 | MYBPC3 | c.3675C>G (p.Ala1225=) c.3657C>G (p.Ala1219=) c.3594C>G (p.Ala1198=) | gnomAD v4 |
11 | g.47332211G= | CA1969333503 | MYBPC3 | c.3675C= (p.Ala1225=) c.3657C= (p.Ala1219=) c.3594C= (p.Ala1198=) | |
11 | g.47332211G>T | CA474428890 | MYBPC3 | c.3675C>A (p.Ala1225=) c.3657C>A (p.Ala1219=) c.3594C>A (p.Ala1198=) | |
11 | g.47332212G>A | CA380311540 | MYBPC3 | c.3674C>T (p.Ala1225Val) c.3656C>T (p.Ala1219Val) c.3593C>T (p.Ala1198Val) | gnomAD v4 |
11 | g.47332212G>C | CA380311545 | MYBPC3 | c.3674C>G (p.Ala1225Gly) c.3656C>G (p.Ala1219Gly) c.3593C>G (p.Ala1198Gly) | |
11 | g.47332212G>T | CA380311560 | MYBPC3 | c.3674C>A (p.Ala1225Asp) c.3656C>A (p.Ala1219Asp) c.3593C>A (p.Ala1198Asp) | |
11 | g.47332213C>A | CA380311563 | MYBPC3 | c.3673G>T (p.Ala1225Ser) c.3655G>T (p.Ala1219Ser) c.3592G>T (p.Ala1198Ser) | COSMIC |
11 | g.47332213C= | CA1969333505 | MYBPC3 | c.3673G= (p.Ala1225=) c.3655G= (p.Ala1219=) c.3592G= (p.Ala1198=) | |
11 | g.47332213C>G | CA380311564 | MYBPC3 | c.3673G>C (p.Ala1225Pro) c.3655G>C (p.Ala1219Pro) c.3592G>C (p.Ala1198Pro) | |
11 | g.47332213C>T | CA380311567 | MYBPC3 | c.3673G>A (p.Ala1225Thr) c.3655G>A (p.Ala1219Thr) c.3592G>A (p.Ala1198Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332214G>A | CA014577 | MYBPC3 | c.3672C>T (p.Asp1224=) c.3654C>T (p.Asp1218=) c.3591C>T (p.Asp1197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47332214G>C | CA380311571 | MYBPC3 | c.3672C>G (p.Asp1224Glu) c.3654C>G (p.Asp1218Glu) c.3591C>G (p.Asp1197Glu) | |
11 | g.47332214G= | CA1969333507 | MYBPC3 | c.3672C= (p.Asp1224=) c.3654C= (p.Asp1218=) c.3591C= (p.Asp1197=) | |
11 | g.47332214G>T | CA380311573 | MYBPC3 | c.3672C>A (p.Asp1224Glu) c.3654C>A (p.Asp1218Glu) c.3591C>A (p.Asp1197Glu) | |
11 | g.47332215T>A | CA380311587 | MYBPC3 | c.3671A>T (p.Asp1224Val) c.3653A>T (p.Asp1218Val) c.3590A>T (p.Asp1197Val) | |
11 | g.47332215T>C | CA380311580 | MYBPC3 | c.3671A>G (p.Asp1224Gly) c.3653A>G (p.Asp1218Gly) c.3590A>G (p.Asp1197Gly) | |
11 | g.47332215T>G | CA380311584 | MYBPC3 | c.3671A>C (p.Asp1224Ala) c.3653A>C (p.Asp1218Ala) c.3590A>C (p.Asp1197Ala) | |
11 | g.47332218_47332220del | CA2613355859 | MYBPC3 | c.3669_3671del (p.Glu1223del) c.3651_3653del (p.Glu1217del) c.3588_3590del (p.Glu1196del) | gnomAD v4 |
11 | g.47332216C>A | CA380311591 | MYBPC3 | c.3670G>T (p.Asp1224Tyr) c.3652G>T (p.Asp1218Tyr) c.3589G>T (p.Asp1197Tyr) | |
11 | g.47332216C= | CA1969333509 | MYBPC3 | c.3670G= (p.Asp1224=) c.3652G= (p.Asp1218=) c.3589G= (p.Asp1197=) | |
11 | g.47332216C>G | CA380311599 | MYBPC3 | c.3670G>C (p.Asp1224His) c.3652G>C (p.Asp1218His) c.3589G>C (p.Asp1197His) | dbSNP gnomAD v2 |
11 | g.47332216C>T | CA079499 | MYBPC3 | c.3670G>A (p.Asp1224Asn) c.3652G>A (p.Asp1218Asn) c.3589G>A (p.Asp1197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332217T>A | CA380311604 | MYBPC3 | c.3669A>T (p.Glu1223Asp) c.3651A>T (p.Glu1217Asp) c.3588A>T (p.Glu1196Asp) | ClinVar dbSNP |
11 | g.47332217T>C | CA474428901 | MYBPC3 | c.3669A>G (p.Glu1223=) c.3651A>G (p.Glu1217=) c.3588A>G (p.Glu1196=) | |
11 | g.47332217T>G | CA380311606 | MYBPC3 | c.3669A>C (p.Glu1223Asp) c.3651A>C (p.Glu1217Asp) c.3588A>C (p.Glu1196Asp) | |
11 | g.47332217T= | CA1969333513 | MYBPC3 | c.3669A= (p.Glu1223=) c.3651A= (p.Glu1217=) c.3588A= (p.Glu1196=) | |
11 | g.47332217_47332219delinsTTC | CA1969333512 | MYBPC3 | c.3667_3669delinsGAA (p.Glu1223=) c.3649_3651delinsGAA (p.Glu1217=) c.3586_3588delinsGAA (p.Glu1196=) | |
11 | g.47332218T>A | CA380311612 | MYBPC3 | c.3668A>T (p.Glu1223Val) c.3650A>T (p.Glu1217Val) c.3587A>T (p.Glu1196Val) | |
11 | g.47332218T>C | CA079496 | MYBPC3 | c.3668A>G (p.Glu1223Gly) c.3650A>G (p.Glu1217Gly) c.3587A>G (p.Glu1196Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332218T>G | CA380311619 | MYBPC3 | c.3668A>C (p.Glu1223Ala) c.3650A>C (p.Glu1217Ala) c.3587A>C (p.Glu1196Ala) | |
11 | g.47332218T= | CA1969333517 | MYBPC3 | c.3668A= (p.Glu1223=) c.3650A= (p.Glu1217=) c.3587A= (p.Glu1196=) | |
11 | g.47332220_47332221del | CA658820693 | MYBPC3 | c.3667_3668del (p.Glu1223ArgfsTer18) c.3649_3650del (p.Glu1217ArgfsTer18) c.3586_3587del (p.Glu1196ArgfsTer18) | ClinVar dbSNP |