Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332093_47332104delinsCACACCGTGCCTCA1969333230MYBPC3c.3782_3793delinsAGGCACGGTGTG (p.Glu1261=)
c.3764_3775delinsAGGCACGGTGTG (p.Glu1255=)
c.3701_3712delinsAGGCACGGTGTG (p.Glu1234=)
11g.47332094_47332104delinsCAGGCA645294065MYBPC3c.3782_3792delinsCCTG (p.Glu1261AlafsTer?)
c.3764_3774delinsCCTG (p.Glu1255AlafsTer?)
c.3701_3711delinsCCTG (p.Glu1234AlafsTer?)
 ClinVar dbSNP
11g.47332100T>ACA474428826MYBPC3c.3786A>T (p.Ala1262=)
c.3768A>T (p.Ala1256=)
c.3705A>T (p.Ala1235=)
11g.47332100T>CCA474428827MYBPC3c.3786A>G (p.Ala1262=)
c.3768A>G (p.Ala1256=)
c.3705A>G (p.Ala1235=)
11g.47332100T>GCA474428828MYBPC3c.3786A>C (p.Ala1262=)
c.3768A>C (p.Ala1256=)
c.3705A>C (p.Ala1235=)
11g.47332101G>ACA380310523MYBPC3c.3785C>T (p.Ala1262Val)
c.3767C>T (p.Ala1256Val)
c.3704C>T (p.Ala1235Val)
 ClinVar dbSNP
11g.47332101G>CCA380310519MYBPC3c.3785C>G (p.Ala1262Gly)
c.3767C>G (p.Ala1256Gly)
c.3704C>G (p.Ala1235Gly)
11g.47332101G=CA1969333255MYBPC3c.3785C= (p.Ala1262=)
c.3767C= (p.Ala1256=)
c.3704C= (p.Ala1235=)
11g.47332101G>TCA380310521MYBPC3c.3785C>A (p.Ala1262Glu)
c.3767C>A (p.Ala1256Glu)
c.3704C>A (p.Ala1235Glu)
11g.47332104_47332108delCA2695213890MYBPC3c.3781_3785del (p.Glu1261ThrfsTer3)
c.3763_3767del (p.Glu1255ThrfsTer3)
c.3700_3704del (p.Glu1234ThrfsTer3)
11g.47332102C>ACA380310528MYBPC3c.3784G>T (p.Ala1262Ser)
c.3766G>T (p.Ala1256Ser)
c.3703G>T (p.Ala1235Ser)
11g.47332102C>GCA380310529MYBPC3c.3784G>C (p.Ala1262Pro)
c.3766G>C (p.Ala1256Pro)
c.3703G>C (p.Ala1235Pro)
11g.47332102C>TCA380310530MYBPC3c.3784G>A (p.Ala1262Thr)
c.3766G>A (p.Ala1256Thr)
c.3703G>A (p.Ala1235Thr)
 ClinVar gnomAD v4 COSMIC COSMIC
11g.47332103_47332105dupCA2580615672MYBPC3c.3782_3784dup (p.Glu1261_Ala1262insGlu)
c.3764_3766dup (p.Glu1255_Ala1256insGlu)
c.3701_3703dup (p.Glu1234_Ala1235insGlu)
 ClinVar
11g.47332103C>ACA380310533MYBPC3c.3783G>T (p.Glu1261Asp)
c.3765G>T (p.Glu1255Asp)
c.3702G>T (p.Glu1234Asp)
11g.47332103C=CA1969333260MYBPC3c.3783G= (p.Glu1261=)
c.3765G= (p.Glu1255=)
c.3702G= (p.Glu1234=)
11g.47332103C>GCA380310536MYBPC3c.3783G>C (p.Glu1261Asp)
c.3765G>C (p.Glu1255Asp)
c.3702G>C (p.Glu1234Asp)
11g.47332103C>TCA221681738MYBPC3c.3783G>A (p.Glu1261=)
c.3765G>A (p.Glu1255=)
c.3702G>A (p.Glu1234=)
 ClinVar dbSNP
11g.47332104T>ACA380310540MYBPC3c.3782A>T (p.Glu1261Val)
c.3764A>T (p.Glu1255Val)
c.3701A>T (p.Glu1234Val)
11g.47332104T>CCA380310543MYBPC3c.3782A>G (p.Glu1261Gly)
c.3764A>G (p.Glu1255Gly)
c.3701A>G (p.Glu1234Gly)
11g.47332104T>GCA380310555MYBPC3c.3782A>C (p.Glu1261Ala)
c.3764A>C (p.Glu1255Ala)
c.3701A>C (p.Glu1234Ala)
11g.47332105C>ACA380310562MYBPC3c.3781G>T (p.Glu1261Ter)
c.3763G>T (p.Glu1255Ter)
c.3700G>T (p.Glu1234Ter)
 ClinVar dbSNP
11g.47332105C=CA1969333265MYBPC3c.3781G= (p.Glu1261=)
c.3763G= (p.Glu1255=)
c.3700G= (p.Glu1234=)
11g.47332105C>GCA380310565MYBPC3c.3781G>C (p.Glu1261Gln)
c.3763G>C (p.Glu1255Gln)
c.3700G>C (p.Glu1234Gln)
 ClinVar dbSNP gnomAD v4
11g.47332105C>TCA014880MYBPC3c.3781G>A (p.Glu1261Lys)
c.3763G>A (p.Glu1255Lys)
c.3700G>A (p.Glu1234Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>ACA079541MYBPC3c.3780C>T (p.Gly1260=)
c.3762C>T (p.Gly1254=)
c.3699C>T (p.Gly1233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>CCA474428829MYBPC3c.3780C>G (p.Gly1260=)
c.3762C>G (p.Gly1254=)
c.3699C>G (p.Gly1233=)
11g.47332106G=CA1969333277MYBPC3c.3780C= (p.Gly1260=)
c.3762C= (p.Gly1254=)
c.3699C= (p.Gly1233=)
11g.47332106G>TCA474428830MYBPC3c.3780C>A (p.Gly1260=)
c.3762C>A (p.Gly1254=)
c.3699C>A (p.Gly1233=)
11g.47332107C>ACA380310574MYBPC3c.3779G>T (p.Gly1260Val)
c.3761G>T (p.Gly1254Val)
c.3698G>T (p.Gly1233Val)
11g.47332107C=CA1969333283MYBPC3c.3779G= (p.Gly1260=)
c.3761G= (p.Gly1254=)
c.3698G= (p.Gly1233=)
11g.47332107C>GCA380310587MYBPC3c.3779G>C (p.Gly1260Ala)
c.3761G>C (p.Gly1254Ala)
c.3698G>C (p.Gly1233Ala)
11g.47332107C>TCA014871MYBPC3c.3779G>A (p.Gly1260Asp)
c.3761G>A (p.Gly1254Asp)
c.3698G>A (p.Gly1233Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332109delCA2580084169MYBPC3c.3779del (p.Gly1260AlafsTer?)
c.3761del (p.Gly1254AlafsTer?)
c.3698del (p.Gly1233AlafsTer?)
 ClinVar
11g.47332108C>ACA380310592MYBPC3c.3778G>T (p.Gly1260Cys)
c.3760G>T (p.Gly1254Cys)
c.3697G>T (p.Gly1233Cys)
11g.47332108C=CA1969333290MYBPC3c.3778G= (p.Gly1260=)
c.3760G= (p.Gly1254=)
c.3697G= (p.Gly1233=)
11g.47332108C>GCA380310595MYBPC3c.3778G>C (p.Gly1260Arg)
c.3760G>C (p.Gly1254Arg)
c.3697G>C (p.Gly1233Arg)
 ClinVar dbSNP gnomAD v4
11g.47332108C>TCA054928MYBPC3c.3778G>A (p.Gly1260Ser)
c.3760G>A (p.Gly1254Ser)
c.3697G>A (p.Gly1233Ser)
 gnomAD v4
11g.47332109C>ACA380310605MYBPC3c.3777G>T (p.Gln1259His)
c.3759G>T (p.Gln1253His)
c.3696G>T (p.Gln1232His)
11g.47332109C=CA1969333302MYBPC3c.3777G= (p.Gln1259=)
c.3759G= (p.Gln1253=)
c.3696G= (p.Gln1232=)
11g.47332109C>GCA079539MYBPC3c.3777G>C (p.Gln1259His)
c.3759G>C (p.Gln1253His)
c.3696G>C (p.Gln1232His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332109C>TCA079537MYBPC3c.3777G>A (p.Gln1259=)
c.3759G>A (p.Gln1253=)
c.3696G>A (p.Gln1232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332109_47332110delinsCTCA1969333300MYBPC3c.3776_3777delinsAG (p.Gln1259=)
c.3758_3759delinsAG (p.Gln1253=)
c.3695_3696delinsAG (p.Gln1232=)
11g.47332110delCA014863MYBPC3c.3776del (p.Gln1259ArgfsTer?)
c.3758del (p.Gln1253ArgfsTer?)
c.3695del (p.Gln1232ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332110T>ACA380310621MYBPC3c.3776A>T (p.Gln1259Leu)
c.3758A>T (p.Gln1253Leu)
c.3695A>T (p.Gln1232Leu)
11g.47332110T>CCA380310618MYBPC3c.3776A>G (p.Gln1259Arg)
c.3758A>G (p.Gln1253Arg)
c.3695A>G (p.Gln1232Arg)
11g.47332110T>GCA380310614MYBPC3c.3776A>C (p.Gln1259Pro)
c.3758A>C (p.Gln1253Pro)
c.3695A>C (p.Gln1232Pro)
11g.47332111G>ACA014855MYBPC3c.3775C>T (p.Gln1259Ter)
c.3757C>T (p.Gln1253Ter)
c.3694C>T (p.Gln1232Ter)
 ClinVar dbSNP gnomAD v4
11g.47332111G>CCA380310639MYBPC3c.3775C>G (p.Gln1259Glu)
c.3757C>G (p.Gln1253Glu)
c.3694C>G (p.Gln1232Glu)
11g.47332111G=CA1969333316MYBPC3c.3775C= (p.Gln1259=)
c.3757C= (p.Gln1253=)
c.3694C= (p.Gln1232=)
11g.47332111G>TCA380310643MYBPC3c.3775C>A (p.Gln1259Lys)
c.3757C>A (p.Gln1253Lys)
c.3694C>A (p.Gln1232Lys)
 gnomAD v4
11g.47332112T>ACA380310647MYBPC3c.3774A>T (p.Leu1258Phe)
c.3756A>T (p.Leu1252Phe)
c.3693A>T (p.Leu1231Phe)
11g.47332112T>CCA474428831MYBPC3c.3774A>G (p.Leu1258=)
c.3756A>G (p.Leu1252=)
c.3693A>G (p.Leu1231=)
 dbSNP
11g.47332112T>GCA380310655MYBPC3c.3774A>C (p.Leu1258Phe)
c.3756A>C (p.Leu1252Phe)
c.3693A>C (p.Leu1231Phe)
11g.47332112T=CA1969333319MYBPC3c.3774A= (p.Leu1258=)
c.3756A= (p.Leu1252=)
c.3693A= (p.Leu1231=)
11g.47332113A=CA1969333325MYBPC3c.3773T= (p.Leu1258=)
c.3755T= (p.Leu1252=)
c.3692T= (p.Leu1231=)
11g.47332113A>CCA014846MYBPC3c.3773T>G (p.Leu1258Ter)
c.3755T>G (p.Leu1252Ter)
c.3692T>G (p.Leu1231Ter)
 ClinVar dbSNP gnomAD v4
11g.47332113A>GCA380310666MYBPC3c.3773T>C (p.Leu1258Ser)
c.3755T>C (p.Leu1252Ser)
c.3692T>C (p.Leu1231Ser)
 ClinVar dbSNP
11g.47332113A>TCA380310661MYBPC3c.3773T>A (p.Leu1258Ter)
c.3755T>A (p.Leu1252Ter)
c.3692T>A (p.Leu1231Ter)
 ClinVar dbSNP
11g.47332114A>CCA380310669MYBPC3c.3772T>G (p.Leu1258Val)
c.3754T>G (p.Leu1252Val)
c.3691T>G (p.Leu1231Val)
11g.47332114A>GCA474428832MYBPC3c.3772T>C (p.Leu1258=)
c.3754T>C (p.Leu1252=)
c.3691T>C (p.Leu1231=)
11g.47332114A>TCA380310672MYBPC3c.3772T>A (p.Leu1258Ile)
c.3754T>A (p.Leu1252Ile)
c.3691T>A (p.Leu1231Ile)
11g.47332115G>ACA474428833MYBPC3c.3771C>T (p.Asn1257=)
c.3753C>T (p.Asn1251=)
c.3690C>T (p.Asn1230=)
 gnomAD v4
11g.47332115G>CCA380310675MYBPC3c.3771C>G (p.Asn1257Lys)
c.3753C>G (p.Asn1251Lys)
c.3690C>G (p.Asn1230Lys)
11g.47332115G=CA1969333334MYBPC3c.3771C= (p.Asn1257=)
c.3753C= (p.Asn1251=)
c.3690C= (p.Asn1230=)
11g.47332115G>TCA014838MYBPC3c.3771C>A (p.Asn1257Lys)
c.3753C>A (p.Asn1251Lys)
c.3690C>A (p.Asn1230Lys)
 ClinVar dbSNP
11g.47332117_47332120delCA2573146355MYBPC3c.3768_3771del (p.Asn1257TyrfsTer?)
c.3750_3753del (p.Asn1251TyrfsTer?)
c.3687_3690del (p.Asn1230TyrfsTer?)
 ClinVar dbSNP
11g.47332116T>ACA380310683MYBPC3c.3770A>T (p.Asn1257Ile)
c.3752A>T (p.Asn1251Ile)
c.3689A>T (p.Asn1230Ile)
11g.47332116T>CCA380310685MYBPC3c.3770A>G (p.Asn1257Ser)
c.3752A>G (p.Asn1251Ser)
c.3689A>G (p.Asn1230Ser)
 ClinVar dbSNP COSMIC COSMIC
11g.47332116T>GCA380310687MYBPC3c.3770A>C (p.Asn1257Thr)
c.3752A>C (p.Asn1251Thr)
c.3689A>C (p.Asn1230Thr)
11g.47332116_47332119delinsTTGGCA1969333340MYBPC3c.3767_3770delinsCCAA (p.Thr1256=)
c.3749_3752delinsCCAA (p.Thr1250=)
c.3686_3689delinsCCAA (p.Thr1229=)
11g.47332117T>ACA380310692MYBPC3c.3769A>T (p.Asn1257Tyr)
c.3751A>T (p.Asn1251Tyr)
c.3688A>T (p.Asn1230Tyr)
11g.47332117T>CCA380310693MYBPC3c.3769A>G (p.Asn1257Asp)
c.3751A>G (p.Asn1251Asp)
c.3688A>G (p.Asn1230Asp)
 dbSNP
11g.47332117T>GCA380310694MYBPC3c.3769A>C (p.Asn1257His)
c.3751A>C (p.Asn1251His)
c.3688A>C (p.Asn1230His)
11g.47332117T=CA1969333344MYBPC3c.3769A= (p.Asn1257=)
c.3751A= (p.Asn1251=)
c.3688A= (p.Asn1230=)
11g.47332120_47332122delCA014829MYBPC3c.3767_3769del (p.Thr1256del)
c.3749_3751del (p.Thr1250del)
c.3686_3688del (p.Thr1229del)
 ClinVar dbSNP gnomAD v4
11g.47332118G>ACA474428835MYBPC3c.3768C>T (p.Thr1256=)
c.3750C>T (p.Thr1250=)
c.3687C>T (p.Thr1229=)
11g.47332118G>CCA474428836MYBPC3c.3768C>G (p.Thr1256=)
c.3750C>G (p.Thr1250=)
c.3687C>G (p.Thr1229=)
11g.47332118G=CA1969333346MYBPC3c.3768C= (p.Thr1256=)
c.3750C= (p.Thr1250=)
c.3687C= (p.Thr1229=)
11g.47332118G>TCA474428834MYBPC3c.3768C>A (p.Thr1256=)
c.3750C>A (p.Thr1250=)
c.3687C>A (p.Thr1229=)
 dbSNP gnomAD v2 gnomAD v4
11g.47332118_47332119delCA2695213892MYBPC3c.3767_3768del (p.Thr1256LysfsTer9)
c.3749_3750del (p.Thr1250LysfsTer9)
c.3686_3687del (p.Thr1229LysfsTer9)
11g.47332119G>ACA055192MYBPC3c.3767C>T (p.Thr1256Ile)
c.3749C>T (p.Thr1250Ile)
c.3686C>T (p.Thr1229Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332119G>CCA380310704MYBPC3c.3767C>G (p.Thr1256Ser)
c.3749C>G (p.Thr1250Ser)
c.3686C>G (p.Thr1229Ser)
11g.47332119G=CA1969333348MYBPC3c.3767C= (p.Thr1256=)
c.3749C= (p.Thr1250=)
c.3686C= (p.Thr1229=)
11g.47332119G>TCA380310701MYBPC3c.3767C>A (p.Thr1256Asn)
c.3749C>A (p.Thr1250Asn)
c.3686C>A (p.Thr1229Asn)
11g.47332119_47332120delinsGTCA1969333350MYBPC3c.3766_3767delinsAC (p.Thr1256=)
c.3748_3749delinsAC (p.Thr1250=)
c.3685_3686delinsAC (p.Thr1229=)
11g.47332120delCA1139659380MYBPC3c.3766del (p.Thr1256ProfsTer?)
c.3748del (p.Thr1250ProfsTer?)
c.3685del (p.Thr1229ProfsTer?)
 ClinVar dbSNP
11g.47332120T>ACA380310708MYBPC3c.3766A>T (p.Thr1256Ser)
c.3748A>T (p.Thr1250Ser)
c.3685A>T (p.Thr1229Ser)
11g.47332120T>CCA380310712MYBPC3c.3766A>G (p.Thr1256Ala)
c.3748A>G (p.Thr1250Ala)
c.3685A>G (p.Thr1229Ala)
11g.47332120T>GCA380310715MYBPC3c.3766A>C (p.Thr1256Pro)
c.3748A>C (p.Thr1250Pro)
c.3685A>C (p.Thr1229Pro)
11g.47332120dupCA2695213893MYBPC3c.3766dup (p.Thr1256AsnfsTer10)
c.3748dup (p.Thr1250AsnfsTer10)
c.3685dup (p.Thr1229AsnfsTer10)
11g.47332121G>ACA474428837MYBPC3c.3765C>T (p.Ala1255=)
c.3747C>T (p.Ala1249=)
c.3684C>T (p.Ala1228=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332121G>CCA474428838MYBPC3c.3765C>G (p.Ala1255=)
c.3747C>G (p.Ala1249=)
c.3684C>G (p.Ala1228=)
 ClinVar dbSNP
11g.47332121G=CA1969333355MYBPC3c.3765C= (p.Ala1255=)
c.3747C= (p.Ala1249=)
c.3684C= (p.Ala1228=)
11g.47332121G>TCA474428839MYBPC3c.3765C>A (p.Ala1255=)
c.3747C>A (p.Ala1249=)
c.3684C>A (p.Ala1228=)
11g.47332122G>ACA054887MYBPC3c.3764C>T (p.Ala1255Val)
c.3746C>T (p.Ala1249Val)
c.3683C>T (p.Ala1228Val)
11g.47332122G>CCA221681757MYBPC3c.3764C>G (p.Ala1255Gly)
c.3746C>G (p.Ala1249Gly)
c.3683C>G (p.Ala1228Gly)
 ClinVar dbSNP gnomAD v4
11g.47332122G=CA1969333361MYBPC3c.3764C= (p.Ala1255=)
c.3746C= (p.Ala1249=)
c.3683C= (p.Ala1228=)
11g.47332122G>TCA014820MYBPC3c.3764C>A (p.Ala1255Asp)
c.3746C>A (p.Ala1249Asp)
c.3683C>A (p.Ala1228Asp)
 ClinVar dbSNP
11g.47332122_47332123delinsGCCA1969333364MYBPC3c.3763_3764delinsGC (p.Ala1255=)
c.3745_3746delinsGC (p.Ala1249=)
c.3682_3683delinsGC (p.Ala1228=)
11g.47332123C>ACA380310729MYBPC3c.3763G>T (p.Ala1255Ser)
c.3745G>T (p.Ala1249Ser)
c.3682G>T (p.Ala1228Ser)
11g.47332123C=CA1969333367MYBPC3c.3763G= (p.Ala1255=)
c.3745G= (p.Ala1249=)
c.3682G= (p.Ala1228=)
11g.47332123C>GCA380310734MYBPC3c.3763G>C (p.Ala1255Pro)
c.3745G>C (p.Ala1249Pro)
c.3682G>C (p.Ala1228Pro)
11g.47332123C>TCA014812MYBPC3c.3763G>A (p.Ala1255Thr)
c.3745G>A (p.Ala1249Thr)
c.3682G>A (p.Ala1228Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332125delCA014805MYBPC3c.3763del (p.Ala1255ProfsTer?)
c.3745del (p.Ala1249ProfsTer?)
c.3682del (p.Ala1228ProfsTer?)
 ClinVar dbSNP
11g.47332124C>ACA380310744MYBPC3c.3762G>T (p.Arg1254Ser)
c.3744G>T (p.Arg1248Ser)
c.3681G>T (p.Arg1227Ser)
11g.47332124C=CA1969333368MYBPC3c.3762G= (p.Arg1254=)
c.3744G= (p.Arg1248=)
c.3681G= (p.Arg1227=)
11g.47332124C>GCA380310749MYBPC3c.3762G>C (p.Arg1254Ser)
c.3744G>C (p.Arg1248Ser)
c.3681G>C (p.Arg1227Ser)
11g.47332124C>TCA079533MYBPC3c.3762G>A (p.Arg1254=)
c.3744G>A (p.Arg1248=)
c.3681G>A (p.Arg1227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332125C>ACA380310761MYBPC3c.3761G>T (p.Arg1254Met)
c.3743G>T (p.Arg1248Met)
c.3680G>T (p.Arg1227Met)
11g.47332125C>GCA380310768MYBPC3c.3761G>C (p.Arg1254Thr)
c.3743G>C (p.Arg1248Thr)
c.3680G>C (p.Arg1227Thr)
11g.47332125C>TCA380310764MYBPC3c.3761G>A (p.Arg1254Lys)
c.3743G>A (p.Arg1248Lys)
c.3680G>A (p.Arg1227Lys)
11g.47332126T>ACA380310773MYBPC3c.3760A>T (p.Arg1254Trp)
c.3742A>T (p.Arg1248Trp)
c.3679A>T (p.Arg1227Trp)
11g.47332126T>CCA380310776MYBPC3c.3760A>G (p.Arg1254Gly)
c.3742A>G (p.Arg1248Gly)
c.3679A>G (p.Arg1227Gly)
 ClinVar gnomAD v4
11g.47332126T>GCA474428840MYBPC3c.3760A>C (p.Arg1254=)
c.3742A>C (p.Arg1248=)
c.3679A>C (p.Arg1227=)
11g.47332126T=CA1969333369MYBPC3c.3760A= (p.Arg1254=)
c.3742A= (p.Arg1248=)
c.3679A= (p.Arg1227=)
11g.47332127G>ACA474428841MYBPC3c.3759C>T (p.Cys1253=)
c.3741C>T (p.Cys1247=)
c.3678C>T (p.Cys1226=)
11g.47332127G>CCA380310805MYBPC3c.3759C>G (p.Cys1253Trp)
c.3741C>G (p.Cys1247Trp)
c.3678C>G (p.Cys1226Trp)
11g.47332127G>TCA380310809MYBPC3c.3759C>A (p.Cys1253Ter)
c.3741C>A (p.Cys1247Ter)
c.3678C>A (p.Cys1226Ter)
11g.47332127dupCA1139659381MYBPC3c.3759dup (p.Arg1254GlnfsTer12)
c.3741dup (p.Arg1248GlnfsTer12)
c.3678dup (p.Arg1227GlnfsTer12)
 ClinVar dbSNP
11g.47332127_47332142delinsGCAGACATAGATGCCCCA1969333371MYBPC3c.3744_3759delinsGGGCATCTATGTCTGC (p.Gly1248=)
c.3726_3741delinsGGGCATCTATGTCTGC (p.Gly1242=)
c.3663_3678delinsGGGCATCTATGTCTGC (p.Gly1221=)
11g.47332128_47332145dupCA014796MYBPC3c.3742_3759dup (p.Cys1253_Arg1254insGlyGlyIleTyrValCys)
c.3724_3741dup (p.Cys1247_Arg1248insGlyGlyIleTyrValCys)
c.3661_3678dup (p.Cys1226_Arg1227insGlyGlyIleTyrValCys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332128_47332145delCA2695213894MYBPC3c.3742_3759del (p.Gly1248_Cys1253del)
c.3724_3741del (p.Gly1242_Cys1247del)
c.3661_3678del (p.Gly1221_Cys1226del)
11g.47332128C>ACA380310819MYBPC3c.3758G>T (p.Cys1253Phe)
c.3740G>T (p.Cys1247Phe)
c.3677G>T (p.Cys1226Phe)
11g.47332128C>GCA380310822MYBPC3c.3758G>C (p.Cys1253Ser)
c.3740G>C (p.Cys1247Ser)
c.3677G>C (p.Cys1226Ser)
11g.47332128C>TCA380310824MYBPC3c.3758G>A (p.Cys1253Tyr)
c.3740G>A (p.Cys1247Tyr)
c.3677G>A (p.Cys1226Tyr)
 ClinVar
11g.47332129_47332143delCA014740MYBPC3c.3744_3758del (p.Gly1249_Cys1253del)
c.3726_3740del (p.Gly1243_Cys1247del)
c.3663_3677del (p.Gly1222_Cys1226del)
 ClinVar dbSNP
11g.47332128_47332144dupCA1139771138MYBPC3c.3742_3758dup (p.Cys1253TrpfsTer?)
c.3724_3740dup (p.Cys1247TrpfsTer?)
c.3661_3677dup (p.Cys1226TrpfsTer?)
11g.47332129A>CCA380310841MYBPC3c.3757T>G (p.Cys1253Gly)
c.3739T>G (p.Cys1247Gly)
c.3676T>G (p.Cys1226Gly)
11g.47332129A>GCA380310845MYBPC3c.3757T>C (p.Cys1253Arg)
c.3739T>C (p.Cys1247Arg)
c.3676T>C (p.Cys1226Arg)
11g.47332129A>TCA380310835MYBPC3c.3757T>A (p.Cys1253Ser)
c.3739T>A (p.Cys1247Ser)
c.3676T>A (p.Cys1226Ser)
 ClinVar
11g.47332130G>ACA474428842MYBPC3c.3756C>T (p.Val1252=)
c.3738C>T (p.Val1246=)
c.3675C>T (p.Val1225=)
11g.47332130G>CCA079531MYBPC3c.3756C>G (p.Val1252=)
c.3738C>G (p.Val1246=)
c.3675C>G (p.Val1225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332130G=CA1969333374MYBPC3c.3756C= (p.Val1252=)
c.3738C= (p.Val1246=)
c.3675C= (p.Val1225=)
11g.47332130G>TCA474428843MYBPC3c.3756C>A (p.Val1252=)
c.3738C>A (p.Val1246=)
c.3675C>A (p.Val1225=)
11g.47332131A=CA1969333375MYBPC3c.3755T= (p.Val1252=)
c.3737T= (p.Val1246=)
c.3674T= (p.Val1225=)
11g.47332131A>CCA380310852MYBPC3c.3755T>G (p.Val1252Gly)
c.3737T>G (p.Val1246Gly)
c.3674T>G (p.Val1225Gly)
11g.47332131A>GCA380310856MYBPC3c.3755T>C (p.Val1252Ala)
c.3737T>C (p.Val1246Ala)
c.3674T>C (p.Val1225Ala)
11g.47332131A>TCA380310857MYBPC3c.3755T>A (p.Val1252Asp)
c.3737T>A (p.Val1246Asp)
c.3674T>A (p.Val1225Asp)
 dbSNP gnomAD v2
11g.47332132C>ACA380310860MYBPC3c.3754G>T (p.Val1252Phe)
c.3736G>T (p.Val1246Phe)
c.3673G>T (p.Val1225Phe)
11g.47332132C=CA1969333377MYBPC3c.3754G= (p.Val1252=)
c.3736G= (p.Val1246=)
c.3673G= (p.Val1225=)
11g.47332132C>GCA380310862MYBPC3c.3754G>C (p.Val1252Leu)
c.3736G>C (p.Val1246Leu)
c.3673G>C (p.Val1225Leu)
11g.47332132C>TCA380310866MYBPC3c.3754G>A (p.Val1252Ile)
c.3736G>A (p.Val1246Ile)
c.3673G>A (p.Val1225Ile)
 ClinVar dbSNP gnomAD v4
11g.47332132_47332134delinsCATCA1969333378MYBPC3c.3752_3754delinsATG (p.Tyr1251=)
c.3734_3736delinsATG (p.Tyr1245=)
c.3671_3673delinsATG (p.Tyr1224=)
11g.47332133A=CA1969333380MYBPC3c.3753T= (p.Tyr1251=)
c.3735T= (p.Tyr1245=)
c.3672T= (p.Tyr1224=)
11g.47332133A>CCA014787MYBPC3c.3753T>G (p.Tyr1251Ter)
c.3735T>G (p.Tyr1245Ter)
c.3672T>G (p.Tyr1224Ter)
 ClinVar dbSNP
11g.47332133A>GCA014777MYBPC3c.3753T>C (p.Tyr1251=)
c.3735T>C (p.Tyr1245=)
c.3672T>C (p.Tyr1224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332133A>TCA380310879MYBPC3c.3753T>A (p.Tyr1251Ter)
c.3735T>A (p.Tyr1245Ter)
c.3672T>A (p.Tyr1224Ter)
11g.47332134_47332135delCA1139659382MYBPC3c.3752_3753del (p.Tyr1251CysfsTer14)
c.3734_3735del (p.Tyr1245CysfsTer14)
c.3671_3672del (p.Tyr1224CysfsTer14)
 ClinVar dbSNP gnomAD v4
11g.47332134T>ACA380310882MYBPC3c.3752A>T (p.Tyr1251Phe)
c.3734A>T (p.Tyr1245Phe)
c.3671A>T (p.Tyr1224Phe)
11g.47332134T>CCA014770MYBPC3c.3752A>G (p.Tyr1251Cys)
c.3734A>G (p.Tyr1245Cys)
c.3671A>G (p.Tyr1224Cys)
 ClinVar dbSNP gnomAD v4
11g.47332134T>GCA380310892MYBPC3c.3752A>C (p.Tyr1251Ser)
c.3734A>C (p.Tyr1245Ser)
c.3671A>C (p.Tyr1224Ser)
11g.47332134T=CA1969333383MYBPC3c.3752A= (p.Tyr1251=)
c.3734A= (p.Tyr1245=)
c.3671A= (p.Tyr1224=)
11g.47332134dupCA2697548534MYBPC3c.3752dup (p.Tyr1251Ter)
c.3734dup (p.Tyr1245Ter)
c.3671dup (p.Tyr1224Ter)
 ClinVar
11g.47332135A=CA1969333385MYBPC3c.3751T= (p.Tyr1251=)
c.3733T= (p.Tyr1245=)
c.3670T= (p.Tyr1224=)
11g.47332135A>CCA380310899MYBPC3c.3751T>G (p.Tyr1251Asp)
c.3733T>G (p.Tyr1245Asp)
c.3670T>G (p.Tyr1224Asp)
 ClinVar dbSNP
11g.47332135A>GCA014762MYBPC3c.3751T>C (p.Tyr1251His)
c.3733T>C (p.Tyr1245His)
c.3670T>C (p.Tyr1224His)
 ClinVar dbSNP gnomAD v4
11g.47332135A>TCA380310894MYBPC3c.3751T>A (p.Tyr1251Asn)
c.3733T>A (p.Tyr1245Asn)
c.3670T>A (p.Tyr1224Asn)
 COSMIC COSMIC
11g.47332136G>ACA474428844MYBPC3c.3750C>T (p.Ile1250=)
c.3732C>T (p.Ile1244=)
c.3669C>T (p.Ile1223=)
11g.47332136G>CCA079527MYBPC3c.3750C>G (p.Ile1250Met)
c.3732C>G (p.Ile1244Met)
c.3669C>G (p.Ile1223Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332136G=CA1969333387MYBPC3c.3750C= (p.Ile1250=)
c.3732C= (p.Ile1244=)
c.3669C= (p.Ile1223=)
11g.47332136G>TCA474428845MYBPC3c.3750C>A (p.Ile1250=)
c.3732C>A (p.Ile1244=)
c.3669C>A (p.Ile1223=)
11g.47332137A>CCA380310909MYBPC3c.3749T>G (p.Ile1250Ser)
c.3731T>G (p.Ile1244Ser)
c.3668T>G (p.Ile1223Ser)
11g.47332137A>GCA380310914MYBPC3c.3749T>C (p.Ile1250Thr)
c.3731T>C (p.Ile1244Thr)
c.3668T>C (p.Ile1223Thr)
 gnomAD v4
11g.47332137A>TCA380310917MYBPC3c.3749T>A (p.Ile1250Asn)
c.3731T>A (p.Ile1244Asn)
c.3668T>A (p.Ile1223Asn)
11g.47332138delCA2739270411MYBPC3c.3748del (p.Ile1250SerfsTer?)
c.3730del (p.Ile1244SerfsTer?)
c.3667del (p.Ile1223SerfsTer?)
 ClinVar
11g.47332138T>ACA380310923MYBPC3c.3748A>T (p.Ile1250Phe)
c.3730A>T (p.Ile1244Phe)
c.3667A>T (p.Ile1223Phe)
11g.47332138T>CCA380310926MYBPC3c.3748A>G (p.Ile1250Val)
c.3730A>G (p.Ile1244Val)
c.3667A>G (p.Ile1223Val)
 dbSNP
11g.47332138T>GCA380310929MYBPC3c.3748A>C (p.Ile1250Leu)
c.3730A>C (p.Ile1244Leu)
c.3667A>C (p.Ile1223Leu)
11g.47332138T=CA1969333389MYBPC3c.3748A= (p.Ile1250=)
c.3730A= (p.Ile1244=)
c.3667A= (p.Ile1223=)
11g.47332138_47332139insCCCA2697548535MYBPC3c.3747_3748insGG (p.Ile1250GlyfsTer?)
c.3729_3730insGG (p.Ile1244GlyfsTer?)
c.3666_3667insGG (p.Ile1223GlyfsTer?)
 ClinVar
11g.47332139delCA2695213895MYBPC3c.3747del (p.Ile1250SerfsTer?)
c.3729del (p.Ile1244SerfsTer?)
c.3666del (p.Ile1223SerfsTer?)
11g.47332139G>ACA079526MYBPC3c.3747C>T (p.Gly1249=)
c.3729C>T (p.Gly1243=)
c.3666C>T (p.Gly1222=)
 dbSNP ExAC gnomAD v2
11g.47332139G>CCA054837MYBPC3c.3747C>G (p.Gly1249=)
c.3729C>G (p.Gly1243=)
c.3666C>G (p.Gly1222=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332139G=CA1969333392MYBPC3c.3747C= (p.Gly1249=)
c.3729C= (p.Gly1243=)
c.3666C= (p.Gly1222=)
11g.47332139G>TCA474428846MYBPC3c.3747C>A (p.Gly1249=)
c.3729C>A (p.Gly1243=)
c.3666C>A (p.Gly1222=)
11g.47332139dupCA2695213896MYBPC3c.3747dup (p.Ile1250HisfsTer16)
c.3729dup (p.Ile1244HisfsTer16)
c.3666dup (p.Ile1223HisfsTer16)
11g.47332140C>ACA014754MYBPC3c.3746G>T (p.Gly1249Val)
c.3728G>T (p.Gly1243Val)
c.3665G>T (p.Gly1222Val)
 ClinVar dbSNP gnomAD v4
11g.47332140C=CA1969333395MYBPC3c.3746G= (p.Gly1249=)
c.3728G= (p.Gly1243=)
c.3665G= (p.Gly1222=)
11g.47332140C>GCA380310941MYBPC3c.3746G>C (p.Gly1249Ala)
c.3728G>C (p.Gly1243Ala)
c.3665G>C (p.Gly1222Ala)
11g.47332140C>TCA380310946MYBPC3c.3746G>A (p.Gly1249Asp)
c.3728G>A (p.Gly1243Asp)
c.3665G>A (p.Gly1222Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332143_47332144insGCAGACATAGATGCCCCCCA2739291458MYBPC3c.3746_3747insGCATCTATGTCTGCGGGG (p.Gly1249_Ile1250insHisLeuCysLeuArgGly)
c.3728_3729insGCATCTATGTCTGCGGGG (p.Gly1243_Ile1244insHisLeuCysLeuArgGly)
c.3665_3666insGCATCTATGTCTGCGGGG (p.Gly1222_Ile1223insHisLeuCysLeuArgGly)
11g.47332144delCA2573146356MYBPC3c.3746del (p.Gly1249AlafsTer?)
c.3728del (p.Gly1243AlafsTer?)
c.3665del (p.Gly1222AlafsTer?)
 ClinVar dbSNP
11g.47332141C>ACA380310950MYBPC3c.3745G>T (p.Gly1249Cys)
c.3727G>T (p.Gly1243Cys)
c.3664G>T (p.Gly1222Cys)
11g.47332141C>GCA380310954MYBPC3c.3745G>C (p.Gly1249Arg)
c.3727G>C (p.Gly1243Arg)
c.3664G>C (p.Gly1222Arg)
11g.47332141C>TCA380310958MYBPC3c.3745G>A (p.Gly1249Ser)
c.3727G>A (p.Gly1243Ser)
c.3664G>A (p.Gly1222Ser)
 gnomAD v4
11g.47332142C>ACA474428849MYBPC3c.3744G>T (p.Gly1248=)
c.3726G>T (p.Gly1242=)
c.3663G>T (p.Gly1221=)
11g.47332142C=CA1969333396MYBPC3c.3744G= (p.Gly1248=)
c.3726G= (p.Gly1242=)
c.3663G= (p.Gly1221=)
11g.47332142C>GCA474428848MYBPC3c.3744G>C (p.Gly1248=)
c.3726G>C (p.Gly1242=)
c.3663G>C (p.Gly1221=)
11g.47332142C>TCA474428847MYBPC3c.3744G>A (p.Gly1248=)
c.3726G>A (p.Gly1242=)
c.3663G>A (p.Gly1221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332143C>ACA380310961MYBPC3c.3743G>T (p.Gly1248Val)
c.3725G>T (p.Gly1242Val)
c.3662G>T (p.Gly1221Val)
11g.47332143C>GCA380310960MYBPC3c.3743G>C (p.Gly1248Ala)
c.3725G>C (p.Gly1242Ala)
c.3662G>C (p.Gly1221Ala)
11g.47332143C>TCA380310959MYBPC3c.3743G>A (p.Gly1248Glu)
c.3725G>A (p.Gly1242Glu)
c.3662G>A (p.Gly1221Glu)
11g.47332144C>ACA380310963MYBPC3c.3742G>T (p.Gly1248Trp)
c.3724G>T (p.Gly1242Trp)
c.3661G>T (p.Gly1221Trp)
 COSMIC
11g.47332144C=CA1969333398MYBPC3c.3742G= (p.Gly1248=)
c.3724G= (p.Gly1242=)
c.3661G= (p.Gly1221=)
11g.47332144C>GCA380310966MYBPC3c.3742G>C (p.Gly1248Arg)
c.3724G>C (p.Gly1242Arg)
c.3661G>C (p.Gly1221Arg)
 COSMIC COSMIC
11g.47332144C>TCA014732MYBPC3c.3742G>A (p.Gly1248Arg)
c.3724G>A (p.Gly1242Arg)
c.3661G>A (p.Gly1221Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332145G>ACA014720MYBPC3c.3741C>T (p.Asp1247=)
c.3723C>T (p.Asp1241=)
c.3660C>T (p.Asp1220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332145G>CCA380310976MYBPC3c.3741C>G (p.Asp1247Glu)
c.3723C>G (p.Asp1241Glu)
c.3660C>G (p.Asp1220Glu)
11g.47332145G=CA1969333400MYBPC3c.3741C= (p.Asp1247=)
c.3723C= (p.Asp1241=)
c.3660C= (p.Asp1220=)
11g.47332145G>TCA380310979MYBPC3c.3741C>A (p.Asp1247Glu)
c.3723C>A (p.Asp1241Glu)
c.3660C>A (p.Asp1220Glu)
11g.47332146T>ACA380310989MYBPC3c.3740A>T (p.Asp1247Val)
c.3722A>T (p.Asp1241Val)
c.3659A>T (p.Asp1220Val)
11g.47332146T>CCA380310981MYBPC3c.3740A>G (p.Asp1247Gly)
c.3722A>G (p.Asp1241Gly)
c.3659A>G (p.Asp1220Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332146T>GCA380310986MYBPC3c.3740A>C (p.Asp1247Ala)
c.3722A>C (p.Asp1241Ala)
c.3659A>C (p.Asp1220Ala)
11g.47332146T=CA1969333403MYBPC3c.3740A= (p.Asp1247=)
c.3722A= (p.Asp1241=)
c.3659A= (p.Asp1220=)
11g.47332147C>ACA380310995MYBPC3c.3739G>T (p.Asp1247Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3658G>T (p.Asp1220Tyr)
 ClinVar
11g.47332147C=CA1969333405MYBPC3c.3739G= (p.Asp1247=)
c.3721G= (p.Asp1241=)
c.3658G= (p.Asp1220=)
11g.47332147C>GCA380310999MYBPC3c.3739G>C (p.Asp1247His)
c.3721G>C (p.Asp1241His)
c.3658G>C (p.Asp1220His)
 gnomAD v4
11g.47332147C>TCA054809MYBPC3c.3739G>A (p.Asp1247Asn)
c.3721G>A (p.Asp1241Asn)
c.3658G>A (p.Asp1220Asn)
 ClinVar dbSNP gnomAD v4
11g.47332148A>CCA380311016MYBPC3c.3738T>G (p.Phe1246Leu)
c.3720T>G (p.Phe1240Leu)
c.3657T>G (p.Phe1219Leu)
11g.47332148A>GCA474428850MYBPC3c.3738T>C (p.Phe1246=)
c.3720T>C (p.Phe1240=)
c.3657T>C (p.Phe1219=)
11g.47332148A>TCA380311036MYBPC3c.3738T>A (p.Phe1246Leu)
c.3720T>A (p.Phe1240Leu)
c.3657T>A (p.Phe1219Leu)
11g.47332149A=CA1969333407MYBPC3c.3737T= (p.Phe1246=)
c.3719T= (p.Phe1240=)
c.3656T= (p.Phe1219=)
11g.47332149A>CCA380311050MYBPC3c.3737T>G (p.Phe1246Cys)
c.3719T>G (p.Phe1240Cys)
c.3656T>G (p.Phe1219Cys)
11g.47332149A>GCA014703MYBPC3c.3737T>C (p.Phe1246Ser)
c.3719T>C (p.Phe1240Ser)
c.3656T>C (p.Phe1219Ser)
 ClinVar dbSNP gnomAD v4
11g.47332149A>TCA380311044MYBPC3c.3737T>A (p.Phe1246Tyr)
c.3719T>A (p.Phe1240Tyr)
c.3656T>A (p.Phe1219Tyr)
 dbSNP
11g.47332150A>CCA380311053MYBPC3c.3736T>G (p.Phe1246Val)
c.3718T>G (p.Phe1240Val)
c.3655T>G (p.Phe1219Val)
 COSMIC COSMIC
11g.47332150A>GCA380311055MYBPC3c.3736T>C (p.Phe1246Leu)
c.3718T>C (p.Phe1240Leu)
c.3655T>C (p.Phe1219Leu)
11g.47332150A>TCA380311058MYBPC3c.3736T>A (p.Phe1246Ile)
c.3718T>A (p.Phe1240Ile)
c.3655T>A (p.Phe1219Ile)
11g.47332150_47332151delinsAGCA1969333409MYBPC3c.3735_3736delinsCT (p.Pro1245=)
c.3717_3718delinsCT (p.Pro1239=)
c.3654_3655delinsCT (p.Pro1218=)
11g.47332151G>ACA474428851MYBPC3c.3735C>T (p.Pro1245=)
c.3717C>T (p.Pro1239=)
c.3654C>T (p.Pro1218=)
 ClinVar gnomAD v4
11g.47332151G>CCA474428852MYBPC3c.3735C>G (p.Pro1245=)
c.3717C>G (p.Pro1239=)
c.3654C>G (p.Pro1218=)
11g.47332151G>TCA474428853MYBPC3c.3735C>A (p.Pro1245=)
c.3717C>A (p.Pro1239=)
c.3654C>A (p.Pro1218=)
11g.47332154delCA014698MYBPC3c.3735del (p.Phe1246LeufsTer?)
c.3717del (p.Phe1240LeufsTer?)
c.3654del (p.Phe1219LeufsTer?)
 ClinVar dbSNP
11g.47332152G>ACA380311066MYBPC3c.3734C>T (p.Pro1245Leu)
c.3716C>T (p.Pro1239Leu)
c.3653C>T (p.Pro1218Leu)
 ClinVar
11g.47332152G>CCA380311067MYBPC3c.3734C>G (p.Pro1245Arg)
c.3716C>G (p.Pro1239Arg)
c.3653C>G (p.Pro1218Arg)
11g.47332152G>TCA380311069MYBPC3c.3734C>A (p.Pro1245His)
c.3716C>A (p.Pro1239His)
c.3653C>A (p.Pro1218His)
11g.47332153G>ACA380311071MYBPC3c.3733C>T (p.Pro1245Ser)
c.3715C>T (p.Pro1239Ser)
c.3652C>T (p.Pro1218Ser)
11g.47332153G>CCA380311074MYBPC3c.3733C>G (p.Pro1245Ala)
c.3715C>G (p.Pro1239Ala)
c.3652C>G (p.Pro1218Ala)
11g.47332153G=CA1969333411MYBPC3c.3733C= (p.Pro1245=)
c.3715C= (p.Pro1239=)
c.3652C= (p.Pro1218=)
11g.47332153G>TCA221681784MYBPC3c.3733C>A (p.Pro1245Thr)
c.3715C>A (p.Pro1239Thr)
c.3652C>A (p.Pro1218Thr)
 dbSNP
11g.47332154G>ACA474428854MYBPC3c.3732C>T (p.Cys1244=)
c.3714C>T (p.Cys1238=)
c.3651C>T (p.Cys1217=)
 ClinVar dbSNP
11g.47332154G>CCA380311080MYBPC3c.3732C>G (p.Cys1244Trp)
c.3714C>G (p.Cys1238Trp)
c.3651C>G (p.Cys1217Trp)
11g.47332154G=CA1969333413MYBPC3c.3732C= (p.Cys1244=)
c.3714C= (p.Cys1238=)
c.3651C= (p.Cys1217=)
11g.47332154G>TCA014689MYBPC3c.3732C>A (p.Cys1244Ter)
c.3714C>A (p.Cys1238Ter)
c.3651C>A (p.Cys1217Ter)
 ClinVar dbSNP
11g.47332155C>ACA380311088MYBPC3c.3731G>T (p.Cys1244Phe)
c.3713G>T (p.Cys1238Phe)
c.3650G>T (p.Cys1217Phe)
11g.47332155C=CA1969333417MYBPC3c.3731G= (p.Cys1244=)
c.3713G= (p.Cys1238=)
c.3650G= (p.Cys1217=)
11g.47332155C>GCA380311095MYBPC3c.3731G>C (p.Cys1244Ser)
c.3713G>C (p.Cys1238Ser)
c.3650G>C (p.Cys1217Ser)
11g.47332155C>TCA380311090MYBPC3c.3731G>A (p.Cys1244Tyr)
c.3713G>A (p.Cys1238Tyr)
c.3650G>A (p.Cys1217Tyr)
 ClinVar dbSNP gnomAD v4
11g.47332156A>CCA380311098MYBPC3c.3730T>G (p.Cys1244Gly)
c.3712T>G (p.Cys1238Gly)
c.3649T>G (p.Cys1217Gly)
11g.47332156A>GCA380311104MYBPC3c.3730T>C (p.Cys1244Arg)
c.3712T>C (p.Cys1238Arg)
c.3649T>C (p.Cys1217Arg)
11g.47332156A>TCA380311101MYBPC3c.3730T>A (p.Cys1244Ser)
c.3712T>A (p.Cys1238Ser)
c.3649T>A (p.Cys1217Ser)
11g.47332156_47332157delinsAGCA1969333418MYBPC3c.3729_3730delinsCT (p.Pro1243=)
c.3711_3712delinsCT (p.Pro1237=)
c.3648_3649delinsCT (p.Pro1216=)
11g.47332157G>ACA474428855MYBPC3c.3729C>T (p.Pro1243=)
c.3711C>T (p.Pro1237=)
c.3648C>T (p.Pro1216=)
11g.47332157G>CCA474428856MYBPC3c.3729C>G (p.Pro1243=)
c.3711C>G (p.Pro1237=)
c.3648C>G (p.Pro1216=)
11g.47332157G>TCA474428857MYBPC3c.3729C>A (p.Pro1243=)
c.3711C>A (p.Pro1237=)
c.3648C>A (p.Pro1216=)
 gnomAD v4
11g.47332159dupCA2499220957MYBPC3c.3729dup (p.Cys1244LeufsTer4)
c.3711dup (p.Cys1238LeufsTer4)
c.3648dup (p.Cys1217LeufsTer4)
 ClinVar dbSNP
11g.47332159delCA599374101MYBPC3c.3729del (p.Cys1244AlafsTer?)
c.3711del (p.Cys1238AlafsTer?)
c.3648del (p.Cys1217AlafsTer?)
 dbSNP gnomAD v2
11g.47332158G>ACA380311108MYBPC3c.3728C>T (p.Pro1243Leu)
c.3710C>T (p.Pro1237Leu)
c.3647C>T (p.Pro1216Leu)
 COSMIC COSMIC
11g.47332158G>CCA279610MYBPC3c.3728C>G (p.Pro1243Arg)
c.3710C>G (p.Pro1237Arg)
c.3647C>G (p.Pro1216Arg)
 ClinVar dbSNP
11g.47332158G=CA1969333419MYBPC3c.3728C= (p.Pro1243=)
c.3710C= (p.Pro1237=)
c.3647C= (p.Pro1216=)
11g.47332158G>TCA380311115MYBPC3c.3728C>A (p.Pro1243His)
c.3710C>A (p.Pro1237His)
c.3647C>A (p.Pro1216His)
 ClinVar
11g.47332159G>ACA380311116MYBPC3c.3727C>T (p.Pro1243Ser)
c.3709C>T (p.Pro1237Ser)
c.3646C>T (p.Pro1216Ser)
11g.47332159G>CCA380311119MYBPC3c.3727C>G (p.Pro1243Ala)
c.3709C>G (p.Pro1237Ala)
c.3646C>G (p.Pro1216Ala)
11g.47332159G>TCA380311123MYBPC3c.3727C>A (p.Pro1243Thr)
c.3709C>A (p.Pro1237Thr)
c.3646C>A (p.Pro1216Thr)
11g.47332159_47332160delinsGCCA1969333421MYBPC3c.3726_3727delinsGC (p.Lys1242=)
c.3708_3709delinsGC (p.Lys1236=)
c.3645_3646delinsGC (p.Lys1215=)
11g.47332160delCA16619331MYBPC3c.3726del (p.Lys1242AsnfsTer?)
c.3708del (p.Lys1236AsnfsTer?)
c.3645del (p.Lys1215AsnfsTer?)
 ClinVar dbSNP
11g.47332160C>ACA16606238MYBPC3c.3726G>T (p.Lys1242Asn)
c.3708G>T (p.Lys1236Asn)
c.3645G>T (p.Lys1215Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332160C=CA1969333424MYBPC3c.3726G= (p.Lys1242=)
c.3708G= (p.Lys1236=)
c.3645G= (p.Lys1215=)
11g.47332160C>GCA380311135MYBPC3c.3726G>C (p.Lys1242Asn)
c.3708G>C (p.Lys1236Asn)
c.3645G>C (p.Lys1215Asn)
11g.47332160C>TCA474428858MYBPC3c.3726G>A (p.Lys1242=)
c.3708G>A (p.Lys1236=)
c.3645G>A (p.Lys1215=)
11g.47332161T>ACA380311138MYBPC3c.3725A>T (p.Lys1242Met)
c.3707A>T (p.Lys1236Met)
c.3644A>T (p.Lys1215Met)
11g.47332161T>CCA380311139MYBPC3c.3725A>G (p.Lys1242Arg)
c.3707A>G (p.Lys1236Arg)
c.3644A>G (p.Lys1215Arg)
11g.47332161T>GCA380311140MYBPC3c.3725A>C (p.Lys1242Thr)
c.3707A>C (p.Lys1236Thr)
c.3644A>C (p.Lys1215Thr)
11g.47332162T>ACA380311144MYBPC3c.3724A>T (p.Lys1242Ter)
c.3706A>T (p.Lys1236Ter)
c.3643A>T (p.Lys1215Ter)
11g.47332162T>CCA221681792MYBPC3c.3724A>G (p.Lys1242Glu)
c.3706A>G (p.Lys1236Glu)
c.3643A>G (p.Lys1215Glu)
 ClinVar dbSNP
11g.47332162T>GCA380311142MYBPC3c.3724A>C (p.Lys1242Gln)
c.3706A>C (p.Lys1236Gln)
c.3643A>C (p.Lys1215Gln)
11g.47332162T=CA1969333426MYBPC3c.3724A= (p.Lys1242=)
c.3706A= (p.Lys1236=)
c.3643A= (p.Lys1215=)
11g.47332163T>ACA380311147MYBPC3c.3723A>T (p.Arg1241Ser)
c.3705A>T (p.Arg1235Ser)
c.3642A>T (p.Arg1214Ser)
11g.47332163T>CCA474428859MYBPC3c.3723A>G (p.Arg1241=)
c.3705A>G (p.Arg1235=)
c.3642A>G (p.Arg1214=)
 ClinVar dbSNP gnomAD v4
11g.47332163T>GCA380311150MYBPC3c.3723A>C (p.Arg1241Ser)
c.3705A>C (p.Arg1235Ser)
c.3642A>C (p.Arg1214Ser)
11g.47332163T=CA1969333427MYBPC3c.3723A= (p.Arg1241=)
c.3705A= (p.Arg1235=)
c.3642A= (p.Arg1214=)
11g.47332164C>ACA380311153MYBPC3c.3722G>T (p.Arg1241Ile)
c.3704G>T (p.Arg1235Ile)
c.3641G>T (p.Arg1214Ile)
11g.47332164C=CA1969333429MYBPC3c.3722G= (p.Arg1241=)
c.3704G= (p.Arg1235=)
c.3641G= (p.Arg1214=)
11g.47332164C>GCA380311154MYBPC3c.3722G>C (p.Arg1241Thr)
c.3704G>C (p.Arg1235Thr)
c.3641G>C (p.Arg1214Thr)
 dbSNP
11g.47332164C>TCA380311157MYBPC3c.3722G>A (p.Arg1241Lys)
c.3704G>A (p.Arg1235Lys)
c.3641G>A (p.Arg1214Lys)
11g.47332165T>ACA380311160MYBPC3c.3721A>T (p.Arg1241Ter)
c.3703A>T (p.Arg1235Ter)
c.3640A>T (p.Arg1214Ter)
11g.47332165T>CCA380311161MYBPC3c.3721A>G (p.Arg1241Gly)
c.3703A>G (p.Arg1235Gly)
c.3640A>G (p.Arg1214Gly)
11g.47332165T>GCA474428860MYBPC3c.3721A>C (p.Arg1241=)
c.3703A>C (p.Arg1235=)
c.3640A>C (p.Arg1214=)
11g.47332166A=CA1969333430MYBPC3c.3720T= (p.Ile1240=)
c.3702T= (p.Ile1234=)
c.3639T= (p.Ile1213=)
11g.47332166A>CCA380311162MYBPC3c.3720T>G (p.Ile1240Met)
c.3702T>G (p.Ile1234Met)
c.3639T>G (p.Ile1213Met)
11g.47332166A>GCA079517MYBPC3c.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
11g.47332166A>TCA474428861MYBPC3c.3720T>A (p.Ile1240=)
c.3702T>A (p.Ile1234=)
c.3639T>A (p.Ile1213=)
 dbSNP gnomAD v4
11g.47332167dupCA2580615674MYBPC3c.3720dup (p.Arg1241Ter)
c.3702dup (p.Arg1235Ter)
c.3639dup (p.Arg1214Ter)
 ClinVar
11g.47332167A=CA1969333432MYBPC3c.3719T= (p.Ile1240=)
c.3701T= (p.Ile1234=)
c.3638T= (p.Ile1213=)
11g.47332167A>CCA380311166MYBPC3c.3719T>G (p.Ile1240Ser)
c.3701T>G (p.Ile1234Ser)
c.3638T>G (p.Ile1213Ser)
11g.47332167A>GCA380311167MYBPC3c.3719T>C (p.Ile1240Thr)
c.3701T>C (p.Ile1234Thr)
c.3638T>C (p.Ile1213Thr)
11g.47332167A>TCA380311169MYBPC3c.3719T>A (p.Ile1240Asn)
c.3701T>A (p.Ile1234Asn)
c.3638T>A (p.Ile1213Asn)
 ClinVar dbSNP
11g.47332168T>ACA380311176MYBPC3c.3718A>T (p.Ile1240Phe)
c.3700A>T (p.Ile1234Phe)
c.3637A>T (p.Ile1213Phe)
11g.47332168T>CCA380311173MYBPC3c.3718A>G (p.Ile1240Val)
c.3700A>G (p.Ile1234Val)
c.3637A>G (p.Ile1213Val)
 ClinVar
11g.47332168T>GCA380311172MYBPC3c.3718A>C (p.Ile1240Leu)
c.3700A>C (p.Ile1234Leu)
c.3637A>C (p.Ile1213Leu)
11g.47332168_47332182delinsTCTCCAGAGTCAACACA1969333434MYBPC3c.3704_3718delinsTGTTGACTCTGGAGA (p.Val1235=)
c.3686_3700delinsTGTTGACTCTGGAGA (p.Val1229=)
c.3623_3637delinsTGTTGACTCTGGAGA (p.Val1208=)
11g.47332169C>ACA380311177MYBPC3c.3717G>T (p.Glu1239Asp)
c.3699G>T (p.Glu1233Asp)
c.3636G>T (p.Glu1212Asp)
 gnomAD v4
11g.47332169C>GCA380311178MYBPC3c.3717G>C (p.Glu1239Asp)
c.3699G>C (p.Glu1233Asp)
c.3636G>C (p.Glu1212Asp)
11g.47332169C>TCA474428862MYBPC3c.3717G>A (p.Glu1239=)
c.3699G>A (p.Glu1233=)
c.3636G>A (p.Glu1212=)
11g.47332170_47332172delCA2695213899MYBPC3c.3715_3717del (p.Glu1239del)
c.3697_3699del (p.Glu1233del)
c.3634_3636del (p.Glu1212del)
11g.47332173_47332186delCA937665251MYBPC3c.3704_3717del (p.Val1235AspfsTer2)
c.3686_3699del (p.Val1229AspfsTer2)
c.3623_3636del (p.Val1208AspfsTer2)
 dbSNP gnomAD v3 gnomAD v4
11g.47332170T>ACA380311183MYBPC3c.3716A>T (p.Glu1239Val)
c.3698A>T (p.Glu1233Val)
c.3635A>T (p.Glu1212Val)
11g.47332170T>CCA380311184MYBPC3c.3716A>G (p.Glu1239Gly)
c.3698A>G (p.Glu1233Gly)
c.3635A>G (p.Glu1212Gly)
 ClinVar dbSNP gnomAD v4
11g.47332170T>GCA380311186MYBPC3c.3716A>C (p.Glu1239Ala)
c.3698A>C (p.Glu1233Ala)
c.3635A>C (p.Glu1212Ala)
11g.47332170T=CA1969333435MYBPC3c.3716A= (p.Glu1239=)
c.3698A= (p.Glu1233=)
c.3635A= (p.Glu1212=)
11g.47332171C>ACA380311191MYBPC3c.3715G>T (p.Glu1239Ter)
c.3697G>T (p.Glu1233Ter)
c.3634G>T (p.Glu1212Ter)
11g.47332171C=CA1969333437MYBPC3c.3715G= (p.Glu1239=)
c.3697G= (p.Glu1233=)
c.3634G= (p.Glu1212=)
11g.47332171C>GCA380311189MYBPC3c.3715G>C (p.Glu1239Gln)
c.3697G>C (p.Glu1233Gln)
c.3634G>C (p.Glu1212Gln)
11g.47332171C>TCA079515MYBPC3c.3715G>A (p.Glu1239Lys)
c.3697G>A (p.Glu1233Lys)
c.3634G>A (p.Glu1212Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.47332172C>ACA474428863MYBPC3c.3714G>T (p.Leu1238=)
c.3696G>T (p.Leu1232=)
c.3633G>T (p.Leu1211=)
11g.47332172C>GCA474428864MYBPC3c.3714G>C (p.Leu1238=)
c.3696G>C (p.Leu1232=)
c.3633G>C (p.Leu1211=)
11g.47332172C>TCA474428865MYBPC3c.3714G>A (p.Leu1238=)
c.3696G>A (p.Leu1232=)
c.3633G>A (p.Leu1211=)
11g.47332172_47332173delCA2580084175MYBPC3c.3713_3714del (p.Leu1238ArgfsTer3)
c.3695_3696del (p.Leu1232ArgfsTer3)
c.3632_3633del (p.Leu1211ArgfsTer3)
 ClinVar
11g.47332172_47332174delinsCAGCA1969333439MYBPC3c.3712_3714delinsCTG (p.Leu1238=)
c.3694_3696delinsCTG (p.Leu1232=)
c.3631_3633delinsCTG (p.Leu1211=)
11g.47332173A=CA1969333443MYBPC3c.3713T= (p.Leu1238=)
c.3695T= (p.Leu1232=)
c.3632T= (p.Leu1211=)
11g.47332173A>CCA380311202MYBPC3c.3713T>G (p.Leu1238Arg)
c.3695T>G (p.Leu1232Arg)
c.3632T>G (p.Leu1211Arg)
11g.47332173A>GCA014684MYBPC3c.3713T>C (p.Leu1238Pro)
c.3695T>C (p.Leu1232Pro)
c.3632T>C (p.Leu1211Pro)
 ClinVar dbSNP
11g.47332173A>TCA380311206MYBPC3c.3713T>A (p.Leu1238Gln)
c.3695T>A (p.Leu1232Gln)
c.3632T>A (p.Leu1211Gln)
11g.47332175_47332176delCA279582MYBPC3c.3712_3713del (p.Leu1238GlyfsTer3)
c.3694_3695del (p.Leu1232GlyfsTer3)
c.3631_3632del (p.Leu1211GlyfsTer3)
 ClinVar dbSNP
11g.47332174G>ACA221681802MYBPC3c.3712C>T (p.Leu1238=)
c.3694C>T (p.Leu1232=)
c.3631C>T (p.Leu1211=)
 dbSNP gnomAD v3 gnomAD v4
11g.47332174G>CCA380311213MYBPC3c.3712C>G (p.Leu1238Val)
c.3694C>G (p.Leu1232Val)
c.3631C>G (p.Leu1211Val)
11g.47332174G=CA1969333444MYBPC3c.3712C= (p.Leu1238=)
c.3694C= (p.Leu1232=)
c.3631C= (p.Leu1211=)
11g.47332174G>TCA380311215MYBPC3c.3712C>A (p.Leu1238Met)
c.3694C>A (p.Leu1232Met)
c.3631C>A (p.Leu1211Met)
11g.47332175A=CA1969333445MYBPC3c.3711T= (p.Thr1237=)
c.3693T= (p.Thr1231=)
c.3630T= (p.Thr1210=)
11g.47332175A>CCA474428866MYBPC3c.3711T>G (p.Thr1237=)
c.3693T>G (p.Thr1231=)
c.3630T>G (p.Thr1210=)
11g.47332175A>GCA474428868MYBPC3c.3711T>C (p.Thr1237=)
c.3693T>C (p.Thr1231=)
c.3630T>C (p.Thr1210=)
 dbSNP
11g.47332175A>TCA474428867MYBPC3c.3711T>A (p.Thr1237=)
c.3693T>A (p.Thr1231=)
c.3630T>A (p.Thr1210=)
11g.47332176G>ACA380311217MYBPC3c.3710C>T (p.Thr1237Ile)
c.3692C>T (p.Thr1231Ile)
c.3629C>T (p.Thr1210Ile)
11g.47332176G>CCA380311221MYBPC3c.3710C>G (p.Thr1237Ser)
c.3692C>G (p.Thr1231Ser)
c.3629C>G (p.Thr1210Ser)
11g.47332176G>TCA380311220MYBPC3c.3710C>A (p.Thr1237Asn)
c.3692C>A (p.Thr1231Asn)
c.3629C>A (p.Thr1210Asn)
11g.47332177T>ACA380311223MYBPC3c.3709A>T (p.Thr1237Ser)
c.3691A>T (p.Thr1231Ser)
c.3628A>T (p.Thr1210Ser)
11g.47332177T>CCA380311226MYBPC3c.3709A>G (p.Thr1237Ala)
c.3691A>G (p.Thr1231Ala)
c.3628A>G (p.Thr1210Ala)
11g.47332177T>GCA014678MYBPC3c.3709A>C (p.Thr1237Pro)
c.3691A>C (p.Thr1231Pro)
c.3628A>C (p.Thr1210Pro)
 ClinVar dbSNP
11g.47332177T=CA1969333446MYBPC3c.3709A= (p.Thr1237=)
c.3691A= (p.Thr1231=)
c.3628A= (p.Thr1210=)
11g.47332178C>ACA380311232MYBPC3c.3708G>T (p.Leu1236Phe)
c.3690G>T (p.Leu1230Phe)
c.3627G>T (p.Leu1209Phe)
11g.47332178C=CA1969333450MYBPC3c.3708G= (p.Leu1236=)
c.3690G= (p.Leu1230=)
c.3627G= (p.Leu1209=)
11g.47332178C>GCA380311237MYBPC3c.3708G>C (p.Leu1236Phe)
c.3690G>C (p.Leu1230Phe)
c.3627G>C (p.Leu1209Phe)
11g.47332178C>TCA079512MYBPC3c.3708G>A (p.Leu1236=)
c.3690G>A (p.Leu1230=)
c.3627G>A (p.Leu1209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332179A=CA1969333452MYBPC3c.3707T= (p.Leu1236=)
c.3689T= (p.Leu1230=)
c.3626T= (p.Leu1209=)
11g.47332179A>CCA380311245MYBPC3c.3707T>G (p.Leu1236Trp)
c.3689T>G (p.Leu1230Trp)
c.3626T>G (p.Leu1209Trp)
11g.47332179A>GCA380311246MYBPC3c.3707T>C (p.Leu1236Ser)
c.3689T>C (p.Leu1230Ser)
c.3626T>C (p.Leu1209Ser)
 dbSNP
11g.47332179A>TCA380311249MYBPC3c.3707T>A (p.Leu1236Ter)
c.3689T>A (p.Leu1230Ter)
c.3626T>A (p.Leu1209Ter)
11g.47332180A>CCA380311254MYBPC3c.3706T>G (p.Leu1236Val)
c.3688T>G (p.Leu1230Val)
c.3625T>G (p.Leu1209Val)
11g.47332180A>GCA474428869MYBPC3c.3706T>C (p.Leu1236=)
c.3688T>C (p.Leu1230=)
c.3625T>C (p.Leu1209=)
11g.47332180A>TCA380311256MYBPC3c.3706T>A (p.Leu1236Met)
c.3688T>A (p.Leu1230Met)
c.3625T>A (p.Leu1209Met)
11g.47332181C>ACA474428870MYBPC3c.3705G>T (p.Val1235=)
c.3687G>T (p.Val1229=)
c.3624G>T (p.Val1208=)
11g.47332181C=CA1969333453MYBPC3c.3705G= (p.Val1235=)
c.3687G= (p.Val1229=)
c.3624G= (p.Val1208=)
11g.47332181C>GCA474428871MYBPC3c.3705G>C (p.Val1235=)
c.3687G>C (p.Val1229=)
c.3624G>C (p.Val1208=)
11g.47332181C>TCA014668MYBPC3c.3705G>A (p.Val1235=)
c.3687G>A (p.Val1229=)
c.3624G>A (p.Val1208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332182A=CA1969333455MYBPC3c.3704T= (p.Val1235=)
c.3686T= (p.Val1229=)
c.3623T= (p.Val1208=)
11g.47332182A>CCA380311265MYBPC3c.3704T>G (p.Val1235Gly)
c.3686T>G (p.Val1229Gly)
c.3623T>G (p.Val1208Gly)
11g.47332182A>GCA380311262MYBPC3c.3704T>C (p.Val1235Ala)
c.3686T>C (p.Val1229Ala)
c.3623T>C (p.Val1208Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332182A>TCA380311272MYBPC3c.3704T>A (p.Val1235Glu)
c.3686T>A (p.Val1229Glu)
c.3623T>A (p.Val1208Glu)
11g.47332183C>ACA380311276MYBPC3c.3703G>T (p.Val1235Leu)
c.3685G>T (p.Val1229Leu)
c.3622G>T (p.Val1208Leu)
 ClinVar dbSNP
11g.47332183C=CA1969333457MYBPC3c.3703G= (p.Val1235=)
c.3685G= (p.Val1229=)
c.3622G= (p.Val1208=)
11g.47332183C>GCA380311280MYBPC3c.3703G>C (p.Val1235Leu)
c.3685G>C (p.Val1229Leu)
c.3622G>C (p.Val1208Leu)
11g.47332183C>TCA380311283MYBPC3c.3703G>A (p.Val1235Met)
c.3685G>A (p.Val1229Met)
c.3622G>A (p.Val1208Met)
11g.47332184_47332185delCA2573146357MYBPC3c.3702_3703del (p.Leu1236AspfsTer5)
c.3684_3685del (p.Leu1230AspfsTer5)
c.3621_3622del (p.Leu1209AspfsTer5)
 ClinVar dbSNP
11g.47332184T>ACA474428874MYBPC3c.3702A>T (p.Gly1234=)
c.3684A>T (p.Gly1228=)
c.3621A>T (p.Gly1207=)
11g.47332184T>CCA474428872MYBPC3c.3702A>G (p.Gly1234=)
c.3684A>G (p.Gly1228=)
c.3621A>G (p.Gly1207=)
 ClinVar gnomAD v4
11g.47332184T>GCA474428873MYBPC3c.3702A>C (p.Gly1234=)
c.3684A>C (p.Gly1228=)
c.3621A>C (p.Gly1207=)
11g.47332185C>ACA380311286MYBPC3c.3701G>T (p.Gly1234Val)
c.3683G>T (p.Gly1228Val)
c.3620G>T (p.Gly1207Val)
 ClinVar dbSNP
11g.47332185C=CA1969333458MYBPC3c.3701G= (p.Gly1234=)
c.3683G= (p.Gly1228=)
c.3620G= (p.Gly1207=)
11g.47332185C>GCA380311287MYBPC3c.3701G>C (p.Gly1234Ala)
c.3683G>C (p.Gly1228Ala)
c.3620G>C (p.Gly1207Ala)
11g.47332185C>TCA380311291MYBPC3c.3701G>A (p.Gly1234Glu)
c.3683G>A (p.Gly1228Glu)
c.3620G>A (p.Gly1207Glu)
 ClinVar dbSNP
11g.47332186C>ACA380311302MYBPC3c.3700G>T (p.Gly1234Ter)
c.3682G>T (p.Gly1228Ter)
c.3619G>T (p.Gly1207Ter)
11g.47332186C=CA1969333461MYBPC3c.3700G= (p.Gly1234=)
c.3682G= (p.Gly1228=)
c.3619G= (p.Gly1207=)
11g.47332186C>GCA380311297MYBPC3c.3700G>C (p.Gly1234Arg)
c.3682G>C (p.Gly1228Arg)
c.3619G>C (p.Gly1207Arg)
11g.47332186C>TCA380311293MYBPC3c.3700G>A (p.Gly1234Arg)
c.3682G>A (p.Gly1228Arg)
c.3619G>A (p.Gly1207Arg)
 ClinVar dbSNP gnomAD v4
11g.47332186_47332187delinsAGCA2739270412MYBPC3c.3699_3700delinsCT (p.Gln1233HisfsTer2)
c.3681_3682delinsCT (p.Gln1227HisfsTer2)
c.3618_3619delinsCT (p.Gln1206HisfsTer2)
 ClinVar
11g.47332187C>ACA380311305MYBPC3c.3699G>T (p.Gln1233His)
c.3681G>T (p.Gln1227His)
c.3618G>T (p.Gln1206His)
11g.47332187C=CA1969333463MYBPC3c.3699G= (p.Gln1233=)
c.3681G= (p.Gln1227=)
c.3618G= (p.Gln1206=)
11g.47332187C>GCA380311306MYBPC3c.3699G>C (p.Gln1233His)
c.3681G>C (p.Gln1227His)
c.3618G>C (p.Gln1206His)
 ClinVar
11g.47332187C>TCA014658MYBPC3c.3699G>A (p.Gln1233=)
c.3681G>A (p.Gln1227=)
c.3618G>A (p.Gln1206=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332188T>ACA380311309MYBPC3c.3698A>T (p.Gln1233Leu)
c.3680A>T (p.Gln1227Leu)
c.3617A>T (p.Gln1206Leu)
11g.47332188T>CCA380311310MYBPC3c.3698A>G (p.Gln1233Arg)
c.3680A>G (p.Gln1227Arg)
c.3617A>G (p.Gln1206Arg)
11g.47332188T>GCA380311312MYBPC3c.3698A>C (p.Gln1233Pro)
c.3680A>C (p.Gln1227Pro)
c.3617A>C (p.Gln1206Pro)
11g.47332189G>ACA014648MYBPC3c.3697C>T (p.Gln1233Ter)
c.3679C>T (p.Gln1227Ter)
c.3616C>T (p.Gln1206Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332189G>CCA380311316MYBPC3c.3697C>G (p.Gln1233Glu)
c.3679C>G (p.Gln1227Glu)
c.3616C>G (p.Gln1206Glu)
 gnomAD v4
11g.47332189G=CA1969333466MYBPC3c.3697C= (p.Gln1233=)
c.3679C= (p.Gln1227=)
c.3616C= (p.Gln1206=)
11g.47332189G>TCA380311321MYBPC3c.3697C>A (p.Gln1233Lys)
c.3679C>A (p.Gln1227Lys)
c.3616C>A (p.Gln1206Lys)
11g.47332190C>ACA380311328MYBPC3c.3696G>T (p.Lys1232Asn)
c.3678G>T (p.Lys1226Asn)
c.3615G>T (p.Lys1205Asn)
 gnomAD v4
11g.47332190C=CA1969333468MYBPC3c.3696G= (p.Lys1232=)
c.3678G= (p.Lys1226=)
c.3615G= (p.Lys1205=)
11g.47332190C>GCA380311331MYBPC3c.3696G>C (p.Lys1232Asn)
c.3678G>C (p.Lys1226Asn)
c.3615G>C (p.Lys1205Asn)
11g.47332190C>TCA054739MYBPC3c.3696G>A (p.Lys1232=)
c.3678G>A (p.Lys1226=)
c.3615G>A (p.Lys1205=)
 ClinVar dbSNP gnomAD v4
11g.47332191T>ACA380311335MYBPC3c.3695A>T (p.Lys1232Met)
c.3677A>T (p.Lys1226Met)
c.3614A>T (p.Lys1205Met)
11g.47332191T>CCA380311338MYBPC3c.3695A>G (p.Lys1232Arg)
c.3677A>G (p.Lys1226Arg)
c.3614A>G (p.Lys1205Arg)
11g.47332191T>GCA380311351MYBPC3c.3695A>C (p.Lys1232Thr)
c.3677A>C (p.Lys1226Thr)
c.3614A>C (p.Lys1205Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332191T=CA1969333470MYBPC3c.3695A= (p.Lys1232=)
c.3677A= (p.Lys1226=)
c.3614A= (p.Lys1205=)
11g.47332192T>ACA014642MYBPC3c.3694A>T (p.Lys1232Ter)
c.3676A>T (p.Lys1226Ter)
c.3613A>T (p.Lys1205Ter)
 ClinVar dbSNP
11g.47332192T>CCA380311360MYBPC3c.3694A>G (p.Lys1232Glu)
c.3676A>G (p.Lys1226Glu)
c.3613A>G (p.Lys1205Glu)
11g.47332192T>GCA380311365MYBPC3c.3694A>C (p.Lys1232Gln)
c.3676A>C (p.Lys1226Gln)
c.3613A>C (p.Lys1205Gln)
 gnomAD v4
11g.47332192T=CA1969333471MYBPC3c.3694A= (p.Lys1232=)
c.3676A= (p.Lys1226=)
c.3613A= (p.Lys1205=)
11g.47332193G>ACA474428875MYBPC3c.3693C>T (p.Ser1231=)
c.3675C>T (p.Ser1225=)
c.3612C>T (p.Ser1204=)
11g.47332193G>CCA380311369MYBPC3c.3693C>G (p.Ser1231Arg)
c.3675C>G (p.Ser1225Arg)
c.3612C>G (p.Ser1204Arg)
11g.47332193G>TCA380311374MYBPC3c.3693C>A (p.Ser1231Arg)
c.3675C>A (p.Ser1225Arg)
c.3612C>A (p.Ser1204Arg)
11g.47332194C>ACA380311379MYBPC3c.3692G>T (p.Ser1231Ile)
c.3674G>T (p.Ser1225Ile)
c.3611G>T (p.Ser1204Ile)
11g.47332194C=CA1969333474MYBPC3c.3692G= (p.Ser1231=)
c.3674G= (p.Ser1225=)
c.3611G= (p.Ser1204=)
11g.47332194C>GCA380311382MYBPC3c.3692G>C (p.Ser1231Thr)
c.3674G>C (p.Ser1225Thr)
c.3611G>C (p.Ser1204Thr)
 dbSNP
11g.47332194C>TCA380311385MYBPC3c.3692G>A (p.Ser1231Asn)
c.3674G>A (p.Ser1225Asn)
c.3611G>A (p.Ser1204Asn)
 COSMIC COSMIC
11g.47332194_47332196delinsCTGCA1969333475MYBPC3c.3690_3692delinsCAG (p.Phe1230=)
c.3672_3674delinsCAG (p.Phe1224=)
c.3609_3611delinsCAG (p.Phe1203=)
11g.47332195T>ACA380311400MYBPC3c.3691A>T (p.Ser1231Cys)
c.3673A>T (p.Ser1225Cys)
c.3610A>T (p.Ser1204Cys)
 dbSNP
11g.47332195T>CCA380311390MYBPC3c.3691A>G (p.Ser1231Gly)
c.3673A>G (p.Ser1225Gly)
c.3610A>G (p.Ser1204Gly)
11g.47332195T>GCA380311396MYBPC3c.3691A>C (p.Ser1231Arg)
c.3673A>C (p.Ser1225Arg)
c.3610A>C (p.Ser1204Arg)
11g.47332195T=CA1969333477MYBPC3c.3691A= (p.Ser1231=)
c.3673A= (p.Ser1225=)
c.3610A= (p.Ser1204=)
11g.47332195_47332196delCA014638MYBPC3c.3690_3691del (p.Phe1230LeufsTer11)
c.3672_3673del (p.Phe1224LeufsTer11)
c.3609_3610del (p.Phe1203LeufsTer11)
 ClinVar dbSNP gnomAD v4
11g.47332195_47332198dupCA2499220958MYBPC3c.3688_3691dup (p.Ser1231IlefsTer12)
c.3670_3673dup (p.Ser1225IlefsTer12)
c.3607_3610dup (p.Ser1204IlefsTer12)
 ClinVar dbSNP
11g.47332196G>ACA474428876MYBPC3c.3690C>T (p.Phe1230=)
c.3672C>T (p.Phe1224=)
c.3609C>T (p.Phe1203=)
11g.47332196G>CCA380311409MYBPC3c.3690C>G (p.Phe1230Leu)
c.3672C>G (p.Phe1224Leu)
c.3609C>G (p.Phe1203Leu)
11g.47332196G>TCA380311405MYBPC3c.3690C>A (p.Phe1230Leu)
c.3672C>A (p.Phe1224Leu)
c.3609C>A (p.Phe1203Leu)
11g.47332197A>CCA380311416MYBPC3c.3689T>G (p.Phe1230Cys)
c.3671T>G (p.Phe1224Cys)
c.3608T>G (p.Phe1203Cys)
11g.47332197A>GCA380311419MYBPC3c.3689T>C (p.Phe1230Ser)
c.3671T>C (p.Phe1224Ser)
c.3608T>C (p.Phe1203Ser)
11g.47332197A>TCA380311423MYBPC3c.3689T>A (p.Phe1230Tyr)
c.3671T>A (p.Phe1224Tyr)
c.3608T>A (p.Phe1203Tyr)
11g.47332198dupCA2739291459MYBPC3c.3689dup (p.Ser1231GlnfsTer11)
c.3671dup (p.Ser1225GlnfsTer11)
c.3608dup (p.Ser1204GlnfsTer11)
11g.47332198delCA2697548538MYBPC3c.3689del (p.Phe1230SerfsTer7)
c.3671del (p.Phe1224SerfsTer7)
c.3608del (p.Phe1203SerfsTer7)
 ClinVar
11g.47332198A=CA1969333479MYBPC3c.3688T= (p.Phe1230=)
c.3670T= (p.Phe1224=)
c.3607T= (p.Phe1203=)
11g.47332198A>CCA380311427MYBPC3c.3688T>G (p.Phe1230Val)
c.3670T>G (p.Phe1224Val)
c.3607T>G (p.Phe1203Val)
11g.47332198A>GCA380311430MYBPC3c.3688T>C (p.Phe1230Leu)
c.3670T>C (p.Phe1224Leu)
c.3607T>C (p.Phe1203Leu)
 ClinVar dbSNP
11g.47332198A>TCA380311434MYBPC3c.3688T>A (p.Phe1230Ile)
c.3670T>A (p.Phe1224Ile)
c.3607T>A (p.Phe1203Ile)
11g.47332199C>ACA380311438MYBPC3c.3687G>T (p.Met1229Ile)
c.3669G>T (p.Met1223Ile)
c.3606G>T (p.Met1202Ile)
11g.47332199C>GCA380311442MYBPC3c.3687G>C (p.Met1229Ile)
c.3669G>C (p.Met1223Ile)
c.3606G>C (p.Met1202Ile)
11g.47332199C>TCA380311445MYBPC3c.3687G>A (p.Met1229Ile)
c.3669G>A (p.Met1223Ile)
c.3606G>A (p.Met1202Ile)
11g.47332200A=CA1969333481MYBPC3c.3686T= (p.Met1229=)
c.3668T= (p.Met1223=)
c.3605T= (p.Met1202=)
11g.47332200A>CCA380311448MYBPC3c.3686T>G (p.Met1229Arg)
c.3668T>G (p.Met1223Arg)
c.3605T>G (p.Met1202Arg)
11g.47332200A>GCA380311452MYBPC3c.3686T>C (p.Met1229Thr)
c.3668T>C (p.Met1223Thr)
c.3605T>C (p.Met1202Thr)
 ClinVar dbSNP
11g.47332200A>TCA380311456MYBPC3c.3686T>A (p.Met1229Lys)
c.3668T>A (p.Met1223Lys)
c.3605T>A (p.Met1202Lys)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched