Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332259_47335041delCA2580084187MYBPC3c.2905+1_3628-1del
c.2887+1_3610-1del
c.2824+1_3547-1del
 ClinVar
11g.47332677_47333963delCA2573051316MYBPC3c.2956_3519del
c.2938_3501del
c.2875_3438del
11g.47332675_47335092delCA2573051317MYBPC3c.2855_3518del
c.2837_3500del
c.2774_3437del
11g.47333144_47333158dupCA677014628MYBPC3c.3330+36_3330+50dup (n.3330+36_3330+50dup)
c.3312+36_3312+50dup (n.3312+36_3312+50dup)
c.3249+36_3249+50dup (n.3249+36_3249+50dup)
 dbSNP gnomAD v3 gnomAD v4
11g.47333146G>ACA2613393072MYBPC3c.3330+48C>T (n.3330+48C>T)
c.3312+48C>T (n.3312+48C>T)
c.3249+48C>T (n.3249+48C>T)
 gnomAD v4
11g.47333146G=CA1969334994MYBPC3c.3330+48C= (n.3330+48C=)
c.3312+48C= (n.3312+48C=)
c.3249+48C= (n.3249+48C=)
11g.47333146G>TCA599374326MYBPC3c.3330+48C>A (n.3330+48C>A)
c.3312+48C>A (n.3312+48C>A)
c.3249+48C>A (n.3249+48C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47333147C>ACA2613393075MYBPC3c.3330+47G>T (n.3330+47G>T)
c.3312+47G>T (n.3312+47G>T)
c.3249+47G>T (n.3249+47G>T)
 gnomAD v4
11g.47333147C>TCA2613393076MYBPC3c.3330+47G>A (n.3330+47G>A)
c.3312+47G>A (n.3312+47G>A)
c.3249+47G>A (n.3249+47G>A)
 gnomAD v4
11g.47333148C>ACA2613393078MYBPC3c.3330+46G>T (n.3330+46G>T)
c.3312+46G>T (n.3312+46G>T)
c.3249+46G>T (n.3249+46G>T)
 dbSNP gnomAD v4
11g.47333148C=CA1969334996MYBPC3c.3330+46G= (n.3330+46G=)
c.3312+46G= (n.3312+46G=)
c.3249+46G= (n.3249+46G=)
11g.47333148C>TCA079308MYBPC3c.3330+46G>A (n.3330+46G>A)
c.3312+46G>A (n.3312+46G>A)
c.3249+46G>A (n.3249+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333149G>ACA599374327MYBPC3c.3330+45C>T (n.3330+45C>T)
c.3312+45C>T (n.3312+45C>T)
c.3249+45C>T (n.3249+45C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47333149G=CA1969334999MYBPC3c.3330+45C= (n.3330+45C=)
c.3312+45C= (n.3312+45C=)
c.3249+45C= (n.3249+45C=)
11g.47333149G>TCA079306MYBPC3c.3330+45C>A (n.3330+45C>A)
c.3312+45C>A (n.3312+45C>A)
c.3249+45C>A (n.3249+45C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333151delCA2613393080MYBPC3c.3330+45del (n.3330+45del)
c.3312+45del (n.3312+45del)
c.3249+45del (n.3249+45del)
 gnomAD v4
11g.47333150G>ACA2613393083MYBPC3c.3330+44C>T (n.3330+44C>T)
c.3312+44C>T (n.3312+44C>T)
c.3249+44C>T (n.3249+44C>T)
 gnomAD v4
11g.47333150G>TCA2613393084MYBPC3c.3330+44C>A (n.3330+44C>A)
c.3312+44C>A (n.3312+44C>A)
c.3249+44C>A (n.3249+44C>A)
 gnomAD v4
11g.47333151G>ACA2613393086MYBPC3c.3330+43C>T (n.3330+43C>T)
c.3312+43C>T (n.3312+43C>T)
c.3249+43C>T (n.3249+43C>T)
 gnomAD v4
11g.47333151G=CA1969335002MYBPC3c.3330+43C= (n.3330+43C=)
c.3312+43C= (n.3312+43C=)
c.3249+43C= (n.3249+43C=)
11g.47333151G>TCA1969335003MYBPC3c.3330+43C>A (n.3330+43C>A)
c.3312+43C>A (n.3312+43C>A)
c.3249+43C>A (n.3249+43C>A)
 dbSNP gnomAD v4
11g.47333152C>ACA2613393089MYBPC3c.3330+42G>T (n.3330+42G>T)
c.3312+42G>T (n.3312+42G>T)
c.3249+42G>T (n.3249+42G>T)
 gnomAD v4
11g.47333153C>ACA221682400MYBPC3c.3330+41G>T (n.3330+41G>T)
c.3312+41G>T (n.3312+41G>T)
c.3249+41G>T (n.3249+41G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333153C=CA1969335009MYBPC3c.3330+41G= (n.3330+41G=)
c.3312+41G= (n.3312+41G=)
c.3249+41G= (n.3249+41G=)
11g.47333153C>GCA2574815752MYBPC3c.3330+41G>C (n.3330+41G>C)
c.3312+41G>C (n.3312+41G>C)
c.3249+41G>C (n.3249+41G>C)
11g.47333153C>TCA079304MYBPC3c.3330+41G>A (n.3330+41G>A)
c.3312+41G>A (n.3312+41G>A)
c.3249+41G>A (n.3249+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333154T>CCA2613393092MYBPC3c.3330+40A>G (n.3330+40A>G)
c.3312+40A>G (n.3312+40A>G)
c.3249+40A>G (n.3249+40A>G)
 gnomAD v4
11g.47333155A>GCA2613393093MYBPC3c.3330+39T>C (n.3330+39T>C)
c.3312+39T>C (n.3312+39T>C)
c.3249+39T>C (n.3249+39T>C)
 gnomAD v4
11g.47333156G>TCA2613393094MYBPC3c.3330+38C>A (n.3330+38C>A)
c.3312+38C>A (n.3312+38C>A)
c.3249+38C>A (n.3249+38C>A)
 gnomAD v4
11g.47333157G>ACA2613393095MYBPC3c.3330+37C>T (n.3330+37C>T)
c.3312+37C>T (n.3312+37C>T)
c.3249+37C>T (n.3249+37C>T)
 gnomAD v4
11g.47333157G>TCA2613393096MYBPC3c.3330+37C>A (n.3330+37C>A)
c.3312+37C>A (n.3312+37C>A)
c.3249+37C>A (n.3249+37C>A)
 gnomAD v4
11g.47333158C>ACA2613393098MYBPC3c.3330+36G>T (n.3330+36G>T)
c.3312+36G>T (n.3312+36G>T)
c.3249+36G>T (n.3249+36G>T)
 gnomAD v4
11g.47333158C>TCA2613393099MYBPC3c.3330+36G>A (n.3330+36G>A)
c.3312+36G>A (n.3312+36G>A)
c.3249+36G>A (n.3249+36G>A)
 gnomAD v4
11g.47333159A>CCA2613393101MYBPC3c.3330+35T>G (n.3330+35T>G)
c.3312+35T>G (n.3312+35T>G)
c.3249+35T>G (n.3249+35T>G)
 gnomAD v4
11g.47333160G>ACA599374328MYBPC3c.3330+34C>T (n.3330+34C>T)
c.3312+34C>T (n.3312+34C>T)
c.3249+34C>T (n.3249+34C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47333160G>CCA079302MYBPC3c.3330+34C>G (n.3330+34C>G)
c.3312+34C>G (n.3312+34C>G)
c.3249+34C>G (n.3249+34C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333160G=CA1969335012MYBPC3c.3330+34C= (n.3330+34C=)
c.3312+34C= (n.3312+34C=)
c.3249+34C= (n.3249+34C=)
11g.47333160G>TCA2613393110MYBPC3c.3330+34C>A (n.3330+34C>A)
c.3312+34C>A (n.3312+34C>A)
c.3249+34C>A (n.3249+34C>A)
 gnomAD v4
11g.47333162delCA2613393108MYBPC3c.3330+34del (n.3330+34del)
c.3312+34del (n.3312+34del)
c.3249+34del (n.3249+34del)
 gnomAD v4
11g.47333161G>ACA599374329MYBPC3c.3330+33C>T (n.3330+33C>T)
c.3312+33C>T (n.3312+33C>T)
c.3249+33C>T (n.3249+33C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47333161G=CA1969335014MYBPC3c.3330+33C= (n.3330+33C=)
c.3312+33C= (n.3312+33C=)
c.3249+33C= (n.3249+33C=)
11g.47333161G>TCA2613393112MYBPC3c.3330+33C>A (n.3330+33C>A)
c.3312+33C>A (n.3312+33C>A)
c.3249+33C>A (n.3249+33C>A)
 gnomAD v4
11g.47333162G>ACA599374330MYBPC3c.3330+32C>T (n.3330+32C>T)
c.3312+32C>T (n.3312+32C>T)
c.3249+32C>T (n.3249+32C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47333162G=CA1969335016MYBPC3c.3330+32C= (n.3330+32C=)
c.3312+32C= (n.3312+32C=)
c.3249+32C= (n.3249+32C=)
11g.47333162G>TCA2613393113MYBPC3c.3330+32C>A (n.3330+32C>A)
c.3312+32C>A (n.3312+32C>A)
c.3249+32C>A (n.3249+32C>A)
 gnomAD v4
11g.47333163T>CCA2613393114MYBPC3c.3330+31A>G (n.3330+31A>G)
c.3312+31A>G (n.3312+31A>G)
c.3249+31A>G (n.3249+31A>G)
 gnomAD v4
11g.47333163T>GCA599374331MYBPC3c.3330+31A>C (n.3330+31A>C)
c.3312+31A>C (n.3312+31A>C)
c.3249+31A>C (n.3249+31A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333163T=CA1969335018MYBPC3c.3330+31A= (n.3330+31A=)
c.3312+31A= (n.3312+31A=)
c.3249+31A= (n.3249+31A=)
11g.47333164G>ACA2574815753MYBPC3c.3330+30C>T (n.3330+30C>T)
c.3312+30C>T (n.3312+30C>T)
c.3249+30C>T (n.3249+30C>T)
 gnomAD v4
11g.47333164G>TCA2613393116MYBPC3c.3330+30C>A (n.3330+30C>A)
c.3312+30C>A (n.3312+30C>A)
c.3249+30C>A (n.3249+30C>A)
 gnomAD v4
11g.47333165C>ACA2613393117MYBPC3c.3330+29G>T (n.3330+29G>T)
c.3312+29G>T (n.3312+29G>T)
c.3249+29G>T (n.3249+29G>T)
 gnomAD v4
11g.47333165C>TCA2613393118MYBPC3c.3330+29G>A (n.3330+29G>A)
c.3312+29G>A (n.3312+29G>A)
c.3249+29G>A (n.3249+29G>A)
 gnomAD v4
11g.47333166A=CA1969335020MYBPC3c.3330+28T= (n.3330+28T=)
c.3312+28T= (n.3312+28T=)
c.3249+28T= (n.3249+28T=)
11g.47333166A>CCA2613393119MYBPC3c.3330+28T>G (n.3330+28T>G)
c.3312+28T>G (n.3312+28T>G)
c.3249+28T>G (n.3249+28T>G)
 gnomAD v4
11g.47333166A>GCA1969335021MYBPC3c.3330+28T>C (n.3330+28T>C)
c.3312+28T>C (n.3312+28T>C)
c.3249+28T>C (n.3249+28T>C)
 dbSNP
11g.47333167C>ACA2613393120MYBPC3c.3330+27G>T (n.3330+27G>T)
c.3312+27G>T (n.3312+27G>T)
c.3249+27G>T (n.3249+27G>T)
 gnomAD v4
11g.47333167C=CA1969335025MYBPC3c.3330+27G= (n.3330+27G=)
c.3312+27G= (n.3312+27G=)
c.3249+27G= (n.3249+27G=)
11g.47333167C>TCA474212112MYBPC3c.3330+27G>A (n.3330+27G>A)
c.3312+27G>A (n.3312+27G>A)
c.3249+27G>A (n.3249+27G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333168delCA2613393121MYBPC3c.3330+26del (n.3330+26del)
c.3312+26del (n.3312+26del)
c.3249+26del (n.3249+26del)
 gnomAD v4
11g.47333168G>ACA079299MYBPC3c.3330+26C>T (n.3330+26C>T)
c.3312+26C>T (n.3312+26C>T)
c.3249+26C>T (n.3249+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333168G=CA1969335026MYBPC3c.3330+26C= (n.3330+26C=)
c.3312+26C= (n.3312+26C=)
c.3249+26C= (n.3249+26C=)
11g.47333168G>TCA2613393122MYBPC3c.3330+26C>A (n.3330+26C>A)
c.3312+26C>A (n.3312+26C>A)
c.3249+26C>A (n.3249+26C>A)
 gnomAD v4
11g.47333169T>CCA599374332MYBPC3c.3330+25A>G (n.3330+25A>G)
c.3312+25A>G (n.3312+25A>G)
c.3249+25A>G (n.3249+25A>G)
 gnomAD v2
11g.47333169_47333170delinsTGCA1969335029MYBPC3c.3330+24_3330+25delinsCA (n.3330+24_3330+25delinsCA)
c.3312+24_3312+25delinsCA (n.3312+24_3312+25delinsCA)
c.3249+24_3249+25delinsCA (n.3249+24_3249+25delinsCA)
11g.47333173_47333188delCA2613393125MYBPC3c.3330+10_3330+25del (n.3330+10_3330+25del)
c.3312+10_3312+25del (n.3312+10_3312+25del)
c.3249+10_3249+25del (n.3249+10_3249+25del)
 gnomAD v4
11g.47333170G>ACA079295MYBPC3c.3330+24C>T (n.3330+24C>T)
c.3312+24C>T (n.3312+24C>T)
c.3249+24C>T (n.3249+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333170G=CA1969335032MYBPC3c.3330+24C= (n.3330+24C=)
c.3312+24C= (n.3312+24C=)
c.3249+24C= (n.3249+24C=)
11g.47333170G>TCA2613393126MYBPC3c.3330+24C>A (n.3330+24C>A)
c.3312+24C>A (n.3312+24C>A)
c.3249+24C>A (n.3249+24C>A)
 gnomAD v4
11g.47333173dupCA1969335031MYBPC3c.3330+24dup (n.3330+24dup)
c.3312+24dup (n.3312+24dup)
c.3249+24dup (n.3249+24dup)
 dbSNP gnomAD v4
11g.47333173delCA053499MYBPC3c.3330+24del (n.3330+24del)
c.3312+24del (n.3312+24del)
c.3249+24del (n.3249+24del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333171G>ACA053507MYBPC3c.3330+23C>T (n.3330+23C>T)
c.3312+23C>T (n.3312+23C>T)
c.3249+23C>T (n.3249+23C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47333171G=CA1969335037MYBPC3c.3330+23C= (n.3330+23C=)
c.3312+23C= (n.3312+23C=)
c.3249+23C= (n.3249+23C=)
11g.47333171G>TCA2613393127MYBPC3c.3330+23C>A (n.3330+23C>A)
c.3312+23C>A (n.3312+23C>A)
c.3249+23C>A (n.3249+23C>A)
 gnomAD v4
11g.47333172G>ACA654413167MYBPC3c.3330+22C>T (n.3330+22C>T)
c.3312+22C>T (n.3312+22C>T)
c.3249+22C>T (n.3249+22C>T)
 gnomAD v4 COSMIC
11g.47333172G>TCA2613393128MYBPC3c.3330+22C>A (n.3330+22C>A)
c.3312+22C>A (n.3312+22C>A)
c.3249+22C>A (n.3249+22C>A)
 gnomAD v4
11g.47333173G>ACA053490MYBPC3c.3330+21C>T (n.3330+21C>T)
c.3312+21C>T (n.3312+21C>T)
c.3249+21C>T (n.3249+21C>T)
 gnomAD v4 COSMIC
11g.47333173G>TCA2613393129MYBPC3c.3330+21C>A (n.3330+21C>A)
c.3312+21C>A (n.3312+21C>A)
c.3249+21C>A (n.3249+21C>A)
 gnomAD v4
11g.47333174A=CA1969335039MYBPC3c.3330+20T= (n.3330+20T=)
c.3312+20T= (n.3312+20T=)
c.3249+20T= (n.3249+20T=)
11g.47333174A>CCA2613393130MYBPC3c.3330+20T>G (n.3330+20T>G)
c.3312+20T>G (n.3312+20T>G)
c.3249+20T>G (n.3249+20T>G)
 gnomAD v4
11g.47333174A>GCA599374333MYBPC3c.3330+20T>C (n.3330+20T>C)
c.3312+20T>C (n.3312+20T>C)
c.3249+20T>C (n.3249+20T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.47333174_47333175delinsACCA1969335041MYBPC3c.3330+19_3330+20delinsGT (n.3330+19_3330+20delinsGT)
c.3312+19_3312+20delinsGT (n.3312+19_3312+20delinsGT)
c.3249+19_3249+20delinsGT (n.3249+19_3249+20delinsGT)
11g.47333175C>ACA2573146362MYBPC3c.3330+19G>T (n.3330+19G>T)
c.3312+19G>T (n.3312+19G>T)
c.3249+19G>T (n.3249+19G>T)
 ClinVar dbSNP gnomAD v4
11g.47333175C=CA1969335044MYBPC3c.3330+19G= (n.3330+19G=)
c.3312+19G= (n.3312+19G=)
c.3249+19G= (n.3249+19G=)
11g.47333175C>TCA599374334MYBPC3c.3330+19G>A (n.3330+19G>A)
c.3312+19G>A (n.3312+19G>A)
c.3249+19G>A (n.3249+19G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333178delCA1969335045MYBPC3c.3330+19del (n.3330+19del)
c.3312+19del (n.3312+19del)
c.3249+19del (n.3249+19del)
 dbSNP gnomAD v4
11g.47333176C>ACA2613393132MYBPC3c.3330+18G>T (n.3330+18G>T)
c.3312+18G>T (n.3312+18G>T)
c.3249+18G>T (n.3249+18G>T)
 gnomAD v4
11g.47333176C>TCA2574815754MYBPC3c.3330+18G>A (n.3330+18G>A)
c.3312+18G>A (n.3312+18G>A)
c.3249+18G>A (n.3249+18G>A)
 gnomAD v4
11g.47333177C>ACA2574815755MYBPC3c.3330+17G>T (n.3330+17G>T)
c.3312+17G>T (n.3312+17G>T)
c.3249+17G>T (n.3249+17G>T)
 gnomAD v4
11g.47333177C>TCA2613393134MYBPC3c.3330+17G>A (n.3330+17G>A)
c.3312+17G>A (n.3312+17G>A)
c.3249+17G>A (n.3249+17G>A)
 gnomAD v4
11g.47333178C>ACA2613393136MYBPC3c.3330+16G>T (n.3330+16G>T)
c.3312+16G>T (n.3312+16G>T)
c.3249+16G>T (n.3249+16G>T)
 gnomAD v4
11g.47333179A>CCA2613393138MYBPC3c.3330+15T>G (n.3330+15T>G)
c.3312+15T>G (n.3312+15T>G)
c.3249+15T>G (n.3249+15T>G)
 gnomAD v4
11g.47333179A>GCA2613393139MYBPC3c.3330+15T>C (n.3330+15T>C)
c.3312+15T>C (n.3312+15T>C)
c.3249+15T>C (n.3249+15T>C)
 gnomAD v4
11g.47333180G>CCA079293MYBPC3c.3330+14C>G (n.3330+14C>G)
c.3312+14C>G (n.3312+14C>G)
c.3249+14C>G (n.3249+14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333180G=CA1969335047MYBPC3c.3330+14C= (n.3330+14C=)
c.3312+14C= (n.3312+14C=)
c.3249+14C= (n.3249+14C=)
11g.47333180G>TCA2613393141MYBPC3c.3330+14C>A (n.3330+14C>A)
c.3312+14C>A (n.3312+14C>A)
c.3249+14C>A (n.3249+14C>A)
 gnomAD v4
11g.47333182C>ACA2613393142MYBPC3c.3330+12G>T (n.3330+12G>T)
c.3312+12G>T (n.3312+12G>T)
c.3249+12G>T (n.3249+12G>T)
 gnomAD v4
11g.47333182C=CA1969335049MYBPC3c.3330+12G= (n.3330+12G=)
c.3312+12G= (n.3312+12G=)
c.3249+12G= (n.3249+12G=)
11g.47333182C>TCA599374335MYBPC3c.3330+12G>A (n.3330+12G>A)
c.3312+12G>A (n.3312+12G>A)
c.3249+12G>A (n.3249+12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333183C>ACA2613393144MYBPC3c.3330+11G>T (n.3330+11G>T)
c.3312+11G>T (n.3312+11G>T)
c.3249+11G>T (n.3249+11G>T)
 gnomAD v4
11g.47333183C=CA1969335054MYBPC3c.3330+11G= (n.3330+11G=)
c.3312+11G= (n.3312+11G=)
c.3249+11G= (n.3249+11G=)
11g.47333183C>TCA599374336MYBPC3c.3330+11G>A (n.3330+11G>A)
c.3312+11G>A (n.3312+11G>A)
c.3249+11G>A (n.3249+11G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333184C>ACA2613393146MYBPC3c.3330+10G>T (n.3330+10G>T)
c.3312+10G>T (n.3312+10G>T)
c.3249+10G>T (n.3249+10G>T)
 gnomAD v4
11g.47333184C>TCA2613393148MYBPC3c.3330+10G>A (n.3330+10G>A)
c.3312+10G>A (n.3312+10G>A)
c.3249+10G>A (n.3249+10G>A)
 gnomAD v4
11g.47333185T>CCA599374337MYBPC3c.3330+9A>G (n.3330+9A>G)
c.3312+9A>G (n.3312+9A>G)
c.3249+9A>G (n.3249+9A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47333185T=CA1969335056MYBPC3c.3330+9A= (n.3330+9A=)
c.3312+9A= (n.3312+9A=)
c.3249+9A= (n.3249+9A=)
11g.47333186G>ACA2507265124MYBPC3c.3330+8C>T (n.3330+8C>T)
c.3312+8C>T (n.3312+8C>T)
c.3249+8C>T (n.3249+8C>T)
 gnomAD v4
11g.47333186G>TCA2613393149MYBPC3c.3330+8C>A (n.3330+8C>A)
c.3312+8C>A (n.3312+8C>A)
c.3249+8C>A (n.3249+8C>A)
 gnomAD v4
11g.47333187G>ACA2613393150MYBPC3c.3330+7C>T (n.3330+7C>T)
c.3312+7C>T (n.3312+7C>T)
c.3249+7C>T (n.3249+7C>T)
 gnomAD v4
11g.47333187G>TCA2613393151MYBPC3c.3330+7C>A (n.3330+7C>A)
c.3312+7C>A (n.3312+7C>A)
c.3249+7C>A (n.3249+7C>A)
 gnomAD v4
11g.47333188G>ACA2613393152MYBPC3c.3330+6C>T (n.3330+6C>T)
c.3312+6C>T (n.3312+6C>T)
c.3249+6C>T (n.3249+6C>T)
 gnomAD v4
11g.47333188G>TCA2613393153MYBPC3c.3330+6C>A (n.3330+6C>A)
c.3312+6C>A (n.3312+6C>A)
c.3249+6C>A (n.3249+6C>A)
 gnomAD v4
11g.47333189C>ACA013974MYBPC3c.3330+5G>T (n.3330+5G>T)
c.3312+5G>T (n.3312+5G>T)
c.3249+5G>T (n.3249+5G>T)
 ClinVar dbSNP gnomAD v4
11g.47333189C=CA1969335072MYBPC3c.3330+5G= (n.3330+5G=)
c.3312+5G= (n.3312+5G=)
c.3249+5G= (n.3249+5G=)
11g.47333189C>GCA013966MYBPC3c.3330+5G>C (n.3330+5G>C)
c.3312+5G>C (n.3312+5G>C)
c.3249+5G>C (n.3249+5G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333189C>TCA013957MYBPC3c.3330+5G>A (n.3330+5G>A)
c.3312+5G>A (n.3312+5G>A)
c.3249+5G>A (n.3249+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333191C>ACA916081636MYBPC3c.3330+3G>T (n.3330+3G>T)
c.3312+3G>T (n.3312+3G>T)
c.3249+3G>T (n.3249+3G>T)
 ClinVar dbSNP gnomAD v4
11g.47333191C=CA1969335076MYBPC3c.3330+3G= (n.3330+3G=)
c.3312+3G= (n.3312+3G=)
c.3249+3G= (n.3249+3G=)
11g.47333191C>TCA2613393159MYBPC3c.3330+3G>A (n.3330+3G>A)
c.3312+3G>A (n.3312+3G>A)
c.3249+3G>A (n.3249+3G>A)
 ClinVar gnomAD v4
11g.47333192A=CA1969335082MYBPC3c.3330+2T= (n.3330+2T=)
c.3312+2T= (n.3312+2T=)
c.3249+2T= (n.3249+2T=)
11g.47333192A>CCA013951MYBPC3c.3330+2T>G (n.3330+2T>G)
c.3312+2T>G (n.3312+2T>G)
c.3249+2T>G (n.3249+2T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333192A>GCA013942MYBPC3c.3330+2T>C (n.3330+2T>C)
c.3312+2T>C (n.3312+2T>C)
c.3249+2T>C (n.3249+2T>C)
 ClinVar dbSNP
11g.47333192A>TCA380313996MYBPC3c.3330+2T>A (n.3330+2T>A)
c.3312+2T>A (n.3312+2T>A)
c.3249+2T>A (n.3249+2T>A)
 ClinVar dbSNP
11g.47333193C>ACA380314001MYBPC3c.3330+1G>T (n.3330+1G>T)
c.3312+1G>T (n.3312+1G>T)
c.3249+1G>T (n.3249+1G>T)
 ClinVar dbSNP
11g.47333193C=CA1969335087MYBPC3c.3330+1G= (n.3330+1G=)
c.3312+1G= (n.3312+1G=)
c.3249+1G= (n.3249+1G=)
11g.47333193C>GCA380314004MYBPC3c.3330+1G>C (n.3330+1G>C)
c.3312+1G>C (n.3312+1G>C)
c.3249+1G>C (n.3249+1G>C)
 dbSNP
11g.47333193C>TCA380314003MYBPC3c.3330+1G>A (n.3330+1G>A)
c.3312+1G>A (n.3312+1G>A)
c.3249+1G>A (n.3249+1G>A)
 gnomAD v4
11g.47333194C>ACA380314006MYBPC3c.3330G>T (p.Met1110Ile)
c.3312G>T (p.Met1104Ile)
c.3249G>T (p.Met1083Ile)
 gnomAD v4
11g.47333194C>GCA380314010MYBPC3c.3330G>C (p.Met1110Ile)
c.3312G>C (p.Met1104Ile)
c.3249G>C (p.Met1083Ile)
11g.47333194C>TCA380314008MYBPC3c.3330G>A (p.Met1110Ile)
c.3312G>A (p.Met1104Ile)
c.3249G>A (p.Met1083Ile)
11g.47333195A=CA1969335090MYBPC3c.3329T= (p.Met1110=)
c.3311T= (p.Met1104=)
c.3248T= (p.Met1083=)
11g.47333195A>CCA380314012MYBPC3c.3329T>G (p.Met1110Arg)
c.3311T>G (p.Met1104Arg)
c.3248T>G (p.Met1083Arg)
11g.47333195A>GCA380314015MYBPC3c.3329T>C (p.Met1110Thr)
c.3311T>C (p.Met1104Thr)
c.3248T>C (p.Met1083Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333195A>TCA380314014MYBPC3c.3329T>A (p.Met1110Lys)
c.3311T>A (p.Met1104Lys)
c.3248T>A (p.Met1083Lys)
11g.47333196delCA2573051238MYBPC3c.3328del (p.Met1110TrpfsTer?)
c.3310del (p.Met1104TrpfsTer?)
c.3247del (p.Met1083TrpfsTer?)
 ClinVar dbSNP
11g.47333196T>ACA380314016MYBPC3c.3328A>T (p.Met1110Leu)
c.3310A>T (p.Met1104Leu)
c.3247A>T (p.Met1083Leu)
11g.47333196T>CCA380314018MYBPC3c.3328A>G (p.Met1110Val)
c.3310A>G (p.Met1104Val)
c.3247A>G (p.Met1083Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333196T>GCA380314017MYBPC3c.3328A>C (p.Met1110Leu)
c.3310A>C (p.Met1104Leu)
c.3247A>C (p.Met1083Leu)
11g.47333196T=CA1969335095MYBPC3c.3328A= (p.Met1110=)
c.3310A= (p.Met1104=)
c.3247A= (p.Met1083=)
11g.47333196_47333197delinsTGCA1969335094MYBPC3c.3327_3328delinsCA (p.Thr1109=)
c.3309_3310delinsCA (p.Thr1103=)
c.3246_3247delinsCA (p.Thr1082=)
11g.47333198_47333217delCA2573146363MYBPC3c.3309_3328del (p.Gln1103HisfsTer?)
c.3291_3310del (p.Gln1097HisfsTer?)
c.3228_3247del (p.Gln1076HisfsTer?)
 ClinVar dbSNP
11g.47333197G>ACA474212128MYBPC3c.3327C>T (p.Thr1109=)
c.3309C>T (p.Thr1103=)
c.3246C>T (p.Thr1082=)
 dbSNP gnomAD v4
11g.47333197G>CCA474212126MYBPC3c.3327C>G (p.Thr1109=)
c.3309C>G (p.Thr1103=)
c.3246C>G (p.Thr1082=)
11g.47333197G=CA1969335104MYBPC3c.3327C= (p.Thr1109=)
c.3309C= (p.Thr1103=)
c.3246C= (p.Thr1082=)
11g.47333197G>TCA079291MYBPC3c.3327C>A (p.Thr1109=)
c.3309C>A (p.Thr1103=)
c.3246C>A (p.Thr1082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333198delCA013926MYBPC3c.3327del (p.Met1110TrpfsTer?)
c.3309del (p.Met1104TrpfsTer?)
c.3246del (p.Met1083TrpfsTer?)
 ClinVar dbSNP
11g.47333198G>ACA013920MYBPC3c.3326C>T (p.Thr1109Ile)
c.3308C>T (p.Thr1103Ile)
c.3245C>T (p.Thr1082Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333198G>CCA380314019MYBPC3c.3326C>G (p.Thr1109Ser)
c.3308C>G (p.Thr1103Ser)
c.3245C>G (p.Thr1082Ser)
 dbSNP
11g.47333198G=CA1969335115MYBPC3c.3326C= (p.Thr1109=)
c.3308C= (p.Thr1103=)
c.3245C= (p.Thr1082=)
11g.47333198G>TCA380314020MYBPC3c.3326C>A (p.Thr1109Asn)
c.3308C>A (p.Thr1103Asn)
c.3245C>A (p.Thr1082Asn)
 ClinVar dbSNP gnomAD v4
11g.47333198_47333200delinsGTCCA1969335109MYBPC3c.3324_3326delinsGAC (p.Lys1108=)
c.3306_3308delinsGAC (p.Lys1102=)
c.3243_3245delinsGAC (p.Lys1081=)
11g.47333198_47333201delinsGTCTCA1969335110MYBPC3c.3323_3326delinsAGAC (p.Lys1108=)
c.3305_3308delinsAGAC (p.Lys1102=)
c.3242_3245delinsAGAC (p.Lys1081=)
11g.47333199T>ACA380314021MYBPC3c.3325A>T (p.Thr1109Ser)
c.3307A>T (p.Thr1103Ser)
c.3244A>T (p.Thr1082Ser)
11g.47333199T>CCA380314022MYBPC3c.3325A>G (p.Thr1109Ala)
c.3307A>G (p.Thr1103Ala)
c.3244A>G (p.Thr1082Ala)
 ClinVar dbSNP gnomAD v4
11g.47333199T>GCA380314023MYBPC3c.3325A>C (p.Thr1109Pro)
c.3307A>C (p.Thr1103Pro)
c.3244A>C (p.Thr1082Pro)
11g.47333199T=CA1969335128MYBPC3c.3325A= (p.Thr1109=)
c.3307A= (p.Thr1103=)
c.3244A= (p.Thr1082=)
11g.47333200_47333201delCA16609416MYBPC3c.3324_3325del (p.Lys1108AsnfsTer?)
c.3306_3307del (p.Lys1102AsnfsTer?)
c.3243_3244del (p.Lys1081AsnfsTer?)
 ClinVar dbSNP
11g.47333203_47333205delCA079287MYBPC3c.3323_3325del (p.Lys1108del)
c.3305_3307del (p.Lys1102del)
c.3242_3244del (p.Lys1081del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333200C>ACA380314024MYBPC3c.3324G>T (p.Lys1108Asn)
c.3306G>T (p.Lys1102Asn)
c.3243G>T (p.Lys1081Asn)
 gnomAD v4
11g.47333200C=CA1969335134MYBPC3c.3324G= (p.Lys1108=)
c.3306G= (p.Lys1102=)
c.3243G= (p.Lys1081=)
11g.47333200C>GCA079289MYBPC3c.3324G>C (p.Lys1108Asn)
c.3306G>C (p.Lys1102Asn)
c.3243G>C (p.Lys1081Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333200C>TCA474212137MYBPC3c.3324G>A (p.Lys1108=)
c.3306G>A (p.Lys1102=)
c.3243G>A (p.Lys1081=)
11g.47333201T>ACA053439MYBPC3c.3323A>T (p.Lys1108Met)
c.3305A>T (p.Lys1102Met)
c.3242A>T (p.Lys1081Met)
 gnomAD v4
11g.47333201T>CCA380314025MYBPC3c.3323A>G (p.Lys1108Arg)
c.3305A>G (p.Lys1102Arg)
c.3242A>G (p.Lys1081Arg)
11g.47333201T>GCA013910MYBPC3c.3323A>C (p.Lys1108Thr)
c.3305A>C (p.Lys1102Thr)
c.3242A>C (p.Lys1081Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333201T=CA1969335137MYBPC3c.3323A= (p.Lys1108=)
c.3305A= (p.Lys1102=)
c.3242A= (p.Lys1081=)
11g.47333202T>ACA380314026MYBPC3c.3322A>T (p.Lys1108Ter)
c.3304A>T (p.Lys1102Ter)
c.3241A>T (p.Lys1081Ter)
11g.47333202T>CCA380314027MYBPC3c.3322A>G (p.Lys1108Glu)
c.3304A>G (p.Lys1102Glu)
c.3241A>G (p.Lys1081Glu)
11g.47333202T>GCA380314028MYBPC3c.3322A>C (p.Lys1108Gln)
c.3304A>C (p.Lys1102Gln)
c.3241A>C (p.Lys1081Gln)
11g.47333202T=CA1969335141MYBPC3c.3322A= (p.Lys1108=)
c.3304A= (p.Lys1102=)
c.3241A= (p.Lys1081=)
11g.47333203C>ACA380314029MYBPC3c.3321G>T (p.Lys1107Asn)
c.3303G>T (p.Lys1101Asn)
c.3240G>T (p.Lys1080Asn)
 gnomAD v4 COSMIC COSMIC
11g.47333203C>GCA053474MYBPC3c.3321G>C (p.Lys1107Asn)
c.3303G>C (p.Lys1101Asn)
c.3240G>C (p.Lys1080Asn)
11g.47333203C>TCA474212139MYBPC3c.3321G>A (p.Lys1107=)
c.3303G>A (p.Lys1101=)
c.3240G>A (p.Lys1080=)
 gnomAD v4
11g.47333203dupCA296434MYBPC3c.3321dup (p.Lys1108GlufsTer?)
c.3303dup (p.Lys1102GlufsTer?)
c.3240dup (p.Lys1081GlufsTer?)
 ClinVar dbSNP
11g.47333204T>ACA380314030MYBPC3c.3320A>T (p.Lys1107Met)
c.3302A>T (p.Lys1101Met)
c.3239A>T (p.Lys1080Met)
11g.47333204T>CCA380314031MYBPC3c.3320A>G (p.Lys1107Arg)
c.3302A>G (p.Lys1101Arg)
c.3239A>G (p.Lys1080Arg)
 gnomAD v4
11g.47333204T>GCA053467MYBPC3c.3320A>C (p.Lys1107Thr)
c.3302A>C (p.Lys1101Thr)
c.3239A>C (p.Lys1080Thr)
11g.47333205T>ACA380314033MYBPC3c.3319A>T (p.Lys1107Ter)
c.3301A>T (p.Lys1101Ter)
c.3238A>T (p.Lys1080Ter)
11g.47333205T>CCA380314034MYBPC3c.3319A>G (p.Lys1107Glu)
c.3301A>G (p.Lys1101Glu)
c.3238A>G (p.Lys1080Glu)
 dbSNP
11g.47333205T>GCA380314032MYBPC3c.3319A>C (p.Lys1107Gln)
c.3301A>C (p.Lys1101Gln)
c.3238A>C (p.Lys1080Gln)
11g.47333205T=CA1969335147MYBPC3c.3319A= (p.Lys1107=)
c.3301A= (p.Lys1101=)
c.3238A= (p.Lys1080=)
11g.47333206G>ACA474212143MYBPC3c.3318C>T (p.Asp1106=)
c.3300C>T (p.Asp1100=)
c.3237C>T (p.Asp1079=)
11g.47333206G>CCA053543MYBPC3c.3318C>G (p.Asp1106Glu)
c.3300C>G (p.Asp1100Glu)
c.3237C>G (p.Asp1079Glu)
 gnomAD v4
11g.47333206G>TCA380314035MYBPC3c.3318C>A (p.Asp1106Glu)
c.3300C>A (p.Asp1100Glu)
c.3237C>A (p.Asp1079Glu)
 gnomAD v4
11g.47333207T>ACA380314036MYBPC3c.3317A>T (p.Asp1106Val)
c.3299A>T (p.Asp1100Val)
c.3236A>T (p.Asp1079Val)
11g.47333207T>CCA380314037MYBPC3c.3317A>G (p.Asp1106Gly)
c.3299A>G (p.Asp1100Gly)
c.3236A>G (p.Asp1079Gly)
11g.47333207T>GCA380314038MYBPC3c.3317A>C (p.Asp1106Ala)
c.3299A>C (p.Asp1100Ala)
c.3236A>C (p.Asp1079Ala)
11g.47333208delCA2613393216MYBPC3c.3316del (p.Asp1106ThrfsTer?)
c.3298del (p.Asp1100ThrfsTer?)
c.3235del (p.Asp1079ThrfsTer?)
 gnomAD v4
11g.47333208C>ACA380314040MYBPC3c.3316G>T (p.Asp1106Tyr)
c.3298G>T (p.Asp1100Tyr)
c.3235G>T (p.Asp1079Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.47333208C=CA1969335155MYBPC3c.3316G= (p.Asp1106=)
c.3298G= (p.Asp1100=)
c.3235G= (p.Asp1079=)
11g.47333208C>GCA380314039MYBPC3c.3316G>C (p.Asp1106His)
c.3298G>C (p.Asp1100His)
c.3235G>C (p.Asp1079His)
11g.47333208C>TCA079283MYBPC3c.3316G>A (p.Asp1106Asn)
c.3298G>A (p.Asp1100Asn)
c.3235G>A (p.Asp1079Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47333208_47333209delinsCGCA1969335157MYBPC3c.3315_3316delinsCG (p.Ala1105=)
c.3297_3298delinsCG (p.Ala1099=)
c.3234_3235delinsCG (p.Ala1078=)
11g.47333209G>ACA013897MYBPC3c.3315C>T (p.Ala1105=)
c.3297C>T (p.Ala1099=)
c.3234C>T (p.Ala1078=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333209G>CCA474212145MYBPC3c.3315C>G (p.Ala1105=)
c.3297C>G (p.Ala1099=)
c.3234C>G (p.Ala1078=)
 gnomAD v4
11g.47333209G=CA1969335175MYBPC3c.3315C= (p.Ala1105=)
c.3297C= (p.Ala1099=)
c.3234C= (p.Ala1078=)
11g.47333209G>TCA013887MYBPC3c.3315C>A (p.Ala1105=)
c.3297C>A (p.Ala1099=)
c.3234C>A (p.Ala1078=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333210delCA913189586MYBPC3c.3315del (p.Asp1106ThrfsTer?)
c.3297del (p.Asp1100ThrfsTer?)
c.3234del (p.Asp1079ThrfsTer?)
 dbSNP
11g.47333210G>ACA380314041MYBPC3c.3314C>T (p.Ala1105Val)
c.3296C>T (p.Ala1099Val)
c.3233C>T (p.Ala1078Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333210G>CCA013879MYBPC3c.3314C>G (p.Ala1105Gly)
c.3296C>G (p.Ala1099Gly)
c.3233C>G (p.Ala1078Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.47333210G=CA1969335184MYBPC3c.3314C= (p.Ala1105=)
c.3296C= (p.Ala1099=)
c.3233C= (p.Ala1078=)
11g.47333210G>TCA380314043MYBPC3c.3314C>A (p.Ala1105Asp)
c.3296C>A (p.Ala1099Asp)
c.3233C>A (p.Ala1078Asp)
 gnomAD v4
11g.47333211C>ACA380314045MYBPC3c.3313G>T (p.Ala1105Ser)
c.3295G>T (p.Ala1099Ser)
c.3232G>T (p.Ala1078Ser)
 gnomAD v4
11g.47333211C>GCA380314047MYBPC3c.3313G>C (p.Ala1105Pro)
c.3295G>C (p.Ala1099Pro)
c.3232G>C (p.Ala1078Pro)
 ClinVar dbSNP
11g.47333211C>TCA053426MYBPC3c.3313G>A (p.Ala1105Thr)
c.3295G>A (p.Ala1099Thr)
c.3232G>A (p.Ala1078Thr)
 gnomAD v4
11g.47333211_47333212insCCCA915940858MYBPC3c.3313_3314insGG (p.Ala1105GlyfsTer?)
c.3295_3296insGG (p.Ala1099GlyfsTer?)
c.3232_3233insGG (p.Ala1078GlyfsTer?)
 ClinVar dbSNP
11g.47333212T>ACA380314050MYBPC3c.3312A>T (p.Lys1104Asn)
c.3294A>T (p.Lys1098Asn)
c.3231A>T (p.Lys1077Asn)
11g.47333212T>CCA474212146MYBPC3c.3312A>G (p.Lys1104=)
c.3294A>G (p.Lys1098=)
c.3231A>G (p.Lys1077=)
 gnomAD v4
11g.47333212T>GCA380314052MYBPC3c.3312A>C (p.Lys1104Asn)
c.3294A>C (p.Lys1098Asn)
c.3231A>C (p.Lys1077Asn)
11g.47333213T>ACA380314054MYBPC3c.3311A>T (p.Lys1104Ile)
c.3293A>T (p.Lys1098Ile)
c.3230A>T (p.Lys1077Ile)
11g.47333213T>CCA380314056MYBPC3c.3311A>G (p.Lys1104Arg)
c.3293A>G (p.Lys1098Arg)
c.3230A>G (p.Lys1077Arg)
 dbSNP gnomAD v4
11g.47333213T>GCA380314057MYBPC3c.3311A>C (p.Lys1104Thr)
c.3293A>C (p.Lys1098Thr)
c.3230A>C (p.Lys1077Thr)
11g.47333213T=CA1969335189MYBPC3c.3311A= (p.Lys1104=)
c.3293A= (p.Lys1098=)
c.3230A= (p.Lys1077=)
11g.47333214T>ACA380314058MYBPC3c.3310A>T (p.Lys1104Ter)
c.3292A>T (p.Lys1098Ter)
c.3229A>T (p.Lys1077Ter)
11g.47333214T>CCA380314060MYBPC3c.3310A>G (p.Lys1104Glu)
c.3292A>G (p.Lys1098Glu)
c.3229A>G (p.Lys1077Glu)
11g.47333214T>GCA380314062MYBPC3c.3310A>C (p.Lys1104Gln)
c.3292A>C (p.Lys1098Gln)
c.3229A>C (p.Lys1077Gln)
11g.47333215C>ACA380314064MYBPC3c.3309G>T (p.Gln1103His)
c.3291G>T (p.Gln1097His)
c.3228G>T (p.Gln1076His)
 gnomAD v4
11g.47333215C=CA1969335194MYBPC3c.3309G= (p.Gln1103=)
c.3291G= (p.Gln1097=)
c.3228G= (p.Gln1076=)
11g.47333215C>GCA221682453MYBPC3c.3309G>C (p.Gln1103His)
c.3291G>C (p.Gln1097His)
c.3228G>C (p.Gln1076His)
 dbSNP gnomAD v3 gnomAD v4
11g.47333215C>TCA079280MYBPC3c.3309G>A (p.Gln1103=)
c.3291G>A (p.Gln1097=)
c.3228G>A (p.Gln1076=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333216T>ACA380314069MYBPC3c.3308A>T (p.Gln1103Leu)
c.3290A>T (p.Gln1097Leu)
c.3227A>T (p.Gln1076Leu)
11g.47333216T>CCA380314068MYBPC3c.3308A>G (p.Gln1103Arg)
c.3290A>G (p.Gln1097Arg)
c.3227A>G (p.Gln1076Arg)
11g.47333216T>GCA013870MYBPC3c.3308A>C (p.Gln1103Pro)
c.3290A>C (p.Gln1097Pro)
c.3227A>C (p.Gln1076Pro)
 ClinVar dbSNP gnomAD v4
11g.47333216T=CA1969335199MYBPC3c.3308A= (p.Gln1103=)
c.3290A= (p.Gln1097=)
c.3227A= (p.Gln1076=)
11g.47333218_47333224delCA2573146364MYBPC3c.3302_3308del (p.Thr1101ArgfsTer?)
c.3284_3290del (p.Thr1095ArgfsTer?)
c.3221_3227del (p.Thr1074ArgfsTer?)
 ClinVar dbSNP
11g.47333217G>ACA380314072MYBPC3c.3307C>T (p.Gln1103Ter)
c.3289C>T (p.Gln1097Ter)
c.3226C>T (p.Gln1076Ter)
 gnomAD v4
11g.47333217G>CCA380314075MYBPC3c.3307C>G (p.Gln1103Glu)
c.3289C>G (p.Gln1097Glu)
c.3226C>G (p.Gln1076Glu)
11g.47333217G>TCA380314074MYBPC3c.3307C>A (p.Gln1103Lys)
c.3289C>A (p.Gln1097Lys)
c.3226C>A (p.Gln1076Lys)
 gnomAD v4
11g.47333218C>ACA474212147MYBPC3c.3306G>T (p.Val1102=)
c.3288G>T (p.Val1096=)
c.3225G>T (p.Val1075=)
 gnomAD v4
11g.47333218C=CA1969335205MYBPC3c.3306G= (p.Val1102=)
c.3288G= (p.Val1096=)
c.3225G= (p.Val1075=)
11g.47333218C>GCA474212148MYBPC3c.3306G>C (p.Val1102=)
c.3288G>C (p.Val1096=)
c.3225G>C (p.Val1075=)
 gnomAD v4
11g.47333218C>TCA053393MYBPC3c.3306G>A (p.Val1102=)
c.3288G>A (p.Val1096=)
c.3225G>A (p.Val1075=)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.47333219A=CA1969335211MYBPC3c.3305T= (p.Val1102=)
c.3287T= (p.Val1096=)
c.3224T= (p.Val1075=)
11g.47333219A>CCA380314076MYBPC3c.3305T>G (p.Val1102Gly)
c.3287T>G (p.Val1096Gly)
c.3224T>G (p.Val1075Gly)
11g.47333219A>GCA380314078MYBPC3c.3305T>C (p.Val1102Ala)
c.3287T>C (p.Val1096Ala)
c.3224T>C (p.Val1075Ala)
 ClinVar dbSNP gnomAD v4
11g.47333219A>TCA013860MYBPC3c.3305T>A (p.Val1102Glu)
c.3287T>A (p.Val1096Glu)
c.3224T>A (p.Val1075Glu)
 ClinVar dbSNP
11g.47333220C>ACA380314080MYBPC3c.3304G>T (p.Val1102Leu)
c.3286G>T (p.Val1096Leu)
c.3223G>T (p.Val1075Leu)
11g.47333220C=CA1969335216MYBPC3c.3304G= (p.Val1102=)
c.3286G= (p.Val1096=)
c.3223G= (p.Val1075=)
11g.47333220C>GCA380314082MYBPC3c.3304G>C (p.Val1102Leu)
c.3286G>C (p.Val1096Leu)
c.3223G>C (p.Val1075Leu)
 gnomAD v4
11g.47333220C>TCA380314084MYBPC3c.3304G>A (p.Val1102Met)
c.3286G>A (p.Val1096Met)
c.3223G>A (p.Val1075Met)
 dbSNP gnomAD v2 gnomAD v4
11g.47333220_47333221delCA2697548539MYBPC3c.3303_3304del (p.Val1102AlafsTer?)
c.3285_3286del (p.Val1096AlafsTer?)
c.3222_3223del (p.Val1075AlafsTer?)
 ClinVar
11g.47333220_47333222delinsCTGCA1969335217MYBPC3c.3302_3304delinsCAG (p.Thr1101=)
c.3284_3286delinsCAG (p.Thr1095=)
c.3221_3223delinsCAG (p.Thr1074=)
11g.47333221T>ACA474212149MYBPC3c.3303A>T (p.Thr1101=)
c.3285A>T (p.Thr1095=)
c.3222A>T (p.Thr1074=)
 dbSNP
11g.47333221T>CCA079278MYBPC3c.3303A>G (p.Thr1101=)
c.3285A>G (p.Thr1095=)
c.3222A>G (p.Thr1074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333221T>GCA474212150MYBPC3c.3303A>C (p.Thr1101=)
c.3285A>C (p.Thr1095=)
c.3222A>C (p.Thr1074=)
 gnomAD v4
11g.47333221T=CA1969335226MYBPC3c.3303A= (p.Thr1101=)
c.3285A= (p.Thr1095=)
c.3222A= (p.Thr1074=)
11g.47333221_47333222delinsTGCA1969335223MYBPC3c.3302_3303delinsCA (p.Thr1101=)
c.3284_3285delinsCA (p.Thr1095=)
c.3221_3222delinsCA (p.Thr1074=)
11g.47333224_47333225delCA013844MYBPC3c.3302_3303del (p.Thr1101SerfsTer?)
c.3284_3285del (p.Thr1095SerfsTer?)
c.3221_3222del (p.Thr1074SerfsTer?)
 ClinVar dbSNP
11g.47333222delCA013852MYBPC3c.3302del (p.Thr1101LysfsTer?)
c.3284del (p.Thr1095LysfsTer?)
c.3221del (p.Thr1074LysfsTer?)
 ClinVar dbSNP
11g.47333222G>ACA380314088MYBPC3c.3302C>T (p.Thr1101Ile)
c.3284C>T (p.Thr1095Ile)
c.3221C>T (p.Thr1074Ile)
 ClinVar dbSNP gnomAD v4
11g.47333222G>CCA380314089MYBPC3c.3302C>G (p.Thr1101Arg)
c.3284C>G (p.Thr1095Arg)
c.3221C>G (p.Thr1074Arg)
 dbSNP
11g.47333222G=CA1969335232MYBPC3c.3302C= (p.Thr1101=)
c.3284C= (p.Thr1095=)
c.3221C= (p.Thr1074=)
11g.47333222G>TCA380314091MYBPC3c.3302C>A (p.Thr1101Lys)
c.3284C>A (p.Thr1095Lys)
c.3221C>A (p.Thr1074Lys)
 gnomAD v4
11g.47333223T>ACA380314098MYBPC3c.3301A>T (p.Thr1101Ser)
c.3283A>T (p.Thr1095Ser)
c.3220A>T (p.Thr1074Ser)
11g.47333223T>CCA380314094MYBPC3c.3301A>G (p.Thr1101Ala)
c.3283A>G (p.Thr1095Ala)
c.3220A>G (p.Thr1074Ala)
 ClinVar dbSNP gnomAD v4
11g.47333223T>GCA380314096MYBPC3c.3301A>C (p.Thr1101Pro)
c.3283A>C (p.Thr1095Pro)
c.3220A>C (p.Thr1074Pro)
11g.47333223T=CA1969335236MYBPC3c.3301A= (p.Thr1101=)
c.3283A= (p.Thr1095=)
c.3220A= (p.Thr1074=)
11g.47333224delCA2695213923MYBPC3c.3300del (p.Tyr1100Ter)
c.3282del (p.Tyr1094Ter)
c.3219del (p.Tyr1073Ter)
11g.47333224G>ACA474212152MYBPC3c.3300C>T (p.Tyr1100=)
c.3282C>T (p.Tyr1094=)
c.3219C>T (p.Tyr1073=)
 dbSNP gnomAD v4
11g.47333224G>CCA380314100MYBPC3c.3300C>G (p.Tyr1100Ter)
c.3282C>G (p.Tyr1094Ter)
c.3219C>G (p.Tyr1073Ter)
11g.47333224G=CA1969335243MYBPC3c.3300C= (p.Tyr1100=)
c.3282C= (p.Tyr1094=)
c.3219C= (p.Tyr1073=)
11g.47333224G>TCA279299MYBPC3c.3300C>A (p.Tyr1100Ter)
c.3282C>A (p.Tyr1094Ter)
c.3219C>A (p.Tyr1073Ter)
 ClinVar dbSNP gnomAD v4
11g.47333225T>ACA079275MYBPC3c.3299A>T (p.Tyr1100Phe)
c.3281A>T (p.Tyr1094Phe)
c.3218A>T (p.Tyr1073Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333225T>CCA380314103MYBPC3c.3299A>G (p.Tyr1100Cys)
c.3281A>G (p.Tyr1094Cys)
c.3218A>G (p.Tyr1073Cys)
 gnomAD v4
11g.47333225T>GCA380314105MYBPC3c.3299A>C (p.Tyr1100Ser)
c.3281A>C (p.Tyr1094Ser)
c.3218A>C (p.Tyr1073Ser)
11g.47333225T=CA1969335250MYBPC3c.3299A= (p.Tyr1100=)
c.3281A= (p.Tyr1094=)
c.3218A= (p.Tyr1073=)
11g.47333225_47333226insCCA2695213924MYBPC3c.3298_3299insG (p.Tyr1100Ter)
c.3280_3281insG (p.Tyr1094Ter)
c.3217_3218insG (p.Tyr1073Ter)
11g.47333226A=CA1969335254MYBPC3c.3298T= (p.Tyr1100=)
c.3280T= (p.Tyr1094=)
c.3217T= (p.Tyr1073=)
11g.47333226A>CCA380314107MYBPC3c.3298T>G (p.Tyr1100Asp)
c.3280T>G (p.Tyr1094Asp)
c.3217T>G (p.Tyr1073Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333226A>GCA380314109MYBPC3c.3298T>C (p.Tyr1100His)
c.3280T>C (p.Tyr1094His)
c.3217T>C (p.Tyr1073His)
 gnomAD v4
11g.47333226A>TCA079274MYBPC3c.3298T>A (p.Tyr1100Asn)
c.3280T>A (p.Tyr1094Asn)
c.3217T>A (p.Tyr1073Asn)
 dbSNP ExAC
11g.47333227C>ACA474212157MYBPC3c.3297G>T (p.Gly1099=)
c.3279G>T (p.Gly1093=)
c.3216G>T (p.Gly1072=)
 ClinVar dbSNP gnomAD v4
11g.47333227C=CA1969335260MYBPC3c.3297G= (p.Gly1099=)
c.3279G= (p.Gly1093=)
c.3216G= (p.Gly1072=)
11g.47333227C>GCA474212158MYBPC3c.3297G>C (p.Gly1099=)
c.3279G>C (p.Gly1093=)
c.3216G>C (p.Gly1072=)
 dbSNP
11g.47333227C>TCA079272MYBPC3c.3297G>A (p.Gly1099=)
c.3279G>A (p.Gly1093=)
c.3216G>A (p.Gly1072=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333231dupCA013831MYBPC3c.3297dup (p.Tyr1100ValfsTer?)
c.3279dup (p.Tyr1094ValfsTer?)
c.3216dup (p.Tyr1073ValfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333231delCA2613393325MYBPC3c.3297del (p.Tyr1100ThrfsTer?)
c.3279del (p.Tyr1094ThrfsTer?)
c.3216del (p.Tyr1073ThrfsTer?)
 gnomAD v4
11g.47333230_47333231delCA915940862MYBPC3c.3296_3297del (p.Gly1099ValfsTer?)
c.3278_3279del (p.Gly1093ValfsTer?)
c.3215_3216del (p.Gly1072ValfsTer?)
11g.47333228C>ACA380314116MYBPC3c.3296G>T (p.Gly1099Val)
c.3278G>T (p.Gly1093Val)
c.3215G>T (p.Gly1072Val)
 gnomAD v4
11g.47333228C=CA1969335263MYBPC3c.3296G= (p.Gly1099=)
c.3278G= (p.Gly1093=)
c.3215G= (p.Gly1072=)
11g.47333228C>GCA380314115MYBPC3c.3296G>C (p.Gly1099Ala)
c.3278G>C (p.Gly1093Ala)
c.3215G>C (p.Gly1072Ala)
 gnomAD v4
11g.47333228C>TCA380314113MYBPC3c.3296G>A (p.Gly1099Glu)
c.3278G>A (p.Gly1093Glu)
c.3215G>A (p.Gly1072Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.47333229C>ACA380314118MYBPC3c.3295G>T (p.Gly1099Trp)
c.3277G>T (p.Gly1093Trp)
c.3214G>T (p.Gly1072Trp)
 ClinVar dbSNP
11g.47333229C=CA1969335265MYBPC3c.3295G= (p.Gly1099=)
c.3277G= (p.Gly1093=)
c.3214G= (p.Gly1072=)
11g.47333229C>GCA16619333MYBPC3c.3295G>C (p.Gly1099Arg)
c.3277G>C (p.Gly1093Arg)
c.3214G>C (p.Gly1072Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333229C>TCA380314121MYBPC3c.3295G>A (p.Gly1099Arg)
c.3277G>A (p.Gly1093Arg)
c.3214G>A (p.Gly1072Arg)
 gnomAD v4
11g.47333230C>ACA079269MYBPC3c.3294G>T (p.Trp1098Cys)
c.3276G>T (p.Trp1092Cys)
c.3213G>T (p.Trp1071Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333230C=CA1969335267MYBPC3c.3294G= (p.Trp1098=)
c.3276G= (p.Trp1092=)
c.3213G= (p.Trp1071=)
11g.47333230C>GCA380314124MYBPC3c.3294G>C (p.Trp1098Cys)
c.3276G>C (p.Trp1092Cys)
c.3213G>C (p.Trp1071Cys)
 ClinVar dbSNP gnomAD v4
11g.47333230C>TCA053346MYBPC3c.3294G>A (p.Trp1098Ter)
c.3276G>A (p.Trp1092Ter)
c.3213G>A (p.Trp1071Ter)
 ClinVar dbSNP gnomAD v4
11g.47333231C>ACA013821MYBPC3c.3293G>T (p.Trp1098Leu)
c.3275G>T (p.Trp1092Leu)
c.3212G>T (p.Trp1071Leu)
 ClinVar dbSNP gnomAD v4
11g.47333231C=CA1969335270MYBPC3c.3293G= (p.Trp1098=)
c.3275G= (p.Trp1092=)
c.3212G= (p.Trp1071=)
11g.47333231C>GCA380314128MYBPC3c.3293G>C (p.Trp1098Ser)
c.3275G>C (p.Trp1092Ser)
c.3212G>C (p.Trp1071Ser)
11g.47333231C>TCA013817MYBPC3c.3293G>A (p.Trp1098Ter)
c.3275G>A (p.Trp1092Ter)
c.3212G>A (p.Trp1071Ter)
 ClinVar dbSNP
11g.47333232A>CCA380314131MYBPC3c.3292T>G (p.Trp1098Gly)
c.3274T>G (p.Trp1092Gly)
c.3211T>G (p.Trp1071Gly)
 gnomAD v4
11g.47333232A>GCA380314133MYBPC3c.3292T>C (p.Trp1098Arg)
c.3274T>C (p.Trp1092Arg)
c.3211T>C (p.Trp1071Arg)
 dbSNP gnomAD v4
11g.47333232A>TCA380314134MYBPC3c.3292T>A (p.Trp1098Arg)
c.3274T>A (p.Trp1092Arg)
c.3211T>A (p.Trp1071Arg)
11g.47333233G>ACA474212164MYBPC3c.3291C>T (p.Leu1097=)
c.3273C>T (p.Leu1091=)
c.3210C>T (p.Leu1070=)
 gnomAD v4
11g.47333233G>CCA474212165MYBPC3c.3291C>G (p.Leu1097=)
c.3273C>G (p.Leu1091=)
c.3210C>G (p.Leu1070=)
11g.47333233G>TCA474212163MYBPC3c.3291C>A (p.Leu1097=)
c.3273C>A (p.Leu1091=)
c.3210C>A (p.Leu1070=)
11g.47333234A>CCA380314140MYBPC3c.3290T>G (p.Leu1097Arg)
c.3272T>G (p.Leu1091Arg)
c.3209T>G (p.Leu1070Arg)
11g.47333234A>GCA380314138MYBPC3c.3290T>C (p.Leu1097Pro)
c.3272T>C (p.Leu1091Pro)
c.3209T>C (p.Leu1070Pro)
 ClinVar
11g.47333234A>TCA380314137MYBPC3c.3290T>A (p.Leu1097His)
c.3272T>A (p.Leu1091His)
c.3209T>A (p.Leu1070His)
11g.47333235G>ACA380314142MYBPC3c.3289C>T (p.Leu1097Phe)
c.3271C>T (p.Leu1091Phe)
c.3208C>T (p.Leu1070Phe)
 gnomAD v4
11g.47333235G>CCA380314144MYBPC3c.3289C>G (p.Leu1097Val)
c.3271C>G (p.Leu1091Val)
c.3208C>G (p.Leu1070Val)
11g.47333235G=CA1969335272MYBPC3c.3289C= (p.Leu1097=)
c.3271C= (p.Leu1091=)
c.3208C= (p.Leu1070=)
11g.47333235G>TCA380314145MYBPC3c.3289C>A (p.Leu1097Ile)
c.3271C>A (p.Leu1091Ile)
c.3208C>A (p.Leu1070Ile)
 dbSNP gnomAD v4
11g.47333235_47333236delinsGCCA1969335273MYBPC3c.3288_3289delinsGC (p.Glu1096=)
c.3270_3271delinsGC (p.Glu1090=)
c.3207_3208delinsGC (p.Glu1069=)
11g.47333236delCA013802MYBPC3c.3288del (p.Glu1096AspfsTer?)
c.3270del (p.Glu1090AspfsTer?)
c.3207del (p.Glu1069AspfsTer?)
 ClinVar dbSNP
11g.47333236C>ACA380314147MYBPC3c.3288G>T (p.Glu1096Asp)
c.3270G>T (p.Glu1090Asp)
c.3207G>T (p.Glu1069Asp)
11g.47333236C=CA1630848693MYBPC3c.3288G= (p.Glu1096=)
c.3270G= (p.Glu1090=)
c.3207G= (p.Glu1069=)
11g.47333236C>GCA380314148MYBPC3c.3288G>C (p.Glu1096Asp)
c.3270G>C (p.Glu1090Asp)
c.3207G>C (p.Glu1069Asp)
11g.47333236C>TCA013807MYBPC3c.3288G>A (p.Glu1096=)
c.3270G>A (p.Glu1090=)
c.3207G>A (p.Glu1069=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333237T>ACA380314151MYBPC3c.3287A>T (p.Glu1096Val)
c.3269A>T (p.Glu1090Val)
c.3206A>T (p.Glu1069Val)
 ClinVar gnomAD v4
11g.47333237T>CCA380314153MYBPC3c.3287A>G (p.Glu1096Gly)
c.3269A>G (p.Glu1090Gly)
c.3206A>G (p.Glu1069Gly)
 gnomAD v4
11g.47333237T>GCA380314155MYBPC3c.3287A>C (p.Glu1096Ala)
c.3269A>C (p.Glu1090Ala)
c.3206A>C (p.Glu1069Ala)
 gnomAD v4
11g.47333238C>ACA013793MYBPC3c.3286G>T (p.Glu1096Ter)
c.3268G>T (p.Glu1090Ter)
c.3205G>T (p.Glu1069Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333238C=CA1969335278MYBPC3c.3286G= (p.Glu1096=)
c.3268G= (p.Glu1090=)
c.3205G= (p.Glu1069=)
11g.47333238C>GCA380314158MYBPC3c.3286G>C (p.Glu1096Gln)
c.3268G>C (p.Glu1090Gln)
c.3205G>C (p.Glu1069Gln)
11g.47333238C>TCA079267MYBPC3c.3286G>A (p.Glu1096Lys)
c.3268G>A (p.Glu1090Lys)
c.3205G>A (p.Glu1069Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333239C>ACA474212169MYBPC3c.3285G>T (p.Thr1095=)
c.3267G>T (p.Thr1089=)
c.3204G>T (p.Thr1068=)
 gnomAD v4
11g.47333239C=CA1969335283MYBPC3c.3285G= (p.Thr1095=)
c.3267G= (p.Thr1089=)
c.3204G= (p.Thr1068=)
11g.47333239C>GCA013787MYBPC3c.3285G>C (p.Thr1095=)
c.3267G>C (p.Thr1089=)
c.3204G>C (p.Thr1068=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333239C>TCA013778MYBPC3c.3285G>A (p.Thr1095=)
c.3267G>A (p.Thr1089=)
c.3204G>A (p.Thr1068=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333240G>ACA079262MYBPC3c.3284C>T (p.Thr1095Met)
c.3266C>T (p.Thr1089Met)
c.3203C>T (p.Thr1068Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333240G>CCA380314164MYBPC3c.3284C>G (p.Thr1095Arg)
c.3266C>G (p.Thr1089Arg)
c.3203C>G (p.Thr1068Arg)
11g.47333240G=CA1969335285MYBPC3c.3284C= (p.Thr1095=)
c.3266C= (p.Thr1089=)
c.3203C= (p.Thr1068=)
11g.47333240G>TCA380314163MYBPC3c.3284C>A (p.Thr1095Lys)
c.3266C>A (p.Thr1089Lys)
c.3203C>A (p.Thr1068Lys)
 gnomAD v4
11g.47333241T>ACA380314167MYBPC3c.3283A>T (p.Thr1095Ser)
c.3265A>T (p.Thr1089Ser)
c.3202A>T (p.Thr1068Ser)
11g.47333241T>CCA380314170MYBPC3c.3283A>G (p.Thr1095Ala)
c.3265A>G (p.Thr1089Ala)
c.3202A>G (p.Thr1068Ala)
11g.47333241T>GCA380314169MYBPC3c.3283A>C (p.Thr1095Pro)
c.3265A>C (p.Thr1089Pro)
c.3202A>C (p.Thr1068Pro)
11g.47333242G>ACA474212170MYBPC3c.3282C>T (p.Asn1094=)
c.3264C>T (p.Asn1088=)
c.3201C>T (p.Asn1067=)
 dbSNP gnomAD v4
11g.47333242G>CCA380314172MYBPC3c.3282C>G (p.Asn1094Lys)
c.3264C>G (p.Asn1088Lys)
c.3201C>G (p.Asn1067Lys)
11g.47333242G=CA1969335287MYBPC3c.3282C= (p.Asn1094=)
c.3264C= (p.Asn1088=)
c.3201C= (p.Asn1067=)
11g.47333242G>TCA380314175MYBPC3c.3282C>A (p.Asn1094Lys)
c.3264C>A (p.Asn1088Lys)
c.3201C>A (p.Asn1067Lys)
11g.47333243T>ACA013770MYBPC3c.3281A>T (p.Asn1094Ile)
c.3263A>T (p.Asn1088Ile)
c.3200A>T (p.Asn1067Ile)
 ClinVar dbSNP
11g.47333243T>CCA380314178MYBPC3c.3281A>G (p.Asn1094Ser)
c.3263A>G (p.Asn1088Ser)
c.3200A>G (p.Asn1067Ser)
11g.47333243T>GCA380314180MYBPC3c.3281A>C (p.Asn1094Thr)
c.3263A>C (p.Asn1088Thr)
c.3200A>C (p.Asn1067Thr)
11g.47333243T=CA1969335289MYBPC3c.3281A= (p.Asn1094=)
c.3263A= (p.Asn1088=)
c.3200A= (p.Asn1067=)
11g.47333244T>ACA380314182MYBPC3c.3280A>T (p.Asn1094Tyr)
c.3262A>T (p.Asn1088Tyr)
c.3199A>T (p.Asn1067Tyr)
11g.47333244T>CCA380314184MYBPC3c.3280A>G (p.Asn1094Asp)
c.3262A>G (p.Asn1088Asp)
c.3199A>G (p.Asn1067Asp)
11g.47333244T>GCA380314186MYBPC3c.3280A>C (p.Asn1094His)
c.3262A>C (p.Asn1088His)
c.3199A>C (p.Asn1067His)
 gnomAD v4
11g.47333244_47333251delinsGTGTACCCCCAGAGTCA2580084224MYBPC3c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091GlufsTer?)
c.3255_3262delinsACTCTGGGGGTACAC (p.Asp1085GlufsTer?)
c.3192_3199delinsACTCTGGGGGTACAC (p.Asp1064GlufsTer?)
 ClinVar
11g.47333244_47333256delCA2791330963MYBPC3c.3268_3280del (p.Gln1090ThrfsTer?)
c.3250_3262del (p.Gln1084ThrfsTer?)
c.3187_3199del (p.Gln1063ThrfsTer?)
11g.47333245G>ACA013761MYBPC3c.3279C>T (p.Gly1093=)
c.3261C>T (p.Gly1087=)
c.3198C>T (p.Gly1066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333245G>CCA474212174MYBPC3c.3279C>G (p.Gly1093=)
c.3261C>G (p.Gly1087=)
c.3198C>G (p.Gly1066=)
11g.47333245G=CA1969335292MYBPC3c.3279C= (p.Gly1093=)
c.3261C= (p.Gly1087=)
c.3198C= (p.Gly1066=)
11g.47333245G>TCA474212175MYBPC3c.3279C>A (p.Gly1093=)
c.3261C>A (p.Gly1087=)
c.3198C>A (p.Gly1066=)
 gnomAD v4
11g.47333246C>ACA380314190MYBPC3c.3278G>T (p.Gly1093Val)
c.3260G>T (p.Gly1087Val)
c.3197G>T (p.Gly1066Val)
 dbSNP gnomAD v2 gnomAD v4
11g.47333246C=CA1969335295MYBPC3c.3278G= (p.Gly1093=)
c.3260G= (p.Gly1087=)
c.3197G= (p.Gly1066=)
11g.47333246C>GCA380314192MYBPC3c.3278G>C (p.Gly1093Ala)
c.3260G>C (p.Gly1087Ala)
c.3197G>C (p.Gly1066Ala)
 gnomAD v4
11g.47333246C>TCA380314194MYBPC3c.3278G>A (p.Gly1093Asp)
c.3260G>A (p.Gly1087Asp)
c.3197G>A (p.Gly1066Asp)
 gnomAD v4

Number of alleles fetched