Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47337795_47338523dupCA916081643MYBPC3c.2306_2309dup
c.2288_2291dup
c.2225_2228dup
11g.47338460A>TCA2613393253MYBPC3c.2308+60T>A (n.2308+60T>A)
c.2290+60T>A (n.2290+60T>A)
c.2227+60T>A (n.2227+60T>A)
gnomAD v4
11g.47338462G>TCA2613393255MYBPC3c.2308+58C>A (n.2308+58C>A)
c.2290+58C>A (n.2290+58C>A)
c.2227+58C>A (n.2227+58C>A)
gnomAD v4
11g.47338464delCA2613393254MYBPC3c.2308+58del (n.2308+58del)
c.2290+58del (n.2290+58del)
c.2227+58del (n.2227+58del)
gnomAD v4
11g.47338463G>TCA2613393256MYBPC3c.2308+57C>A (n.2308+57C>A)
c.2290+57C>A (n.2290+57C>A)
c.2227+57C>A (n.2227+57C>A)
gnomAD v4
11g.47338464G>ACA2574816069MYBPC3c.2308+56C>T (n.2308+56C>T)
c.2290+56C>T (n.2290+56C>T)
c.2227+56C>T (n.2227+56C>T)
11g.47338464G=CA1969332068MYBPC3c.2308+56C= (n.2308+56C=)
c.2290+56C= (n.2290+56C=)
c.2227+56C= (n.2227+56C=)
11g.47338465C>ACA2613393259MYBPC3c.2308+55G>T (n.2308+55G>T)
c.2290+55G>T (n.2290+55G>T)
c.2227+55G>T (n.2227+55G>T)
gnomAD v4
11g.47338465C>GCA2613393261MYBPC3c.2308+55G>C (n.2308+55G>C)
c.2290+55G>C (n.2290+55G>C)
c.2227+55G>C (n.2227+55G>C)
gnomAD v4
11g.47338467dupCA676995979MYBPC3c.2308+55dup (n.2308+55dup)
c.2290+55dup (n.2290+55dup)
c.2227+55dup (n.2227+55dup)
dbSNP gnomAD v3 gnomAD v4
11g.47338467C>GCA2724175164MYBPC3c.2308+53G>C (n.2308+53G>C)
c.2290+53G>C (n.2290+53G>C)
c.2227+53G>C (n.2227+53G>C)
dbSNP
11g.47338469C>TCA2613393262MYBPC3c.2308+51G>A (n.2308+51G>A)
c.2290+51G>A (n.2290+51G>A)
c.2227+51G>A (n.2227+51G>A)
gnomAD v4
11g.47338469_47338470insAGCCACA2613393266MYBPC3c.2308+50_2308+51insTGGCT (n.2308+50_2308+51insTGGCT)
c.2290+50_2290+51insTGGCT (n.2290+50_2290+51insTGGCT)
c.2227+50_2227+51insTGGCT (n.2227+50_2227+51insTGGCT)
gnomAD v4
11g.47338470C=CA1969332070MYBPC3c.2308+50G= (n.2308+50G=)
c.2290+50G= (n.2290+50G=)
c.2227+50G= (n.2227+50G=)
11g.47338470C>TCA1969332072MYBPC3c.2308+50G>A (n.2308+50G>A)
c.2290+50G>A (n.2290+50G>A)
c.2227+50G>A (n.2227+50G>A)
dbSNP gnomAD v4
11g.47338471T>ACA1969332075MYBPC3c.2308+49A>T (n.2308+49A>T)
c.2290+49A>T (n.2290+49A>T)
c.2227+49A>T (n.2227+49A>T)
dbSNP
11g.47338471T=CA1969332074MYBPC3c.2308+49A= (n.2308+49A=)
c.2290+49A= (n.2290+49A=)
c.2227+49A= (n.2227+49A=)
11g.47338473G>TCA2574816072MYBPC3c.2308+47C>A (n.2308+47C>A)
c.2290+47C>A (n.2290+47C>A)
c.2227+47C>A (n.2227+47C>A)
11g.47338476delCA2574816070MYBPC3c.2308+47del (n.2308+47del)
c.2290+47del (n.2290+47del)
c.2227+47del (n.2227+47del)
11g.47338474G=CA1969332077MYBPC3c.2308+46C= (n.2308+46C=)
c.2290+46C= (n.2290+46C=)
c.2227+46C= (n.2227+46C=)
11g.47338474G>TCA599374345MYBPC3c.2308+46C>A (n.2308+46C>A)
c.2290+46C>A (n.2290+46C>A)
c.2227+46C>A (n.2227+46C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338475G>CCA1969332079MYBPC3c.2308+45C>G (n.2308+45C>G)
c.2290+45C>G (n.2290+45C>G)
c.2227+45C>G (n.2227+45C>G)
dbSNP gnomAD v4
11g.47338475G=CA1969332078MYBPC3c.2308+45C= (n.2308+45C=)
c.2290+45C= (n.2290+45C=)
c.2227+45C= (n.2227+45C=)
11g.47338475G>TCA2574816073MYBPC3c.2308+45C>A (n.2308+45C>A)
c.2290+45C>A (n.2290+45C>A)
c.2227+45C>A (n.2227+45C>A)
11g.47338476G>ACA2613393270MYBPC3c.2308+44C>T (n.2308+44C>T)
c.2290+44C>T (n.2290+44C>T)
c.2227+44C>T (n.2227+44C>T)
gnomAD v4
11g.47338477delCA2613393271MYBPC3c.2308+43del (n.2308+43del)
c.2290+43del (n.2290+43del)
c.2227+43del (n.2227+43del)
gnomAD v4
11g.47338478T>CCA2569458293MYBPC3c.2308+42A>G (n.2308+42A>G)
c.2290+42A>G (n.2290+42A>G)
c.2227+42A>G (n.2227+42A>G)
11g.47338479G>ACA2613393278MYBPC3c.2308+41C>T (n.2308+41C>T)
c.2290+41C>T (n.2290+41C>T)
c.2227+41C>T (n.2227+41C>T)
gnomAD v4
11g.47338479G=CA1969332081MYBPC3c.2308+41C= (n.2308+41C=)
c.2290+41C= (n.2290+41C=)
c.2227+41C= (n.2227+41C=)
11g.47338479G>TCA599374346MYBPC3c.2308+41C>A (n.2308+41C>A)
c.2290+41C>A (n.2290+41C>A)
c.2227+41C>A (n.2227+41C>A)
dbSNP gnomAD v2 gnomAD v4
11g.47338479dupCA2613393277MYBPC3c.2308+41dup (n.2308+41dup)
c.2290+41dup (n.2290+41dup)
c.2227+41dup (n.2227+41dup)
gnomAD v4
11g.47338481C=CA1969332083MYBPC3c.2308+39G= (n.2308+39G=)
c.2290+39G= (n.2290+39G=)
c.2227+39G= (n.2227+39G=)
11g.47338481C>TCA078639MYBPC3c.2308+39G>A (n.2308+39G>A)
c.2290+39G>A (n.2290+39G>A)
c.2227+39G>A (n.2227+39G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338483C=CA1969332085MYBPC3c.2308+37G= (n.2308+37G=)
c.2290+37G= (n.2290+37G=)
c.2227+37G= (n.2227+37G=)
11g.47338483C>GCA078638MYBPC3c.2308+37G>C (n.2308+37G>C)
c.2290+37G>C (n.2290+37G>C)
c.2227+37G>C (n.2227+37G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338483C>TCA599374347MYBPC3c.2308+37G>A (n.2308+37G>A)
c.2290+37G>A (n.2290+37G>A)
c.2227+37G>A (n.2227+37G>A)
dbSNP gnomAD v2 gnomAD v4
11g.47338484T>CCA2613393291MYBPC3c.2308+36A>G (n.2308+36A>G)
c.2290+36A>G (n.2290+36A>G)
c.2227+36A>G (n.2227+36A>G)
gnomAD v4
11g.47338485C>ACA221689678MYBPC3c.2308+35G>T (n.2308+35G>T)
c.2290+35G>T (n.2290+35G>T)
c.2227+35G>T (n.2227+35G>T)
dbSNP
11g.47338485C=CA1969332087MYBPC3c.2308+35G= (n.2308+35G=)
c.2290+35G= (n.2290+35G=)
c.2227+35G= (n.2227+35G=)
11g.47338485C>TCA2613393293MYBPC3c.2308+35G>A (n.2308+35G>A)
c.2290+35G>A (n.2290+35G>A)
c.2227+35G>A (n.2227+35G>A)
gnomAD v4
11g.47338486T>CCA2613393295MYBPC3c.2308+34A>G (n.2308+34A>G)
c.2290+34A>G (n.2290+34A>G)
c.2227+34A>G (n.2227+34A>G)
gnomAD v4
11g.47338489_47338490delCA2791323006MYBPC3c.2308+33_2308+34del (n.2308+33_2308+34del)
c.2290+33_2290+34del (n.2290+33_2290+34del)
c.2227+33_2227+34del (n.2227+33_2227+34del)
11g.47338490T>CCA2613393297MYBPC3c.2308+30A>G (n.2308+30A>G)
c.2290+30A>G (n.2290+30A>G)
c.2227+30A>G (n.2227+30A>G)
gnomAD v4
11g.47338492C>TCA2613393298MYBPC3c.2308+28G>A (n.2308+28G>A)
c.2290+28G>A (n.2290+28G>A)
c.2227+28G>A (n.2227+28G>A)
gnomAD v4
11g.47338493T>GCA1969332089MYBPC3c.2308+27A>C (n.2308+27A>C)
c.2290+27A>C (n.2290+27A>C)
c.2227+27A>C (n.2227+27A>C)
dbSNP
11g.47338493T=CA1969332088MYBPC3c.2308+27A= (n.2308+27A=)
c.2290+27A= (n.2290+27A=)
c.2227+27A= (n.2227+27A=)
11g.47338494C>ACA078636MYBPC3c.2308+26G>T (n.2308+26G>T)
c.2290+26G>T (n.2290+26G>T)
c.2227+26G>T (n.2227+26G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338494C=CA1969332090MYBPC3c.2308+26G= (n.2308+26G=)
c.2290+26G= (n.2290+26G=)
c.2227+26G= (n.2227+26G=)
11g.47338496A=CA1969332092MYBPC3c.2308+24T= (n.2308+24T=)
c.2290+24T= (n.2290+24T=)
c.2227+24T= (n.2227+24T=)
11g.47338496A>GCA1969332093MYBPC3c.2308+24T>C (n.2308+24T>C)
c.2290+24T>C (n.2290+24T>C)
c.2227+24T>C (n.2227+24T>C)
dbSNP
11g.47338497G>ACA937669379MYBPC3c.2308+23C>T (n.2308+23C>T)
c.2290+23C>T (n.2290+23C>T)
c.2227+23C>T (n.2227+23C>T)
dbSNP gnomAD v3 gnomAD v4
11g.47338497G=CA1969332094MYBPC3c.2308+23C= (n.2308+23C=)
c.2290+23C= (n.2290+23C=)
c.2227+23C= (n.2227+23C=)
11g.47338497G>TCA2791323007MYBPC3c.2308+23C>A (n.2308+23C>A)
c.2290+23C>A (n.2290+23C>A)
c.2227+23C>A (n.2227+23C>A)
11g.47338502_47338530delCA2580084155MYBPC3c.2302_2308+22del
c.2284_2290+22del
c.2221_2227+22del
ClinVar
11g.47338499T>CCA2613393304MYBPC3c.2308+21A>G (n.2308+21A>G)
c.2290+21A>G (n.2290+21A>G)
c.2227+21A>G (n.2227+21A>G)
gnomAD v4
11g.47338500T>CCA078634MYBPC3c.2308+20A>G (n.2308+20A>G)
c.2290+20A>G (n.2290+20A>G)
c.2227+20A>G (n.2227+20A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338500T=CA1969332095MYBPC3c.2308+20A= (n.2308+20A=)
c.2290+20A= (n.2290+20A=)
c.2227+20A= (n.2227+20A=)
11g.47338501G>TCA2574816074MYBPC3c.2308+19C>A (n.2308+19C>A)
c.2290+19C>A (n.2290+19C>A)
c.2227+19C>A (n.2227+19C>A)
11g.47338502G>ACA474216949MYBPC3c.2308+18C>T (n.2308+18C>T)
c.2290+18C>T (n.2290+18C>T)
c.2227+18C>T (n.2227+18C>T)
11g.47338502G>CCA011991MYBPC3c.2308+18C>G (n.2308+18C>G)
c.2290+18C>G (n.2290+18C>G)
c.2227+18C>G (n.2227+18C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338502G=CA1969332098MYBPC3c.2308+18C= (n.2308+18C=)
c.2290+18C= (n.2290+18C=)
c.2227+18C= (n.2227+18C=)
11g.47338502G>TCA2581005432MYBPC3c.2308+18C>A (n.2308+18C>A)
c.2290+18C>A (n.2290+18C>A)
c.2227+18C>A (n.2227+18C>A)
11g.47338503A=CA1969332104MYBPC3c.2308+17T= (n.2308+17T=)
c.2290+17T= (n.2290+17T=)
c.2227+17T= (n.2227+17T=)
11g.47338503A>CCA049175MYBPC3c.2308+17T>G (n.2308+17T>G)
c.2290+17T>G (n.2290+17T>G)
c.2227+17T>G (n.2227+17T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338504C>ACA078630MYBPC3c.2308+16G>T (n.2308+16G>T)
c.2290+16G>T (n.2290+16G>T)
c.2227+16G>T (n.2227+16G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338504C=CA1969332106MYBPC3c.2308+16G= (n.2308+16G=)
c.2290+16G= (n.2290+16G=)
c.2227+16G= (n.2227+16G=)
11g.47338504C>TCA078629MYBPC3c.2308+16G>A (n.2308+16G>A)
c.2290+16G>A (n.2290+16G>A)
c.2227+16G>A (n.2227+16G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338505C=CA1969332109MYBPC3c.2308+15G= (n.2308+15G=)
c.2290+15G= (n.2290+15G=)
c.2227+15G= (n.2227+15G=)
11g.47338505C>GCA2580084157MYBPC3c.2308+15G>C (n.2308+15G>C)
c.2290+15G>C (n.2290+15G>C)
c.2227+15G>C (n.2227+15G>C)
ClinVar
11g.47338505C>TCA937669393MYBPC3c.2308+15G>A (n.2308+15G>A)
c.2290+15G>A (n.2290+15G>A)
c.2227+15G>A (n.2227+15G>A)
dbSNP gnomAD v3 gnomAD v4
11g.47338506C=CA1969332111MYBPC3c.2308+14G= (n.2308+14G=)
c.2290+14G= (n.2290+14G=)
c.2227+14G= (n.2227+14G=)
11g.47338506C>TCA1969332113MYBPC3c.2308+14G>A (n.2308+14G>A)
c.2290+14G>A (n.2290+14G>A)
c.2227+14G>A (n.2227+14G>A)
dbSNP
11g.47338507C>ACA049144MYBPC3c.2308+13G>T (n.2308+13G>T)
c.2290+13G>T (n.2290+13G>T)
c.2227+13G>T (n.2227+13G>T)
11g.47338507C=CA1969332117MYBPC3c.2308+13G= (n.2308+13G=)
c.2290+13G= (n.2290+13G=)
c.2227+13G= (n.2227+13G=)
11g.47338507C>TCA049138MYBPC3c.2308+13G>A (n.2308+13G>A)
c.2290+13G>A (n.2290+13G>A)
c.2227+13G>A (n.2227+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338508G>ACA011984MYBPC3c.2308+12C>T (n.2308+12C>T)
c.2290+12C>T (n.2290+12C>T)
c.2227+12C>T (n.2227+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338508G>CCA2613393350MYBPC3c.2308+12C>G (n.2308+12C>G)
c.2290+12C>G (n.2290+12C>G)
c.2227+12C>G (n.2227+12C>G)
gnomAD v4
11g.47338508G=CA1969332130MYBPC3c.2308+12C= (n.2308+12C=)
c.2290+12C= (n.2290+12C=)
c.2227+12C= (n.2227+12C=)
11g.47338509dupCA5975366MYBPC3c.2308+12dup (n.2308+12dup)
c.2290+12dup (n.2290+12dup)
c.2227+12dup (n.2227+12dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338509G>ACA2613393353MYBPC3c.2308+11C>T (n.2308+11C>T)
c.2290+11C>T (n.2290+11C>T)
c.2227+11C>T (n.2227+11C>T)
gnomAD v4
11g.47338510C>TCA049125MYBPC3c.2308+10G>A (n.2308+10G>A)
c.2290+10G>A (n.2290+10G>A)
c.2227+10G>A (n.2227+10G>A)
gnomAD v4
11g.47338511C=CA1969332133MYBPC3c.2308+9G= (n.2308+9G=)
c.2290+9G= (n.2290+9G=)
c.2227+9G= (n.2227+9G=)
11g.47338511C>TCA078644MYBPC3c.2308+9G>A (n.2308+9G>A)
c.2290+9G>A (n.2290+9G>A)
c.2227+9G>A (n.2227+9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338512G>ACA078643MYBPC3c.2308+8C>T (n.2308+8C>T)
c.2290+8C>T (n.2290+8C>T)
c.2227+8C>T (n.2227+8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338512G>CCA2574816082MYBPC3c.2308+8C>G (n.2308+8C>G)
c.2290+8C>G (n.2290+8C>G)
c.2227+8C>G (n.2227+8C>G)
gnomAD v4
11g.47338512G=CA1969332138MYBPC3c.2308+8C= (n.2308+8C=)
c.2290+8C= (n.2290+8C=)
c.2227+8C= (n.2227+8C=)
11g.47338514C=CA1969332142MYBPC3c.2308+6G= (n.2308+6G=)
c.2290+6G= (n.2290+6G=)
c.2227+6G= (n.2227+6G=)
11g.47338514C>GCA2613393373MYBPC3c.2308+6G>C (n.2308+6G>C)
c.2290+6G>C (n.2290+6G>C)
c.2227+6G>C (n.2227+6G>C)
gnomAD v4
11g.47338514C>TCA049236MYBPC3c.2308+6G>A (n.2308+6G>A)
c.2290+6G>A (n.2290+6G>A)
c.2227+6G>A (n.2227+6G>A)
dbSNP gnomAD v2 gnomAD v4
11g.47338515C>TCA2695212764MYBPC3c.2308+5G>A (n.2308+5G>A)
c.2290+5G>A (n.2290+5G>A)
c.2227+5G>A (n.2227+5G>A)
11g.47338516_47338537delinsTCACCGATGACCTTGACTGTGACA1969332144MYBPC3c.2291_2308+4delinsTCACAGTCAAGGTCATCGGTGA
c.2273_2290+4delinsTCACAGTCAAGGTCATCGGTGA
c.2210_2227+4delinsTCACAGTCAAGGTCATCGGTGA
11g.47338517C=CA1969332151MYBPC3c.2308+3G= (n.2308+3G=)
c.2290+3G= (n.2290+3G=)
c.2227+3G= (n.2227+3G=)
11g.47338517C>GCA2695212765MYBPC3c.2308+3G>C (n.2308+3G>C)
c.2290+3G>C (n.2290+3G>C)
c.2227+3G>C (n.2227+3G>C)
11g.47338517C>TCA078641MYBPC3c.2308+3G>A (n.2308+3G>A)
c.2290+3G>A (n.2290+3G>A)
c.2227+3G>A (n.2227+3G>A)
dbSNP ExAC gnomAD v2
11g.47338517_47338524delinsCACCGATGCA1969332157MYBPC3c.2304_2308+3delinsCATCGGTG
c.2286_2290+3delinsCATCGGTG
c.2223_2227+3delinsCATCGGTG
11g.47338517_47338537delCA1969332149MYBPC3c.2291_2308+3del
c.2273_2290+3del
c.2210_2227+3del
ClinVar dbSNP
11g.47338518A=CA1969332165MYBPC3c.2308+2T= (n.2308+2T=)
c.2290+2T= (n.2290+2T=)
c.2227+2T= (n.2227+2T=)
11g.47338518A>CCA380320134MYBPC3c.2308+2T>G (n.2308+2T>G)
c.2290+2T>G (n.2290+2T>G)
c.2227+2T>G (n.2227+2T>G)
11g.47338518A>GCA221689780MYBPC3c.2308+2T>C (n.2308+2T>C)
c.2290+2T>C (n.2290+2T>C)
c.2227+2T>C (n.2227+2T>C)
dbSNP
11g.47338518A>TCA221689787MYBPC3c.2308+2T>A (n.2308+2T>A)
c.2290+2T>A (n.2290+2T>A)
c.2227+2T>A (n.2227+2T>A)
dbSNP
11g.47338521_47338527delCA676996046MYBPC3c.2304_2308+2del
c.2286_2290+2del
c.2223_2227+2del
dbSNP gnomAD v4
11g.47338519C>ACA012008MYBPC3c.2308+1G>T (n.2308+1G>T)
c.2290+1G>T (n.2290+1G>T)
c.2227+1G>T (n.2227+1G>T)
ClinVar dbSNP gnomAD v4
11g.47338519C=CA1969332171MYBPC3c.2308+1G= (n.2308+1G=)
c.2290+1G= (n.2290+1G=)
c.2227+1G= (n.2227+1G=)
11g.47338519C>GCA221689791MYBPC3c.2308+1G>C (n.2308+1G>C)
c.2290+1G>C (n.2290+1G>C)
c.2227+1G>C (n.2227+1G>C)
dbSNP
11g.47338519C>TCA011996MYBPC3c.2308+1G>A (n.2308+1G>A)
c.2290+1G>A (n.2290+1G>A)
c.2227+1G>A (n.2227+1G>A)
ClinVar dbSNP
11g.47338520C>ACA380320135MYBPC3c.2308G>T (p.Asp770Tyr)
c.2290G>T (p.Asp764Tyr)
c.2227G>T (p.Asp743Tyr)
11g.47338520C=CA1969332182MYBPC3c.2308G= (p.Asp770=)
c.2290G= (p.Asp764=)
c.2227G= (p.Asp743=)
11g.47338520C>GCA16613585MYBPC3c.2308G>C (p.Asp770His)
c.2290G>C (p.Asp764His)
c.2227G>C (p.Asp743His)
ClinVar dbSNP
11g.47338520C>TCA012015MYBPC3c.2308G>A (p.Asp770Asn)
c.2290G>A (p.Asp764Asn)
c.2227G>A (p.Asp743Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338520_47338523dupCA891842474MYBPC3c.2305_2308dup (p.Val771ArgfsTer?)
c.2287_2290dup (p.Val765ArgfsTer?)
c.2224_2227dup (p.Val744ArgfsTer?)
ClinVar dbSNP
11g.47338521G>ACA078624MYBPC3c.2307C>T (p.Ile769=)
c.2289C>T (p.Ile763=)
c.2226C>T (p.Ile742=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338521G>CCA380320136MYBPC3c.2307C>G (p.Ile769Met)
c.2289C>G (p.Ile763Met)
c.2226C>G (p.Ile742Met)
11g.47338521G=CA1969332187MYBPC3c.2307C= (p.Ile769=)
c.2289C= (p.Ile763=)
c.2226C= (p.Ile742=)
11g.47338521G>TCA474216951MYBPC3c.2307C>A (p.Ile769=)
c.2289C>A (p.Ile763=)
c.2226C>A (p.Ile742=)
gnomAD v4
11g.47338522delCA2573131739MYBPC3c.2306del (p.Ile769ThrfsTer?)
c.2288del (p.Ile763ThrfsTer?)
c.2225del (p.Ile742ThrfsTer?)
11g.47338522A>CCA380320137MYBPC3c.2306T>G (p.Ile769Ser)
c.2288T>G (p.Ile763Ser)
c.2225T>G (p.Ile742Ser)
11g.47338522A>GCA380320138MYBPC3c.2306T>C (p.Ile769Thr)
c.2288T>C (p.Ile763Thr)
c.2225T>C (p.Ile742Thr)
11g.47338522A>TCA380320139MYBPC3c.2306T>A (p.Ile769Asn)
c.2288T>A (p.Ile763Asn)
c.2225T>A (p.Ile742Asn)
11g.47338523T>ACA380320140MYBPC3c.2305A>T (p.Ile769Phe)
c.2287A>T (p.Ile763Phe)
c.2224A>T (p.Ile742Phe)
11g.47338523T>CCA380320141MYBPC3c.2305A>G (p.Ile769Val)
c.2287A>G (p.Ile763Val)
c.2224A>G (p.Ile742Val)
11g.47338523T>GCA380320142MYBPC3c.2305A>C (p.Ile769Leu)
c.2287A>C (p.Ile763Leu)
c.2224A>C (p.Ile742Leu)
11g.47338524G>ACA049095MYBPC3c.2304C>T (p.Val768=)
c.2286C>T (p.Val762=)
c.2223C>T (p.Val741=)
dbSNP gnomAD v2 gnomAD v4
11g.47338524G>CCA474216953MYBPC3c.2304C>G (p.Val768=)
c.2286C>G (p.Val762=)
c.2223C>G (p.Val741=)
11g.47338524G=CA1969332190MYBPC3c.2304C= (p.Val768=)
c.2286C= (p.Val762=)
c.2223C= (p.Val741=)
11g.47338524G>TCA474216954MYBPC3c.2304C>A (p.Val768=)
c.2286C>A (p.Val762=)
c.2223C>A (p.Val741=)
11g.47338525A>CCA380320143MYBPC3c.2303T>G (p.Val768Gly)
c.2285T>G (p.Val762Gly)
c.2222T>G (p.Val741Gly)
11g.47338525A>GCA380320144MYBPC3c.2303T>C (p.Val768Ala)
c.2285T>C (p.Val762Ala)
c.2222T>C (p.Val741Ala)
11g.47338525A>TCA380320145MYBPC3c.2303T>A (p.Val768Asp)
c.2285T>A (p.Val762Asp)
c.2222T>A (p.Val741Asp)
11g.47338526C>ACA380320146MYBPC3c.2302G>T (p.Val768Phe)
c.2284G>T (p.Val762Phe)
c.2221G>T (p.Val741Phe)
11g.47338526C>GCA380320148MYBPC3c.2302G>C (p.Val768Leu)
c.2284G>C (p.Val762Leu)
c.2221G>C (p.Val741Leu)
11g.47338526C>TCA380320147MYBPC3c.2302G>A (p.Val768Ile)
c.2284G>A (p.Val762Ile)
c.2221G>A (p.Val741Ile)
11g.47338527C>ACA380320149MYBPC3c.2301G>T (p.Lys767Asn)
c.2283G>T (p.Lys761Asn)
c.2220G>T (p.Lys740Asn)
11g.47338527C=CA1969332193MYBPC3c.2301G= (p.Lys767=)
c.2283G= (p.Lys761=)
c.2220G= (p.Lys740=)
11g.47338527C>GCA380320150MYBPC3c.2301G>C (p.Lys767Asn)
c.2283G>C (p.Lys761Asn)
c.2220G>C (p.Lys740Asn)
dbSNP gnomAD v3 gnomAD v4
11g.47338527C>TCA474216957MYBPC3c.2301G>A (p.Lys767=)
c.2283G>A (p.Lys761=)
c.2220G>A (p.Lys740=)
11g.47338528T>ACA380320151MYBPC3c.2300A>T (p.Lys767Met)
c.2282A>T (p.Lys761Met)
c.2219A>T (p.Lys740Met)
11g.47338528T>CCA078622MYBPC3c.2300A>G (p.Lys767Arg)
c.2282A>G (p.Lys761Arg)
c.2219A>G (p.Lys740Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338528T>GCA380320152MYBPC3c.2300A>C (p.Lys767Thr)
c.2282A>C (p.Lys761Thr)
c.2219A>C (p.Lys740Thr)
11g.47338528T=CA1969332199MYBPC3c.2300A= (p.Lys767=)
c.2282A= (p.Lys761=)
c.2219A= (p.Lys740=)
11g.47338529T>ACA380320153MYBPC3c.2299A>T (p.Lys767Ter)
c.2281A>T (p.Lys761Ter)
c.2218A>T (p.Lys740Ter)
11g.47338529T>CCA380320154MYBPC3c.2299A>G (p.Lys767Glu)
c.2281A>G (p.Lys761Glu)
c.2218A>G (p.Lys740Glu)
gnomAD v4
11g.47338529T>GCA380320155MYBPC3c.2299A>C (p.Lys767Gln)
c.2281A>C (p.Lys761Gln)
c.2218A>C (p.Lys740Gln)
11g.47338530G>ACA474216958MYBPC3c.2298C>T (p.Val766=)
c.2280C>T (p.Val760=)
c.2217C>T (p.Val739=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47338530G>CCA474216959MYBPC3c.2298C>G (p.Val766=)
c.2280C>G (p.Val760=)
c.2217C>G (p.Val739=)
dbSNP
11g.47338530G=CA1969332205MYBPC3c.2298C= (p.Val766=)
c.2280C= (p.Val760=)
c.2217C= (p.Val739=)
11g.47338530G>TCA474216960MYBPC3c.2298C>A (p.Val766=)
c.2280C>A (p.Val760=)
c.2217C>A (p.Val739=)
11g.47338531A>CCA380320156MYBPC3c.2297T>G (p.Val766Gly)
c.2279T>G (p.Val760Gly)
c.2216T>G (p.Val739Gly)
11g.47338531A>GCA380320157MYBPC3c.2297T>C (p.Val766Ala)
c.2279T>C (p.Val760Ala)
c.2216T>C (p.Val739Ala)
11g.47338531A>TCA380320158MYBPC3c.2297T>A (p.Val766Asp)
c.2279T>A (p.Val760Asp)
c.2216T>A (p.Val739Asp)
11g.47338532C>ACA380320159MYBPC3c.2296G>T (p.Val766Phe)
c.2278G>T (p.Val760Phe)
c.2215G>T (p.Val739Phe)
11g.47338532C=CA1969332208MYBPC3c.2296G= (p.Val766=)
c.2278G= (p.Val760=)
c.2215G= (p.Val739=)
11g.47338532C>GCA380320160MYBPC3c.2296G>C (p.Val766Leu)
c.2278G>C (p.Val760Leu)
c.2215G>C (p.Val739Leu)
11g.47338532C>TCA380320161MYBPC3c.2296G>A (p.Val766Ile)
c.2278G>A (p.Val760Ile)
c.2215G>A (p.Val739Ile)
dbSNP
11g.47338532_47338533insCGAATACA2503907703MYBPC3c.2295_2296insTATTCG (p.Thr765_Val766insTyrSer)
c.2277_2278insTATTCG (p.Thr759_Val760insTyrSer)
c.2214_2215insTATTCG (p.Thr738_Val739insTyrSer)
11g.47338533T>ACA078619MYBPC3c.2295A>T (p.Thr765=)
c.2277A>T (p.Thr759=)
c.2214A>T (p.Thr738=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338533T>CCA474216961MYBPC3c.2295A>G (p.Thr765=)
c.2277A>G (p.Thr759=)
c.2214A>G (p.Thr738=)
11g.47338533T>GCA474216962MYBPC3c.2295A>C (p.Thr765=)
c.2277A>C (p.Thr759=)
c.2214A>C (p.Thr738=)
11g.47338533T=CA1969332212MYBPC3c.2295A= (p.Thr765=)
c.2277A= (p.Thr759=)
c.2214A= (p.Thr738=)
11g.47338535_47338536delCA2580615673MYBPC3c.2294_2295del (p.Thr765SerfsTer?)
c.2276_2277del (p.Thr759SerfsTer?)
c.2213_2214del (p.Thr738SerfsTer?)
ClinVar dbSNP
11g.47338534G>ACA380320162MYBPC3c.2294C>T (p.Thr765Ile)
c.2276C>T (p.Thr759Ile)
c.2213C>T (p.Thr738Ile)
dbSNP
11g.47338534G>CCA380320163MYBPC3c.2294C>G (p.Thr765Arg)
c.2276C>G (p.Thr759Arg)
c.2213C>G (p.Thr738Arg)
11g.47338534G=CA1969332213MYBPC3c.2294C= (p.Thr765=)
c.2276C= (p.Thr759=)
c.2213C= (p.Thr738=)
11g.47338534G>TCA380320164MYBPC3c.2294C>A (p.Thr765Lys)
c.2276C>A (p.Thr759Lys)
c.2213C>A (p.Thr738Lys)
11g.47338534_47338535insCGATCA2564468281MYBPC3c.2293_2294insATCG (p.Thr765AsnfsTer?)
c.2275_2276insATCG (p.Thr759AsnfsTer?)
c.2212_2213insATCG (p.Thr738AsnfsTer?)
11g.47338534_47338535insAATATGCGATAGCCAGGAATACGCCGCTCGCAAATGCCATGGTTAGATCGCCCGCTGACTGTGTCAACTTAGCCATCACCATCATCGCAGCCATGATTAGCATGGTCGCGATGGTGCCATTTCA2503405296MYBPC3c.2293_2294insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr765LysfsTer9)
c.2275_2276insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr759LysfsTer9)
c.2212_2213insAAATGGCACCATCGCGACCATGCTAATCATGGCTGCGATGATGGTGATGGCTAAGTTGACACAGTCAGCGGGCGATCTAACCATGGCATTTGCGAGCGGCGTATTCCTGGCTATCGCATATT (p.Thr738LysfsTer9)
11g.47338535T>ACA380320165MYBPC3c.2293A>T (p.Thr765Ser)
c.2275A>T (p.Thr759Ser)
c.2212A>T (p.Thr738Ser)
11g.47338535T>CCA380320166MYBPC3c.2293A>G (p.Thr765Ala)
c.2275A>G (p.Thr759Ala)
c.2212A>G (p.Thr738Ala)
11g.47338535T>GCA380320167MYBPC3c.2293A>C (p.Thr765Pro)
c.2275A>C (p.Thr759Pro)
c.2212A>C (p.Thr738Pro)
gnomAD v4
11g.47338536G>ACA474216965MYBPC3c.2292C>T (p.Leu764=)
c.2274C>T (p.Leu758=)
c.2211C>T (p.Leu737=)
11g.47338536G>CCA474216964MYBPC3c.2292C>G (p.Leu764=)
c.2274C>G (p.Leu758=)
c.2211C>G (p.Leu737=)
11g.47338536G>TCA474216963MYBPC3c.2292C>A (p.Leu764=)
c.2274C>A (p.Leu758=)
c.2211C>A (p.Leu737=)
11g.47338536_47338537insCCAGGAACACTCCACTTGCAAATGCCGTGGTTCA2517188359MYBPC3c.2291_2292insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val766ThrfsTer?)
c.2273_2274insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val760ThrfsTer?)
c.2210_2211insAACCACGGCATTTGCAAGTGGAGTGTTCCTGG (p.Val739ThrfsTer?)
11g.47338537A>CCA380320168MYBPC3c.2291T>G (p.Leu764Arg)
c.2273T>G (p.Leu758Arg)
c.2210T>G (p.Leu737Arg)
ClinVar dbSNP
11g.47338537A>GCA380320169MYBPC3c.2291T>C (p.Leu764Pro)
c.2273T>C (p.Leu758Pro)
c.2210T>C (p.Leu737Pro)
11g.47338537A>TCA380320170MYBPC3c.2291T>A (p.Leu764His)
c.2273T>A (p.Leu758His)
c.2210T>A (p.Leu737His)
11g.47338538G>ACA380320171MYBPC3c.2290C>T (p.Leu764Phe)
c.2272C>T (p.Leu758Phe)
c.2209C>T (p.Leu737Phe)
dbSNP gnomAD v4
11g.47338538G>CCA380320172MYBPC3c.2290C>G (p.Leu764Val)
c.2272C>G (p.Leu758Val)
c.2209C>G (p.Leu737Val)
ClinVar dbSNP gnomAD v4
11g.47338538G=CA1969332215MYBPC3c.2290C= (p.Leu764=)
c.2272C= (p.Leu758=)
c.2209C= (p.Leu737=)
11g.47338538G>TCA380320173MYBPC3c.2290C>A (p.Leu764Ile)
c.2272C>A (p.Leu758Ile)
c.2209C>A (p.Leu737Ile)
11g.47338539G>ACA078616MYBPC3c.2289C>T (p.Asn763=)
c.2271C>T (p.Asn757=)
c.2208C>T (p.Asn736=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338539G>CCA380320175MYBPC3c.2289C>G (p.Asn763Lys)
c.2271C>G (p.Asn757Lys)
c.2208C>G (p.Asn736Lys)
11g.47338539G=CA1969332218MYBPC3c.2289C= (p.Asn763=)
c.2271C= (p.Asn757=)
c.2208C= (p.Asn736=)
11g.47338539G>TCA380320174MYBPC3c.2289C>A (p.Asn763Lys)
c.2271C>A (p.Asn757Lys)
c.2208C>A (p.Asn736Lys)
gnomAD v4
11g.47338540T>ACA380320176MYBPC3c.2288A>T (p.Asn763Ile)
c.2270A>T (p.Asn757Ile)
c.2207A>T (p.Asn736Ile)
11g.47338540T>CCA011974MYBPC3c.2288A>G (p.Asn763Ser)
c.2270A>G (p.Asn757Ser)
c.2207A>G (p.Asn736Ser)
ClinVar dbSNP gnomAD v4
11g.47338540T>GCA380320177MYBPC3c.2288A>C (p.Asn763Thr)
c.2270A>C (p.Asn757Thr)
c.2207A>C (p.Asn736Thr)
11g.47338540T=CA1969332225MYBPC3c.2288A= (p.Asn763=)
c.2270A= (p.Asn757=)
c.2207A= (p.Asn736=)
11g.47338540_47338541insCGCCGGCCGACTGCGTCAACTTAGCCATAACCATCATCGCAGCCATGATAAGCATGGTAGCAATGGTGCCATTTTGAAGCCA2525265294MYBPC3c.2287_2288insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn763SerfsTer16)
c.2269_2270insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn757SerfsTer16)
c.2206_2207insGCTTCAAAATGGCACCATTGCTACCATGCTTATCATGGCTGCGATGATGGTTATGGCTAAGTTGACGCAGTCGGCCGGCG (p.Asn736SerfsTer16)
11g.47338541T>ACA380320178MYBPC3c.2287A>T (p.Asn763Tyr)
c.2269A>T (p.Asn757Tyr)
c.2206A>T (p.Asn736Tyr)
11g.47338541T>CCA380320179MYBPC3c.2287A>G (p.Asn763Asp)
c.2269A>G (p.Asn757Asp)
c.2206A>G (p.Asn736Asp)
11g.47338541T>GCA380320180MYBPC3c.2287A>C (p.Asn763His)
c.2269A>C (p.Asn757His)
c.2206A>C (p.Asn736His)
11g.47338542G>ACA049022MYBPC3c.2286C>T (p.Val762=)
c.2268C>T (p.Val756=)
c.2205C>T (p.Val735=)
11g.47338542G>CCA474216966MYBPC3c.2286C>G (p.Val762=)
c.2268C>G (p.Val756=)
c.2205C>G (p.Val735=)
ClinVar dbSNP gnomAD v4
11g.47338542G>TCA474216967MYBPC3c.2286C>A (p.Val762=)
c.2268C>A (p.Val756=)
c.2205C>A (p.Val735=)
11g.47338543A=CA1969332230MYBPC3c.2285T= (p.Val762=)
c.2267T= (p.Val756=)
c.2204T= (p.Val735=)
11g.47338543A>CCA380320181MYBPC3c.2285T>G (p.Val762Gly)
c.2267T>G (p.Val756Gly)
c.2204T>G (p.Val735Gly)
dbSNP
11g.47338543A>GCA380320182MYBPC3c.2285T>C (p.Val762Ala)
c.2267T>C (p.Val756Ala)
c.2204T>C (p.Val735Ala)
11g.47338543A>TCA380320183MYBPC3c.2285T>A (p.Val762Asp)
c.2267T>A (p.Val756Asp)
c.2204T>A (p.Val735Asp)
ClinVar dbSNP gnomAD v4
11g.47338544C>ACA380320184MYBPC3c.2284G>T (p.Val762Phe)
c.2266G>T (p.Val756Phe)
c.2203G>T (p.Val735Phe)
11g.47338544C>GCA380320185MYBPC3c.2284G>C (p.Val762Leu)
c.2266G>C (p.Val756Leu)
c.2203G>C (p.Val735Leu)
gnomAD v4
11g.47338544C>TCA380320186MYBPC3c.2284G>A (p.Val762Ile)
c.2266G>A (p.Val756Ile)
c.2203G>A (p.Val735Ile)
11g.47338545C>ACA380320188MYBPC3c.2283G>T (p.Gln761His)
c.2265G>T (p.Gln755His)
c.2202G>T (p.Gln734His)
11g.47338545C>GCA380320187MYBPC3c.2283G>C (p.Gln761His)
c.2265G>C (p.Gln755His)
c.2202G>C (p.Gln734His)
11g.47338545C>TCA474216968MYBPC3c.2283G>A (p.Gln761=)
c.2265G>A (p.Gln755=)
c.2202G>A (p.Gln734=)
11g.47338546T>ACA380320189MYBPC3c.2282A>T (p.Gln761Leu)
c.2264A>T (p.Gln755Leu)
c.2201A>T (p.Gln734Leu)
11g.47338546T>CCA380320190MYBPC3c.2282A>G (p.Gln761Arg)
c.2264A>G (p.Gln755Arg)
c.2201A>G (p.Gln734Arg)
11g.47338546T>GCA380320191MYBPC3c.2282A>C (p.Gln761Pro)
c.2264A>C (p.Gln755Pro)
c.2201A>C (p.Gln734Pro)
11g.47338547G>ACA380320192MYBPC3c.2281C>T (p.Gln761Ter)
c.2263C>T (p.Gln755Ter)
c.2200C>T (p.Gln734Ter)
ClinVar dbSNP
11g.47338547G>CCA380320193MYBPC3c.2281C>G (p.Gln761Glu)
c.2263C>G (p.Gln755Glu)
c.2200C>G (p.Gln734Glu)
11g.47338547G=CA1969332235MYBPC3c.2281C= (p.Gln761=)
c.2263C= (p.Gln755=)
c.2200C= (p.Gln734=)
11g.47338547G>TCA380320194MYBPC3c.2281C>A (p.Gln761Lys)
c.2263C>A (p.Gln755Lys)
c.2200C>A (p.Gln734Lys)
11g.47338548delCA2580084162MYBPC3c.2281del (p.Gln761ArgfsTer?)
c.2263del (p.Gln755ArgfsTer?)
c.2200del (p.Gln734ArgfsTer?)
ClinVar
11g.47338548G>ACA474216970MYBPC3c.2280C>T (p.Asp760=)
c.2262C>T (p.Asp754=)
c.2199C>T (p.Asp733=)
ClinVar gnomAD v4
11g.47338548G>CCA380320195MYBPC3c.2280C>G (p.Asp760Glu)
c.2262C>G (p.Asp754Glu)
c.2199C>G (p.Asp733Glu)
gnomAD v4
11g.47338548G>TCA380320196MYBPC3c.2280C>A (p.Asp760Glu)
c.2262C>A (p.Asp754Glu)
c.2199C>A (p.Asp733Glu)
11g.47338548_47338549delinsGTCA1969332239MYBPC3c.2279_2280delinsAC (p.Asp760=)
c.2261_2262delinsAC (p.Asp754=)
c.2198_2199delinsAC (p.Asp733=)
11g.47338549delCA16613383MYBPC3c.2279del (p.Asp760AlafsTer?)
c.2261del (p.Asp754AlafsTer?)
c.2198del (p.Asp733AlafsTer?)
ClinVar dbSNP
11g.47338549T>ACA380320197MYBPC3c.2279A>T (p.Asp760Val)
c.2261A>T (p.Asp754Val)
c.2198A>T (p.Asp733Val)
11g.47338549T>CCA380320198MYBPC3c.2279A>G (p.Asp760Gly)
c.2261A>G (p.Asp754Gly)
c.2198A>G (p.Asp733Gly)
11g.47338549T>GCA380320199MYBPC3c.2279A>C (p.Asp760Ala)
c.2261A>C (p.Asp754Ala)
c.2198A>C (p.Asp733Ala)
11g.47338550C>ACA380320200MYBPC3c.2278G>T (p.Asp760Tyr)
c.2260G>T (p.Asp754Tyr)
c.2197G>T (p.Asp733Tyr)
11g.47338550C=CA1969332245MYBPC3c.2278G= (p.Asp760=)
c.2260G= (p.Asp754=)
c.2197G= (p.Asp733=)
11g.47338550C>GCA078614MYBPC3c.2278G>C (p.Asp760His)
c.2260G>C (p.Asp754His)
c.2197G>C (p.Asp733His)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338550C>TCA380320201MYBPC3c.2278G>A (p.Asp760Asn)
c.2260G>A (p.Asp754Asn)
c.2197G>A (p.Asp733Asn)
dbSNP
11g.47338550_47338551delinsGTCA2580084163MYBPC3c.2277_2278delinsAC (p.Asp760His)
c.2259_2260delinsAC (p.Asp754His)
c.2196_2197delinsAC (p.Asp733His)
ClinVar
11g.47338551C>ACA380320202MYBPC3c.2277G>T (p.Glu759Asp)
c.2259G>T (p.Glu753Asp)
c.2196G>T (p.Glu732Asp)
11g.47338551C=CA1969332249MYBPC3c.2277G= (p.Glu759=)
c.2259G= (p.Glu753=)
c.2196G= (p.Glu732=)
11g.47338551C>GCA380320203MYBPC3c.2277G>C (p.Glu759Asp)
c.2259G>C (p.Glu753Asp)
c.2196G>C (p.Glu732Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338551C>TCA078612MYBPC3c.2277G>A (p.Glu759=)
c.2259G>A (p.Glu753=)
c.2196G>A (p.Glu732=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47338552T>ACA380320205MYBPC3c.2276A>T (p.Glu759Val)
c.2258A>T (p.Glu753Val)
c.2195A>T (p.Glu732Val)
11g.47338552T>CCA380320204MYBPC3c.2276A>G (p.Glu759Gly)
c.2258A>G (p.Glu753Gly)
c.2195A>G (p.Glu732Gly)
11g.47338552T>GCA380320206MYBPC3c.2276A>C (p.Glu759Ala)
c.2258A>C (p.Glu753Ala)
c.2195A>C (p.Glu732Ala)
11g.47338553C>ACA380320207MYBPC3c.2275G>T (p.Glu759Ter)
c.2257G>T (p.Glu753Ter)
c.2194G>T (p.Glu732Ter)
11g.47338553C=CA1969332253MYBPC3c.2275G= (p.Glu759=)
c.2257G= (p.Glu753=)
c.2194G= (p.Glu732=)
11g.47338553C>GCA049009MYBPC3c.2275G>C (p.Glu759Gln)
c.2257G>C (p.Glu753Gln)
c.2194G>C (p.Glu732Gln)
11g.47338553C>TCA078609MYBPC3c.2275G>A (p.Glu759Lys)
c.2257G>A (p.Glu753Lys)
c.2194G>A (p.Glu732Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338554G>ACA011968MYBPC3c.2274C>T (p.Gly758=)
c.2256C>T (p.Gly752=)
c.2193C>T (p.Gly731=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47338554G>CCA474216971MYBPC3c.2274C>G (p.Gly758=)
c.2256C>G (p.Gly752=)
c.2193C>G (p.Gly731=)
11g.47338554G=CA1969332258MYBPC3c.2274C= (p.Gly758=)
c.2256C= (p.Gly752=)
c.2193C= (p.Gly731=)
11g.47338554G>TCA474216972MYBPC3c.2274C>A (p.Gly758=)
c.2256C>A (p.Gly752=)
c.2193C>A (p.Gly731=)
11g.47338555C>ACA380320208MYBPC3c.2273G>T (p.Gly758Val)
c.2255G>T (p.Gly752Val)
c.2192G>T (p.Gly731Val)
11g.47338555C=CA1969332266MYBPC3c.2273G= (p.Gly758=)
c.2255G= (p.Gly752=)
c.2192G= (p.Gly731=)
11g.47338555C>GCA380320209MYBPC3c.2273G>C (p.Gly758Ala)
c.2255G>C (p.Gly752Ala)
c.2192G>C (p.Gly731Ala)
11g.47338555C>TCA380320210MYBPC3c.2273G>A (p.Gly758Asp)
c.2255G>A (p.Gly752Asp)
c.2192G>A (p.Gly731Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338556C>ACA380320211MYBPC3c.2272G>T (p.Gly758Cys)
c.2254G>T (p.Gly752Cys)
c.2191G>T (p.Gly731Cys)
11g.47338556C>GCA380320212MYBPC3c.2272G>C (p.Gly758Arg)
c.2254G>C (p.Gly752Arg)
c.2191G>C (p.Gly731Arg)
11g.47338556C>TCA048984MYBPC3c.2272G>A (p.Gly758Ser)
c.2254G>A (p.Gly752Ser)
c.2191G>A (p.Gly731Ser)
11g.47338557C>ACA474216975MYBPC3c.2271G>T (p.Val757=)
c.2253G>T (p.Val751=)
c.2190G>T (p.Val730=)
11g.47338557C=CA1969332268MYBPC3c.2271G= (p.Val757=)
c.2253G= (p.Val751=)
c.2190G= (p.Val730=)
11g.47338557C>GCA474216974MYBPC3c.2271G>C (p.Val757=)
c.2253G>C (p.Val751=)
c.2190G>C (p.Val730=)
11g.47338557C>TCA078605MYBPC3c.2271G>A (p.Val757=)
c.2253G>A (p.Val751=)
c.2190G>A (p.Val730=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.47338558A=CA1969332269MYBPC3c.2270T= (p.Val757=)
c.2252T= (p.Val751=)
c.2189T= (p.Val730=)
11g.47338558A>CCA380320215MYBPC3c.2270T>G (p.Val757Gly)
c.2252T>G (p.Val751Gly)
c.2189T>G (p.Val730Gly)
11g.47338558A>GCA380320214MYBPC3c.2270T>C (p.Val757Ala)
c.2252T>C (p.Val751Ala)
c.2189T>C (p.Val730Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47338558A>TCA380320213MYBPC3c.2270T>A (p.Val757Glu)
c.2252T>A (p.Val751Glu)
c.2189T>A (p.Val730Glu)
11g.47338559C>ACA380320216MYBPC3c.2269G>T (p.Val757Leu)
c.2251G>T (p.Val751Leu)
c.2188G>T (p.Val730Leu)
11g.47338559C=CA1969332270MYBPC3c.2269G= (p.Val757=)
c.2251G= (p.Val751=)
c.2188G= (p.Val730=)
11g.47338559C>GCA380320217MYBPC3c.2269G>C (p.Val757Leu)
c.2251G>C (p.Val751Leu)
c.2188G>C (p.Val730Leu)
11g.47338559C>TCA011961MYBPC3c.2269G>A (p.Val757Met)
c.2251G>A (p.Val751Met)
c.2188G>A (p.Val730Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47338560A=CA1969332274MYBPC3c.2268T= (p.Pro756=)
c.2250T= (p.Pro750=)
c.2187T= (p.Pro729=)
11g.47338560A>CCA474216978MYBPC3c.2268T>G (p.Pro756=)
c.2250T>G (p.Pro750=)
c.2187T>G (p.Pro729=)
11g.47338560A>GCA474216979MYBPC3c.2268T>C (p.Pro756=)
c.2250T>C (p.Pro750=)
c.2187T>C (p.Pro729=)
ClinVar dbSNP
11g.47338560A>TCA474216980MYBPC3c.2268T>A (p.Pro756=)
c.2250T>A (p.Pro750=)
c.2187T>A (p.Pro729=)
11g.47338560_47338561delinsAGCA1969332273MYBPC3c.2267_2268delinsCT (p.Pro756=)
c.2249_2250delinsCT (p.Pro750=)
c.2186_2187delinsCT (p.Pro729=)

Number of alleles fetched