Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47341257_47344691delCA913203384MYBPC3c.1091-1066_1791-12del
c.1073-1066_1773-12del
11g.47341909_47341931delinsCTCTCTCTCTGTTTCTCCCTGTGCA1969335219MYBPC3c.1790+60_1790+82delinsCACAGGGAGAAACAGAGAGAGAG (n.1790+60_1790+82delinsCACAGGGAGAAACAGAGAGAGAG)
c.1772+60_1772+82delinsCACAGGGAGAAACAGAGAGAGAG (n.1772+60_1772+82delinsCACAGGGAGAAACAGAGAGAGAG)
11g.47341921_47341942dupCA937671072MYBPC3c.1790+60_1790+81dup (n.1790+60_1790+81dup)
c.1772+60_1772+81dup (n.1772+60_1772+81dup)
dbSNP gnomAD v3 gnomAD v4
11g.47341921_47341942delCA599374387MYBPC3c.1790+60_1790+81del (n.1790+60_1790+81del)
c.1772+60_1772+81del (n.1772+60_1772+81del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341921_47341930dupCA2613401383MYBPC3c.1790+65_1790+74dup (n.1790+65_1790+74dup)
c.1772+65_1772+74dup (n.1772+65_1772+74dup)
gnomAD v4
11g.47341930T>ACA2613401415MYBPC3c.1790+61A>T (n.1790+61A>T)
c.1772+61A>T (n.1772+61A>T)
gnomAD v4
11g.47341931G>CCA2574815898MYBPC3c.1790+60C>G (n.1790+60C>G)
c.1772+60C>G (n.1772+60C>G)
dbSNP gnomAD v4
11g.47341931_47341935delinsGTCTCCA1969335229MYBPC3c.1790+56_1790+60delinsGAGAC (n.1790+56_1790+60delinsGAGAC)
c.1772+56_1772+60delinsGAGAC (n.1772+56_1772+60delinsGAGAC)
11g.47341939_47341940delCA2613401416MYBPC3c.1790+58_1790+59del (n.1790+58_1790+59del)
c.1772+58_1772+59del (n.1772+58_1772+59del)
gnomAD v4
11g.47341937_47341940delCA676999141MYBPC3c.1790+56_1790+59del (n.1790+56_1790+59del)
c.1772+56_1772+59del (n.1772+56_1772+59del)
dbSNP gnomAD v4
11g.47341933C>ACA2519350980MYBPC3c.1790+58G>T (n.1790+58G>T)
c.1772+58G>T (n.1772+58G>T)
11g.47341933C>TCA2613401417MYBPC3c.1790+58G>A (n.1790+58G>A)
c.1772+58G>A (n.1772+58G>A)
gnomAD v4
11g.47341935C=CA1969335230MYBPC3c.1790+56G= (n.1790+56G=)
c.1772+56G= (n.1772+56G=)
11g.47341935C>TCA599374389MYBPC3c.1790+56G>A (n.1790+56G>A)
c.1772+56G>A (n.1772+56G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341936T>CCA2613401418MYBPC3c.1790+55A>G (n.1790+55A>G)
c.1772+55A>G (n.1772+55A>G)
gnomAD v4
11g.47341937C>GCA2613401419MYBPC3c.1790+54G>C (n.1790+54G>C)
c.1772+54G>C (n.1772+54G>C)
gnomAD v4
11g.47341937C>TCA2574815899MYBPC3c.1790+54G>A (n.1790+54G>A)
c.1772+54G>A (n.1772+54G>A)
11g.47341938_47341960delinsTCTGTCTCCATCTCAGTCTCCACCA1969335231MYBPC3c.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA (n.1790+31_1790+53delinsGTGGAGACTGAGATGGAGACAGA)
c.1772+31_1772+53delinsGTGGAGACTGAGATGGAGACAGA (n.1772+31_1772+53delinsGTGGAGACTGAGATGGAGACAGA)
11g.47341944_47341965delCA676999144MYBPC3c.1790+31_1790+52del (n.1790+31_1790+52del)
c.1772+31_1772+52del (n.1772+31_1772+52del)
dbSNP gnomAD v3 gnomAD v4
11g.47341941_47341942delCA2574815901MYBPC3c.1790+50_1790+51del (n.1790+50_1790+51del)
c.1772+50_1772+51del (n.1772+50_1772+51del)
11g.47341941G>CCA474218682MYBPC3c.1790+50C>G (n.1790+50C>G)
c.1772+50C>G (n.1772+50C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341941G=CA1969335233MYBPC3c.1790+50C= (n.1790+50C=)
c.1772+50C= (n.1772+50C=)
11g.47341941G>TCA2613401420MYBPC3c.1790+50C>A (n.1790+50C>A)
c.1772+50C>A (n.1772+50C>A)
gnomAD v4
11g.47341942T>CCA2613401421MYBPC3c.1790+49A>G (n.1790+49A>G)
c.1772+49A>G (n.1772+49A>G)
gnomAD v4
11g.47341943C>GCA2548549630MYBPC3c.1790+48G>C (n.1790+48G>C)
c.1772+48G>C (n.1772+48G>C)
11g.47341944T>GCA937671076MYBPC3c.1790+47A>C (n.1790+47A>C)
c.1772+47A>C (n.1772+47A>C)
dbSNP gnomAD v3 gnomAD v4
11g.47341944T=CA1969335234MYBPC3c.1790+47A= (n.1790+47A=)
c.1772+47A= (n.1772+47A=)
11g.47341945C>ACA2613401422MYBPC3c.1790+46G>T (n.1790+46G>T)
c.1772+46G>T (n.1772+46G>T)
gnomAD v4
11g.47341948_47341960delinsTCTCAGTCTCCACCA1969335235MYBPC3c.1790+31_1790+43delinsGTGGAGACTGAGA (n.1790+31_1790+43delinsGTGGAGACTGAGA)
c.1772+31_1772+43delinsGTGGAGACTGAGA (n.1772+31_1772+43delinsGTGGAGACTGAGA)
11g.47341949C=CA1969335238MYBPC3c.1790+42G= (n.1790+42G=)
c.1772+42G= (n.1772+42G=)
11g.47341949C>GCA599374390MYBPC3c.1790+42G>C (n.1790+42G>C)
c.1772+42G>C (n.1772+42G>C)
dbSNP gnomAD v2 gnomAD v4
11g.47341949C>TCA221694833MYBPC3c.1790+42G>A (n.1790+42G>A)
c.1772+42G>A (n.1772+42G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341951_47341962dupCA2613401423MYBPC3c.1790+31_1790+42dup (n.1790+31_1790+42dup)
c.1772+31_1772+42dup (n.1772+31_1772+42dup)
gnomAD v4
11g.47341951_47341962delCA1969335237MYBPC3c.1790+31_1790+42del (n.1790+31_1790+42del)
c.1772+31_1772+42del (n.1772+31_1772+42del)
dbSNP
11g.47341951C>ACA2613401425MYBPC3c.1790+40G>T (n.1790+40G>T)
c.1772+40G>T (n.1772+40G>T)
gnomAD v4
11g.47341951_47341952delCA2613401424MYBPC3c.1790+39_1790+40del (n.1790+39_1790+40del)
c.1772+39_1772+40del (n.1772+39_1772+40del)
gnomAD v4
11g.47341952A=CA1969335240MYBPC3c.1790+39T= (n.1790+39T=)
c.1772+39T= (n.1772+39T=)
11g.47341952A>GCA1969335239MYBPC3c.1790+39T>C (n.1790+39T>C)
c.1772+39T>C (n.1772+39T>C)
dbSNP
11g.47341953G>ACA599374391MYBPC3c.1790+38C>T (n.1790+38C>T)
c.1772+38C>T (n.1772+38C>T)
dbSNP gnomAD v2
11g.47341953G=CA1969335241MYBPC3c.1790+38C= (n.1790+38C=)
c.1772+38C= (n.1772+38C=)
11g.47341954T>CCA2574815907MYBPC3c.1790+37A>G (n.1790+37A>G)
c.1772+37A>G (n.1772+37A>G)
gnomAD v4
11g.47341955C>ACA078292MYBPC3c.1790+36G>T (n.1790+36G>T)
c.1772+36G>T (n.1772+36G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47341955C=CA1969335242MYBPC3c.1790+36G= (n.1790+36G=)
c.1772+36G= (n.1772+36G=)
11g.47341957C=CA1969335244MYBPC3c.1790+34G= (n.1790+34G=)
c.1772+34G= (n.1772+34G=)
11g.47341957C>GCA2613401429MYBPC3c.1790+34G>C (n.1790+34G>C)
c.1772+34G>C (n.1772+34G>C)
gnomAD v4
11g.47341957C>TCA221694842MYBPC3c.1790+34G>A (n.1790+34G>A)
c.1772+34G>A (n.1772+34G>A)
dbSNP
11g.47341958C>ACA046654MYBPC3c.1790+33G>T (n.1790+33G>T)
c.1772+33G>T (n.1772+33G>T)
11g.47341958C=CA1969335245MYBPC3c.1790+33G= (n.1790+33G=)
c.1772+33G= (n.1772+33G=)
11g.47341958C>TCA1969335246MYBPC3c.1790+33G>A (n.1790+33G>A)
c.1772+33G>A (n.1772+33G>A)
dbSNP gnomAD v4
11g.47341960C>TCA2613401434MYBPC3c.1790+31G>A (n.1790+31G>A)
c.1772+31G>A (n.1772+31G>A)
gnomAD v4
11g.47341961C>TCA2613401435MYBPC3c.1790+30G>A (n.1790+30G>A)
c.1772+30G>A (n.1772+30G>A)
gnomAD v4
11g.47341963G>ACA599374392MYBPC3c.1790+28C>T (n.1790+28C>T)
c.1772+28C>T (n.1772+28C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341963G=CA1969335247MYBPC3c.1790+28C= (n.1790+28C=)
c.1772+28C= (n.1772+28C=)
11g.47341964dupCA2564840908MYBPC3c.1790+27dup (n.1790+27dup)
c.1772+27dup (n.1772+27dup)
11g.47341965C>ACA2613401436MYBPC3c.1790+26G>T (n.1790+26G>T)
c.1772+26G>T (n.1772+26G>T)
gnomAD v4
11g.47341966_47341967insATCCA2570354809MYBPC3c.1790+25_1790+26insATG (n.1790+25_1790+26insATG)
c.1772+25_1772+26insATG (n.1772+25_1772+26insATG)
11g.47341967C>ACA2613401438MYBPC3c.1790+24G>T (n.1790+24G>T)
c.1772+24G>T (n.1772+24G>T)
gnomAD v4
11g.47341969T>CCA676999161MYBPC3c.1790+22A>G (n.1790+22A>G)
c.1772+22A>G (n.1772+22A>G)
dbSNP gnomAD v3 gnomAD v4
11g.47341969T=CA1969335248MYBPC3c.1790+22A= (n.1790+22A=)
c.1772+22A= (n.1772+22A=)
11g.47341970C>TCA2613401441MYBPC3c.1790+21G>A (n.1790+21G>A)
c.1772+21G>A (n.1772+21G>A)
gnomAD v4
11g.47341971C>GCA2574815923MYBPC3c.1790+20G>C (n.1790+20G>C)
c.1772+20G>C (n.1772+20G>C)
ClinVar
11g.47341972A=CA1969335249MYBPC3c.1790+19T= (n.1790+19T=)
c.1772+19T= (n.1772+19T=)
11g.47341972A>GCA599374393MYBPC3c.1790+19T>C (n.1790+19T>C)
c.1772+19T>C (n.1772+19T>C)
dbSNP gnomAD v2 gnomAD v4
11g.47341973C>TCA2596115346MYBPC3c.1790+18G>A (n.1790+18G>A)
c.1772+18G>A (n.1772+18G>A)
dbSNP gnomAD v3 gnomAD v4
11g.47341974C>GCA2574815926MYBPC3c.1790+17G>C (n.1790+17G>C)
c.1772+17G>C (n.1772+17G>C)
gnomAD v4
11g.47341975T>CCA2613401471MYBPC3c.1790+16A>G (n.1790+16A>G)
c.1772+16A>G (n.1772+16A>G)
gnomAD v4
11g.47341975T>GCA2613401467MYBPC3c.1790+16A>C (n.1790+16A>C)
c.1772+16A>C (n.1772+16A>C)
gnomAD v4
11g.47341975dupCA2613401474MYBPC3c.1790+16dup (n.1790+16dup)
c.1772+16dup (n.1772+16dup)
gnomAD v4
11g.47341976G=CA1969335251MYBPC3c.1790+15C= (n.1790+15C=)
c.1772+15C= (n.1772+15C=)
11g.47341976dupCA2613401484MYBPC3c.1790+15dup (n.1790+15dup)
c.1772+15dup (n.1772+15dup)
gnomAD v4
11g.47341976_47341977insGCCAACACACTCACCCA1969335252MYBPC3c.1790+14_1790+15insGGTGAGTGTGTTGGC (n.1790+14_1790+15insGGTGAGTGTGTTGGC)
c.1772+14_1772+15insGGTGAGTGTGTTGGC (n.1772+14_1772+15insGGTGAGTGTGTTGGC)
dbSNP
11g.47341977C=CA1969335253MYBPC3c.1790+14G= (n.1790+14G=)
c.1772+14G= (n.1772+14G=)
11g.47341977C>GCA221694847MYBPC3c.1790+14G>C (n.1790+14G>C)
c.1772+14G>C (n.1772+14G>C)
dbSNP
11g.47341978C=CA1969335255MYBPC3c.1790+13G= (n.1790+13G=)
c.1772+13G= (n.1772+13G=)
11g.47341978C>GCA599374394MYBPC3c.1790+13G>C (n.1790+13G>C)
c.1772+13G>C (n.1772+13G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47341978C>TCA078290MYBPC3c.1790+13G>A (n.1790+13G>A)
c.1772+13G>A (n.1772+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341978_47341979insAACACACTCACCGCCA2613401503MYBPC3c.1790+13_1790+14insCGGTGAGTGTGTTG (n.1790+13_1790+14insCGGTGAGTGTGTTG)
c.1772+13_1772+14insCGGTGAGTGTGTTG (n.1772+13_1772+14insCGGTGAGTGTGTTG)
gnomAD v4
11g.47341979C>GCA2574815938MYBPC3c.1790+12G>C (n.1790+12G>C)
c.1772+12G>C (n.1772+12G>C)
ClinVar
11g.47341979C>TCA2613401512MYBPC3c.1790+12G>A (n.1790+12G>A)
c.1772+12G>A (n.1772+12G>A)
gnomAD v4
11g.47341980T>CCA599374395MYBPC3c.1790+11A>G (n.1790+11A>G)
c.1772+11A>G (n.1772+11A>G)
dbSNP gnomAD v2 gnomAD v4
11g.47341980T=CA1969335256MYBPC3c.1790+11A= (n.1790+11A=)
c.1772+11A= (n.1772+11A=)
11g.47341982delCA2613401542MYBPC3c.1790+9del (n.1790+9del)
c.1772+9del (n.1772+9del)
gnomAD v4
11g.47341985_47341986delCA2580615686MYBPC3c.1790+8_1790+9del (n.1790+8_1790+9del)
c.1772+8_1772+9del (n.1772+8_1772+9del)
ClinVar dbSNP
11g.47341983A=CA1969335257MYBPC3c.1790+8T= (n.1790+8T=)
c.1772+8T= (n.1772+8T=)
11g.47341983A>GCA2499220971MYBPC3c.1790+8T>C (n.1790+8T>C)
c.1772+8T>C (n.1772+8T>C)
ClinVar dbSNP
11g.47341983A>TCA599374396MYBPC3c.1790+8T>A (n.1790+8T>A)
c.1772+8T>A (n.1772+8T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47341984C>ACA2613401551MYBPC3c.1790+7G>T (n.1790+7G>T)
c.1772+7G>T (n.1772+7G>T)
gnomAD v4
11g.47341984C=CA1969335258MYBPC3c.1790+7G= (n.1790+7G=)
c.1772+7G= (n.1772+7G=)
11g.47341984C>TCA011126MYBPC3c.1790+7G>A (n.1790+7G>A)
c.1772+7G>A (n.1772+7G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341985A=CA1969335259MYBPC3c.1790+6T= (n.1790+6T=)
c.1772+6T= (n.1772+6T=)
11g.47341985A>GCA2613401567MYBPC3c.1790+6T>C (n.1790+6T>C)
c.1772+6T>C (n.1772+6T>C)
gnomAD v4
11g.47341985A>TCA676999173MYBPC3c.1790+6T>A (n.1790+6T>A)
c.1772+6T>A (n.1772+6T>A)
dbSNP
11g.47341986C=CA1969335261MYBPC3c.1790+5G= (n.1790+5G=)
c.1772+5G= (n.1772+5G=)
11g.47341986C>GCA2695212782MYBPC3c.1790+5G>C (n.1790+5G>C)
c.1772+5G>C (n.1772+5G>C)
11g.47341986C>TCA011121MYBPC3c.1790+5G>A (n.1790+5G>A)
c.1772+5G>A (n.1772+5G>A)
ClinVar dbSNP
11g.47341988C>ACA2613401570MYBPC3c.1790+3G>T (n.1790+3G>T)
c.1772+3G>T (n.1772+3G>T)
gnomAD v4
11g.47341988C=CA1969335262MYBPC3c.1790+3G= (n.1790+3G=)
c.1772+3G= (n.1772+3G=)
11g.47341988C>TCA221694866MYBPC3c.1790+3G>A (n.1790+3G>A)
c.1772+3G>A (n.1772+3G>A)
ClinVar dbSNP gnomAD v4
11g.47341989A>CCA380324150MYBPC3c.1790+2T>G (n.1790+2T>G)
c.1772+2T>G (n.1772+2T>G)
11g.47341989A>GCA380324149MYBPC3c.1790+2T>C (n.1790+2T>C)
c.1772+2T>C (n.1772+2T>C)
11g.47341989A>TCA380324148MYBPC3c.1790+2T>A (n.1790+2T>A)
c.1772+2T>A (n.1772+2T>A)
11g.47341990C>ACA380324152MYBPC3c.1790+1G>T (n.1790+1G>T)
c.1772+1G>T (n.1772+1G>T)
11g.47341990C=CA1969335264MYBPC3c.1790+1G= (n.1790+1G=)
c.1772+1G= (n.1772+1G=)
11g.47341990C>GCA380324151MYBPC3c.1790+1G>C (n.1790+1G>C)
c.1772+1G>C (n.1772+1G>C)
ClinVar
11g.47341990C>TCA380324153MYBPC3c.1790+1G>A (n.1790+1G>A)
c.1772+1G>A (n.1772+1G>A)
ClinVar dbSNP
11g.47341991C>ACA380324154MYBPC3c.1790G>T (p.Arg597Leu)
c.1772G>T (p.Arg591Leu)
11g.47341991C=CA1969335266MYBPC3c.1790G= (p.Arg597=)
c.1772G= (p.Arg591=)
11g.47341991C>GCA380324155MYBPC3c.1790G>C (p.Arg597Pro)
c.1772G>C (p.Arg591Pro)
11g.47341991C>TCA011138MYBPC3c.1790G>A (p.Arg597Gln)
c.1772G>A (p.Arg591Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341992G>ACA011112MYBPC3c.1789C>T (p.Arg597Trp)
c.1771C>T (p.Arg591Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341992G>CCA380324156MYBPC3c.1789C>G (p.Arg597Gly)
c.1771C>G (p.Arg591Gly)
11g.47341992G=CA1969335268MYBPC3c.1789C= (p.Arg597=)
c.1771C= (p.Arg591=)
11g.47341992G>TCA474218683MYBPC3c.1789C>A (p.Arg597=)
c.1771C>A (p.Arg591=)
11g.47341993C>ACA474218684MYBPC3c.1788G>T (p.Gly596=)
c.1770G>T (p.Gly590=)
11g.47341993C=CA1969335269MYBPC3c.1788G= (p.Gly596=)
c.1770G= (p.Gly590=)
11g.47341993C>GCA046709MYBPC3c.1788G>C (p.Gly596=)
c.1770G>C (p.Gly590=)
11g.47341993C>TCA474218685MYBPC3c.1788G>A (p.Gly596=)
c.1770G>A (p.Gly590=)
dbSNP
11g.47341994C>ACA380324157MYBPC3c.1787G>T (p.Gly596Val)
c.1769G>T (p.Gly590Val)
11g.47341994C>GCA380324158MYBPC3c.1787G>C (p.Gly596Ala)
c.1769G>C (p.Gly590Ala)
11g.47341994C>TCA046677MYBPC3c.1787G>A (p.Gly596Glu)
c.1769G>A (p.Gly590Glu)
11g.47341995C>ACA380324159MYBPC3c.1786G>T (p.Gly596Trp)
c.1768G>T (p.Gly590Trp)
11g.47341995C=CA1969335271MYBPC3c.1786G= (p.Gly596=)
c.1768G= (p.Gly590=)
11g.47341995C>GCA380324160MYBPC3c.1786G>C (p.Gly596Arg)
c.1768G>C (p.Gly590Arg)
gnomAD v4
11g.47341995C>TCA011102MYBPC3c.1786G>A (p.Gly596Arg)
c.1768G>A (p.Gly590Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341996delCA2613401593MYBPC3c.1785del (p.Ile595MetfsTer7)
c.1767del (p.Ile589MetfsTer7)
gnomAD v4
11g.47341996G>ACA078286MYBPC3c.1785C>T (p.Ile595=)
c.1767C>T (p.Ile589=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47341996G>CCA380324161MYBPC3c.1785C>G (p.Ile595Met)
c.1767C>G (p.Ile589Met)
11g.47341996G=CA1969335274MYBPC3c.1785C= (p.Ile595=)
c.1767C= (p.Ile589=)
11g.47341996G>TCA474218686MYBPC3c.1785C>A (p.Ile595=)
c.1767C>A (p.Ile589=)
ClinVar dbSNP gnomAD v4
11g.47341997A=CA1969335275MYBPC3c.1784T= (p.Ile595=)
c.1766T= (p.Ile589=)
11g.47341997A>CCA380324164MYBPC3c.1784T>G (p.Ile595Ser)
c.1766T>G (p.Ile589Ser)
11g.47341997A>GCA380324162MYBPC3c.1784T>C (p.Ile595Thr)
c.1766T>C (p.Ile589Thr)
11g.47341997A>TCA380324163MYBPC3c.1784T>A (p.Ile595Asn)
c.1766T>A (p.Ile589Asn)
dbSNP
11g.47341998T>ACA380324165MYBPC3c.1783A>T (p.Ile595Phe)
c.1765A>T (p.Ile589Phe)
11g.47341998T>CCA011094MYBPC3c.1783A>G (p.Ile595Val)
c.1765A>G (p.Ile589Val)
ClinVar dbSNP gnomAD v4
11g.47341998T>GCA380324166MYBPC3c.1783A>C (p.Ile595Leu)
c.1765A>C (p.Ile589Leu)
11g.47341998T=CA1969335276MYBPC3c.1783A= (p.Ile595=)
c.1765A= (p.Ile589=)
11g.47341999G>ACA046608MYBPC3c.1782C>T (p.His594=)
c.1764C>T (p.His588=)
dbSNP gnomAD v2 gnomAD v4
11g.47341999G>CCA380324167MYBPC3c.1782C>G (p.His594Gln)
c.1764C>G (p.His588Gln)
11g.47341999G=CA1969335277MYBPC3c.1782C= (p.His594=)
c.1764C= (p.His588=)
11g.47341999G>TCA380324168MYBPC3c.1782C>A (p.His594Gln)
c.1764C>A (p.His588Gln)
gnomAD v4
11g.47342000T>ACA380324169MYBPC3c.1781A>T (p.His594Leu)
c.1763A>T (p.His588Leu)
11g.47342000T>CCA380324170MYBPC3c.1781A>G (p.His594Arg)
c.1763A>G (p.His588Arg)
11g.47342000T>GCA380324171MYBPC3c.1781A>C (p.His594Pro)
c.1763A>C (p.His588Pro)
11g.47342001G>ACA380324172MYBPC3c.1780C>T (p.His594Tyr)
c.1762C>T (p.His588Tyr)
ClinVar dbSNP
11g.47342001G>CCA380324173MYBPC3c.1780C>G (p.His594Asp)
c.1762C>G (p.His588Asp)
11g.47342001G>TCA380324174MYBPC3c.1780C>A (p.His594Asn)
c.1762C>A (p.His588Asn)
11g.47342003delCA2695212783MYBPC3c.1780del (p.His594ThrfsTer8)
c.1762del (p.His588ThrfsTer8)
11g.47342002G>ACA474218687MYBPC3c.1779C>T (p.Ser593=)
c.1761C>T (p.Ser587=)
gnomAD v4
11g.47342002G>CCA474218688MYBPC3c.1779C>G (p.Ser593=)
c.1761C>G (p.Ser587=)
11g.47342002G>TCA046698MYBPC3c.1779C>A (p.Ser593=)
c.1761C>A (p.Ser587=)
gnomAD v4
11g.47342003G>ACA011087MYBPC3c.1778C>T (p.Ser593Phe)
c.1760C>T (p.Ser587Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342003G>CCA380324176MYBPC3c.1778C>G (p.Ser593Cys)
c.1760C>G (p.Ser587Cys)
11g.47342003G=CA1969335279MYBPC3c.1778C= (p.Ser593=)
c.1760C= (p.Ser587=)
11g.47342003G>TCA380324175MYBPC3c.1778C>A (p.Ser593Tyr)
c.1760C>A (p.Ser587Tyr)
11g.47342003_47342004delinsGACA1969335281MYBPC3c.1777_1778delinsTC (p.Ser593=)
c.1759_1760delinsTC (p.Ser587=)
11g.47342003_47342005delinsGACCA1969335280MYBPC3c.1776_1778delinsGTC (p.Val592=)
c.1758_1760delinsGTC (p.Val586=)
11g.47342004delCA1969335282MYBPC3c.1777del (p.Ser593ProfsTer9)
c.1759del (p.Ser587ProfsTer9)
ClinVar dbSNP gnomAD v4
11g.47342004A>CCA380324177MYBPC3c.1777T>G (p.Ser593Ala)
c.1759T>G (p.Ser587Ala)
11g.47342004A>GCA380324178MYBPC3c.1777T>C (p.Ser593Pro)
c.1759T>C (p.Ser587Pro)
11g.47342004A>TCA380324179MYBPC3c.1777T>A (p.Ser593Thr)
c.1759T>A (p.Ser587Thr)
11g.47342006_47342007delCA011070MYBPC3c.1776_1777del (p.Ser593ProfsTer11)
c.1758_1759del (p.Ser587ProfsTer11)
ClinVar dbSNP
11g.47342005C>ACA474218689MYBPC3c.1776G>T (p.Val592=)
c.1758G>T (p.Val586=)
11g.47342005C=CA1969335284MYBPC3c.1776G= (p.Val592=)
c.1758G= (p.Val586=)
11g.47342005C>GCA474218690MYBPC3c.1776G>C (p.Val592=)
c.1758G>C (p.Val586=)
11g.47342005C>TCA011078MYBPC3c.1776G>A (p.Val592=)
c.1758G>A (p.Val586=)
ClinVar dbSNP
11g.47342006A=CA1969335286MYBPC3c.1775T= (p.Val592=)
c.1757T= (p.Val586=)
11g.47342006A>CCA380324180MYBPC3c.1775T>G (p.Val592Gly)
c.1757T>G (p.Val586Gly)
11g.47342006A>GCA10581159MYBPC3c.1775T>C (p.Val592Ala)
c.1757T>C (p.Val586Ala)
ClinVar dbSNP
11g.47342006A>TCA380324181MYBPC3c.1775T>A (p.Val592Glu)
c.1757T>A (p.Val586Glu)
11g.47342006dupCA2580084225MYBPC3c.1775dup (p.Ser593ValfsTer12)
c.1757dup (p.Ser587ValfsTer12)
ClinVar
11g.47342007C>ACA380324182MYBPC3c.1774G>T (p.Val592Leu)
c.1756G>T (p.Val586Leu)
gnomAD v4
11g.47342007C=CA1969335288MYBPC3c.1774G= (p.Val592=)
c.1756G= (p.Val586=)
11g.47342007C>GCA380324183MYBPC3c.1774G>C (p.Val592Leu)
c.1756G>C (p.Val586Leu)
11g.47342007C>TCA380324184MYBPC3c.1774G>A (p.Val592Met)
c.1756G>A (p.Val586Met)
dbSNP gnomAD v3 gnomAD v4
11g.47342008C>ACA078282MYBPC3c.1773G>T (p.Lys591Asn)
c.1755G>T (p.Lys585Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47342008C=CA1969335290MYBPC3c.1773G= (p.Lys591=)
c.1755G= (p.Lys585=)
11g.47342008C>GCA380324185MYBPC3c.1773G>C (p.Lys591Asn)
c.1755G>C (p.Lys585Asn)
11g.47342008C>TCA474218691MYBPC3c.1773G>A (p.Lys591=)
c.1755G>A (p.Lys585=)
dbSNP gnomAD v4
11g.47342009T>ACA380324188MYBPC3c.1772A>T (p.Lys591Met)
c.1754A>T (p.Lys585Met)
11g.47342009T>CCA380324186MYBPC3c.1772A>G (p.Lys591Arg)
c.1754A>G (p.Lys585Arg)
gnomAD v4
11g.47342009T>GCA380324187MYBPC3c.1772A>C (p.Lys591Thr)
c.1754A>C (p.Lys585Thr)
11g.47342010T>ACA380324189MYBPC3c.1771A>T (p.Lys591Ter)
c.1753A>T (p.Lys585Ter)
11g.47342010T>CCA380324190MYBPC3c.1771A>G (p.Lys591Glu)
c.1753A>G (p.Lys585Glu)
11g.47342010T>GCA380324191MYBPC3c.1771A>C (p.Lys591Gln)
c.1753A>C (p.Lys585Gln)
11g.47342011T>ACA474218692MYBPC3c.1770A>T (p.Ile590=)
c.1752A>T (p.Ile584=)
11g.47342011T>CCA380324192MYBPC3c.1770A>G (p.Ile590Met)
c.1752A>G (p.Ile584Met)
gnomAD v4
11g.47342011T>GCA474218695MYBPC3c.1770A>C (p.Ile590=)
c.1752A>C (p.Ile584=)
11g.47342012A=CA1969335291MYBPC3c.1769T= (p.Ile590=)
c.1751T= (p.Ile584=)
11g.47342012A>CCA380324193MYBPC3c.1769T>G (p.Ile590Arg)
c.1751T>G (p.Ile584Arg)
11g.47342012A>GCA380324194MYBPC3c.1769T>C (p.Ile590Thr)
c.1751T>C (p.Ile584Thr)
dbSNP gnomAD v2 gnomAD v4
11g.47342012A>TCA380324195MYBPC3c.1769T>A (p.Ile590Lys)
c.1751T>A (p.Ile584Lys)
gnomAD v4
11g.47342013T>ACA380324196MYBPC3c.1768A>T (p.Ile590Leu)
c.1750A>T (p.Ile584Leu)
11g.47342013T>CCA221694896MYBPC3c.1768A>G (p.Ile590Val)
c.1750A>G (p.Ile584Val)
ClinVar dbSNP gnomAD v4
11g.47342013T>GCA380324197MYBPC3c.1768A>C (p.Ile590Leu)
c.1750A>C (p.Ile584Leu)
11g.47342013T=CA1969335293MYBPC3c.1768A= (p.Ile590=)
c.1750A= (p.Ile584=)
11g.47342014G>ACA474218704MYBPC3c.1767C>T (p.Arg589=)
c.1749C>T (p.Arg583=)
dbSNP
11g.47342014G>CCA474218703MYBPC3c.1767C>G (p.Arg589=)
c.1749C>G (p.Arg583=)
11g.47342014G=CA1969335294MYBPC3c.1767C= (p.Arg589=)
c.1749C= (p.Arg583=)
11g.47342014G>TCA474218701MYBPC3c.1767C>A (p.Arg589=)
c.1749C>A (p.Arg583=)
11g.47342015C>ACA380324198MYBPC3c.1766G>T (p.Arg589Leu)
c.1748G>T (p.Arg583Leu)
ClinVar
11g.47342015C=CA1969335296MYBPC3c.1766G= (p.Arg589=)
c.1748G= (p.Arg583=)
11g.47342015C>GCA380324199MYBPC3c.1766G>C (p.Arg589Pro)
c.1748G>C (p.Arg583Pro)
11g.47342015C>TCA011050MYBPC3c.1766G>A (p.Arg589His)
c.1748G>A (p.Arg583His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342016G>ACA380324201MYBPC3c.1765C>T (p.Arg589Cys)
c.1747C>T (p.Arg583Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47342016G>CCA380324202MYBPC3c.1765C>G (p.Arg589Gly)
c.1747C>G (p.Arg583Gly)
dbSNP gnomAD v4
11g.47342016G=CA1969335298MYBPC3c.1765C= (p.Arg589=)
c.1747C= (p.Arg583=)
11g.47342016G>TCA380324200MYBPC3c.1765C>A (p.Arg589Ser)
c.1747C>A (p.Arg583Ser)
11g.47342017G>ACA078279MYBPC3c.1764C>T (p.Ser588=)
c.1746C>T (p.Ser582=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342017G>CCA380324204MYBPC3c.1764C>G (p.Ser588Arg)
c.1746C>G (p.Ser582Arg)
11g.47342017G=CA1969335299MYBPC3c.1764C= (p.Ser588=)
c.1746C= (p.Ser582=)
11g.47342017G>TCA380324203MYBPC3c.1764C>A (p.Ser588Arg)
c.1746C>A (p.Ser582Arg)
11g.47342018C>ACA380324205MYBPC3c.1763G>T (p.Ser588Ile)
c.1745G>T (p.Ser582Ile)
11g.47342018C>GCA380324206MYBPC3c.1763G>C (p.Ser588Thr)
c.1745G>C (p.Ser582Thr)
11g.47342018C>TCA046574MYBPC3c.1763G>A (p.Ser588Asn)
c.1745G>A (p.Ser582Asn)
11g.47342019T>ACA380324207MYBPC3c.1762A>T (p.Ser588Cys)
c.1744A>T (p.Ser582Cys)
11g.47342019T>CCA380324208MYBPC3c.1762A>G (p.Ser588Gly)
c.1744A>G (p.Ser582Gly)
ClinVar
11g.47342019T>GCA380324209MYBPC3c.1762A>C (p.Ser588Arg)
c.1744A>C (p.Ser582Arg)
11g.47342020G>ACA046556MYBPC3c.1761C>T (p.Asp587=)
c.1743C>T (p.Asp581=)
ClinVar
11g.47342020G>CCA380324210MYBPC3c.1761C>G (p.Asp587Glu)
c.1743C>G (p.Asp581Glu)
dbSNP gnomAD v4
11g.47342020G=CA1969335301MYBPC3c.1761C= (p.Asp587=)
c.1743C= (p.Asp581=)
11g.47342020G>TCA380324211MYBPC3c.1761C>A (p.Asp587Glu)
c.1743C>A (p.Asp581Glu)
11g.47342021T>ACA380324212MYBPC3c.1760A>T (p.Asp587Val)
c.1742A>T (p.Asp581Val)
11g.47342021T>CCA380324213MYBPC3c.1760A>G (p.Asp587Gly)
c.1742A>G (p.Asp581Gly)
11g.47342021T>GCA380324214MYBPC3c.1760A>C (p.Asp587Ala)
c.1742A>C (p.Asp581Ala)
11g.47342022C>ACA380324215MYBPC3c.1759G>T (p.Asp587Tyr)
c.1741G>T (p.Asp581Tyr)
gnomAD v4
11g.47342022C=CA1969335303MYBPC3c.1759G= (p.Asp587=)
c.1741G= (p.Asp581=)
11g.47342022C>GCA380324216MYBPC3c.1759G>C (p.Asp587His)
c.1741G>C (p.Asp581His)
ClinVar dbSNP
11g.47342022C>TCA011034MYBPC3c.1759G>A (p.Asp587Asn)
c.1741G>A (p.Asp581Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342023G>ACA011029MYBPC3c.1758C>T (p.Pro586=)
c.1740C>T (p.Pro580=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47342023G>CCA474218728MYBPC3c.1758C>G (p.Pro586=)
c.1740C>G (p.Pro580=)
11g.47342023G=CA1969335305MYBPC3c.1758C= (p.Pro586=)
c.1740C= (p.Pro580=)
11g.47342023G>TCA474218730MYBPC3c.1758C>A (p.Pro586=)
c.1740C>A (p.Pro580=)
11g.47342024G>ACA380324217MYBPC3c.1757C>T (p.Pro586Leu)
c.1739C>T (p.Pro580Leu)
11g.47342024G>CCA380324219MYBPC3c.1757C>G (p.Pro586Arg)
c.1739C>G (p.Pro580Arg)
11g.47342024G>TCA380324218MYBPC3c.1757C>A (p.Pro586His)
c.1739C>A (p.Pro580His)
11g.47342025G>ACA380324220MYBPC3c.1756C>T (p.Pro586Ser)
c.1738C>T (p.Pro580Ser)
11g.47342025G>CCA380324221MYBPC3c.1756C>G (p.Pro586Ala)
c.1738C>G (p.Pro580Ala)
dbSNP
11g.47342025G=CA1969335307MYBPC3c.1756C= (p.Pro586=)
c.1738C= (p.Pro580=)
11g.47342025G>TCA380324222MYBPC3c.1756C>A (p.Pro586Thr)
c.1738C>A (p.Pro580Thr)
11g.47342025_47342026delinsGCCA1969335308MYBPC3c.1755_1756delinsGC (p.Val585=)
c.1737_1738delinsGC (p.Val579=)
11g.47342026delCA915948155MYBPC3c.1755del (p.Asp587ThrfsTer4)
c.1737del (p.Asp581ThrfsTer4)
ClinVar dbSNP
11g.47342026C>ACA474218737MYBPC3c.1755G>T (p.Val585=)
c.1737G>T (p.Val579=)
11g.47342026C>GCA474218739MYBPC3c.1755G>C (p.Val585=)
c.1737G>C (p.Val579=)
11g.47342026C>TCA474218740MYBPC3c.1755G>A (p.Val585=)
c.1737G>A (p.Val579=)
ClinVar
11g.47342027A>CCA380324223MYBPC3c.1754T>G (p.Val585Gly)
c.1736T>G (p.Val579Gly)
11g.47342027A>GCA380324224MYBPC3c.1754T>C (p.Val585Ala)
c.1736T>C (p.Val579Ala)
11g.47342027A>TCA380324225MYBPC3c.1754T>A (p.Val585Glu)
c.1736T>A (p.Val579Glu)
11g.47342028C>ACA380324226MYBPC3c.1753G>T (p.Val585Leu)
c.1735G>T (p.Val579Leu)
gnomAD v4
11g.47342028C>GCA380324227MYBPC3c.1753G>C (p.Val585Leu)
c.1735G>C (p.Val579Leu)
11g.47342028C>TCA380324228MYBPC3c.1753G>A (p.Val585Met)
c.1735G>A (p.Val579Met)
11g.47342029C>ACA474218752MYBPC3c.1752G>T (p.Leu584=)
c.1734G>T (p.Leu578=)
11g.47342029C=CA1969335311MYBPC3c.1752G= (p.Leu584=)
c.1734G= (p.Leu578=)
11g.47342029C>GCA474218754MYBPC3c.1752G>C (p.Leu584=)
c.1734G>C (p.Leu578=)
11g.47342029C>TCA474218756MYBPC3c.1752G>A (p.Leu584=)
c.1734G>A (p.Leu578=)
dbSNP

Number of alleles fetched