Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332046A=CA1969333164MYBPC3c.3814+26T= (n.3814+26T=)
c.3796+26T= (n.3796+26T=)
c.3733+26T= (n.3733+26T=)
11g.47332046A>CCA677012936MYBPC3c.3814+26T>G (n.3814+26T>G)
c.3796+26T>G (n.3796+26T>G)
c.3733+26T>G (n.3733+26T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.47332046A>GCA2723751820MYBPC3c.3814+26T>C (n.3814+26T>C)
c.3796+26T>C (n.3796+26T>C)
c.3733+26T>C (n.3733+26T>C)
 dbSNP
11g.47332049C>ACA2574815598MYBPC3c.3814+23G>T (n.3814+23G>T)
c.3796+23G>T (n.3796+23G>T)
c.3733+23G>T (n.3733+23G>T)
11g.47332049C=CA1969333165MYBPC3c.3814+23G= (n.3814+23G=)
c.3796+23G= (n.3796+23G=)
c.3733+23G= (n.3733+23G=)
11g.47332049C>TCA079561MYBPC3c.3814+23G>A (n.3814+23G>A)
c.3796+23G>A (n.3796+23G>A)
c.3733+23G>A (n.3733+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332052T=CA1969333166MYBPC3c.3814+20A= (n.3814+20A=)
c.3796+20A= (n.3796+20A=)
c.3733+20A= (n.3733+20A=)
11g.47332053G>CCA2574815602MYBPC3c.3814+19C>G (n.3814+19C>G)
c.3796+19C>G (n.3796+19C>G)
c.3733+19C>G (n.3733+19C>G)
 gnomAD v4
11g.47332054dupCA221679795MYBPC3c.3814+19dup (n.3814+19dup)
c.3796+19dup (n.3796+19dup)
c.3733+19dup (n.3733+19dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332054G>ACA2613355653MYBPC3c.3814+18C>T (n.3814+18C>T)
c.3796+18C>T (n.3796+18C>T)
c.3733+18C>T (n.3733+18C>T)
 gnomAD v4
11g.47332055C=CA1969333167MYBPC3c.3814+17G= (n.3814+17G=)
c.3796+17G= (n.3796+17G=)
c.3733+17G= (n.3733+17G=)
11g.47332055C>TCA1969333168MYBPC3c.3814+17G>A (n.3814+17G>A)
c.3796+17G>A (n.3796+17G>A)
c.3733+17G>A (n.3733+17G>A)
 dbSNP
11g.47332055_47332056delinsTTCA2739270409MYBPC3c.3814+16_3814+17delinsAA (n.3814+16_3814+17delinsAA)
c.3796+16_3796+17delinsAA (n.3796+16_3796+17delinsAA)
c.3733+16_3733+17delinsAA (n.3733+16_3733+17delinsAA)
 ClinVar
11g.47332056C=CA1969333170MYBPC3c.3814+16G= (n.3814+16G=)
c.3796+16G= (n.3796+16G=)
c.3733+16G= (n.3733+16G=)
11g.47332056C>GCA2518401337MYBPC3c.3814+16G>C (n.3814+16G>C)
c.3796+16G>C (n.3796+16G>C)
c.3733+16G>C (n.3733+16G>C)
11g.47332056C>TCA1969333171MYBPC3c.3814+16G>A (n.3814+16G>A)
c.3796+16G>A (n.3796+16G>A)
c.3733+16G>A (n.3733+16G>A)
 dbSNP
11g.47332058C=CA1969333172MYBPC3c.3814+14G= (n.3814+14G=)
c.3796+14G= (n.3796+14G=)
c.3733+14G= (n.3733+14G=)
11g.47332058C>TCA014963MYBPC3c.3814+14G>A (n.3814+14G>A)
c.3796+14G>A (n.3796+14G>A)
c.3733+14G>A (n.3733+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332059delCA2613355669MYBPC3c.3814+13del (n.3814+13del)
c.3796+13del (n.3796+13del)
c.3733+13del (n.3733+13del)
 gnomAD v4
11g.47332059G>ACA079559MYBPC3c.3814+13C>T (n.3814+13C>T)
c.3796+13C>T (n.3796+13C>T)
c.3733+13C>T (n.3733+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332059G=CA1969333175MYBPC3c.3814+13C= (n.3814+13C=)
c.3796+13C= (n.3796+13C=)
c.3733+13C= (n.3733+13C=)
11g.47332059G>TCA658797618MYBPC3c.3814+13C>A (n.3814+13C>A)
c.3796+13C>A (n.3796+13C>A)
c.3733+13C>A (n.3733+13C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332060A>CCA2613355670MYBPC3c.3814+12T>G (n.3814+12T>G)
c.3796+12T>G (n.3796+12T>G)
c.3733+12T>G (n.3733+12T>G)
 gnomAD v4
11g.47332061G>ACA937665135MYBPC3c.3814+11C>T (n.3814+11C>T)
c.3796+11C>T (n.3796+11C>T)
c.3733+11C>T (n.3733+11C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47332061G=CA1969333176MYBPC3c.3814+11C= (n.3814+11C=)
c.3796+11C= (n.3796+11C=)
c.3733+11C= (n.3733+11C=)
11g.47332062G>ACA055051MYBPC3c.3814+10C>T (n.3814+10C>T)
c.3796+10C>T (n.3796+10C>T)
c.3733+10C>T (n.3733+10C>T)
11g.47332063G=CA1969333177MYBPC3c.3814+9C= (n.3814+9C=)
c.3796+9C= (n.3796+9C=)
c.3733+9C= (n.3733+9C=)
11g.47332063G>TCA1969333178MYBPC3c.3814+9C>A (n.3814+9C>A)
c.3796+9C>A (n.3796+9C>A)
c.3733+9C>A (n.3733+9C>A)
 dbSNP gnomAD v4
11g.47332064C>ACA2613355675MYBPC3c.3814+8G>T (n.3814+8G>T)
c.3796+8G>T (n.3796+8G>T)
c.3733+8G>T (n.3733+8G>T)
 gnomAD v4
11g.47332064C=CA1969333180MYBPC3c.3814+8G= (n.3814+8G=)
c.3796+8G= (n.3796+8G=)
c.3733+8G= (n.3733+8G=)
11g.47332064C>TCA599057722MYBPC3c.3814+8G>A (n.3814+8G>A)
c.3796+8G>A (n.3796+8G>A)
c.3733+8G>A (n.3733+8G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332065T>ACA2613355677MYBPC3c.3814+7A>T (n.3814+7A>T)
c.3796+7A>T (n.3796+7A>T)
c.3733+7A>T (n.3733+7A>T)
 gnomAD v4
11g.47332065T>CCA2613355678MYBPC3c.3814+7A>G (n.3814+7A>G)
c.3796+7A>G (n.3796+7A>G)
c.3733+7A>G (n.3733+7A>G)
 gnomAD v4
11g.47332066_47332090delinsCCTCACCTCGCACCTCCAGGCGGCACA1969333181MYBPC3c.3796_3814+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
c.3778_3796+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
c.3715_3733+6delinsTGCCGCCTGGAGGTGCGAGGTGAGG
11g.47332067C>TCA2613355680MYBPC3c.3814+5G>A (n.3814+5G>A)
c.3796+5G>A (n.3796+5G>A)
c.3733+5G>A (n.3733+5G>A)
 gnomAD v4
11g.47332072_47332095delCA599057723MYBPC3c.3796_3814+5del
c.3778_3796+5del
c.3715_3733+5del
 dbSNP gnomAD v2 gnomAD v4
11g.47332069C>TCA2739270410MYBPC3c.3814+3G>A (n.3814+3G>A)
c.3796+3G>A (n.3796+3G>A)
c.3733+3G>A (n.3733+3G>A)
 ClinVar
11g.47332070A=CA1969333183MYBPC3c.3814+2T= (n.3814+2T=)
c.3796+2T= (n.3796+2T=)
c.3733+2T= (n.3733+2T=)
11g.47332070A>CCA380309516MYBPC3c.3814+2T>G (n.3814+2T>G)
c.3796+2T>G (n.3796+2T>G)
c.3733+2T>G (n.3733+2T>G)
11g.47332070A>GCA352023MYBPC3c.3814+2T>C (n.3814+2T>C)
c.3796+2T>C (n.3796+2T>C)
c.3733+2T>C (n.3733+2T>C)
 ClinVar dbSNP
11g.47332070A>TCA380309520MYBPC3c.3814+2T>A (n.3814+2T>A)
c.3796+2T>A (n.3796+2T>A)
c.3733+2T>A (n.3733+2T>A)
11g.47332071C>ACA380309525MYBPC3c.3814+1G>T (n.3814+1G>T)
c.3796+1G>T (n.3796+1G>T)
c.3733+1G>T (n.3733+1G>T)
 gnomAD v4
11g.47332071C=CA1969333186MYBPC3c.3814+1G= (n.3814+1G=)
c.3796+1G= (n.3796+1G=)
c.3733+1G= (n.3733+1G=)
11g.47332071C>GCA380309526MYBPC3c.3814+1G>C (n.3814+1G>C)
c.3796+1G>C (n.3796+1G>C)
c.3733+1G>C (n.3733+1G>C)
 ClinVar dbSNP
11g.47332071C>TCA16606935MYBPC3c.3814+1G>A (n.3814+1G>A)
c.3796+1G>A (n.3796+1G>A)
c.3733+1G>A (n.3733+1G>A)
 ClinVar dbSNP
11g.47332072C>ACA380309530MYBPC3c.3814G>T (p.Val1272Leu)
c.3796G>T (p.Val1266Leu)
c.3733G>T (p.Val1245Leu)
11g.47332072C=CA1969333188MYBPC3c.3814G= (p.Val1272=)
c.3796G= (p.Val1266=)
c.3733G= (p.Val1245=)
11g.47332072C>GCA380309540MYBPC3c.3814G>C (p.Val1272Leu)
c.3796G>C (p.Val1266Leu)
c.3733G>C (p.Val1245Leu)
 ClinVar dbSNP
11g.47332072C>TCA014972MYBPC3c.3814G>A (p.Val1272Met)
c.3796G>A (p.Val1266Met)
c.3733G>A (p.Val1245Met)
 ClinVar dbSNP
11g.47332073T>ACA474211875MYBPC3c.3813A>T (p.Arg1271=)
c.3795A>T (p.Arg1265=)
c.3732A>T (p.Arg1244=)
11g.47332073T>CCA079557MYBPC3c.3813A>G (p.Arg1271=)
c.3795A>G (p.Arg1265=)
c.3732A>G (p.Arg1244=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332073T>GCA474211877MYBPC3c.3813A>C (p.Arg1271=)
c.3795A>C (p.Arg1265=)
c.3732A>C (p.Arg1244=)
11g.47332073T=CA1969333189MYBPC3c.3813A= (p.Arg1271=)
c.3795A= (p.Arg1265=)
c.3732A= (p.Arg1244=)
11g.47332074C>ACA380310354MYBPC3c.3812G>T (p.Arg1271Leu)
c.3794G>T (p.Arg1265Leu)
c.3731G>T (p.Arg1244Leu)
11g.47332074C=CA1969333191MYBPC3c.3812G= (p.Arg1271=)
c.3794G= (p.Arg1265=)
c.3731G= (p.Arg1244=)
11g.47332074C>GCA380310358MYBPC3c.3812G>C (p.Arg1271Pro)
c.3794G>C (p.Arg1265Pro)
c.3731G>C (p.Arg1244Pro)
 ClinVar dbSNP gnomAD v4
11g.47332074C>TCA079555MYBPC3c.3812G>A (p.Arg1271Gln)
c.3794G>A (p.Arg1265Gln)
c.3731G>A (p.Arg1244Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332076_47332099delCA2739291456MYBPC3c.3789_3812del (p.Cys1264_Arg1271del)
c.3771_3794del (p.Cys1258_Arg1265del)
c.3708_3731del (p.Cys1237_Arg1244del)
11g.47332075G>ACA014956MYBPC3c.3811C>T (p.Arg1271Ter)
c.3793C>T (p.Arg1265Ter)
c.3730C>T (p.Arg1244Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47332075G>CCA380310369MYBPC3c.3811C>G (p.Arg1271Gly)
c.3793C>G (p.Arg1265Gly)
c.3730C>G (p.Arg1244Gly)
11g.47332075G=CA1969333194MYBPC3c.3811C= (p.Arg1271=)
c.3793C= (p.Arg1265=)
c.3730C= (p.Arg1244=)
11g.47332075G>TCA474428809MYBPC3c.3811C>A (p.Arg1271=)
c.3793C>A (p.Arg1265=)
c.3730C>A (p.Arg1244=)
11g.47332076C>ACA474428811MYBPC3c.3810G>T (p.Val1270=)
c.3792G>T (p.Val1264=)
c.3729G>T (p.Val1243=)
 ClinVar
11g.47332076C=CA1969333197MYBPC3c.3810G= (p.Val1270=)
c.3792G= (p.Val1264=)
c.3729G= (p.Val1243=)
11g.47332076C>GCA474428812MYBPC3c.3810G>C (p.Val1270=)
c.3792G>C (p.Val1264=)
c.3729G>C (p.Val1243=)
11g.47332076C>TCA474428810MYBPC3c.3810G>A (p.Val1270=)
c.3792G>A (p.Val1264=)
c.3729G>A (p.Val1243=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332077A=CA1969333199MYBPC3c.3809T= (p.Val1270=)
c.3791T= (p.Val1264=)
c.3728T= (p.Val1243=)
11g.47332077A>CCA16619329MYBPC3c.3809T>G (p.Val1270Gly)
c.3791T>G (p.Val1264Gly)
c.3728T>G (p.Val1243Gly)
 ClinVar dbSNP
11g.47332077A>GCA380310376MYBPC3c.3809T>C (p.Val1270Ala)
c.3791T>C (p.Val1264Ala)
c.3728T>C (p.Val1243Ala)
 ClinVar
11g.47332077A>TCA380310378MYBPC3c.3809T>A (p.Val1270Glu)
c.3791T>A (p.Val1264Glu)
c.3728T>A (p.Val1243Glu)
11g.47332078C>ACA16619330MYBPC3c.3808G>T (p.Val1270Leu)
c.3790G>T (p.Val1264Leu)
c.3727G>T (p.Val1243Leu)
 ClinVar dbSNP gnomAD v4
11g.47332078C=CA1969333203MYBPC3c.3808G= (p.Val1270=)
c.3790G= (p.Val1264=)
c.3727G= (p.Val1243=)
11g.47332078C>GCA380310385MYBPC3c.3808G>C (p.Val1270Leu)
c.3790G>C (p.Val1264Leu)
c.3727G>C (p.Val1243Leu)
11g.47332078C>TCA380310387MYBPC3c.3808G>A (p.Val1270Met)
c.3790G>A (p.Val1264Met)
c.3727G>A (p.Val1243Met)
 ClinVar dbSNP gnomAD v4
11g.47332079C>ACA380310391MYBPC3c.3807G>T (p.Glu1269Asp)
c.3789G>T (p.Glu1263Asp)
c.3726G>T (p.Glu1242Asp)
11g.47332079C>GCA380310394MYBPC3c.3807G>C (p.Glu1269Asp)
c.3789G>C (p.Glu1263Asp)
c.3726G>C (p.Glu1242Asp)
 gnomAD v4
11g.47332079C>TCA474428813MYBPC3c.3807G>A (p.Glu1269=)
c.3789G>A (p.Glu1263=)
c.3726G>A (p.Glu1242=)
 gnomAD v4
11g.47332080T>ACA380310398MYBPC3c.3806A>T (p.Glu1269Val)
c.3788A>T (p.Glu1263Val)
c.3725A>T (p.Glu1242Val)
11g.47332080T>CCA380310403MYBPC3c.3806A>G (p.Glu1269Gly)
c.3788A>G (p.Glu1263Gly)
c.3725A>G (p.Glu1242Gly)
11g.47332080T>GCA380310401MYBPC3c.3806A>C (p.Glu1269Ala)
c.3788A>C (p.Glu1263Ala)
c.3725A>C (p.Glu1242Ala)
11g.47332081C>ACA380310407MYBPC3c.3805G>T (p.Glu1269Ter)
c.3787G>T (p.Glu1263Ter)
c.3724G>T (p.Glu1242Ter)
 ClinVar
11g.47332081C>GCA380310409MYBPC3c.3805G>C (p.Glu1269Gln)
c.3787G>C (p.Glu1263Gln)
c.3724G>C (p.Glu1242Gln)
11g.47332081C>TCA380310412MYBPC3c.3805G>A (p.Glu1269Lys)
c.3787G>A (p.Glu1263Lys)
c.3724G>A (p.Glu1242Lys)
 gnomAD v4
11g.47332082C>ACA474428814MYBPC3c.3804G>T (p.Leu1268=)
c.3786G>T (p.Leu1262=)
c.3723G>T (p.Leu1241=)
11g.47332082C>GCA474428815MYBPC3c.3804G>C (p.Leu1268=)
c.3786G>C (p.Leu1262=)
c.3723G>C (p.Leu1241=)
11g.47332082C>TCA474428816MYBPC3c.3804G>A (p.Leu1268=)
c.3786G>A (p.Leu1262=)
c.3723G>A (p.Leu1241=)
11g.47332083A=CA1969333205MYBPC3c.3803T= (p.Leu1268=)
c.3785T= (p.Leu1262=)
c.3722T= (p.Leu1241=)
11g.47332083A>CCA380310416MYBPC3c.3803T>G (p.Leu1268Arg)
c.3785T>G (p.Leu1262Arg)
c.3722T>G (p.Leu1241Arg)
11g.47332083A>GCA014947MYBPC3c.3803T>C (p.Leu1268Pro)
c.3785T>C (p.Leu1262Pro)
c.3722T>C (p.Leu1241Pro)
 ClinVar dbSNP
11g.47332083A>TCA380310419MYBPC3c.3803T>A (p.Leu1268Gln)
c.3785T>A (p.Leu1262Gln)
c.3722T>A (p.Leu1241Gln)
11g.47332083_47332086delinsAGGCCA1969333204MYBPC3c.3800_3803delinsGCCT (p.Arg1267=)
c.3782_3785delinsGCCT (p.Arg1261=)
c.3719_3722delinsGCCT (p.Arg1240=)
11g.47332084G>ACA474428817MYBPC3c.3802C>T (p.Leu1268=)
c.3784C>T (p.Leu1262=)
c.3721C>T (p.Leu1241=)
11g.47332084G>CCA380310421MYBPC3c.3802C>G (p.Leu1268Val)
c.3784C>G (p.Leu1262Val)
c.3721C>G (p.Leu1241Val)
 ClinVar dbSNP
11g.47332084G=CA1969333209MYBPC3c.3802C= (p.Leu1268=)
c.3784C= (p.Leu1262=)
c.3721C= (p.Leu1241=)
11g.47332084G>TCA380310424MYBPC3c.3802C>A (p.Leu1268Met)
c.3784C>A (p.Leu1262Met)
c.3721C>A (p.Leu1241Met)
11g.47332087_47332089delCA014933MYBPC3c.3800_3802del (p.Arg1267del)
c.3782_3784del (p.Arg1261del)
c.3719_3721del (p.Arg1240del)
 ClinVar dbSNP gnomAD v4
11g.47332085G>ACA079552MYBPC3c.3801C>T (p.Arg1267=)
c.3783C>T (p.Arg1261=)
c.3720C>T (p.Arg1240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332085G>CCA474428818MYBPC3c.3801C>G (p.Arg1267=)
c.3783C>G (p.Arg1261=)
c.3720C>G (p.Arg1240=)
11g.47332085G=CA1969333211MYBPC3c.3801C= (p.Arg1267=)
c.3783C= (p.Arg1261=)
c.3720C= (p.Arg1240=)
11g.47332085G>TCA474428819MYBPC3c.3801C>A (p.Arg1267=)
c.3783C>A (p.Arg1261=)
c.3720C>A (p.Arg1240=)
 dbSNP gnomAD v2 gnomAD v4
11g.47332086C>ACA380310432MYBPC3c.3800G>T (p.Arg1267Leu)
c.3782G>T (p.Arg1261Leu)
c.3719G>T (p.Arg1240Leu)
11g.47332086C=CA1969333213MYBPC3c.3800G= (p.Arg1267=)
c.3782G= (p.Arg1261=)
c.3719G= (p.Arg1240=)
11g.47332086C>GCA380310434MYBPC3c.3800G>C (p.Arg1267Pro)
c.3782G>C (p.Arg1261Pro)
c.3719G>C (p.Arg1240Pro)
 gnomAD v4
11g.47332086C>TCA014937MYBPC3c.3800G>A (p.Arg1267His)
c.3782G>A (p.Arg1261His)
c.3719G>A (p.Arg1240His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332086_47332087delinsCGCA1969333214MYBPC3c.3799_3800delinsCG (p.Arg1267=)
c.3781_3782delinsCG (p.Arg1261=)
c.3718_3719delinsCG (p.Arg1240=)
11g.47332087G>ACA079549MYBPC3c.3799C>T (p.Arg1267Cys)
c.3781C>T (p.Arg1261Cys)
c.3718C>T (p.Arg1240Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332087G>CCA380310441MYBPC3c.3799C>G (p.Arg1267Gly)
c.3781C>G (p.Arg1261Gly)
c.3718C>G (p.Arg1240Gly)
 ClinVar
11g.47332087G=CA1969333217MYBPC3c.3799C= (p.Arg1267=)
c.3781C= (p.Arg1261=)
c.3718C= (p.Arg1240=)
11g.47332087G>TCA380310438MYBPC3c.3799C>A (p.Arg1267Ser)
c.3781C>A (p.Arg1261Ser)
c.3718C>A (p.Arg1240Ser)
11g.47332088delCA915948127MYBPC3c.3799del (p.Arg1267AlafsTer?)
c.3781del (p.Arg1261AlafsTer?)
c.3718del (p.Arg1240AlafsTer?)
 ClinVar dbSNP
11g.47332088G>ACA055003MYBPC3c.3798C>T (p.Cys1266=)
c.3780C>T (p.Cys1260=)
c.3717C>T (p.Cys1239=)
 ClinVar
11g.47332088G>CCA380310448MYBPC3c.3798C>G (p.Cys1266Trp)
c.3780C>G (p.Cys1260Trp)
c.3717C>G (p.Cys1239Trp)
 ClinVar dbSNP gnomAD v4
11g.47332088G=CA1969333219MYBPC3c.3798C= (p.Cys1266=)
c.3780C= (p.Cys1260=)
c.3717C= (p.Cys1239=)
11g.47332088G>TCA380310449MYBPC3c.3798C>A (p.Cys1266Ter)
c.3780C>A (p.Cys1260Ter)
c.3717C>A (p.Cys1239Ter)
11g.47332089delCA2739291457MYBPC3c.3797del (p.Cys1266SerfsTer?)
c.3779del (p.Cys1260SerfsTer?)
c.3716del (p.Cys1239SerfsTer?)
11g.47332089C>ACA380310450MYBPC3c.3797G>T (p.Cys1266Phe)
c.3779G>T (p.Cys1260Phe)
c.3716G>T (p.Cys1239Phe)
 ClinVar
11g.47332089C=CA1969333220MYBPC3c.3797G= (p.Cys1266=)
c.3779G= (p.Cys1260=)
c.3716G= (p.Cys1239=)
11g.47332089C>GCA380310453MYBPC3c.3797G>C (p.Cys1266Ser)
c.3779G>C (p.Cys1260Ser)
c.3716G>C (p.Cys1239Ser)
11g.47332089C>TCA014925MYBPC3c.3797G>A (p.Cys1266Tyr)
c.3779G>A (p.Cys1260Tyr)
c.3716G>A (p.Cys1239Tyr)
 ClinVar dbSNP
11g.47332090A=CA1969333224MYBPC3c.3796T= (p.Cys1266=)
c.3778T= (p.Cys1260=)
c.3715T= (p.Cys1239=)
11g.47332090A>CCA380310460MYBPC3c.3796T>G (p.Cys1266Gly)
c.3778T>G (p.Cys1260Gly)
c.3715T>G (p.Cys1239Gly)
11g.47332090A>GCA014917MYBPC3c.3796T>C (p.Cys1266Arg)
c.3778T>C (p.Cys1260Arg)
c.3715T>C (p.Cys1239Arg)
 ClinVar dbSNP
11g.47332090A>TCA380310464MYBPC3c.3796T>A (p.Cys1266Ser)
c.3778T>A (p.Cys1260Ser)
c.3715T>A (p.Cys1239Ser)
11g.47332090_47332092delinsACTCA1969333223MYBPC3c.3794_3796delinsAGT (p.Glu1265=)
c.3776_3778delinsAGT (p.Glu1259=)
c.3713_3715delinsAGT (p.Glu1238=)
11g.47332090_47332092delinsGCACA1139659379MYBPC3c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg)
c.3776_3778delinsTGC (p.Glu1259_Cys1260delinsValArg)
c.3713_3715delinsTGC (p.Glu1238_Cys1239delinsValArg)
 ClinVar dbSNP
11g.47332091C>ACA380310468MYBPC3c.3795G>T (p.Glu1265Asp)
c.3777G>T (p.Glu1259Asp)
c.3714G>T (p.Glu1238Asp)
11g.47332091C>GCA380310469MYBPC3c.3795G>C (p.Glu1265Asp)
c.3777G>C (p.Glu1259Asp)
c.3714G>C (p.Glu1238Asp)
11g.47332091C>TCA474428820MYBPC3c.3795G>A (p.Glu1265=)
c.3777G>A (p.Glu1259=)
c.3714G>A (p.Glu1238=)
 gnomAD v4
11g.47332092T>ACA014911MYBPC3c.3794A>T (p.Glu1265Val)
c.3776A>T (p.Glu1259Val)
c.3713A>T (p.Glu1238Val)
 ClinVar dbSNP
11g.47332092T>CCA380310475MYBPC3c.3794A>G (p.Glu1265Gly)
c.3776A>G (p.Glu1259Gly)
c.3713A>G (p.Glu1238Gly)
11g.47332092T>GCA380310478MYBPC3c.3794A>C (p.Glu1265Ala)
c.3776A>C (p.Glu1259Ala)
c.3713A>C (p.Glu1238Ala)
11g.47332092T=CA1969333226MYBPC3c.3794A= (p.Glu1265=)
c.3776A= (p.Glu1259=)
c.3713A= (p.Glu1238=)
11g.47332093C>ACA380310484MYBPC3c.3793G>T (p.Glu1265Ter)
c.3775G>T (p.Glu1259Ter)
c.3712G>T (p.Glu1238Ter)
11g.47332093C=CA1969333228MYBPC3c.3793G= (p.Glu1265=)
c.3775G= (p.Glu1259=)
c.3712G= (p.Glu1238=)
11g.47332093C>GCA380310483MYBPC3c.3793G>C (p.Glu1265Gln)
c.3775G>C (p.Glu1259Gln)
c.3712G>C (p.Glu1238Gln)
11g.47332093C>TCA079547MYBPC3c.3793G>A (p.Glu1265Lys)
c.3775G>A (p.Glu1259Lys)
c.3712G>A (p.Glu1238Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332096_47332097delCA645369136MYBPC3c.3792_3793del (p.Cys1264Ter)
c.3774_3775del (p.Cys1258Ter)
c.3711_3712del (p.Cys1237Ter)
11g.47332093_47332104delinsCACACCGTGCCTCA1969333230MYBPC3c.3782_3793delinsAGGCACGGTGTG (p.Glu1261=)
c.3764_3775delinsAGGCACGGTGTG (p.Glu1255=)
c.3701_3712delinsAGGCACGGTGTG (p.Glu1234=)
11g.47332094A>CCA380310487MYBPC3c.3792T>G (p.Cys1264Trp)
c.3774T>G (p.Cys1258Trp)
c.3711T>G (p.Cys1237Trp)
11g.47332094A>GCA474428821MYBPC3c.3792T>C (p.Cys1264=)
c.3774T>C (p.Cys1258=)
c.3711T>C (p.Cys1237=)
11g.47332094A>TCA380310489MYBPC3c.3792T>A (p.Cys1264Ter)
c.3774T>A (p.Cys1258Ter)
c.3711T>A (p.Cys1237Ter)
11g.47332094_47332104delinsCAGGCA645294065MYBPC3c.3782_3792delinsCCTG (p.Glu1261AlafsTer?)
c.3764_3774delinsCCTG (p.Glu1255AlafsTer?)
c.3701_3711delinsCCTG (p.Glu1234AlafsTer?)
 ClinVar dbSNP
11g.47332095C>ACA014908MYBPC3c.3791G>T (p.Cys1264Phe)
c.3773G>T (p.Cys1258Phe)
c.3710G>T (p.Cys1237Phe)
 ClinVar dbSNP
11g.47332095C=CA1969333235MYBPC3c.3791G= (p.Cys1264=)
c.3773G= (p.Cys1258=)
c.3710G= (p.Cys1237=)
11g.47332095C>GCA380310495MYBPC3c.3791G>C (p.Cys1264Ser)
c.3773G>C (p.Cys1258Ser)
c.3710G>C (p.Cys1237Ser)
11g.47332095C>TCA014899MYBPC3c.3791G>A (p.Cys1264Tyr)
c.3773G>A (p.Cys1258Tyr)
c.3710G>A (p.Cys1237Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332096A>CCA380310500MYBPC3c.3790T>G (p.Cys1264Gly)
c.3772T>G (p.Cys1258Gly)
c.3709T>G (p.Cys1237Gly)
11g.47332096A>GCA380310502MYBPC3c.3790T>C (p.Cys1264Arg)
c.3772T>C (p.Cys1258Arg)
c.3709T>C (p.Cys1237Arg)
 ClinVar dbSNP gnomAD v4
11g.47332096A>TCA380310505MYBPC3c.3790T>A (p.Cys1264Ser)
c.3772T>A (p.Cys1258Ser)
c.3709T>A (p.Cys1237Ser)
11g.47332097C>ACA474428822MYBPC3c.3789G>T (p.Arg1263=)
c.3771G>T (p.Arg1257=)
c.3708G>T (p.Arg1236=)
 gnomAD v4
11g.47332097C>GCA474428824MYBPC3c.3789G>C (p.Arg1263=)
c.3771G>C (p.Arg1257=)
c.3708G>C (p.Arg1236=)
11g.47332097C>TCA474428823MYBPC3c.3789G>A (p.Arg1263=)
c.3771G>A (p.Arg1257=)
c.3708G>A (p.Arg1236=)
 ClinVar
11g.47332098C>ACA380310507MYBPC3c.3788G>T (p.Arg1263Leu)
c.3770G>T (p.Arg1257Leu)
c.3707G>T (p.Arg1236Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332098C=CA1969333243MYBPC3c.3788G= (p.Arg1263=)
c.3770G= (p.Arg1257=)
c.3707G= (p.Arg1236=)
11g.47332098C>GCA380310509MYBPC3c.3788G>C (p.Arg1263Pro)
c.3770G>C (p.Arg1257Pro)
c.3707G>C (p.Arg1236Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47332098C>TCA054961MYBPC3c.3788G>A (p.Arg1263Gln)
c.3770G>A (p.Arg1257Gln)
c.3707G>A (p.Arg1236Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332099delCA2580084168MYBPC3c.3787del (p.Arg1263GlyfsTer?)
c.3769del (p.Arg1257GlyfsTer?)
c.3706del (p.Arg1236GlyfsTer?)
 ClinVar
11g.47332099G>ACA014891MYBPC3c.3787C>T (p.Arg1263Trp)
c.3769C>T (p.Arg1257Trp)
c.3706C>T (p.Arg1236Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332099G>CCA380310515MYBPC3c.3787C>G (p.Arg1263Gly)
c.3769C>G (p.Arg1257Gly)
c.3706C>G (p.Arg1236Gly)
11g.47332099G=CA1969333251MYBPC3c.3787C= (p.Arg1263=)
c.3769C= (p.Arg1257=)
c.3706C= (p.Arg1236=)
11g.47332099G>TCA474428825MYBPC3c.3787C>A (p.Arg1263=)
c.3769C>A (p.Arg1257=)
c.3706C>A (p.Arg1236=)
11g.47332100T>ACA474428826MYBPC3c.3786A>T (p.Ala1262=)
c.3768A>T (p.Ala1256=)
c.3705A>T (p.Ala1235=)
11g.47332100T>CCA474428827MYBPC3c.3786A>G (p.Ala1262=)
c.3768A>G (p.Ala1256=)
c.3705A>G (p.Ala1235=)
11g.47332100T>GCA474428828MYBPC3c.3786A>C (p.Ala1262=)
c.3768A>C (p.Ala1256=)
c.3705A>C (p.Ala1235=)
11g.47332101G>ACA380310523MYBPC3c.3785C>T (p.Ala1262Val)
c.3767C>T (p.Ala1256Val)
c.3704C>T (p.Ala1235Val)
 ClinVar dbSNP
11g.47332101G>CCA380310519MYBPC3c.3785C>G (p.Ala1262Gly)
c.3767C>G (p.Ala1256Gly)
c.3704C>G (p.Ala1235Gly)
11g.47332101G=CA1969333255MYBPC3c.3785C= (p.Ala1262=)
c.3767C= (p.Ala1256=)
c.3704C= (p.Ala1235=)
11g.47332101G>TCA380310521MYBPC3c.3785C>A (p.Ala1262Glu)
c.3767C>A (p.Ala1256Glu)
c.3704C>A (p.Ala1235Glu)
11g.47332104_47332108delCA2695213890MYBPC3c.3781_3785del (p.Glu1261ThrfsTer3)
c.3763_3767del (p.Glu1255ThrfsTer3)
c.3700_3704del (p.Glu1234ThrfsTer3)
11g.47332102C>ACA380310528MYBPC3c.3784G>T (p.Ala1262Ser)
c.3766G>T (p.Ala1256Ser)
c.3703G>T (p.Ala1235Ser)
11g.47332102C>GCA380310529MYBPC3c.3784G>C (p.Ala1262Pro)
c.3766G>C (p.Ala1256Pro)
c.3703G>C (p.Ala1235Pro)
11g.47332102C>TCA380310530MYBPC3c.3784G>A (p.Ala1262Thr)
c.3766G>A (p.Ala1256Thr)
c.3703G>A (p.Ala1235Thr)
 ClinVar gnomAD v4 COSMIC COSMIC
11g.47332103_47332105dupCA2580615672MYBPC3c.3782_3784dup (p.Glu1261_Ala1262insGlu)
c.3764_3766dup (p.Glu1255_Ala1256insGlu)
c.3701_3703dup (p.Glu1234_Ala1235insGlu)
 ClinVar
11g.47332103C>ACA380310533MYBPC3c.3783G>T (p.Glu1261Asp)
c.3765G>T (p.Glu1255Asp)
c.3702G>T (p.Glu1234Asp)
11g.47332103C=CA1969333260MYBPC3c.3783G= (p.Glu1261=)
c.3765G= (p.Glu1255=)
c.3702G= (p.Glu1234=)
11g.47332103C>GCA380310536MYBPC3c.3783G>C (p.Glu1261Asp)
c.3765G>C (p.Glu1255Asp)
c.3702G>C (p.Glu1234Asp)
11g.47332103C>TCA221681738MYBPC3c.3783G>A (p.Glu1261=)
c.3765G>A (p.Glu1255=)
c.3702G>A (p.Glu1234=)
 ClinVar dbSNP
11g.47332104T>ACA380310540MYBPC3c.3782A>T (p.Glu1261Val)
c.3764A>T (p.Glu1255Val)
c.3701A>T (p.Glu1234Val)
11g.47332104T>CCA380310543MYBPC3c.3782A>G (p.Glu1261Gly)
c.3764A>G (p.Glu1255Gly)
c.3701A>G (p.Glu1234Gly)
11g.47332104T>GCA380310555MYBPC3c.3782A>C (p.Glu1261Ala)
c.3764A>C (p.Glu1255Ala)
c.3701A>C (p.Glu1234Ala)
11g.47332105C>ACA380310562MYBPC3c.3781G>T (p.Glu1261Ter)
c.3763G>T (p.Glu1255Ter)
c.3700G>T (p.Glu1234Ter)
 ClinVar dbSNP
11g.47332105C=CA1969333265MYBPC3c.3781G= (p.Glu1261=)
c.3763G= (p.Glu1255=)
c.3700G= (p.Glu1234=)
11g.47332105C>GCA380310565MYBPC3c.3781G>C (p.Glu1261Gln)
c.3763G>C (p.Glu1255Gln)
c.3700G>C (p.Glu1234Gln)
 ClinVar dbSNP gnomAD v4
11g.47332105C>TCA014880MYBPC3c.3781G>A (p.Glu1261Lys)
c.3763G>A (p.Glu1255Lys)
c.3700G>A (p.Glu1234Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>ACA079541MYBPC3c.3780C>T (p.Gly1260=)
c.3762C>T (p.Gly1254=)
c.3699C>T (p.Gly1233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332106G>CCA474428829MYBPC3c.3780C>G (p.Gly1260=)
c.3762C>G (p.Gly1254=)
c.3699C>G (p.Gly1233=)
11g.47332106G=CA1969333277MYBPC3c.3780C= (p.Gly1260=)
c.3762C= (p.Gly1254=)
c.3699C= (p.Gly1233=)
11g.47332106G>TCA474428830MYBPC3c.3780C>A (p.Gly1260=)
c.3762C>A (p.Gly1254=)
c.3699C>A (p.Gly1233=)
11g.47332107C>ACA380310574MYBPC3c.3779G>T (p.Gly1260Val)
c.3761G>T (p.Gly1254Val)
c.3698G>T (p.Gly1233Val)
11g.47332107C=CA1969333283MYBPC3c.3779G= (p.Gly1260=)
c.3761G= (p.Gly1254=)
c.3698G= (p.Gly1233=)
11g.47332107C>GCA380310587MYBPC3c.3779G>C (p.Gly1260Ala)
c.3761G>C (p.Gly1254Ala)
c.3698G>C (p.Gly1233Ala)
11g.47332107C>TCA014871MYBPC3c.3779G>A (p.Gly1260Asp)
c.3761G>A (p.Gly1254Asp)
c.3698G>A (p.Gly1233Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332109delCA2580084169MYBPC3c.3779del (p.Gly1260AlafsTer?)
c.3761del (p.Gly1254AlafsTer?)
c.3698del (p.Gly1233AlafsTer?)
 ClinVar
11g.47332108C>ACA380310592MYBPC3c.3778G>T (p.Gly1260Cys)
c.3760G>T (p.Gly1254Cys)
c.3697G>T (p.Gly1233Cys)
11g.47332108C=CA1969333290MYBPC3c.3778G= (p.Gly1260=)
c.3760G= (p.Gly1254=)
c.3697G= (p.Gly1233=)
11g.47332108C>GCA380310595MYBPC3c.3778G>C (p.Gly1260Arg)
c.3760G>C (p.Gly1254Arg)
c.3697G>C (p.Gly1233Arg)
 ClinVar dbSNP gnomAD v4
11g.47332108C>TCA054928MYBPC3c.3778G>A (p.Gly1260Ser)
c.3760G>A (p.Gly1254Ser)
c.3697G>A (p.Gly1233Ser)
 ClinVar gnomAD v4
11g.47332109C>ACA380310605MYBPC3c.3777G>T (p.Gln1259His)
c.3759G>T (p.Gln1253His)
c.3696G>T (p.Gln1232His)
11g.47332109C=CA1969333302MYBPC3c.3777G= (p.Gln1259=)
c.3759G= (p.Gln1253=)
c.3696G= (p.Gln1232=)
11g.47332109C>GCA079539MYBPC3c.3777G>C (p.Gln1259His)
c.3759G>C (p.Gln1253His)
c.3696G>C (p.Gln1232His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332109C>TCA079537MYBPC3c.3777G>A (p.Gln1259=)
c.3759G>A (p.Gln1253=)
c.3696G>A (p.Gln1232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332109_47332110delinsCTCA1969333300MYBPC3c.3776_3777delinsAG (p.Gln1259=)
c.3758_3759delinsAG (p.Gln1253=)
c.3695_3696delinsAG (p.Gln1232=)
11g.47332110delCA014863MYBPC3c.3776del (p.Gln1259ArgfsTer?)
c.3758del (p.Gln1253ArgfsTer?)
c.3695del (p.Gln1232ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332110T>ACA380310621MYBPC3c.3776A>T (p.Gln1259Leu)
c.3758A>T (p.Gln1253Leu)
c.3695A>T (p.Gln1232Leu)
11g.47332110T>CCA380310618MYBPC3c.3776A>G (p.Gln1259Arg)
c.3758A>G (p.Gln1253Arg)
c.3695A>G (p.Gln1232Arg)
11g.47332110T>GCA380310614MYBPC3c.3776A>C (p.Gln1259Pro)
c.3758A>C (p.Gln1253Pro)
c.3695A>C (p.Gln1232Pro)
11g.47332111G>ACA014855MYBPC3c.3775C>T (p.Gln1259Ter)
c.3757C>T (p.Gln1253Ter)
c.3694C>T (p.Gln1232Ter)
 ClinVar dbSNP gnomAD v4
11g.47332111G>CCA380310639MYBPC3c.3775C>G (p.Gln1259Glu)
c.3757C>G (p.Gln1253Glu)
c.3694C>G (p.Gln1232Glu)
11g.47332111G=CA1969333316MYBPC3c.3775C= (p.Gln1259=)
c.3757C= (p.Gln1253=)
c.3694C= (p.Gln1232=)
11g.47332111G>TCA380310643MYBPC3c.3775C>A (p.Gln1259Lys)
c.3757C>A (p.Gln1253Lys)
c.3694C>A (p.Gln1232Lys)
 gnomAD v4
11g.47332112T>ACA380310647MYBPC3c.3774A>T (p.Leu1258Phe)
c.3756A>T (p.Leu1252Phe)
c.3693A>T (p.Leu1231Phe)
11g.47332112T>CCA474428831MYBPC3c.3774A>G (p.Leu1258=)
c.3756A>G (p.Leu1252=)
c.3693A>G (p.Leu1231=)
 dbSNP
11g.47332112T>GCA380310655MYBPC3c.3774A>C (p.Leu1258Phe)
c.3756A>C (p.Leu1252Phe)
c.3693A>C (p.Leu1231Phe)
11g.47332112T=CA1969333319MYBPC3c.3774A= (p.Leu1258=)
c.3756A= (p.Leu1252=)
c.3693A= (p.Leu1231=)
11g.47332113A=CA1969333325MYBPC3c.3773T= (p.Leu1258=)
c.3755T= (p.Leu1252=)
c.3692T= (p.Leu1231=)
11g.47332113A>CCA014846MYBPC3c.3773T>G (p.Leu1258Ter)
c.3755T>G (p.Leu1252Ter)
c.3692T>G (p.Leu1231Ter)
 ClinVar dbSNP gnomAD v4
11g.47332113A>GCA380310666MYBPC3c.3773T>C (p.Leu1258Ser)
c.3755T>C (p.Leu1252Ser)
c.3692T>C (p.Leu1231Ser)
 ClinVar dbSNP
11g.47332113A>TCA380310661MYBPC3c.3773T>A (p.Leu1258Ter)
c.3755T>A (p.Leu1252Ter)
c.3692T>A (p.Leu1231Ter)
 ClinVar dbSNP
11g.47332114A>CCA380310669MYBPC3c.3772T>G (p.Leu1258Val)
c.3754T>G (p.Leu1252Val)
c.3691T>G (p.Leu1231Val)
11g.47332114A>GCA474428832MYBPC3c.3772T>C (p.Leu1258=)
c.3754T>C (p.Leu1252=)
c.3691T>C (p.Leu1231=)
11g.47332114A>TCA380310672MYBPC3c.3772T>A (p.Leu1258Ile)
c.3754T>A (p.Leu1252Ile)
c.3691T>A (p.Leu1231Ile)
11g.47332115G>ACA474428833MYBPC3c.3771C>T (p.Asn1257=)
c.3753C>T (p.Asn1251=)
c.3690C>T (p.Asn1230=)
 gnomAD v4
11g.47332115G>CCA380310675MYBPC3c.3771C>G (p.Asn1257Lys)
c.3753C>G (p.Asn1251Lys)
c.3690C>G (p.Asn1230Lys)
11g.47332115G=CA1969333334MYBPC3c.3771C= (p.Asn1257=)
c.3753C= (p.Asn1251=)
c.3690C= (p.Asn1230=)
11g.47332115G>TCA014838MYBPC3c.3771C>A (p.Asn1257Lys)
c.3753C>A (p.Asn1251Lys)
c.3690C>A (p.Asn1230Lys)
 ClinVar dbSNP
11g.47332117_47332120delCA2573146355MYBPC3c.3768_3771del (p.Asn1257TyrfsTer?)
c.3750_3753del (p.Asn1251TyrfsTer?)
c.3687_3690del (p.Asn1230TyrfsTer?)
 ClinVar dbSNP
11g.47332116T>ACA380310683MYBPC3c.3770A>T (p.Asn1257Ile)
c.3752A>T (p.Asn1251Ile)
c.3689A>T (p.Asn1230Ile)
11g.47332116T>CCA380310685MYBPC3c.3770A>G (p.Asn1257Ser)
c.3752A>G (p.Asn1251Ser)
c.3689A>G (p.Asn1230Ser)
 ClinVar dbSNP COSMIC COSMIC
11g.47332116T>GCA380310687MYBPC3c.3770A>C (p.Asn1257Thr)
c.3752A>C (p.Asn1251Thr)
c.3689A>C (p.Asn1230Thr)
11g.47332116_47332119delinsTTGGCA1969333340MYBPC3c.3767_3770delinsCCAA (p.Thr1256=)
c.3749_3752delinsCCAA (p.Thr1250=)
c.3686_3689delinsCCAA (p.Thr1229=)
11g.47332117T>ACA380310692MYBPC3c.3769A>T (p.Asn1257Tyr)
c.3751A>T (p.Asn1251Tyr)
c.3688A>T (p.Asn1230Tyr)
11g.47332117T>CCA380310693MYBPC3c.3769A>G (p.Asn1257Asp)
c.3751A>G (p.Asn1251Asp)
c.3688A>G (p.Asn1230Asp)
 dbSNP
11g.47332117T>GCA380310694MYBPC3c.3769A>C (p.Asn1257His)
c.3751A>C (p.Asn1251His)
c.3688A>C (p.Asn1230His)
11g.47332117T=CA1969333344MYBPC3c.3769A= (p.Asn1257=)
c.3751A= (p.Asn1251=)
c.3688A= (p.Asn1230=)
11g.47332120_47332122delCA014829MYBPC3c.3767_3769del (p.Thr1256del)
c.3749_3751del (p.Thr1250del)
c.3686_3688del (p.Thr1229del)
 ClinVar dbSNP gnomAD v4
11g.47332118G>ACA474428835MYBPC3c.3768C>T (p.Thr1256=)
c.3750C>T (p.Thr1250=)
c.3687C>T (p.Thr1229=)
11g.47332118G>CCA474428836MYBPC3c.3768C>G (p.Thr1256=)
c.3750C>G (p.Thr1250=)
c.3687C>G (p.Thr1229=)
 ClinVar
11g.47332118G=CA1969333346MYBPC3c.3768C= (p.Thr1256=)
c.3750C= (p.Thr1250=)
c.3687C= (p.Thr1229=)
11g.47332118G>TCA474428834MYBPC3c.3768C>A (p.Thr1256=)
c.3750C>A (p.Thr1250=)
c.3687C>A (p.Thr1229=)
 dbSNP gnomAD v2 gnomAD v4
11g.47332118_47332119delCA2695213892MYBPC3c.3767_3768del (p.Thr1256LysfsTer9)
c.3749_3750del (p.Thr1250LysfsTer9)
c.3686_3687del (p.Thr1229LysfsTer9)
11g.47332119G>ACA055192MYBPC3c.3767C>T (p.Thr1256Ile)
c.3749C>T (p.Thr1250Ile)
c.3686C>T (p.Thr1229Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332119G>CCA380310704MYBPC3c.3767C>G (p.Thr1256Ser)
c.3749C>G (p.Thr1250Ser)
c.3686C>G (p.Thr1229Ser)
11g.47332119G=CA1969333348MYBPC3c.3767C= (p.Thr1256=)
c.3749C= (p.Thr1250=)
c.3686C= (p.Thr1229=)
11g.47332119G>TCA380310701MYBPC3c.3767C>A (p.Thr1256Asn)
c.3749C>A (p.Thr1250Asn)
c.3686C>A (p.Thr1229Asn)
11g.47332119_47332120delinsGTCA1969333350MYBPC3c.3766_3767delinsAC (p.Thr1256=)
c.3748_3749delinsAC (p.Thr1250=)
c.3685_3686delinsAC (p.Thr1229=)
11g.47332120delCA1139659380MYBPC3c.3766del (p.Thr1256ProfsTer?)
c.3748del (p.Thr1250ProfsTer?)
c.3685del (p.Thr1229ProfsTer?)
 ClinVar dbSNP
11g.47332120T>ACA380310708MYBPC3c.3766A>T (p.Thr1256Ser)
c.3748A>T (p.Thr1250Ser)
c.3685A>T (p.Thr1229Ser)
11g.47332120T>CCA380310712MYBPC3c.3766A>G (p.Thr1256Ala)
c.3748A>G (p.Thr1250Ala)
c.3685A>G (p.Thr1229Ala)
11g.47332120T>GCA380310715MYBPC3c.3766A>C (p.Thr1256Pro)
c.3748A>C (p.Thr1250Pro)
c.3685A>C (p.Thr1229Pro)
11g.47332120dupCA2695213893MYBPC3c.3766dup (p.Thr1256AsnfsTer10)
c.3748dup (p.Thr1250AsnfsTer10)
c.3685dup (p.Thr1229AsnfsTer10)
11g.47332121G>ACA474428837MYBPC3c.3765C>T (p.Ala1255=)
c.3747C>T (p.Ala1249=)
c.3684C>T (p.Ala1228=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332121G>CCA474428838MYBPC3c.3765C>G (p.Ala1255=)
c.3747C>G (p.Ala1249=)
c.3684C>G (p.Ala1228=)
 ClinVar dbSNP
11g.47332121G=CA1969333355MYBPC3c.3765C= (p.Ala1255=)
c.3747C= (p.Ala1249=)
c.3684C= (p.Ala1228=)
11g.47332121G>TCA474428839MYBPC3c.3765C>A (p.Ala1255=)
c.3747C>A (p.Ala1249=)
c.3684C>A (p.Ala1228=)
11g.47332122G>ACA054887MYBPC3c.3764C>T (p.Ala1255Val)
c.3746C>T (p.Ala1249Val)
c.3683C>T (p.Ala1228Val)
11g.47332122G>CCA221681757MYBPC3c.3764C>G (p.Ala1255Gly)
c.3746C>G (p.Ala1249Gly)
c.3683C>G (p.Ala1228Gly)
 ClinVar dbSNP gnomAD v4
11g.47332122G=CA1969333361MYBPC3c.3764C= (p.Ala1255=)
c.3746C= (p.Ala1249=)
c.3683C= (p.Ala1228=)
11g.47332122G>TCA014820MYBPC3c.3764C>A (p.Ala1255Asp)
c.3746C>A (p.Ala1249Asp)
c.3683C>A (p.Ala1228Asp)
 ClinVar dbSNP
11g.47332122_47332123delinsGCCA1969333364MYBPC3c.3763_3764delinsGC (p.Ala1255=)
c.3745_3746delinsGC (p.Ala1249=)
c.3682_3683delinsGC (p.Ala1228=)
11g.47332123C>ACA380310729MYBPC3c.3763G>T (p.Ala1255Ser)
c.3745G>T (p.Ala1249Ser)
c.3682G>T (p.Ala1228Ser)
11g.47332123C=CA1969333367MYBPC3c.3763G= (p.Ala1255=)
c.3745G= (p.Ala1249=)
c.3682G= (p.Ala1228=)
11g.47332123C>GCA380310734MYBPC3c.3763G>C (p.Ala1255Pro)
c.3745G>C (p.Ala1249Pro)
c.3682G>C (p.Ala1228Pro)
11g.47332123C>TCA014812MYBPC3c.3763G>A (p.Ala1255Thr)
c.3745G>A (p.Ala1249Thr)
c.3682G>A (p.Ala1228Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332125delCA014805MYBPC3c.3763del (p.Ala1255ProfsTer?)
c.3745del (p.Ala1249ProfsTer?)
c.3682del (p.Ala1228ProfsTer?)
 ClinVar dbSNP
11g.47332124C>ACA380310744MYBPC3c.3762G>T (p.Arg1254Ser)
c.3744G>T (p.Arg1248Ser)
c.3681G>T (p.Arg1227Ser)
11g.47332124C=CA1969333368MYBPC3c.3762G= (p.Arg1254=)
c.3744G= (p.Arg1248=)
c.3681G= (p.Arg1227=)
11g.47332124C>GCA380310749MYBPC3c.3762G>C (p.Arg1254Ser)
c.3744G>C (p.Arg1248Ser)
c.3681G>C (p.Arg1227Ser)
11g.47332124C>TCA079533MYBPC3c.3762G>A (p.Arg1254=)
c.3744G>A (p.Arg1248=)
c.3681G>A (p.Arg1227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332125C>ACA380310761MYBPC3c.3761G>T (p.Arg1254Met)
c.3743G>T (p.Arg1248Met)
c.3680G>T (p.Arg1227Met)
11g.47332125C>GCA380310768MYBPC3c.3761G>C (p.Arg1254Thr)
c.3743G>C (p.Arg1248Thr)
c.3680G>C (p.Arg1227Thr)
11g.47332125C>TCA380310764MYBPC3c.3761G>A (p.Arg1254Lys)
c.3743G>A (p.Arg1248Lys)
c.3680G>A (p.Arg1227Lys)
11g.47332126T>ACA380310773MYBPC3c.3760A>T (p.Arg1254Trp)
c.3742A>T (p.Arg1248Trp)
c.3679A>T (p.Arg1227Trp)
11g.47332126T>CCA380310776MYBPC3c.3760A>G (p.Arg1254Gly)
c.3742A>G (p.Arg1248Gly)
c.3679A>G (p.Arg1227Gly)
 ClinVar gnomAD v4
11g.47332126T>GCA474428840MYBPC3c.3760A>C (p.Arg1254=)
c.3742A>C (p.Arg1248=)
c.3679A>C (p.Arg1227=)
11g.47332126T=CA1969333369MYBPC3c.3760A= (p.Arg1254=)
c.3742A= (p.Arg1248=)
c.3679A= (p.Arg1227=)
11g.47332127G>ACA474428841MYBPC3c.3759C>T (p.Cys1253=)
c.3741C>T (p.Cys1247=)
c.3678C>T (p.Cys1226=)
11g.47332127G>CCA380310805MYBPC3c.3759C>G (p.Cys1253Trp)
c.3741C>G (p.Cys1247Trp)
c.3678C>G (p.Cys1226Trp)
11g.47332127G>TCA380310809MYBPC3c.3759C>A (p.Cys1253Ter)
c.3741C>A (p.Cys1247Ter)
c.3678C>A (p.Cys1226Ter)
11g.47332127dupCA1139659381MYBPC3c.3759dup (p.Arg1254GlnfsTer12)
c.3741dup (p.Arg1248GlnfsTer12)
c.3678dup (p.Arg1227GlnfsTer12)
 ClinVar dbSNP
11g.47332127_47332142delinsGCAGACATAGATGCCCCA1969333371MYBPC3c.3744_3759delinsGGGCATCTATGTCTGC (p.Gly1248=)
c.3726_3741delinsGGGCATCTATGTCTGC (p.Gly1242=)
c.3663_3678delinsGGGCATCTATGTCTGC (p.Gly1221=)
11g.47332128_47332145dupCA014796MYBPC3c.3742_3759dup (p.Cys1253_Arg1254insGlyGlyIleTyrValCys)
c.3724_3741dup (p.Cys1247_Arg1248insGlyGlyIleTyrValCys)
c.3661_3678dup (p.Cys1226_Arg1227insGlyGlyIleTyrValCys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332128_47332145delCA2695213894MYBPC3c.3742_3759del (p.Gly1248_Cys1253del)
c.3724_3741del (p.Gly1242_Cys1247del)
c.3661_3678del (p.Gly1221_Cys1226del)
11g.47332128C>ACA380310819MYBPC3c.3758G>T (p.Cys1253Phe)
c.3740G>T (p.Cys1247Phe)
c.3677G>T (p.Cys1226Phe)
11g.47332128C>GCA380310822MYBPC3c.3758G>C (p.Cys1253Ser)
c.3740G>C (p.Cys1247Ser)
c.3677G>C (p.Cys1226Ser)
11g.47332128C>TCA380310824MYBPC3c.3758G>A (p.Cys1253Tyr)
c.3740G>A (p.Cys1247Tyr)
c.3677G>A (p.Cys1226Tyr)
 ClinVar
11g.47332129_47332143delCA014740MYBPC3c.3744_3758del (p.Gly1249_Cys1253del)
c.3726_3740del (p.Gly1243_Cys1247del)
c.3663_3677del (p.Gly1222_Cys1226del)
 ClinVar dbSNP
11g.47332128_47332144dupCA1139771138MYBPC3c.3742_3758dup (p.Cys1253TrpfsTer?)
c.3724_3740dup (p.Cys1247TrpfsTer?)
c.3661_3677dup (p.Cys1226TrpfsTer?)
11g.47332129A>CCA380310841MYBPC3c.3757T>G (p.Cys1253Gly)
c.3739T>G (p.Cys1247Gly)
c.3676T>G (p.Cys1226Gly)
11g.47332129A>GCA380310845MYBPC3c.3757T>C (p.Cys1253Arg)
c.3739T>C (p.Cys1247Arg)
c.3676T>C (p.Cys1226Arg)
11g.47332129A>TCA380310835MYBPC3c.3757T>A (p.Cys1253Ser)
c.3739T>A (p.Cys1247Ser)
c.3676T>A (p.Cys1226Ser)
 ClinVar
11g.47332130G>ACA474428842MYBPC3c.3756C>T (p.Val1252=)
c.3738C>T (p.Val1246=)
c.3675C>T (p.Val1225=)
11g.47332130G>CCA079531MYBPC3c.3756C>G (p.Val1252=)
c.3738C>G (p.Val1246=)
c.3675C>G (p.Val1225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332130G=CA1969333374MYBPC3c.3756C= (p.Val1252=)
c.3738C= (p.Val1246=)
c.3675C= (p.Val1225=)
11g.47332130G>TCA474428843MYBPC3c.3756C>A (p.Val1252=)
c.3738C>A (p.Val1246=)
c.3675C>A (p.Val1225=)
11g.47332131A=CA1969333375MYBPC3c.3755T= (p.Val1252=)
c.3737T= (p.Val1246=)
c.3674T= (p.Val1225=)
11g.47332131A>CCA380310852MYBPC3c.3755T>G (p.Val1252Gly)
c.3737T>G (p.Val1246Gly)
c.3674T>G (p.Val1225Gly)
11g.47332131A>GCA380310856MYBPC3c.3755T>C (p.Val1252Ala)
c.3737T>C (p.Val1246Ala)
c.3674T>C (p.Val1225Ala)
11g.47332131A>TCA380310857MYBPC3c.3755T>A (p.Val1252Asp)
c.3737T>A (p.Val1246Asp)
c.3674T>A (p.Val1225Asp)
 dbSNP gnomAD v2
11g.47332132C>ACA380310860MYBPC3c.3754G>T (p.Val1252Phe)
c.3736G>T (p.Val1246Phe)
c.3673G>T (p.Val1225Phe)
11g.47332132C=CA1969333377MYBPC3c.3754G= (p.Val1252=)
c.3736G= (p.Val1246=)
c.3673G= (p.Val1225=)
11g.47332132C>GCA380310862MYBPC3c.3754G>C (p.Val1252Leu)
c.3736G>C (p.Val1246Leu)
c.3673G>C (p.Val1225Leu)
11g.47332132C>TCA380310866MYBPC3c.3754G>A (p.Val1252Ile)
c.3736G>A (p.Val1246Ile)
c.3673G>A (p.Val1225Ile)
 ClinVar dbSNP gnomAD v4
11g.47332132_47332134delinsCATCA1969333378MYBPC3c.3752_3754delinsATG (p.Tyr1251=)
c.3734_3736delinsATG (p.Tyr1245=)
c.3671_3673delinsATG (p.Tyr1224=)
11g.47332133A=CA1969333380MYBPC3c.3753T= (p.Tyr1251=)
c.3735T= (p.Tyr1245=)
c.3672T= (p.Tyr1224=)
11g.47332133A>CCA014787MYBPC3c.3753T>G (p.Tyr1251Ter)
c.3735T>G (p.Tyr1245Ter)
c.3672T>G (p.Tyr1224Ter)
 ClinVar dbSNP
11g.47332133A>GCA014777MYBPC3c.3753T>C (p.Tyr1251=)
c.3735T>C (p.Tyr1245=)
c.3672T>C (p.Tyr1224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332133A>TCA380310879MYBPC3c.3753T>A (p.Tyr1251Ter)
c.3735T>A (p.Tyr1245Ter)
c.3672T>A (p.Tyr1224Ter)
11g.47332134_47332135delCA1139659382MYBPC3c.3752_3753del (p.Tyr1251CysfsTer14)
c.3734_3735del (p.Tyr1245CysfsTer14)
c.3671_3672del (p.Tyr1224CysfsTer14)
 ClinVar dbSNP gnomAD v4
11g.47332134T>ACA380310882MYBPC3c.3752A>T (p.Tyr1251Phe)
c.3734A>T (p.Tyr1245Phe)
c.3671A>T (p.Tyr1224Phe)
11g.47332134T>CCA014770MYBPC3c.3752A>G (p.Tyr1251Cys)
c.3734A>G (p.Tyr1245Cys)
c.3671A>G (p.Tyr1224Cys)
 ClinVar dbSNP gnomAD v4
11g.47332134T>GCA380310892MYBPC3c.3752A>C (p.Tyr1251Ser)
c.3734A>C (p.Tyr1245Ser)
c.3671A>C (p.Tyr1224Ser)
11g.47332134T=CA1969333383MYBPC3c.3752A= (p.Tyr1251=)
c.3734A= (p.Tyr1245=)
c.3671A= (p.Tyr1224=)
11g.47332134dupCA2697548534MYBPC3c.3752dup (p.Tyr1251Ter)
c.3734dup (p.Tyr1245Ter)
c.3671dup (p.Tyr1224Ter)
 ClinVar
11g.47332135A=CA1969333385MYBPC3c.3751T= (p.Tyr1251=)
c.3733T= (p.Tyr1245=)
c.3670T= (p.Tyr1224=)
11g.47332135A>CCA380310899MYBPC3c.3751T>G (p.Tyr1251Asp)
c.3733T>G (p.Tyr1245Asp)
c.3670T>G (p.Tyr1224Asp)
 ClinVar dbSNP
11g.47332135A>GCA014762MYBPC3c.3751T>C (p.Tyr1251His)
c.3733T>C (p.Tyr1245His)
c.3670T>C (p.Tyr1224His)
 ClinVar dbSNP gnomAD v4
11g.47332135A>TCA380310894MYBPC3c.3751T>A (p.Tyr1251Asn)
c.3733T>A (p.Tyr1245Asn)
c.3670T>A (p.Tyr1224Asn)
 COSMIC COSMIC
11g.47332136G>ACA474428844MYBPC3c.3750C>T (p.Ile1250=)
c.3732C>T (p.Ile1244=)
c.3669C>T (p.Ile1223=)
11g.47332136G>CCA079527MYBPC3c.3750C>G (p.Ile1250Met)
c.3732C>G (p.Ile1244Met)
c.3669C>G (p.Ile1223Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332136G=CA1969333387MYBPC3c.3750C= (p.Ile1250=)
c.3732C= (p.Ile1244=)
c.3669C= (p.Ile1223=)
11g.47332136G>TCA474428845MYBPC3c.3750C>A (p.Ile1250=)
c.3732C>A (p.Ile1244=)
c.3669C>A (p.Ile1223=)
11g.47332137A>CCA380310909MYBPC3c.3749T>G (p.Ile1250Ser)
c.3731T>G (p.Ile1244Ser)
c.3668T>G (p.Ile1223Ser)
11g.47332137A>GCA380310914MYBPC3c.3749T>C (p.Ile1250Thr)
c.3731T>C (p.Ile1244Thr)
c.3668T>C (p.Ile1223Thr)
 gnomAD v4
11g.47332137A>TCA380310917MYBPC3c.3749T>A (p.Ile1250Asn)
c.3731T>A (p.Ile1244Asn)
c.3668T>A (p.Ile1223Asn)
11g.47332138delCA2739270411MYBPC3c.3748del (p.Ile1250SerfsTer?)
c.3730del (p.Ile1244SerfsTer?)
c.3667del (p.Ile1223SerfsTer?)
 ClinVar
11g.47332138T>ACA380310923MYBPC3c.3748A>T (p.Ile1250Phe)
c.3730A>T (p.Ile1244Phe)
c.3667A>T (p.Ile1223Phe)
11g.47332138T>CCA380310926MYBPC3c.3748A>G (p.Ile1250Val)
c.3730A>G (p.Ile1244Val)
c.3667A>G (p.Ile1223Val)
 dbSNP
11g.47332138T>GCA380310929MYBPC3c.3748A>C (p.Ile1250Leu)
c.3730A>C (p.Ile1244Leu)
c.3667A>C (p.Ile1223Leu)
11g.47332138T=CA1969333389MYBPC3c.3748A= (p.Ile1250=)
c.3730A= (p.Ile1244=)
c.3667A= (p.Ile1223=)
11g.47332138_47332139insCCCA2697548535MYBPC3c.3747_3748insGG (p.Ile1250GlyfsTer?)
c.3729_3730insGG (p.Ile1244GlyfsTer?)
c.3666_3667insGG (p.Ile1223GlyfsTer?)
 ClinVar
11g.47332139delCA2695213895MYBPC3c.3747del (p.Ile1250SerfsTer?)
c.3729del (p.Ile1244SerfsTer?)
c.3666del (p.Ile1223SerfsTer?)
11g.47332139G>ACA079526MYBPC3c.3747C>T (p.Gly1249=)
c.3729C>T (p.Gly1243=)
c.3666C>T (p.Gly1222=)
 dbSNP ExAC gnomAD v2
11g.47332139G>CCA054837MYBPC3c.3747C>G (p.Gly1249=)
c.3729C>G (p.Gly1243=)
c.3666C>G (p.Gly1222=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332139G=CA1969333392MYBPC3c.3747C= (p.Gly1249=)
c.3729C= (p.Gly1243=)
c.3666C= (p.Gly1222=)
11g.47332139G>TCA474428846MYBPC3c.3747C>A (p.Gly1249=)
c.3729C>A (p.Gly1243=)
c.3666C>A (p.Gly1222=)
11g.47332139dupCA2695213896MYBPC3c.3747dup (p.Ile1250HisfsTer16)
c.3729dup (p.Ile1244HisfsTer16)
c.3666dup (p.Ile1223HisfsTer16)
11g.47332140C>ACA014754MYBPC3c.3746G>T (p.Gly1249Val)
c.3728G>T (p.Gly1243Val)
c.3665G>T (p.Gly1222Val)
 ClinVar dbSNP gnomAD v4
11g.47332140C=CA1969333395MYBPC3c.3746G= (p.Gly1249=)
c.3728G= (p.Gly1243=)
c.3665G= (p.Gly1222=)
11g.47332140C>GCA380310941MYBPC3c.3746G>C (p.Gly1249Ala)
c.3728G>C (p.Gly1243Ala)
c.3665G>C (p.Gly1222Ala)
11g.47332140C>TCA380310946MYBPC3c.3746G>A (p.Gly1249Asp)
c.3728G>A (p.Gly1243Asp)
c.3665G>A (p.Gly1222Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332143_47332144insGCAGACATAGATGCCCCCCA2739291458MYBPC3c.3746_3747insGCATCTATGTCTGCGGGG (p.Gly1249_Ile1250insHisLeuCysLeuArgGly)
c.3728_3729insGCATCTATGTCTGCGGGG (p.Gly1243_Ile1244insHisLeuCysLeuArgGly)
c.3665_3666insGCATCTATGTCTGCGGGG (p.Gly1222_Ile1223insHisLeuCysLeuArgGly)
11g.47332144delCA2573146356MYBPC3c.3746del (p.Gly1249AlafsTer?)
c.3728del (p.Gly1243AlafsTer?)
c.3665del (p.Gly1222AlafsTer?)
 ClinVar dbSNP
11g.47332141C>ACA380310950MYBPC3c.3745G>T (p.Gly1249Cys)
c.3727G>T (p.Gly1243Cys)
c.3664G>T (p.Gly1222Cys)
11g.47332141C>GCA380310954MYBPC3c.3745G>C (p.Gly1249Arg)
c.3727G>C (p.Gly1243Arg)
c.3664G>C (p.Gly1222Arg)
11g.47332141C>TCA380310958MYBPC3c.3745G>A (p.Gly1249Ser)
c.3727G>A (p.Gly1243Ser)
c.3664G>A (p.Gly1222Ser)
 gnomAD v4
11g.47332142C>ACA474428849MYBPC3c.3744G>T (p.Gly1248=)
c.3726G>T (p.Gly1242=)
c.3663G>T (p.Gly1221=)
11g.47332142C=CA1969333396MYBPC3c.3744G= (p.Gly1248=)
c.3726G= (p.Gly1242=)
c.3663G= (p.Gly1221=)
11g.47332142C>GCA474428848MYBPC3c.3744G>C (p.Gly1248=)
c.3726G>C (p.Gly1242=)
c.3663G>C (p.Gly1221=)
11g.47332142C>TCA474428847MYBPC3c.3744G>A (p.Gly1248=)
c.3726G>A (p.Gly1242=)
c.3663G>A (p.Gly1221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332143C>ACA380310961MYBPC3c.3743G>T (p.Gly1248Val)
c.3725G>T (p.Gly1242Val)
c.3662G>T (p.Gly1221Val)
11g.47332143C>GCA380310960MYBPC3c.3743G>C (p.Gly1248Ala)
c.3725G>C (p.Gly1242Ala)
c.3662G>C (p.Gly1221Ala)
11g.47332143C>TCA380310959MYBPC3c.3743G>A (p.Gly1248Glu)
c.3725G>A (p.Gly1242Glu)
c.3662G>A (p.Gly1221Glu)
11g.47332144C>ACA380310963MYBPC3c.3742G>T (p.Gly1248Trp)
c.3724G>T (p.Gly1242Trp)
c.3661G>T (p.Gly1221Trp)
 COSMIC
11g.47332144C=CA1969333398MYBPC3c.3742G= (p.Gly1248=)
c.3724G= (p.Gly1242=)
c.3661G= (p.Gly1221=)
11g.47332144C>GCA380310966MYBPC3c.3742G>C (p.Gly1248Arg)
c.3724G>C (p.Gly1242Arg)
c.3661G>C (p.Gly1221Arg)
 COSMIC COSMIC
11g.47332144C>TCA014732MYBPC3c.3742G>A (p.Gly1248Arg)
c.3724G>A (p.Gly1242Arg)
c.3661G>A (p.Gly1221Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332145G>ACA014720MYBPC3c.3741C>T (p.Asp1247=)
c.3723C>T (p.Asp1241=)
c.3660C>T (p.Asp1220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332145G>CCA380310976MYBPC3c.3741C>G (p.Asp1247Glu)
c.3723C>G (p.Asp1241Glu)
c.3660C>G (p.Asp1220Glu)
11g.47332145G=CA1969333400MYBPC3c.3741C= (p.Asp1247=)
c.3723C= (p.Asp1241=)
c.3660C= (p.Asp1220=)
11g.47332145G>TCA380310979MYBPC3c.3741C>A (p.Asp1247Glu)
c.3723C>A (p.Asp1241Glu)
c.3660C>A (p.Asp1220Glu)
11g.47332146T>ACA380310989MYBPC3c.3740A>T (p.Asp1247Val)
c.3722A>T (p.Asp1241Val)
c.3659A>T (p.Asp1220Val)
11g.47332146T>CCA380310981MYBPC3c.3740A>G (p.Asp1247Gly)
c.3722A>G (p.Asp1241Gly)
c.3659A>G (p.Asp1220Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332146T>GCA380310986MYBPC3c.3740A>C (p.Asp1247Ala)
c.3722A>C (p.Asp1241Ala)
c.3659A>C (p.Asp1220Ala)
11g.47332146T=CA1969333403MYBPC3c.3740A= (p.Asp1247=)
c.3722A= (p.Asp1241=)
c.3659A= (p.Asp1220=)

Number of alleles fetched