Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332259_47335041delCA2580084187MYBPC3c.2905+1_3628-1del
c.2887+1_3610-1del
c.2824+1_3547-1del
ClinVar
11g.47332672dupCA2697548542MYBPC3c.3523dup (p.Leu1175ProfsTer?)
c.3505dup (p.Leu1169ProfsTer?)
c.3442dup (p.Leu1148ProfsTer?)
ClinVar
11g.47332671G>ACA474428981MYBPC3c.3522C>T (p.Ala1174=)
c.3504C>T (p.Ala1168=)
c.3441C>T (p.Ala1147=)
ClinVar gnomAD v4
11g.47332671G>CCA474428983MYBPC3c.3522C>G (p.Ala1174=)
c.3504C>G (p.Ala1168=)
c.3441C>G (p.Ala1147=)
11g.47332671G>TCA474428982MYBPC3c.3522C>A (p.Ala1174=)
c.3504C>A (p.Ala1168=)
c.3441C>A (p.Ala1147=)
11g.47332672G>ACA380312755MYBPC3c.3521C>T (p.Ala1174Val)
c.3503C>T (p.Ala1168Val)
c.3440C>T (p.Ala1147Val)
gnomAD v4
11g.47332672G>CCA380312757MYBPC3c.3521C>G (p.Ala1174Gly)
c.3503C>G (p.Ala1168Gly)
c.3440C>G (p.Ala1147Gly)
11g.47332672G>TCA380312759MYBPC3c.3521C>A (p.Ala1174Asp)
c.3503C>A (p.Ala1168Asp)
c.3440C>A (p.Ala1147Asp)
gnomAD v4
11g.47332672_47332675delinsGCCTCA1969334387MYBPC3c.3518_3521delinsAGGC (p.Lys1173=)
c.3500_3503delinsAGGC (p.Lys1167=)
c.3437_3440delinsAGGC (p.Lys1146=)
11g.47332673C>ACA380312762MYBPC3c.3520G>T (p.Ala1174Ser)
c.3502G>T (p.Ala1168Ser)
c.3439G>T (p.Ala1147Ser)
11g.47332673C>GCA380312765MYBPC3c.3520G>C (p.Ala1174Pro)
c.3502G>C (p.Ala1168Pro)
c.3439G>C (p.Ala1147Pro)
11g.47332673C>TCA380312767MYBPC3c.3520G>A (p.Ala1174Thr)
c.3502G>A (p.Ala1168Thr)
c.3439G>A (p.Ala1147Thr)
11g.47332673_47332675delCA079423MYBPC3c.3518_3520del (p.Lys1173_Ala1174delinsThr)
c.3500_3502del (p.Lys1167_Ala1168delinsThr)
c.3437_3439del (p.Lys1146_Ala1147delinsThr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332673_47332676delinsTGGCTCCA2695213907MYBPC3c.3517_3520delinsGAGCCA (p.Lys1173GlufsTer17)
c.3499_3502delinsGAGCCA (p.Lys1167GlufsTer17)
c.3436_3439delinsGAGCCA (p.Lys1146GlufsTer17)
11g.47332674C>ACA380312771MYBPC3c.3519G>T (p.Lys1173Asn)
c.3501G>T (p.Lys1167Asn)
c.3438G>T (p.Lys1146Asn)
ClinVar dbSNP
11g.47332674C=CA1969334393MYBPC3c.3519G= (p.Lys1173=)
c.3501G= (p.Lys1167=)
c.3438G= (p.Lys1146=)
11g.47332674C>GCA380312773MYBPC3c.3519G>C (p.Lys1173Asn)
c.3501G>C (p.Lys1167Asn)
c.3438G>C (p.Lys1146Asn)
11g.47332674C>TCA474428984MYBPC3c.3519G>A (p.Lys1173=)
c.3501G>A (p.Lys1167=)
c.3438G>A (p.Lys1146=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.47332677_47333963delCA2573051316MYBPC3c.2956_3519del
c.2938_3501del
c.2875_3438del
11g.47332675T>ACA380312780MYBPC3c.3518A>T (p.Lys1173Met)
c.3500A>T (p.Lys1167Met)
c.3437A>T (p.Lys1146Met)
11g.47332675T>CCA380312778MYBPC3c.3518A>G (p.Lys1173Arg)
c.3500A>G (p.Lys1167Arg)
c.3437A>G (p.Lys1146Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332675T>GCA380312777MYBPC3c.3518A>C (p.Lys1173Thr)
c.3500A>C (p.Lys1167Thr)
c.3437A>C (p.Lys1146Thr)
11g.47332675T=CA1969334402MYBPC3c.3518A= (p.Lys1173=)
c.3500A= (p.Lys1167=)
c.3437A= (p.Lys1146=)
11g.47332676_47332678delCA054165MYBPC3c.3516_3518del (p.Tyr1172Ter)
c.3498_3500del (p.Tyr1166Ter)
c.3435_3437del (p.Tyr1145Ter)
11g.47332675_47335092delCA2573051317MYBPC3c.2855_3518del
c.2837_3500del
c.2774_3437del
11g.47332676T>ACA380312783MYBPC3c.3517A>T (p.Lys1173Ter)
c.3499A>T (p.Lys1167Ter)
c.3436A>T (p.Lys1146Ter)
11g.47332676T>CCA221682086MYBPC3c.3517A>G (p.Lys1173Glu)
c.3499A>G (p.Lys1167Glu)
c.3436A>G (p.Lys1146Glu)
dbSNP
11g.47332676T>GCA380312786MYBPC3c.3517A>C (p.Lys1173Gln)
c.3499A>C (p.Lys1167Gln)
c.3436A>C (p.Lys1146Gln)
11g.47332676T=CA1969334410MYBPC3c.3517A= (p.Lys1173=)
c.3499A= (p.Lys1167=)
c.3436A= (p.Lys1146=)
11g.47332676_47332679dupCA16619332MYBPC3c.3514_3517dup (p.Lys1173IlefsTer2)
c.3496_3499dup (p.Lys1167IlefsTer2)
c.3433_3436dup (p.Lys1146IlefsTer2)
ClinVar dbSNP
11g.47332677delCA2695213908MYBPC3c.3516del (p.Tyr1172Ter)
c.3498del (p.Tyr1166Ter)
c.3435del (p.Tyr1145Ter)
11g.47332677A=CA1969334413MYBPC3c.3516T= (p.Tyr1172=)
c.3498T= (p.Tyr1166=)
c.3435T= (p.Tyr1145=)
11g.47332677A>CCA380312788MYBPC3c.3516T>G (p.Tyr1172Ter)
c.3498T>G (p.Tyr1166Ter)
c.3435T>G (p.Tyr1145Ter)
11g.47332677A>GCA474428985MYBPC3c.3516T>C (p.Tyr1172=)
c.3498T>C (p.Tyr1166=)
c.3435T>C (p.Tyr1145=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332677A>TCA380312790MYBPC3c.3516T>A (p.Tyr1172Ter)
c.3498T>A (p.Tyr1166Ter)
c.3435T>A (p.Tyr1145Ter)
11g.47332678T>ACA380312794MYBPC3c.3515A>T (p.Tyr1172Phe)
c.3497A>T (p.Tyr1166Phe)
c.3434A>T (p.Tyr1145Phe)
11g.47332678T>CCA380312796MYBPC3c.3515A>G (p.Tyr1172Cys)
c.3497A>G (p.Tyr1166Cys)
c.3434A>G (p.Tyr1145Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332678T>GCA380312798MYBPC3c.3515A>C (p.Tyr1172Ser)
c.3497A>C (p.Tyr1166Ser)
c.3434A>C (p.Tyr1145Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332678T=CA1969334417MYBPC3c.3515A= (p.Tyr1172=)
c.3497A= (p.Tyr1166=)
c.3434A= (p.Tyr1145=)
11g.47332679A=CA1969334421MYBPC3c.3514T= (p.Tyr1172=)
c.3496T= (p.Tyr1166=)
c.3433T= (p.Tyr1145=)
11g.47332679A>CCA380312801MYBPC3c.3514T>G (p.Tyr1172Asp)
c.3496T>G (p.Tyr1166Asp)
c.3433T>G (p.Tyr1145Asp)
11g.47332679A>GCA380312803MYBPC3c.3514T>C (p.Tyr1172His)
c.3496T>C (p.Tyr1166His)
c.3433T>C (p.Tyr1145His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332679A>TCA380312805MYBPC3c.3514T>A (p.Tyr1172Asn)
c.3496T>A (p.Tyr1166Asn)
c.3433T>A (p.Tyr1145Asn)
gnomAD v4
11g.47332680G>ACA474428986MYBPC3c.3513C>T (p.Asn1171=)
c.3495C>T (p.Asn1165=)
c.3432C>T (p.Asn1144=)
11g.47332680G>CCA380312808MYBPC3c.3513C>G (p.Asn1171Lys)
c.3495C>G (p.Asn1165Lys)
c.3432C>G (p.Asn1144Lys)
11g.47332680G=CA1969334424MYBPC3c.3513C= (p.Asn1171=)
c.3495C= (p.Asn1165=)
c.3432C= (p.Asn1144=)
11g.47332680G>TCA380312810MYBPC3c.3513C>A (p.Asn1171Lys)
c.3495C>A (p.Asn1165Lys)
c.3432C>A (p.Asn1144Lys)
dbSNP
11g.47332680_47332681delinsGTCA1969334426MYBPC3c.3512_3513delinsAC (p.Asn1171=)
c.3494_3495delinsAC (p.Asn1165=)
c.3431_3432delinsAC (p.Asn1144=)
11g.47332681T>ACA380312817MYBPC3c.3512A>T (p.Asn1171Ile)
c.3494A>T (p.Asn1165Ile)
c.3431A>T (p.Asn1144Ile)
11g.47332681T>CCA079421MYBPC3c.3512A>G (p.Asn1171Ser)
c.3494A>G (p.Asn1165Ser)
c.3431A>G (p.Asn1144Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332681T>GCA380312819MYBPC3c.3512A>C (p.Asn1171Thr)
c.3494A>C (p.Asn1165Thr)
c.3431A>C (p.Asn1144Thr)
11g.47332681T=CA1969334432MYBPC3c.3512A= (p.Asn1171=)
c.3494A= (p.Asn1165=)
c.3431A= (p.Asn1144=)
11g.47332682delCA10576881MYBPC3c.3512del (p.Asn1171ThrfsTer18)
c.3494del (p.Asn1165ThrfsTer18)
c.3431del (p.Asn1144ThrfsTer18)
ClinVar dbSNP
11g.47332682T>ACA380312825MYBPC3c.3511A>T (p.Asn1171Tyr)
c.3493A>T (p.Asn1165Tyr)
c.3430A>T (p.Asn1144Tyr)
11g.47332682T>CCA380312822MYBPC3c.3511A>G (p.Asn1171Asp)
c.3493A>G (p.Asn1165Asp)
c.3430A>G (p.Asn1144Asp)
11g.47332682T>GCA380312827MYBPC3c.3511A>C (p.Asn1171His)
c.3493A>C (p.Asn1165His)
c.3430A>C (p.Asn1144His)
11g.47332683G>ACA221682095MYBPC3c.3510C>T (p.Pro1170=)
c.3492C>T (p.Pro1164=)
c.3429C>T (p.Pro1143=)
dbSNP
11g.47332683G>CCA474428987MYBPC3c.3510C>G (p.Pro1170=)
c.3492C>G (p.Pro1164=)
c.3429C>G (p.Pro1143=)
11g.47332683G=CA1969334438MYBPC3c.3510C= (p.Pro1170=)
c.3492C= (p.Pro1164=)
c.3429C= (p.Pro1143=)
11g.47332683G>TCA474428988MYBPC3c.3510C>A (p.Pro1170=)
c.3492C>A (p.Pro1164=)
c.3429C>A (p.Pro1143=)
11g.47332685dupCA2695213909MYBPC3c.3510dup (p.Asn1171GlnfsTer3)
c.3492dup (p.Asn1165GlnfsTer3)
c.3429dup (p.Asn1144GlnfsTer3)
11g.47332684G>ACA380312838MYBPC3c.3509C>T (p.Pro1170Leu)
c.3491C>T (p.Pro1164Leu)
c.3428C>T (p.Pro1143Leu)
11g.47332684G>CCA380312832MYBPC3c.3509C>G (p.Pro1170Arg)
c.3491C>G (p.Pro1164Arg)
c.3428C>G (p.Pro1143Arg)
11g.47332684G>TCA380312840MYBPC3c.3509C>A (p.Pro1170His)
c.3491C>A (p.Pro1164His)
c.3428C>A (p.Pro1143His)
11g.47332685G>ACA380312843MYBPC3c.3508C>T (p.Pro1170Ser)
c.3490C>T (p.Pro1164Ser)
c.3427C>T (p.Pro1143Ser)
11g.47332685G>CCA380312848MYBPC3c.3508C>G (p.Pro1170Ala)
c.3490C>G (p.Pro1164Ala)
c.3427C>G (p.Pro1143Ala)
11g.47332685G>TCA380312845MYBPC3c.3508C>A (p.Pro1170Thr)
c.3490C>A (p.Pro1164Thr)
c.3427C>A (p.Pro1143Thr)
11g.47332686T>ACA474428989MYBPC3c.3507A>T (p.Pro1169=)
c.3489A>T (p.Pro1163=)
c.3426A>T (p.Pro1142=)
11g.47332686T>CCA474428990MYBPC3c.3507A>G (p.Pro1169=)
c.3489A>G (p.Pro1163=)
c.3426A>G (p.Pro1142=)
11g.47332686T>GCA474428991MYBPC3c.3507A>C (p.Pro1169=)
c.3489A>C (p.Pro1163=)
c.3426A>C (p.Pro1142=)
11g.47332687G>ACA380312851MYBPC3c.3506C>T (p.Pro1169Leu)
c.3488C>T (p.Pro1163Leu)
c.3425C>T (p.Pro1142Leu)
ClinVar dbSNP gnomAD v4
11g.47332687G>CCA380312855MYBPC3c.3506C>G (p.Pro1169Arg)
c.3488C>G (p.Pro1163Arg)
c.3425C>G (p.Pro1142Arg)
11g.47332687G=CA1969334441MYBPC3c.3506C= (p.Pro1169=)
c.3488C= (p.Pro1163=)
c.3425C= (p.Pro1142=)
11g.47332687G>TCA380312853MYBPC3c.3506C>A (p.Pro1169Gln)
c.3488C>A (p.Pro1163Gln)
c.3425C>A (p.Pro1142Gln)
11g.47332688G>ACA380312859MYBPC3c.3505C>T (p.Pro1169Ser)
c.3487C>T (p.Pro1163Ser)
c.3424C>T (p.Pro1142Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47332688G>CCA380312863MYBPC3c.3505C>G (p.Pro1169Ala)
c.3487C>G (p.Pro1163Ala)
c.3424C>G (p.Pro1142Ala)
11g.47332688G=CA1969334443MYBPC3c.3505C= (p.Pro1169=)
c.3487C= (p.Pro1163=)
c.3424C= (p.Pro1142=)
11g.47332688G>TCA380312861MYBPC3c.3505C>A (p.Pro1169Thr)
c.3487C>A (p.Pro1163Thr)
c.3424C>A (p.Pro1142Thr)
11g.47332689C>ACA380312865MYBPC3c.3504G>T (p.Glu1168Asp)
c.3486G>T (p.Glu1162Asp)
c.3423G>T (p.Glu1141Asp)
gnomAD v4
11g.47332689C=CA1969334445MYBPC3c.3504G= (p.Glu1168=)
c.3486G= (p.Glu1162=)
c.3423G= (p.Glu1141=)
11g.47332689C>GCA380312867MYBPC3c.3504G>C (p.Glu1168Asp)
c.3486G>C (p.Glu1162Asp)
c.3423G>C (p.Glu1141Asp)
11g.47332689C>TCA474428992MYBPC3c.3504G>A (p.Glu1168=)
c.3486G>A (p.Glu1162=)
c.3423G>A (p.Glu1141=)
dbSNP
11g.47332690T>ACA380312870MYBPC3c.3503A>T (p.Glu1168Val)
c.3485A>T (p.Glu1162Val)
c.3422A>T (p.Glu1141Val)
11g.47332690T>CCA380312873MYBPC3c.3503A>G (p.Glu1168Gly)
c.3485A>G (p.Glu1162Gly)
c.3422A>G (p.Glu1141Gly)
11g.47332690T>GCA380312875MYBPC3c.3503A>C (p.Glu1168Ala)
c.3485A>C (p.Glu1162Ala)
c.3422A>C (p.Glu1141Ala)
11g.47332691C>ACA380312878MYBPC3c.3502G>T (p.Glu1168Ter)
c.3484G>T (p.Glu1162Ter)
c.3421G>T (p.Glu1141Ter)
11g.47332691C=CA1969334447MYBPC3c.3502G= (p.Glu1168=)
c.3484G= (p.Glu1162=)
c.3421G= (p.Glu1141=)
11g.47332691C>GCA380312879MYBPC3c.3502G>C (p.Glu1168Gln)
c.3484G>C (p.Glu1162Gln)
c.3421G>C (p.Glu1141Gln)
11g.47332691C>TCA380312881MYBPC3c.3502G>A (p.Glu1168Lys)
c.3484G>A (p.Glu1162Lys)
c.3421G>A (p.Glu1141Lys)
dbSNP
11g.47332692A>CCA380312884MYBPC3c.3501T>G (p.Tyr1167Ter)
c.3483T>G (p.Tyr1161Ter)
c.3420T>G (p.Tyr1140Ter)
gnomAD v4
11g.47332692A>GCA474428993MYBPC3c.3501T>C (p.Tyr1167=)
c.3483T>C (p.Tyr1161=)
c.3420T>C (p.Tyr1140=)
11g.47332692A>TCA380312885MYBPC3c.3501T>A (p.Tyr1167Ter)
c.3483T>A (p.Tyr1161Ter)
c.3420T>A (p.Tyr1140Ter)
11g.47332693T>ACA380312892MYBPC3c.3500A>T (p.Tyr1167Phe)
c.3482A>T (p.Tyr1161Phe)
c.3419A>T (p.Tyr1140Phe)
11g.47332693T>CCA380312890MYBPC3c.3500A>G (p.Tyr1167Cys)
c.3482A>G (p.Tyr1161Cys)
c.3419A>G (p.Tyr1140Cys)
11g.47332693T>GCA380312888MYBPC3c.3500A>C (p.Tyr1167Ser)
c.3482A>C (p.Tyr1161Ser)
c.3419A>C (p.Tyr1140Ser)
11g.47332694A>CCA380312895MYBPC3c.3499T>G (p.Tyr1167Asp)
c.3481T>G (p.Tyr1161Asp)
c.3418T>G (p.Tyr1140Asp)
11g.47332694A>GCA380312897MYBPC3c.3499T>C (p.Tyr1167His)
c.3481T>C (p.Tyr1161His)
c.3418T>C (p.Tyr1140His)
ClinVar gnomAD v4
11g.47332694A>TCA380312899MYBPC3c.3499T>A (p.Tyr1167Asn)
c.3481T>A (p.Tyr1161Asn)
c.3418T>A (p.Tyr1140Asn)
11g.47332695G>ACA474428994MYBPC3c.3498C>T (p.Thr1166=)
c.3480C>T (p.Thr1160=)
c.3417C>T (p.Thr1139=)
11g.47332695G>CCA079420MYBPC3c.3498C>G (p.Thr1166=)
c.3480C>G (p.Thr1160=)
c.3417C>G (p.Thr1139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332695G=CA1969334450MYBPC3c.3498C= (p.Thr1166=)
c.3480C= (p.Thr1160=)
c.3417C= (p.Thr1139=)
11g.47332695G>TCA474428995MYBPC3c.3498C>A (p.Thr1166=)
c.3480C>A (p.Thr1160=)
c.3417C>A (p.Thr1139=)
dbSNP gnomAD v4
11g.47332696G>ACA380312905MYBPC3c.3497C>T (p.Thr1166Ile)
c.3479C>T (p.Thr1160Ile)
c.3416C>T (p.Thr1139Ile)
dbSNP
11g.47332696G>CCA380312906MYBPC3c.3497C>G (p.Thr1166Ser)
c.3479C>G (p.Thr1160Ser)
c.3416C>G (p.Thr1139Ser)
ClinVar dbSNP gnomAD v4
11g.47332696G=CA1969334454MYBPC3c.3497C= (p.Thr1166=)
c.3479C= (p.Thr1160=)
c.3416C= (p.Thr1139=)
11g.47332696G>TCA380312909MYBPC3c.3497C>A (p.Thr1166Asn)
c.3479C>A (p.Thr1160Asn)
c.3416C>A (p.Thr1139Asn)
11g.47332697T>ACA380312912MYBPC3c.3496A>T (p.Thr1166Ser)
c.3478A>T (p.Thr1160Ser)
c.3415A>T (p.Thr1139Ser)
11g.47332697T>CCA380312914MYBPC3c.3496A>G (p.Thr1166Ala)
c.3478A>G (p.Thr1160Ala)
c.3415A>G (p.Thr1139Ala)
11g.47332697T>GCA380312915MYBPC3c.3496A>C (p.Thr1166Pro)
c.3478A>C (p.Thr1160Pro)
c.3415A>C (p.Thr1139Pro)
dbSNP
11g.47332697T=CA1969334455MYBPC3c.3496A= (p.Thr1166=)
c.3478A= (p.Thr1160=)
c.3415A= (p.Thr1139=)
11g.47332698G>ACA474428996MYBPC3c.3495C>T (p.Ile1165=)
c.3477C>T (p.Ile1159=)
c.3414C>T (p.Ile1138=)
11g.47332698G>CCA054146MYBPC3c.3495C>G (p.Ile1165Met)
c.3477C>G (p.Ile1159Met)
c.3414C>G (p.Ile1138Met)
11g.47332698G>TCA474428997MYBPC3c.3495C>A (p.Ile1165=)
c.3477C>A (p.Ile1159=)
c.3414C>A (p.Ile1138=)
11g.47332699A>CCA380312925MYBPC3c.3494T>G (p.Ile1165Ser)
c.3476T>G (p.Ile1159Ser)
c.3413T>G (p.Ile1138Ser)
11g.47332699A>GCA380312922MYBPC3c.3494T>C (p.Ile1165Thr)
c.3476T>C (p.Ile1159Thr)
c.3413T>C (p.Ile1138Thr)
11g.47332699A>TCA380312920MYBPC3c.3494T>A (p.Ile1165Asn)
c.3476T>A (p.Ile1159Asn)
c.3413T>A (p.Ile1138Asn)
11g.47332700T>ACA380312929MYBPC3c.3493A>T (p.Ile1165Phe)
c.3475A>T (p.Ile1159Phe)
c.3412A>T (p.Ile1138Phe)
11g.47332700T>CCA380312931MYBPC3c.3493A>G (p.Ile1165Val)
c.3475A>G (p.Ile1159Val)
c.3412A>G (p.Ile1138Val)
11g.47332700T>GCA380312933MYBPC3c.3493A>C (p.Ile1165Leu)
c.3475A>C (p.Ile1159Leu)
c.3412A>C (p.Ile1138Leu)
11g.47332701delCA2739291460MYBPC3c.3492del (p.Ile1165SerfsTer24)
c.3474del (p.Ile1159SerfsTer24)
c.3411del (p.Ile1138SerfsTer24)
11g.47332701G>ACA079418MYBPC3c.3492C>T (p.Gly1164=)
c.3474C>T (p.Gly1158=)
c.3411C>T (p.Gly1137=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332701G>CCA474428999MYBPC3c.3492C>G (p.Gly1164=)
c.3474C>G (p.Gly1158=)
c.3411C>G (p.Gly1137=)
11g.47332701G=CA1969334458MYBPC3c.3492C= (p.Gly1164=)
c.3474C= (p.Gly1158=)
c.3411C= (p.Gly1137=)
11g.47332701G>TCA474428998MYBPC3c.3492C>A (p.Gly1164=)
c.3474C>A (p.Gly1158=)
c.3411C>A (p.Gly1137=)
11g.47332702C>ACA380312937MYBPC3c.3491G>T (p.Gly1164Val)
c.3473G>T (p.Gly1158Val)
c.3410G>T (p.Gly1137Val)
11g.47332702C=CA1969334460MYBPC3c.3491G= (p.Gly1164=)
c.3473G= (p.Gly1158=)
c.3410G= (p.Gly1137=)
11g.47332702C>GCA380312939MYBPC3c.3491G>C (p.Gly1164Ala)
c.3473G>C (p.Gly1158Ala)
c.3410G>C (p.Gly1137Ala)
11g.47332702C>TCA380312941MYBPC3c.3491G>A (p.Gly1164Asp)
c.3473G>A (p.Gly1158Asp)
c.3410G>A (p.Gly1137Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332706_47332816delCA2791331636MYBPC3c.3490+2_3491del
c.3472+2_3473del
c.3409+2_3410del
11g.47332703C>ACA380312944MYBPC3c.3491-1G>T (n.3491-1G>T)
c.3473-1G>T (n.3473-1G>T)
c.3410-1G>T (n.3410-1G>T)
11g.47332703C>GCA380312947MYBPC3c.3491-1G>C (n.3491-1G>C)
c.3473-1G>C (n.3473-1G>C)
c.3410-1G>C (n.3410-1G>C)
11g.47332703C>TCA380312948MYBPC3c.3491-1G>A (n.3491-1G>A)
c.3473-1G>A (n.3473-1G>A)
c.3410-1G>A (n.3410-1G>A)
ClinVar
11g.47332704T>ACA014265MYBPC3c.3491-2A>T (n.3491-2A>T)
c.3473-2A>T (n.3473-2A>T)
c.3410-2A>T (n.3410-2A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47332704T>CCA014256MYBPC3c.3491-2A>G (n.3491-2A>G)
c.3473-2A>G (n.3473-2A>G)
c.3410-2A>G (n.3410-2A>G)
dbSNP
11g.47332704T>GCA380312951MYBPC3c.3491-2A>C (n.3491-2A>C)
c.3473-2A>C (n.3473-2A>C)
c.3410-2A>C (n.3410-2A>C)
ClinVar dbSNP
11g.47332704T=CA1969334462MYBPC3c.3491-2A= (n.3491-2A=)
c.3473-2A= (n.3473-2A=)
c.3410-2A= (n.3410-2A=)
11g.47332705G>ACA599374160MYBPC3c.3491-3C>T (n.3491-3C>T)
c.3473-3C>T (n.3473-3C>T)
c.3410-3C>T (n.3410-3C>T)
dbSNP gnomAD v2 gnomAD v4
11g.47332705G>CCA014283MYBPC3c.3491-3C>G (n.3491-3C>G)
c.3473-3C>G (n.3473-3C>G)
c.3410-3C>G (n.3410-3C>G)
ClinVar dbSNP gnomAD v4
11g.47332705G=CA1969334465MYBPC3c.3491-3C= (n.3491-3C=)
c.3473-3C= (n.3473-3C=)
c.3410-3C= (n.3410-3C=)
11g.47332705G>TCA014273MYBPC3c.3491-3C>A (n.3491-3C>A)
c.3473-3C>A (n.3473-3C>A)
c.3410-3C>A (n.3410-3C>A)
ClinVar dbSNP
11g.47332707T>ACA221682112MYBPC3c.3491-5A>T (n.3491-5A>T)
c.3473-5A>T (n.3473-5A>T)
c.3410-5A>T (n.3410-5A>T)
dbSNP
11g.47332707T=CA1969334467MYBPC3c.3491-5A= (n.3491-5A=)
c.3473-5A= (n.3473-5A=)
c.3410-5A= (n.3410-5A=)
11g.47332710_47332716delCA2695213910MYBPC3c.3491-12_3491-6del (n.3491-12_3491-6del)
c.3473-12_3473-6del (n.3473-12_3473-6del)
c.3410-12_3410-6del (n.3410-12_3410-6del)
11g.47332709G=CA1969334469MYBPC3c.3491-7C= (n.3491-7C=)
c.3473-7C= (n.3473-7C=)
c.3410-7C= (n.3410-7C=)
11g.47332709G>TCA1969334470MYBPC3c.3491-7C>A (n.3491-7C>A)
c.3473-7C>A (n.3473-7C>A)
c.3410-7C>A (n.3410-7C>A)
dbSNP
11g.47332711G>ACA2573146360MYBPC3c.3491-9C>T (n.3491-9C>T)
c.3473-9C>T (n.3473-9C>T)
c.3410-9C>T (n.3410-9C>T)
ClinVar dbSNP
11g.47332712A>GCA2613392513MYBPC3c.3491-10T>C (n.3491-10T>C)
c.3473-10T>C (n.3473-10T>C)
c.3410-10T>C (n.3410-10T>C)
gnomAD v4
11g.47332713C>ACA2613392514MYBPC3c.3491-11G>T (n.3491-11G>T)
c.3473-11G>T (n.3473-11G>T)
c.3410-11G>T (n.3410-11G>T)
gnomAD v4
11g.47332713C>TCA2613392515MYBPC3c.3491-11G>A (n.3491-11G>A)
c.3473-11G>A (n.3473-11G>A)
c.3410-11G>A (n.3410-11G>A)
gnomAD v4
11g.47332716G=CA1969334471MYBPC3c.3491-14C= (n.3491-14C=)
c.3473-14C= (n.3473-14C=)
c.3410-14C= (n.3410-14C=)
11g.47332716G>TCA599374161MYBPC3c.3491-14C>A (n.3491-14C>A)
c.3473-14C>A (n.3473-14C>A)
c.3410-14C>A (n.3410-14C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47332717A>CCA2613392516MYBPC3c.3491-15T>G (n.3491-15T>G)
c.3473-15T>G (n.3473-15T>G)
c.3410-15T>G (n.3410-15T>G)
gnomAD v4
11g.47332718C=CA1969334473MYBPC3c.3491-16G= (n.3491-16G=)
c.3473-16G= (n.3473-16G=)
c.3410-16G= (n.3410-16G=)
11g.47332718C>TCA079410MYBPC3c.3491-16G>A (n.3491-16G>A)
c.3473-16G>A (n.3473-16G>A)
c.3410-16G>A (n.3410-16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332719T>GCA2574815725MYBPC3c.3491-17A>C (n.3491-17A>C)
c.3473-17A>C (n.3473-17A>C)
c.3410-17A>C (n.3410-17A>C)
gnomAD v4
11g.47332721G>CCA2613392517MYBPC3c.3491-19C>G (n.3491-19C>G)
c.3473-19C>G (n.3473-19C>G)
c.3410-19C>G (n.3410-19C>G)
gnomAD v4
11g.47332722G>ACA2613392518MYBPC3c.3491-20C>T (n.3491-20C>T)
c.3473-20C>T (n.3473-20C>T)
c.3410-20C>T (n.3410-20C>T)
gnomAD v4
11g.47332722G>TCA2574815726MYBPC3c.3491-20C>A (n.3491-20C>A)
c.3473-20C>A (n.3473-20C>A)
c.3410-20C>A (n.3410-20C>A)
11g.47332723T>ACA2574815727MYBPC3c.3491-21A>T (n.3491-21A>T)
c.3473-21A>T (n.3473-21A>T)
c.3410-21A>T (n.3410-21A>T)
11g.47332723T>CCA2574815728MYBPC3c.3491-21A>G (n.3491-21A>G)
c.3473-21A>G (n.3473-21A>G)
c.3410-21A>G (n.3410-21A>G)
11g.47332724A>GCA654179119MYBPC3c.3491-22T>C (n.3491-22T>C)
c.3473-22T>C (n.3473-22T>C)
c.3410-22T>C (n.3410-22T>C)
COSMIC
11g.47332726C>ACA677014005MYBPC3c.3491-24G>T (n.3491-24G>T)
c.3473-24G>T (n.3473-24G>T)
c.3410-24G>T (n.3410-24G>T)
dbSNP gnomAD v4
11g.47332726C=CA1969334474MYBPC3c.3491-24G= (n.3491-24G=)
c.3473-24G= (n.3473-24G=)
c.3410-24G= (n.3410-24G=)
11g.47332726C>TCA599374162MYBPC3c.3491-24G>A (n.3491-24G>A)
c.3473-24G>A (n.3473-24G>A)
c.3410-24G>A (n.3410-24G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332727G>ACA079412MYBPC3c.3491-25C>T (n.3491-25C>T)
c.3473-25C>T (n.3473-25C>T)
c.3410-25C>T (n.3410-25C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332727G=CA1969334476MYBPC3c.3491-25C= (n.3491-25C=)
c.3473-25C= (n.3473-25C=)
c.3410-25C= (n.3410-25C=)
11g.47332727G>TCA2613392520MYBPC3c.3491-25C>A (n.3491-25C>A)
c.3473-25C>A (n.3473-25C>A)
c.3410-25C>A (n.3410-25C>A)
gnomAD v4
11g.47332730_47332731delCA2613392519MYBPC3c.3491-26_3491-25del (n.3491-26_3491-25del)
c.3473-26_3473-25del (n.3473-26_3473-25del)
c.3410-26_3410-25del (n.3410-26_3410-25del)
gnomAD v4
11g.47332729G>ACA1969334478MYBPC3c.3491-27C>T (n.3491-27C>T)
c.3473-27C>T (n.3473-27C>T)
c.3410-27C>T (n.3410-27C>T)
dbSNP
11g.47332729G=CA1969334477MYBPC3c.3491-27C= (n.3491-27C=)
c.3473-27C= (n.3473-27C=)
c.3410-27C= (n.3410-27C=)
11g.47332731G>ACA1969334481MYBPC3c.3491-29C>T (n.3491-29C>T)
c.3473-29C>T (n.3473-29C>T)
c.3410-29C>T (n.3410-29C>T)
dbSNP gnomAD v4
11g.47332731G=CA1969334479MYBPC3c.3491-29C= (n.3491-29C=)
c.3473-29C= (n.3473-29C=)
c.3410-29C= (n.3410-29C=)
11g.47332732G>CCA2613392521MYBPC3c.3491-30C>G (n.3491-30C>G)
c.3473-30C>G (n.3473-30C>G)
c.3410-30C>G (n.3410-30C>G)
gnomAD v4
11g.47332733G>TCA2613392522MYBPC3c.3491-31C>A (n.3491-31C>A)
c.3473-31C>A (n.3473-31C>A)
c.3410-31C>A (n.3410-31C>A)
gnomAD v4
11g.47332734C>ACA2613392523MYBPC3c.3491-32G>T (n.3491-32G>T)
c.3473-32G>T (n.3473-32G>T)
c.3410-32G>T (n.3410-32G>T)
gnomAD v4
11g.47332734C=CA1969334482MYBPC3c.3491-32G= (n.3491-32G=)
c.3473-32G= (n.3473-32G=)
c.3410-32G= (n.3410-32G=)
11g.47332734C>TCA937665600MYBPC3c.3491-32G>A (n.3491-32G>A)
c.3473-32G>A (n.3473-32G>A)
c.3410-32G>A (n.3410-32G>A)
dbSNP gnomAD v4
11g.47332735C>GCA2613392524MYBPC3c.3491-33G>C (n.3491-33G>C)
c.3473-33G>C (n.3473-33G>C)
c.3410-33G>C (n.3410-33G>C)
gnomAD v4
11g.47332739C>ACA221682123MYBPC3c.3491-37G>T (n.3491-37G>T)
c.3473-37G>T (n.3473-37G>T)
c.3410-37G>T (n.3410-37G>T)
dbSNP gnomAD v3 gnomAD v4
11g.47332739C=CA1969334483MYBPC3c.3491-37G= (n.3491-37G=)
c.3473-37G= (n.3473-37G=)
c.3410-37G= (n.3410-37G=)
11g.47332739C>GCA599374163MYBPC3c.3491-37G>C (n.3491-37G>C)
c.3473-37G>C (n.3473-37G>C)
c.3410-37G>C (n.3410-37G>C)
dbSNP gnomAD v2 gnomAD v4
11g.47332739C>TCA221682126MYBPC3c.3491-37G>A (n.3491-37G>A)
c.3473-37G>A (n.3473-37G>A)
c.3410-37G>A (n.3410-37G>A)
dbSNP gnomAD v4
11g.47332743G>ACA2613392525MYBPC3c.3491-41C>T (n.3491-41C>T)
c.3473-41C>T (n.3473-41C>T)
c.3410-41C>T (n.3410-41C>T)
gnomAD v4
11g.47332744C>ACA2613392526MYBPC3c.3491-42G>T (n.3491-42G>T)
c.3473-42G>T (n.3473-42G>T)
c.3410-42G>T (n.3410-42G>T)
gnomAD v4
11g.47332746_47332747delinsAGCA1969334485MYBPC3c.3491-45_3491-44delinsCT (n.3491-45_3491-44delinsCT)
c.3473-45_3473-44delinsCT (n.3473-45_3473-44delinsCT)
c.3410-45_3410-44delinsCT (n.3410-45_3410-44delinsCT)
11g.47332747_47332748delCA2613392527MYBPC3c.3491-46_3491-45del (n.3491-46_3491-45del)
c.3473-46_3473-45del (n.3473-46_3473-45del)
c.3410-46_3410-45del (n.3410-46_3410-45del)
gnomAD v4
11g.47332748delCA079414MYBPC3c.3491-45del (n.3491-45del)
c.3473-45del (n.3473-45del)
c.3410-45del (n.3410-45del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47332748G>ACA599374164MYBPC3c.3491-46C>T (n.3491-46C>T)
c.3473-46C>T (n.3473-46C>T)
c.3410-46C>T (n.3410-46C>T)
dbSNP gnomAD v2 gnomAD v4
11g.47332748G=CA1969334487MYBPC3c.3491-46C= (n.3491-46C=)
c.3473-46C= (n.3473-46C=)
c.3410-46C= (n.3410-46C=)
11g.47332748G>TCA937665606MYBPC3c.3491-46C>A (n.3491-46C>A)
c.3473-46C>A (n.3473-46C>A)
c.3410-46C>A (n.3410-46C>A)
dbSNP gnomAD v3 gnomAD v4
11g.47332749C>ACA2613392528MYBPC3c.3491-47G>T (n.3491-47G>T)
c.3473-47G>T (n.3473-47G>T)
c.3410-47G>T (n.3410-47G>T)
gnomAD v4
11g.47332749C=CA1969334488MYBPC3c.3491-47G= (n.3491-47G=)
c.3473-47G= (n.3473-47G=)
c.3410-47G= (n.3410-47G=)
11g.47332749C>TCA599374165MYBPC3c.3491-47G>A (n.3491-47G>A)
c.3473-47G>A (n.3473-47G>A)
c.3410-47G>A (n.3410-47G>A)
dbSNP gnomAD v2 gnomAD v4
11g.47332750C=CA1969334489MYBPC3c.3491-48G= (n.3491-48G=)
c.3473-48G= (n.3473-48G=)
c.3410-48G= (n.3410-48G=)
11g.47332750C>TCA079416MYBPC3c.3491-48G>A (n.3491-48G>A)
c.3473-48G>A (n.3473-48G>A)
c.3410-48G>A (n.3410-48G>A)
dbSNP ExAC gnomAD v4
11g.47332750_47332751insACAGCA2613392529MYBPC3c.3491-49_3491-48insCTGT (n.3491-49_3491-48insCTGT)
c.3473-49_3473-48insCTGT (n.3473-49_3473-48insCTGT)
c.3410-49_3410-48insCTGT (n.3410-49_3410-48insCTGT)
gnomAD v4
11g.47332751C>ACA2613392530MYBPC3c.3491-49G>T (n.3491-49G>T)
c.3473-49G>T (n.3473-49G>T)
c.3410-49G>T (n.3410-49G>T)
gnomAD v4
11g.47332751C>TCA2613392531MYBPC3c.3491-49G>A (n.3491-49G>A)
c.3473-49G>A (n.3473-49G>A)
c.3410-49G>A (n.3410-49G>A)
gnomAD v4
11g.47332752C>ACA2613392533MYBPC3c.3491-50G>T (n.3491-50G>T)
c.3473-50G>T (n.3473-50G>T)
c.3410-50G>T (n.3410-50G>T)
gnomAD v4
11g.47332752C=CA1969334490MYBPC3c.3491-50G= (n.3491-50G=)
c.3473-50G= (n.3473-50G=)
c.3410-50G= (n.3410-50G=)
11g.47332752C>GCA2791331642MYBPC3c.3491-50G>C (n.3491-50G>C)
c.3473-50G>C (n.3473-50G>C)
c.3410-50G>C (n.3410-50G>C)
11g.47332752C>TCA677014020MYBPC3c.3491-50G>A (n.3491-50G>A)
c.3473-50G>A (n.3473-50G>A)
c.3410-50G>A (n.3410-50G>A)
dbSNP gnomAD v4
11g.47332755_47332756delCA2613392532MYBPC3c.3491-51_3491-50del (n.3491-51_3491-50del)
c.3473-51_3473-50del (n.3473-51_3473-50del)
c.3410-51_3410-50del (n.3410-51_3410-50del)
gnomAD v4
11g.47332753delCA2574815729MYBPC3c.3491-51del (n.3491-51del)
c.3473-51del (n.3473-51del)
c.3410-51del (n.3410-51del)
11g.47332753T>GCA2613392534MYBPC3c.3491-51A>C (n.3491-51A>C)
c.3473-51A>C (n.3473-51A>C)
c.3410-51A>C (n.3410-51A>C)
gnomAD v4
11g.47332754C=CA1969334492MYBPC3c.3491-52G= (n.3491-52G=)
c.3473-52G= (n.3473-52G=)
c.3410-52G= (n.3410-52G=)
11g.47332754C>GCA221682132MYBPC3c.3491-52G>C (n.3491-52G>C)
c.3473-52G>C (n.3473-52G>C)
c.3410-52G>C (n.3410-52G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47332754C>TCA221682136MYBPC3c.3491-52G>A (n.3491-52G>A)
c.3473-52G>A (n.3473-52G>A)
c.3410-52G>A (n.3410-52G>A)
dbSNP gnomAD v4
11g.47332756C>ACA2613392535MYBPC3c.3491-54G>T (n.3491-54G>T)
c.3473-54G>T (n.3473-54G>T)
c.3410-54G>T (n.3410-54G>T)
gnomAD v4
11g.47332757C=CA1969334494MYBPC3c.3491-55G= (n.3491-55G=)
c.3473-55G= (n.3473-55G=)
c.3410-55G= (n.3410-55G=)
11g.47332757C>GCA677014031MYBPC3c.3491-55G>C (n.3491-55G>C)
c.3473-55G>C (n.3473-55G>C)
c.3410-55G>C (n.3410-55G>C)
dbSNP gnomAD v4
11g.47332757C>TCA2613392536MYBPC3c.3491-55G>A (n.3491-55G>A)
c.3473-55G>A (n.3473-55G>A)
c.3410-55G>A (n.3410-55G>A)
gnomAD v4
11g.47332758C>TCA2574815730MYBPC3c.3491-56G>A (n.3491-56G>A)
c.3473-56G>A (n.3473-56G>A)
c.3410-56G>A (n.3410-56G>A)
gnomAD v4
11g.47332759T>CCA2574815731MYBPC3c.3490+55A>G (n.3490+55A>G)
c.3472+55A>G (n.3472+55A>G)
c.3409+55A>G (n.3409+55A>G)
gnomAD v4
11g.47332762delCA2613392537MYBPC3c.3490+53del (n.3490+53del)
c.3472+53del (n.3472+53del)
c.3409+53del (n.3409+53del)
gnomAD v4
11g.47332762T>CCA2613392538MYBPC3c.3490+52A>G (n.3490+52A>G)
c.3472+52A>G (n.3472+52A>G)
c.3409+52A>G (n.3409+52A>G)
gnomAD v4
11g.47332763C>ACA2574815732MYBPC3c.3490+51G>T (n.3490+51G>T)
c.3472+51G>T (n.3472+51G>T)
c.3409+51G>T (n.3409+51G>T)
gnomAD v4
11g.47332763C=CA1969334495MYBPC3c.3490+51G= (n.3490+51G=)
c.3472+51G= (n.3472+51G=)
c.3409+51G= (n.3409+51G=)
11g.47332763C>GCA221682140MYBPC3c.3490+51G>C (n.3490+51G>C)
c.3472+51G>C (n.3472+51G>C)
c.3409+51G>C (n.3409+51G>C)
dbSNP gnomAD v3 gnomAD v4
11g.47332763C>TCA2574815733MYBPC3c.3490+51G>A (n.3490+51G>A)
c.3472+51G>A (n.3472+51G>A)
c.3409+51G>A (n.3409+51G>A)
11g.47332764C>ACA2613392539MYBPC3c.3490+50G>T (n.3490+50G>T)
c.3472+50G>T (n.3472+50G>T)
c.3409+50G>T (n.3409+50G>T)
gnomAD v4
11g.47332764C=CA1969334497MYBPC3c.3490+50G= (n.3490+50G=)
c.3472+50G= (n.3472+50G=)
c.3409+50G= (n.3409+50G=)
11g.47332764C>TCA079408MYBPC3c.3490+50G>A (n.3490+50G>A)
c.3472+50G>A (n.3472+50G>A)
c.3409+50G>A (n.3409+50G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47332766A=CA1969334499MYBPC3c.3490+48T= (n.3490+48T=)
c.3472+48T= (n.3472+48T=)
c.3409+48T= (n.3409+48T=)
11g.47332766A>GCA1969334500MYBPC3c.3490+48T>C (n.3490+48T>C)
c.3472+48T>C (n.3472+48T>C)
c.3409+48T>C (n.3409+48T>C)
dbSNP gnomAD v4
11g.47332767C>ACA2613392540MYBPC3c.3490+47G>T (n.3490+47G>T)
c.3472+47G>T (n.3472+47G>T)
c.3409+47G>T (n.3409+47G>T)
gnomAD v4
11g.47332767C>TCA054073MYBPC3c.3490+47G>A (n.3490+47G>A)
c.3472+47G>A (n.3472+47G>A)
c.3409+47G>A (n.3409+47G>A)
11g.47332768A>GCA2613392541MYBPC3c.3490+46T>C (n.3490+46T>C)
c.3472+46T>C (n.3472+46T>C)
c.3409+46T>C (n.3409+46T>C)
gnomAD v4
11g.47332769G>CCA2613392542MYBPC3c.3490+45C>G (n.3490+45C>G)
c.3472+45C>G (n.3472+45C>G)
c.3409+45C>G (n.3409+45C>G)
gnomAD v4
11g.47332769G>TCA2613392543MYBPC3c.3490+45C>A (n.3490+45C>A)
c.3472+45C>A (n.3472+45C>A)
c.3409+45C>A (n.3409+45C>A)
gnomAD v4
11g.47332770C>ACA2613392544MYBPC3c.3490+44G>T (n.3490+44G>T)
c.3472+44G>T (n.3472+44G>T)
c.3409+44G>T (n.3409+44G>T)
gnomAD v4
11g.47332770C=CA1969334502MYBPC3c.3490+44G= (n.3490+44G=)
c.3472+44G= (n.3472+44G=)
c.3409+44G= (n.3409+44G=)
11g.47332770C>TCA599374166MYBPC3c.3490+44G>A (n.3490+44G>A)
c.3472+44G>A (n.3472+44G>A)
c.3409+44G>A (n.3409+44G>A)
dbSNP gnomAD v2
11g.47332771C=CA1969334504MYBPC3c.3490+43G= (n.3490+43G=)
c.3472+43G= (n.3472+43G=)
c.3409+43G= (n.3409+43G=)
11g.47332771C>GCA1969334506MYBPC3c.3490+43G>C (n.3490+43G>C)
c.3472+43G>C (n.3472+43G>C)
c.3409+43G>C (n.3409+43G>C)
dbSNP

Number of alleles fetched