Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47330388_47335387delCA2740090117
11g.47332259_47335041delCA2580084187MYBPC3c.2905+1_3628-1del
c.2887+1_3610-1del
c.2824+1_3547-1del
ClinVar
11g.47332677_47333963delCA2573051316MYBPC3c.2956_3519del
c.2938_3501del
c.2875_3438del
11g.47332675_47335092delCA2573051317MYBPC3c.2855_3518del
c.2837_3500del
c.2774_3437del
11g.47333198_47333217delCA2573146363MYBPC3c.3309_3328del (p.Gln1103HisfsTer?)
c.3291_3310del (p.Gln1097HisfsTer?)
c.3228_3247del (p.Gln1076HisfsTer?)
ClinVar dbSNP
11g.47333211C>ACA380314045MYBPC3c.3313G>T (p.Ala1105Ser)
c.3295G>T (p.Ala1099Ser)
c.3232G>T (p.Ala1078Ser)
gnomAD v4
11g.47333211C>GCA380314047MYBPC3c.3313G>C (p.Ala1105Pro)
c.3295G>C (p.Ala1099Pro)
c.3232G>C (p.Ala1078Pro)
ClinVar dbSNP
11g.47333211C>TCA053426MYBPC3c.3313G>A (p.Ala1105Thr)
c.3295G>A (p.Ala1099Thr)
c.3232G>A (p.Ala1078Thr)
gnomAD v4
11g.47333211_47333212insCCCA915940858MYBPC3c.3313_3314insGG (p.Ala1105GlyfsTer?)
c.3295_3296insGG (p.Ala1099GlyfsTer?)
c.3232_3233insGG (p.Ala1078GlyfsTer?)
ClinVar dbSNP
11g.47333212T>ACA380314050MYBPC3c.3312A>T (p.Lys1104Asn)
c.3294A>T (p.Lys1098Asn)
c.3231A>T (p.Lys1077Asn)
11g.47333212T>CCA474212146MYBPC3c.3312A>G (p.Lys1104=)
c.3294A>G (p.Lys1098=)
c.3231A>G (p.Lys1077=)
gnomAD v4
11g.47333212T>GCA380314052MYBPC3c.3312A>C (p.Lys1104Asn)
c.3294A>C (p.Lys1098Asn)
c.3231A>C (p.Lys1077Asn)
11g.47333213T>ACA380314054MYBPC3c.3311A>T (p.Lys1104Ile)
c.3293A>T (p.Lys1098Ile)
c.3230A>T (p.Lys1077Ile)
11g.47333213T>CCA380314056MYBPC3c.3311A>G (p.Lys1104Arg)
c.3293A>G (p.Lys1098Arg)
c.3230A>G (p.Lys1077Arg)
dbSNP gnomAD v4
11g.47333213T>GCA380314057MYBPC3c.3311A>C (p.Lys1104Thr)
c.3293A>C (p.Lys1098Thr)
c.3230A>C (p.Lys1077Thr)
11g.47333213T=CA1969335189MYBPC3c.3311A= (p.Lys1104=)
c.3293A= (p.Lys1098=)
c.3230A= (p.Lys1077=)
11g.47333214T>ACA380314058MYBPC3c.3310A>T (p.Lys1104Ter)
c.3292A>T (p.Lys1098Ter)
c.3229A>T (p.Lys1077Ter)
11g.47333214T>CCA380314060MYBPC3c.3310A>G (p.Lys1104Glu)
c.3292A>G (p.Lys1098Glu)
c.3229A>G (p.Lys1077Glu)
11g.47333214T>GCA380314062MYBPC3c.3310A>C (p.Lys1104Gln)
c.3292A>C (p.Lys1098Gln)
c.3229A>C (p.Lys1077Gln)
11g.47333215C>ACA380314064MYBPC3c.3309G>T (p.Gln1103His)
c.3291G>T (p.Gln1097His)
c.3228G>T (p.Gln1076His)
gnomAD v4
11g.47333215C=CA1969335194MYBPC3c.3309G= (p.Gln1103=)
c.3291G= (p.Gln1097=)
c.3228G= (p.Gln1076=)
11g.47333215C>GCA221682453MYBPC3c.3309G>C (p.Gln1103His)
c.3291G>C (p.Gln1097His)
c.3228G>C (p.Gln1076His)
dbSNP gnomAD v3 gnomAD v4
11g.47333215C>TCA079280MYBPC3c.3309G>A (p.Gln1103=)
c.3291G>A (p.Gln1097=)
c.3228G>A (p.Gln1076=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333216T>ACA380314069MYBPC3c.3308A>T (p.Gln1103Leu)
c.3290A>T (p.Gln1097Leu)
c.3227A>T (p.Gln1076Leu)
11g.47333216T>CCA380314068MYBPC3c.3308A>G (p.Gln1103Arg)
c.3290A>G (p.Gln1097Arg)
c.3227A>G (p.Gln1076Arg)
11g.47333216T>GCA013870MYBPC3c.3308A>C (p.Gln1103Pro)
c.3290A>C (p.Gln1097Pro)
c.3227A>C (p.Gln1076Pro)
ClinVar dbSNP gnomAD v4
11g.47333216T=CA1969335199MYBPC3c.3308A= (p.Gln1103=)
c.3290A= (p.Gln1097=)
c.3227A= (p.Gln1076=)
11g.47333218_47333224delCA2573146364MYBPC3c.3302_3308del (p.Thr1101ArgfsTer?)
c.3284_3290del (p.Thr1095ArgfsTer?)
c.3221_3227del (p.Thr1074ArgfsTer?)
ClinVar dbSNP
11g.47333217G>ACA380314072MYBPC3c.3307C>T (p.Gln1103Ter)
c.3289C>T (p.Gln1097Ter)
c.3226C>T (p.Gln1076Ter)
gnomAD v4
11g.47333217G>CCA380314075MYBPC3c.3307C>G (p.Gln1103Glu)
c.3289C>G (p.Gln1097Glu)
c.3226C>G (p.Gln1076Glu)
11g.47333217G>TCA380314074MYBPC3c.3307C>A (p.Gln1103Lys)
c.3289C>A (p.Gln1097Lys)
c.3226C>A (p.Gln1076Lys)
gnomAD v4
11g.47333218C>ACA474212147MYBPC3c.3306G>T (p.Val1102=)
c.3288G>T (p.Val1096=)
c.3225G>T (p.Val1075=)
gnomAD v4
11g.47333218C=CA1969335205MYBPC3c.3306G= (p.Val1102=)
c.3288G= (p.Val1096=)
c.3225G= (p.Val1075=)
11g.47333218C>GCA474212148MYBPC3c.3306G>C (p.Val1102=)
c.3288G>C (p.Val1096=)
c.3225G>C (p.Val1075=)
gnomAD v4
11g.47333218C>TCA053393MYBPC3c.3306G>A (p.Val1102=)
c.3288G>A (p.Val1096=)
c.3225G>A (p.Val1075=)
dbSNP gnomAD v4 COSMIC COSMIC
11g.47333219A=CA1969335211MYBPC3c.3305T= (p.Val1102=)
c.3287T= (p.Val1096=)
c.3224T= (p.Val1075=)
11g.47333219A>CCA380314076MYBPC3c.3305T>G (p.Val1102Gly)
c.3287T>G (p.Val1096Gly)
c.3224T>G (p.Val1075Gly)
11g.47333219A>GCA380314078MYBPC3c.3305T>C (p.Val1102Ala)
c.3287T>C (p.Val1096Ala)
c.3224T>C (p.Val1075Ala)
ClinVar dbSNP gnomAD v4
11g.47333219A>TCA013860MYBPC3c.3305T>A (p.Val1102Glu)
c.3287T>A (p.Val1096Glu)
c.3224T>A (p.Val1075Glu)
ClinVar dbSNP
11g.47333220C>ACA380314080MYBPC3c.3304G>T (p.Val1102Leu)
c.3286G>T (p.Val1096Leu)
c.3223G>T (p.Val1075Leu)
11g.47333220C=CA1969335216MYBPC3c.3304G= (p.Val1102=)
c.3286G= (p.Val1096=)
c.3223G= (p.Val1075=)
11g.47333220C>GCA380314082MYBPC3c.3304G>C (p.Val1102Leu)
c.3286G>C (p.Val1096Leu)
c.3223G>C (p.Val1075Leu)
gnomAD v4
11g.47333220C>TCA380314084MYBPC3c.3304G>A (p.Val1102Met)
c.3286G>A (p.Val1096Met)
c.3223G>A (p.Val1075Met)
dbSNP gnomAD v2 gnomAD v4
11g.47333220_47333221delCA2697548539MYBPC3c.3303_3304del (p.Val1102AlafsTer?)
c.3285_3286del (p.Val1096AlafsTer?)
c.3222_3223del (p.Val1075AlafsTer?)
ClinVar
11g.47333220_47333222delinsCTGCA1969335217MYBPC3c.3302_3304delinsCAG (p.Thr1101=)
c.3284_3286delinsCAG (p.Thr1095=)
c.3221_3223delinsCAG (p.Thr1074=)
11g.47333221T>ACA474212149MYBPC3c.3303A>T (p.Thr1101=)
c.3285A>T (p.Thr1095=)
c.3222A>T (p.Thr1074=)
dbSNP
11g.47333221T>CCA079278MYBPC3c.3303A>G (p.Thr1101=)
c.3285A>G (p.Thr1095=)
c.3222A>G (p.Thr1074=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333221T>GCA474212150MYBPC3c.3303A>C (p.Thr1101=)
c.3285A>C (p.Thr1095=)
c.3222A>C (p.Thr1074=)
gnomAD v4
11g.47333221T=CA1969335226MYBPC3c.3303A= (p.Thr1101=)
c.3285A= (p.Thr1095=)
c.3222A= (p.Thr1074=)
11g.47333221_47333222delinsTGCA1969335223MYBPC3c.3302_3303delinsCA (p.Thr1101=)
c.3284_3285delinsCA (p.Thr1095=)
c.3221_3222delinsCA (p.Thr1074=)
11g.47333224_47333225delCA013844MYBPC3c.3302_3303del (p.Thr1101SerfsTer?)
c.3284_3285del (p.Thr1095SerfsTer?)
c.3221_3222del (p.Thr1074SerfsTer?)
ClinVar dbSNP
11g.47333222delCA013852MYBPC3c.3302del (p.Thr1101LysfsTer?)
c.3284del (p.Thr1095LysfsTer?)
c.3221del (p.Thr1074LysfsTer?)
ClinVar dbSNP
11g.47333222G>ACA380314088MYBPC3c.3302C>T (p.Thr1101Ile)
c.3284C>T (p.Thr1095Ile)
c.3221C>T (p.Thr1074Ile)
ClinVar dbSNP gnomAD v4
11g.47333222G>CCA380314089MYBPC3c.3302C>G (p.Thr1101Arg)
c.3284C>G (p.Thr1095Arg)
c.3221C>G (p.Thr1074Arg)
dbSNP
11g.47333222G=CA1969335232MYBPC3c.3302C= (p.Thr1101=)
c.3284C= (p.Thr1095=)
c.3221C= (p.Thr1074=)
11g.47333222G>TCA380314091MYBPC3c.3302C>A (p.Thr1101Lys)
c.3284C>A (p.Thr1095Lys)
c.3221C>A (p.Thr1074Lys)
gnomAD v4
11g.47333223T>ACA380314098MYBPC3c.3301A>T (p.Thr1101Ser)
c.3283A>T (p.Thr1095Ser)
c.3220A>T (p.Thr1074Ser)
11g.47333223T>CCA380314094MYBPC3c.3301A>G (p.Thr1101Ala)
c.3283A>G (p.Thr1095Ala)
c.3220A>G (p.Thr1074Ala)
ClinVar dbSNP gnomAD v4
11g.47333223T>GCA380314096MYBPC3c.3301A>C (p.Thr1101Pro)
c.3283A>C (p.Thr1095Pro)
c.3220A>C (p.Thr1074Pro)
11g.47333223T=CA1969335236MYBPC3c.3301A= (p.Thr1101=)
c.3283A= (p.Thr1095=)
c.3220A= (p.Thr1074=)
11g.47333224delCA2695213923MYBPC3c.3300del (p.Tyr1100Ter)
c.3282del (p.Tyr1094Ter)
c.3219del (p.Tyr1073Ter)
11g.47333224G>ACA474212152MYBPC3c.3300C>T (p.Tyr1100=)
c.3282C>T (p.Tyr1094=)
c.3219C>T (p.Tyr1073=)
dbSNP gnomAD v4
11g.47333224G>CCA380314100MYBPC3c.3300C>G (p.Tyr1100Ter)
c.3282C>G (p.Tyr1094Ter)
c.3219C>G (p.Tyr1073Ter)
11g.47333224G=CA1969335243MYBPC3c.3300C= (p.Tyr1100=)
c.3282C= (p.Tyr1094=)
c.3219C= (p.Tyr1073=)
11g.47333224G>TCA279299MYBPC3c.3300C>A (p.Tyr1100Ter)
c.3282C>A (p.Tyr1094Ter)
c.3219C>A (p.Tyr1073Ter)
ClinVar dbSNP gnomAD v4
11g.47333225T>ACA079275MYBPC3c.3299A>T (p.Tyr1100Phe)
c.3281A>T (p.Tyr1094Phe)
c.3218A>T (p.Tyr1073Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333225T>CCA380314103MYBPC3c.3299A>G (p.Tyr1100Cys)
c.3281A>G (p.Tyr1094Cys)
c.3218A>G (p.Tyr1073Cys)
gnomAD v4
11g.47333225T>GCA380314105MYBPC3c.3299A>C (p.Tyr1100Ser)
c.3281A>C (p.Tyr1094Ser)
c.3218A>C (p.Tyr1073Ser)
11g.47333225T=CA1969335250MYBPC3c.3299A= (p.Tyr1100=)
c.3281A= (p.Tyr1094=)
c.3218A= (p.Tyr1073=)
11g.47333225_47333226insCCA2695213924MYBPC3c.3298_3299insG (p.Tyr1100Ter)
c.3280_3281insG (p.Tyr1094Ter)
c.3217_3218insG (p.Tyr1073Ter)
11g.47333226A=CA1969335254MYBPC3c.3298T= (p.Tyr1100=)
c.3280T= (p.Tyr1094=)
c.3217T= (p.Tyr1073=)
11g.47333226A>CCA380314107MYBPC3c.3298T>G (p.Tyr1100Asp)
c.3280T>G (p.Tyr1094Asp)
c.3217T>G (p.Tyr1073Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333226A>GCA380314109MYBPC3c.3298T>C (p.Tyr1100His)
c.3280T>C (p.Tyr1094His)
c.3217T>C (p.Tyr1073His)
gnomAD v4
11g.47333226A>TCA079274MYBPC3c.3298T>A (p.Tyr1100Asn)
c.3280T>A (p.Tyr1094Asn)
c.3217T>A (p.Tyr1073Asn)
dbSNP ExAC
11g.47333227C>ACA474212157MYBPC3c.3297G>T (p.Gly1099=)
c.3279G>T (p.Gly1093=)
c.3216G>T (p.Gly1072=)
ClinVar dbSNP gnomAD v4
11g.47333227C=CA1969335260MYBPC3c.3297G= (p.Gly1099=)
c.3279G= (p.Gly1093=)
c.3216G= (p.Gly1072=)
11g.47333227C>GCA474212158MYBPC3c.3297G>C (p.Gly1099=)
c.3279G>C (p.Gly1093=)
c.3216G>C (p.Gly1072=)
dbSNP
11g.47333227C>TCA079272MYBPC3c.3297G>A (p.Gly1099=)
c.3279G>A (p.Gly1093=)
c.3216G>A (p.Gly1072=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333231dupCA013831MYBPC3c.3297dup (p.Tyr1100ValfsTer?)
c.3279dup (p.Tyr1094ValfsTer?)
c.3216dup (p.Tyr1073ValfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333231delCA2613393325MYBPC3c.3297del (p.Tyr1100ThrfsTer?)
c.3279del (p.Tyr1094ThrfsTer?)
c.3216del (p.Tyr1073ThrfsTer?)
gnomAD v4
11g.47333230_47333231delCA915940862MYBPC3c.3296_3297del (p.Gly1099ValfsTer?)
c.3278_3279del (p.Gly1093ValfsTer?)
c.3215_3216del (p.Gly1072ValfsTer?)
11g.47333228C>ACA380314116MYBPC3c.3296G>T (p.Gly1099Val)
c.3278G>T (p.Gly1093Val)
c.3215G>T (p.Gly1072Val)
gnomAD v4
11g.47333228C=CA1969335263MYBPC3c.3296G= (p.Gly1099=)
c.3278G= (p.Gly1093=)
c.3215G= (p.Gly1072=)
11g.47333228C>GCA380314115MYBPC3c.3296G>C (p.Gly1099Ala)
c.3278G>C (p.Gly1093Ala)
c.3215G>C (p.Gly1072Ala)
gnomAD v4
11g.47333228C>TCA380314113MYBPC3c.3296G>A (p.Gly1099Glu)
c.3278G>A (p.Gly1093Glu)
c.3215G>A (p.Gly1072Glu)
dbSNP gnomAD v2 gnomAD v4
11g.47333229C>ACA380314118MYBPC3c.3295G>T (p.Gly1099Trp)
c.3277G>T (p.Gly1093Trp)
c.3214G>T (p.Gly1072Trp)
ClinVar dbSNP
11g.47333229C=CA1969335265MYBPC3c.3295G= (p.Gly1099=)
c.3277G= (p.Gly1093=)
c.3214G= (p.Gly1072=)
11g.47333229C>GCA16619333MYBPC3c.3295G>C (p.Gly1099Arg)
c.3277G>C (p.Gly1093Arg)
c.3214G>C (p.Gly1072Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333229C>TCA380314121MYBPC3c.3295G>A (p.Gly1099Arg)
c.3277G>A (p.Gly1093Arg)
c.3214G>A (p.Gly1072Arg)
gnomAD v4
11g.47333230C>ACA079269MYBPC3c.3294G>T (p.Trp1098Cys)
c.3276G>T (p.Trp1092Cys)
c.3213G>T (p.Trp1071Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333230C=CA1969335267MYBPC3c.3294G= (p.Trp1098=)
c.3276G= (p.Trp1092=)
c.3213G= (p.Trp1071=)
11g.47333230C>GCA380314124MYBPC3c.3294G>C (p.Trp1098Cys)
c.3276G>C (p.Trp1092Cys)
c.3213G>C (p.Trp1071Cys)
ClinVar dbSNP gnomAD v4
11g.47333230C>TCA053346MYBPC3c.3294G>A (p.Trp1098Ter)
c.3276G>A (p.Trp1092Ter)
c.3213G>A (p.Trp1071Ter)
ClinVar dbSNP gnomAD v4
11g.47333231C>ACA013821MYBPC3c.3293G>T (p.Trp1098Leu)
c.3275G>T (p.Trp1092Leu)
c.3212G>T (p.Trp1071Leu)
ClinVar dbSNP gnomAD v4
11g.47333231C=CA1969335270MYBPC3c.3293G= (p.Trp1098=)
c.3275G= (p.Trp1092=)
c.3212G= (p.Trp1071=)
11g.47333231C>GCA380314128MYBPC3c.3293G>C (p.Trp1098Ser)
c.3275G>C (p.Trp1092Ser)
c.3212G>C (p.Trp1071Ser)
11g.47333231C>TCA013817MYBPC3c.3293G>A (p.Trp1098Ter)
c.3275G>A (p.Trp1092Ter)
c.3212G>A (p.Trp1071Ter)
ClinVar dbSNP
11g.47333232A>CCA380314131MYBPC3c.3292T>G (p.Trp1098Gly)
c.3274T>G (p.Trp1092Gly)
c.3211T>G (p.Trp1071Gly)
gnomAD v4
11g.47333232A>GCA380314133MYBPC3c.3292T>C (p.Trp1098Arg)
c.3274T>C (p.Trp1092Arg)
c.3211T>C (p.Trp1071Arg)
dbSNP gnomAD v4
11g.47333232A>TCA380314134MYBPC3c.3292T>A (p.Trp1098Arg)
c.3274T>A (p.Trp1092Arg)
c.3211T>A (p.Trp1071Arg)
11g.47333233G>ACA474212164MYBPC3c.3291C>T (p.Leu1097=)
c.3273C>T (p.Leu1091=)
c.3210C>T (p.Leu1070=)
gnomAD v4
11g.47333233G>CCA474212165MYBPC3c.3291C>G (p.Leu1097=)
c.3273C>G (p.Leu1091=)
c.3210C>G (p.Leu1070=)
11g.47333233G>TCA474212163MYBPC3c.3291C>A (p.Leu1097=)
c.3273C>A (p.Leu1091=)
c.3210C>A (p.Leu1070=)
11g.47333234A>CCA380314140MYBPC3c.3290T>G (p.Leu1097Arg)
c.3272T>G (p.Leu1091Arg)
c.3209T>G (p.Leu1070Arg)
11g.47333234A>GCA380314138MYBPC3c.3290T>C (p.Leu1097Pro)
c.3272T>C (p.Leu1091Pro)
c.3209T>C (p.Leu1070Pro)
ClinVar
11g.47333234A>TCA380314137MYBPC3c.3290T>A (p.Leu1097His)
c.3272T>A (p.Leu1091His)
c.3209T>A (p.Leu1070His)
11g.47333235G>ACA380314142MYBPC3c.3289C>T (p.Leu1097Phe)
c.3271C>T (p.Leu1091Phe)
c.3208C>T (p.Leu1070Phe)
gnomAD v4
11g.47333235G>CCA380314144MYBPC3c.3289C>G (p.Leu1097Val)
c.3271C>G (p.Leu1091Val)
c.3208C>G (p.Leu1070Val)
11g.47333235G=CA1969335272MYBPC3c.3289C= (p.Leu1097=)
c.3271C= (p.Leu1091=)
c.3208C= (p.Leu1070=)
11g.47333235G>TCA380314145MYBPC3c.3289C>A (p.Leu1097Ile)
c.3271C>A (p.Leu1091Ile)
c.3208C>A (p.Leu1070Ile)
dbSNP gnomAD v4
11g.47333235_47333236delinsGCCA1969335273MYBPC3c.3288_3289delinsGC (p.Glu1096=)
c.3270_3271delinsGC (p.Glu1090=)
c.3207_3208delinsGC (p.Glu1069=)
11g.47333236delCA013802MYBPC3c.3288del (p.Glu1096AspfsTer?)
c.3270del (p.Glu1090AspfsTer?)
c.3207del (p.Glu1069AspfsTer?)
ClinVar dbSNP
11g.47333236C>ACA380314147MYBPC3c.3288G>T (p.Glu1096Asp)
c.3270G>T (p.Glu1090Asp)
c.3207G>T (p.Glu1069Asp)
11g.47333236C=CA1630848693MYBPC3c.3288G= (p.Glu1096=)
c.3270G= (p.Glu1090=)
c.3207G= (p.Glu1069=)
11g.47333236C>GCA380314148MYBPC3c.3288G>C (p.Glu1096Asp)
c.3270G>C (p.Glu1090Asp)
c.3207G>C (p.Glu1069Asp)
11g.47333236C>TCA013807MYBPC3c.3288G>A (p.Glu1096=)
c.3270G>A (p.Glu1090=)
c.3207G>A (p.Glu1069=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333237T>ACA380314151MYBPC3c.3287A>T (p.Glu1096Val)
c.3269A>T (p.Glu1090Val)
c.3206A>T (p.Glu1069Val)
ClinVar gnomAD v4
11g.47333237T>CCA380314153MYBPC3c.3287A>G (p.Glu1096Gly)
c.3269A>G (p.Glu1090Gly)
c.3206A>G (p.Glu1069Gly)
gnomAD v4
11g.47333237T>GCA380314155MYBPC3c.3287A>C (p.Glu1096Ala)
c.3269A>C (p.Glu1090Ala)
c.3206A>C (p.Glu1069Ala)
gnomAD v4
11g.47333238C>ACA013793MYBPC3c.3286G>T (p.Glu1096Ter)
c.3268G>T (p.Glu1090Ter)
c.3205G>T (p.Glu1069Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333238C=CA1969335278MYBPC3c.3286G= (p.Glu1096=)
c.3268G= (p.Glu1090=)
c.3205G= (p.Glu1069=)
11g.47333238C>GCA380314158MYBPC3c.3286G>C (p.Glu1096Gln)
c.3268G>C (p.Glu1090Gln)
c.3205G>C (p.Glu1069Gln)
11g.47333238C>TCA079267MYBPC3c.3286G>A (p.Glu1096Lys)
c.3268G>A (p.Glu1090Lys)
c.3205G>A (p.Glu1069Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333239C>ACA474212169MYBPC3c.3285G>T (p.Thr1095=)
c.3267G>T (p.Thr1089=)
c.3204G>T (p.Thr1068=)
gnomAD v4
11g.47333239C=CA1969335283MYBPC3c.3285G= (p.Thr1095=)
c.3267G= (p.Thr1089=)
c.3204G= (p.Thr1068=)
11g.47333239C>GCA013787MYBPC3c.3285G>C (p.Thr1095=)
c.3267G>C (p.Thr1089=)
c.3204G>C (p.Thr1068=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333239C>TCA013778MYBPC3c.3285G>A (p.Thr1095=)
c.3267G>A (p.Thr1089=)
c.3204G>A (p.Thr1068=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333240G>ACA079262MYBPC3c.3284C>T (p.Thr1095Met)
c.3266C>T (p.Thr1089Met)
c.3203C>T (p.Thr1068Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333240G>CCA380314164MYBPC3c.3284C>G (p.Thr1095Arg)
c.3266C>G (p.Thr1089Arg)
c.3203C>G (p.Thr1068Arg)
11g.47333240G=CA1969335285MYBPC3c.3284C= (p.Thr1095=)
c.3266C= (p.Thr1089=)
c.3203C= (p.Thr1068=)
11g.47333240G>TCA380314163MYBPC3c.3284C>A (p.Thr1095Lys)
c.3266C>A (p.Thr1089Lys)
c.3203C>A (p.Thr1068Lys)
gnomAD v4
11g.47333241T>ACA380314167MYBPC3c.3283A>T (p.Thr1095Ser)
c.3265A>T (p.Thr1089Ser)
c.3202A>T (p.Thr1068Ser)
11g.47333241T>CCA380314170MYBPC3c.3283A>G (p.Thr1095Ala)
c.3265A>G (p.Thr1089Ala)
c.3202A>G (p.Thr1068Ala)
11g.47333241T>GCA380314169MYBPC3c.3283A>C (p.Thr1095Pro)
c.3265A>C (p.Thr1089Pro)
c.3202A>C (p.Thr1068Pro)
11g.47333242G>ACA474212170MYBPC3c.3282C>T (p.Asn1094=)
c.3264C>T (p.Asn1088=)
c.3201C>T (p.Asn1067=)
dbSNP gnomAD v4
11g.47333242G>CCA380314172MYBPC3c.3282C>G (p.Asn1094Lys)
c.3264C>G (p.Asn1088Lys)
c.3201C>G (p.Asn1067Lys)
11g.47333242G=CA1969335287MYBPC3c.3282C= (p.Asn1094=)
c.3264C= (p.Asn1088=)
c.3201C= (p.Asn1067=)
11g.47333242G>TCA380314175MYBPC3c.3282C>A (p.Asn1094Lys)
c.3264C>A (p.Asn1088Lys)
c.3201C>A (p.Asn1067Lys)
11g.47333243T>ACA013770MYBPC3c.3281A>T (p.Asn1094Ile)
c.3263A>T (p.Asn1088Ile)
c.3200A>T (p.Asn1067Ile)
ClinVar dbSNP
11g.47333243T>CCA380314178MYBPC3c.3281A>G (p.Asn1094Ser)
c.3263A>G (p.Asn1088Ser)
c.3200A>G (p.Asn1067Ser)
11g.47333243T>GCA380314180MYBPC3c.3281A>C (p.Asn1094Thr)
c.3263A>C (p.Asn1088Thr)
c.3200A>C (p.Asn1067Thr)
11g.47333243T=CA1969335289MYBPC3c.3281A= (p.Asn1094=)
c.3263A= (p.Asn1088=)
c.3200A= (p.Asn1067=)
11g.47333244T>ACA380314182MYBPC3c.3280A>T (p.Asn1094Tyr)
c.3262A>T (p.Asn1088Tyr)
c.3199A>T (p.Asn1067Tyr)
11g.47333244T>CCA380314184MYBPC3c.3280A>G (p.Asn1094Asp)
c.3262A>G (p.Asn1088Asp)
c.3199A>G (p.Asn1067Asp)
11g.47333244T>GCA380314186MYBPC3c.3280A>C (p.Asn1094His)
c.3262A>C (p.Asn1088His)
c.3199A>C (p.Asn1067His)
gnomAD v4
11g.47333244_47333251delinsGTGTACCCCCAGAGTCA2580084224MYBPC3c.3273_3280delinsACTCTGGGGGTACAC (p.Asp1091GlufsTer?)
c.3255_3262delinsACTCTGGGGGTACAC (p.Asp1085GlufsTer?)
c.3192_3199delinsACTCTGGGGGTACAC (p.Asp1064GlufsTer?)
ClinVar
11g.47333244_47333256delCA2791330963MYBPC3c.3268_3280del (p.Gln1090ThrfsTer?)
c.3250_3262del (p.Gln1084ThrfsTer?)
c.3187_3199del (p.Gln1063ThrfsTer?)
11g.47333245G>ACA013761MYBPC3c.3279C>T (p.Gly1093=)
c.3261C>T (p.Gly1087=)
c.3198C>T (p.Gly1066=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333245G>CCA474212174MYBPC3c.3279C>G (p.Gly1093=)
c.3261C>G (p.Gly1087=)
c.3198C>G (p.Gly1066=)
11g.47333245G=CA1969335292MYBPC3c.3279C= (p.Gly1093=)
c.3261C= (p.Gly1087=)
c.3198C= (p.Gly1066=)
11g.47333245G>TCA474212175MYBPC3c.3279C>A (p.Gly1093=)
c.3261C>A (p.Gly1087=)
c.3198C>A (p.Gly1066=)
gnomAD v4
11g.47333246C>ACA380314190MYBPC3c.3278G>T (p.Gly1093Val)
c.3260G>T (p.Gly1087Val)
c.3197G>T (p.Gly1066Val)
dbSNP gnomAD v2 gnomAD v4
11g.47333246C=CA1969335295MYBPC3c.3278G= (p.Gly1093=)
c.3260G= (p.Gly1087=)
c.3197G= (p.Gly1066=)
11g.47333246C>GCA380314192MYBPC3c.3278G>C (p.Gly1093Ala)
c.3260G>C (p.Gly1087Ala)
c.3197G>C (p.Gly1066Ala)
gnomAD v4
11g.47333246C>TCA380314194MYBPC3c.3278G>A (p.Gly1093Asp)
c.3260G>A (p.Gly1087Asp)
c.3197G>A (p.Gly1066Asp)
gnomAD v4
11g.47333247C>ACA013754MYBPC3c.3277G>T (p.Gly1093Cys)
c.3259G>T (p.Gly1087Cys)
c.3196G>T (p.Gly1066Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333247C=CA1969335297MYBPC3c.3277G= (p.Gly1093=)
c.3259G= (p.Gly1087=)
c.3196G= (p.Gly1066=)
11g.47333247C>GCA380314197MYBPC3c.3277G>C (p.Gly1093Arg)
c.3259G>C (p.Gly1087Arg)
c.3196G>C (p.Gly1066Arg)
11g.47333247C>TCA380314196MYBPC3c.3277G>A (p.Gly1093Ser)
c.3259G>A (p.Gly1087Ser)
c.3196G>A (p.Gly1066Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333248G>ACA013744MYBPC3c.3276C>T (p.Val1092=)
c.3258C>T (p.Val1086=)
c.3195C>T (p.Val1065=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333248G>CCA474212178MYBPC3c.3276C>G (p.Val1092=)
c.3258C>G (p.Val1086=)
c.3195C>G (p.Val1065=)
11g.47333248G=CA1969335300MYBPC3c.3276C= (p.Val1092=)
c.3258C= (p.Val1086=)
c.3195C= (p.Val1065=)
11g.47333248G>TCA221682501MYBPC3c.3276C>A (p.Val1092=)
c.3258C>A (p.Val1086=)
c.3195C>A (p.Val1065=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333249A=CA1969335302MYBPC3c.3275T= (p.Val1092=)
c.3257T= (p.Val1086=)
c.3194T= (p.Val1065=)
11g.47333249A>CCA380314199MYBPC3c.3275T>G (p.Val1092Gly)
c.3257T>G (p.Val1086Gly)
c.3194T>G (p.Val1065Gly)
11g.47333249A>GCA380314201MYBPC3c.3275T>C (p.Val1092Ala)
c.3257T>C (p.Val1086Ala)
c.3194T>C (p.Val1065Ala)
gnomAD v4
11g.47333249A>TCA380314202MYBPC3c.3275T>A (p.Val1092Asp)
c.3257T>A (p.Val1086Asp)
c.3194T>A (p.Val1065Asp)
dbSNP
11g.47333250C>ACA053259MYBPC3c.3274G>T (p.Val1092Phe)
c.3256G>T (p.Val1086Phe)
c.3193G>T (p.Val1065Phe)
11g.47333250C=CA1969335304MYBPC3c.3274G= (p.Val1092=)
c.3256G= (p.Val1086=)
c.3193G= (p.Val1065=)
11g.47333250C>GCA380314205MYBPC3c.3274G>C (p.Val1092Leu)
c.3256G>C (p.Val1086Leu)
c.3193G>C (p.Val1065Leu)
11g.47333250C>TCA079256MYBPC3c.3274G>A (p.Val1092Ile)
c.3256G>A (p.Val1086Ile)
c.3193G>A (p.Val1065Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333251A>CCA380314207MYBPC3c.3273T>G (p.Asp1091Glu)
c.3255T>G (p.Asp1085Glu)
c.3192T>G (p.Asp1064Glu)
11g.47333251A>GCA474212181MYBPC3c.3273T>C (p.Asp1091=)
c.3255T>C (p.Asp1085=)
c.3192T>C (p.Asp1064=)
11g.47333251A>TCA380314209MYBPC3c.3273T>A (p.Asp1091Glu)
c.3255T>A (p.Asp1085Glu)
c.3192T>A (p.Asp1064Glu)
11g.47333252T>ACA380314215MYBPC3c.3272A>T (p.Asp1091Val)
c.3254A>T (p.Asp1085Val)
c.3191A>T (p.Asp1064Val)
ClinVar dbSNP
11g.47333252T>CCA380314213MYBPC3c.3272A>G (p.Asp1091Gly)
c.3254A>G (p.Asp1085Gly)
c.3191A>G (p.Asp1064Gly)
gnomAD v4
11g.47333252T>GCA380314212MYBPC3c.3272A>C (p.Asp1091Ala)
c.3254A>C (p.Asp1085Ala)
c.3191A>C (p.Asp1064Ala)
11g.47333252T=CA1969335306MYBPC3c.3272A= (p.Asp1091=)
c.3254A= (p.Asp1085=)
c.3191A= (p.Asp1064=)
11g.47333253C>ACA380314218MYBPC3c.3271G>T (p.Asp1091Tyr)
c.3253G>T (p.Asp1085Tyr)
c.3190G>T (p.Asp1064Tyr)
gnomAD v4
11g.47333253C>GCA380314219MYBPC3c.3271G>C (p.Asp1091His)
c.3253G>C (p.Asp1085His)
c.3190G>C (p.Asp1064His)
gnomAD v4
11g.47333253C>TCA053241MYBPC3c.3271G>A (p.Asp1091Asn)
c.3253G>A (p.Asp1085Asn)
c.3190G>A (p.Asp1064Asn)
11g.47333254delCA2695213925MYBPC3c.3271del (p.Asp1091MetfsTer?)
c.3253del (p.Asp1085MetfsTer?)
c.3190del (p.Asp1064MetfsTer?)
11g.47333254C>ACA380314222MYBPC3c.3270G>T (p.Gln1090His)
c.3252G>T (p.Gln1084His)
c.3189G>T (p.Gln1063His)
gnomAD v4
11g.47333254C=CA1969335309MYBPC3c.3270G= (p.Gln1090=)
c.3252G= (p.Gln1084=)
c.3189G= (p.Gln1063=)
11g.47333254C>GCA380314224MYBPC3c.3270G>C (p.Gln1090His)
c.3252G>C (p.Gln1084His)
c.3189G>C (p.Gln1063His)
11g.47333254C>TCA474212182MYBPC3c.3270G>A (p.Gln1090=)
c.3252G>A (p.Gln1084=)
c.3189G>A (p.Gln1063=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333255T>ACA380314225MYBPC3c.3269A>T (p.Gln1090Leu)
c.3251A>T (p.Gln1084Leu)
c.3188A>T (p.Gln1063Leu)
gnomAD v4
11g.47333255T>CCA380314227MYBPC3c.3269A>G (p.Gln1090Arg)
c.3251A>G (p.Gln1084Arg)
c.3188A>G (p.Gln1063Arg)
ClinVar gnomAD v4
11g.47333255T>GCA380314229MYBPC3c.3269A>C (p.Gln1090Pro)
c.3251A>C (p.Gln1084Pro)
c.3188A>C (p.Gln1063Pro)
gnomAD v4
11g.47333255_47333256delinsTGCA1969335310MYBPC3c.3268_3269delinsCA (p.Gln1090=)
c.3250_3251delinsCA (p.Gln1084=)
c.3187_3188delinsCA (p.Gln1063=)
11g.47333258_47333262delCA2580084226MYBPC3c.3265_3269del (p.Pro1089GlyfsTer?)
c.3247_3251del (p.Pro1083GlyfsTer?)
c.3184_3188del (p.Pro1062GlyfsTer?)
ClinVar
11g.47333256G>ACA380314231MYBPC3c.3268C>T (p.Gln1090Ter)
c.3250C>T (p.Gln1084Ter)
c.3187C>T (p.Gln1063Ter)
gnomAD v4
11g.47333256G>CCA380314233MYBPC3c.3268C>G (p.Gln1090Glu)
c.3250C>G (p.Gln1084Glu)
c.3187C>G (p.Gln1063Glu)
11g.47333256G>TCA380314234MYBPC3c.3268C>A (p.Gln1090Lys)
c.3250C>A (p.Gln1084Lys)
c.3187C>A (p.Gln1063Lys)
gnomAD v4
11g.47333259delCA1139659389MYBPC3c.3268del (p.Gln1090ArgfsTer?)
c.3250del (p.Gln1084ArgfsTer?)
c.3187del (p.Gln1063ArgfsTer?)
ClinVar dbSNP
11g.47333257G>ACA474212187MYBPC3c.3267C>T (p.Pro1089=)
c.3249C>T (p.Pro1083=)
c.3186C>T (p.Pro1062=)
dbSNP gnomAD v2
11g.47333257G>CCA474212185MYBPC3c.3267C>G (p.Pro1089=)
c.3249C>G (p.Pro1083=)
c.3186C>G (p.Pro1062=)
11g.47333257G=CA1969335314MYBPC3c.3267C= (p.Pro1089=)
c.3249C= (p.Pro1083=)
c.3186C= (p.Pro1062=)
11g.47333257G>TCA079254MYBPC3c.3267C>A (p.Pro1089=)
c.3249C>A (p.Pro1083=)
c.3186C>A (p.Pro1062=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333258G>ACA380314240MYBPC3c.3266C>T (p.Pro1089Leu)
c.3248C>T (p.Pro1083Leu)
c.3185C>T (p.Pro1062Leu)
dbSNP gnomAD v2 gnomAD v4
11g.47333258G>CCA380314237MYBPC3c.3266C>G (p.Pro1089Arg)
c.3248C>G (p.Pro1083Arg)
c.3185C>G (p.Pro1062Arg)
11g.47333258G=CA1969335316MYBPC3c.3266C= (p.Pro1089=)
c.3248C= (p.Pro1083=)
c.3185C= (p.Pro1062=)
11g.47333258G>TCA380314238MYBPC3c.3266C>A (p.Pro1089His)
c.3248C>A (p.Pro1083His)
c.3185C>A (p.Pro1062His)
gnomAD v4
11g.47333259G>ACA380314243MYBPC3c.3265C>T (p.Pro1089Ser)
c.3247C>T (p.Pro1083Ser)
c.3184C>T (p.Pro1062Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47333259G>CCA380314244MYBPC3c.3265C>G (p.Pro1089Ala)
c.3247C>G (p.Pro1083Ala)
c.3184C>G (p.Pro1062Ala)
gnomAD v4
11g.47333259G=CA1969335318MYBPC3c.3265C= (p.Pro1089=)
c.3247C= (p.Pro1083=)
c.3184C= (p.Pro1062=)
11g.47333259G>TCA380314246MYBPC3c.3265C>A (p.Pro1089Thr)
c.3247C>A (p.Pro1083Thr)
c.3184C>A (p.Pro1062Thr)
11g.47333260T>ACA079251MYBPC3c.3264A>T (p.Pro1088=)
c.3246A>T (p.Pro1082=)
c.3183A>T (p.Pro1061=)
dbSNP ExAC
11g.47333260T>CCA221682508MYBPC3c.3264A>G (p.Pro1088=)
c.3246A>G (p.Pro1082=)
c.3183A>G (p.Pro1061=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333260T>GCA474212190MYBPC3c.3264A>C (p.Pro1088=)
c.3246A>C (p.Pro1082=)
c.3183A>C (p.Pro1061=)
11g.47333260T=CA1969335320MYBPC3c.3264A= (p.Pro1088=)
c.3246A= (p.Pro1082=)
c.3183A= (p.Pro1061=)
11g.47333261G>ACA380314249MYBPC3c.3263C>T (p.Pro1088Leu)
c.3245C>T (p.Pro1082Leu)
c.3182C>T (p.Pro1061Leu)
11g.47333261G>CCA380314251MYBPC3c.3263C>G (p.Pro1088Arg)
c.3245C>G (p.Pro1082Arg)
c.3182C>G (p.Pro1061Arg)
11g.47333261G>TCA380314253MYBPC3c.3263C>A (p.Pro1088Gln)
c.3245C>A (p.Pro1082Gln)
c.3182C>A (p.Pro1061Gln)
gnomAD v4
11g.47333262G>ACA380314255MYBPC3c.3262C>T (p.Pro1088Ser)
c.3244C>T (p.Pro1082Ser)
c.3181C>T (p.Pro1061Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47333262G>CCA380314258MYBPC3c.3262C>G (p.Pro1088Ala)
c.3244C>G (p.Pro1082Ala)
c.3181C>G (p.Pro1061Ala)
dbSNP
11g.47333262G=CA1969335323MYBPC3c.3262C= (p.Pro1088=)
c.3244C= (p.Pro1082=)
c.3181C= (p.Pro1061=)
11g.47333262G>TCA380314260MYBPC3c.3262C>A (p.Pro1088Thr)
c.3244C>A (p.Pro1082Thr)
c.3181C>A (p.Pro1061Thr)
gnomAD v4
11g.47333263C>ACA380314262MYBPC3c.3261G>T (p.Lys1087Asn)
c.3243G>T (p.Lys1081Asn)
c.3180G>T (p.Lys1060Asn)
gnomAD v4
11g.47333263C>GCA380314264MYBPC3c.3261G>C (p.Lys1087Asn)
c.3243G>C (p.Lys1081Asn)
c.3180G>C (p.Lys1060Asn)
11g.47333263C>TCA474212191MYBPC3c.3261G>A (p.Lys1087=)
c.3243G>A (p.Lys1081=)
c.3180G>A (p.Lys1060=)
11g.47333264T>ACA380314269MYBPC3c.3260A>T (p.Lys1087Met)
c.3242A>T (p.Lys1081Met)
c.3179A>T (p.Lys1060Met)
11g.47333264T>CCA380314271MYBPC3c.3260A>G (p.Lys1087Arg)
c.3242A>G (p.Lys1081Arg)
c.3179A>G (p.Lys1060Arg)
11g.47333264T>GCA380314266MYBPC3c.3260A>C (p.Lys1087Thr)
c.3242A>C (p.Lys1081Thr)
c.3179A>C (p.Lys1060Thr)
11g.47333265T>ACA380314277MYBPC3c.3259A>T (p.Lys1087Ter)
c.3241A>T (p.Lys1081Ter)
c.3178A>T (p.Lys1060Ter)
11g.47333265T>CCA380314273MYBPC3c.3259A>G (p.Lys1087Glu)
c.3241A>G (p.Lys1081Glu)
c.3178A>G (p.Lys1060Glu)
11g.47333265T>GCA380314275MYBPC3c.3259A>C (p.Lys1087Gln)
c.3241A>C (p.Lys1081Gln)
c.3178A>C (p.Lys1060Gln)
gnomAD v4
11g.47333269_47333273delCA2695213927MYBPC3c.3255_3259del (p.Trp1086AlafsTer?)
c.3237_3241del (p.Trp1080AlafsTer?)
c.3174_3178del (p.Trp1059AlafsTer?)
11g.47333266C>ACA380314279MYBPC3c.3258G>T (p.Trp1086Cys)
c.3240G>T (p.Trp1080Cys)
c.3177G>T (p.Trp1059Cys)
gnomAD v4
11g.47333266C=CA1969335324MYBPC3c.3258G= (p.Trp1086=)
c.3240G= (p.Trp1080=)
c.3177G= (p.Trp1059=)
11g.47333266C>GCA380314281MYBPC3c.3258G>C (p.Trp1086Cys)
c.3240G>C (p.Trp1080Cys)
c.3177G>C (p.Trp1059Cys)
11g.47333266C>TCA380314283MYBPC3c.3258G>A (p.Trp1086Ter)
c.3240G>A (p.Trp1080Ter)
c.3177G>A (p.Trp1059Ter)
ClinVar dbSNP
11g.47333267dupCA2695213928MYBPC3c.3258dup (p.Lys1087GlufsTer?)
c.3240dup (p.Lys1081GlufsTer?)
c.3177dup (p.Lys1060GlufsTer?)
11g.47333266_47333267dupCA2499220961MYBPC3c.3257_3258dup (p.Lys1087GlyfsTer?)
c.3239_3240dup (p.Lys1081GlyfsTer?)
c.3176_3177dup (p.Lys1060GlyfsTer?)
ClinVar dbSNP
11g.47333267C>ACA380314285MYBPC3c.3257G>T (p.Trp1086Leu)
c.3239G>T (p.Trp1080Leu)
c.3176G>T (p.Trp1059Leu)
gnomAD v4
11g.47333267C=CA1969335326MYBPC3c.3257G= (p.Trp1086=)
c.3239G= (p.Trp1080=)
c.3176G= (p.Trp1059=)
11g.47333267C>GCA380314287MYBPC3c.3257G>C (p.Trp1086Ser)
c.3239G>C (p.Trp1080Ser)
c.3176G>C (p.Trp1059Ser)
ClinVar
11g.47333267C>TCA079249MYBPC3c.3257G>A (p.Trp1086Ter)
c.3239G>A (p.Trp1080Ter)
c.3176G>A (p.Trp1059Ter)
ClinVar dbSNP ExAC gnomAD v2
11g.47333268A=CA1969335329MYBPC3c.3256T= (p.Trp1086=)
c.3238T= (p.Trp1080=)
c.3175T= (p.Trp1059=)
11g.47333268A>CCA380314290MYBPC3c.3256T>G (p.Trp1086Gly)
c.3238T>G (p.Trp1080Gly)
c.3175T>G (p.Trp1059Gly)
11g.47333268A>GCA380314293MYBPC3c.3256T>C (p.Trp1086Arg)
c.3238T>C (p.Trp1080Arg)
c.3175T>C (p.Trp1059Arg)
ClinVar dbSNP
11g.47333268A>TCA380314294MYBPC3c.3256T>A (p.Trp1086Arg)
c.3238T>A (p.Trp1080Arg)
c.3175T>A (p.Trp1059Arg)
11g.47333269C>ACA380314297MYBPC3c.3255G>T (p.Glu1085Asp)
c.3237G>T (p.Glu1079Asp)
c.3174G>T (p.Glu1058Asp)
11g.47333269C>GCA380314299MYBPC3c.3255G>C (p.Glu1085Asp)
c.3237G>C (p.Glu1079Asp)
c.3174G>C (p.Glu1058Asp)
11g.47333269C>TCA474212192MYBPC3c.3255G>A (p.Glu1085=)
c.3237G>A (p.Glu1079=)
c.3174G>A (p.Glu1058=)
gnomAD v4
11g.47333270delCA2695213929MYBPC3c.3254del (p.Glu1085GlyfsTer?)
c.3236del (p.Glu1079GlyfsTer?)
c.3173del (p.Glu1058GlyfsTer?)
11g.47333270T>ACA380314301MYBPC3c.3254A>T (p.Glu1085Val)
c.3236A>T (p.Glu1079Val)
c.3173A>T (p.Glu1058Val)
11g.47333270T>CCA380314305MYBPC3c.3254A>G (p.Glu1085Gly)
c.3236A>G (p.Glu1079Gly)
c.3173A>G (p.Glu1058Gly)
gnomAD v4
11g.47333270T>GCA380314304MYBPC3c.3254A>C (p.Glu1085Ala)
c.3236A>C (p.Glu1079Ala)
c.3173A>C (p.Glu1058Ala)
11g.47333271C>ACA013727MYBPC3c.3253G>T (p.Glu1085Ter)
c.3235G>T (p.Glu1079Ter)
c.3172G>T (p.Glu1058Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333271C=CA1969335331MYBPC3c.3253G= (p.Glu1085=)
c.3235G= (p.Glu1079=)
c.3172G= (p.Glu1058=)
11g.47333271C>GCA221682521MYBPC3c.3253G>C (p.Glu1085Gln)
c.3235G>C (p.Glu1079Gln)
c.3172G>C (p.Glu1058Gln)
dbSNP
11g.47333271C>TCA380314310MYBPC3c.3253G>A (p.Glu1085Lys)
c.3235G>A (p.Glu1079Lys)
c.3172G>A (p.Glu1058Lys)
gnomAD v4
11g.47333272C>ACA474212193MYBPC3c.3252G>T (p.Leu1084=)
c.3234G>T (p.Leu1078=)
c.3171G>T (p.Leu1057=)
gnomAD v4
11g.47333272C>GCA474212194MYBPC3c.3252G>C (p.Leu1084=)
c.3234G>C (p.Leu1078=)
c.3171G>C (p.Leu1057=)
11g.47333272C>TCA474212195MYBPC3c.3252G>A (p.Leu1084=)
c.3234G>A (p.Leu1078=)
c.3171G>A (p.Leu1057=)
dbSNP gnomAD v4
11g.47333273A>CCA380314313MYBPC3c.3251T>G (p.Leu1084Arg)
c.3233T>G (p.Leu1078Arg)
c.3170T>G (p.Leu1057Arg)
11g.47333273A>GCA380314314MYBPC3c.3251T>C (p.Leu1084Pro)
c.3233T>C (p.Leu1078Pro)
c.3170T>C (p.Leu1057Pro)
ClinVar
11g.47333273A>TCA380314317MYBPC3c.3251T>A (p.Leu1084Gln)
c.3233T>A (p.Leu1078Gln)
c.3170T>A (p.Leu1057Gln)
11g.47333274G>ACA474212196MYBPC3c.3250C>T (p.Leu1084=)
c.3232C>T (p.Leu1078=)
c.3169C>T (p.Leu1057=)
COSMIC COSMIC
11g.47333274G>CCA380314319MYBPC3c.3250C>G (p.Leu1084Val)
c.3232C>G (p.Leu1078Val)
c.3169C>G (p.Leu1057Val)
11g.47333274G>TCA380314321MYBPC3c.3250C>A (p.Leu1084Met)
c.3232C>A (p.Leu1078Met)
c.3169C>A (p.Leu1057Met)
11g.47333275A>CCA474212197MYBPC3c.3249T>G (p.Ala1083=)
c.3231T>G (p.Ala1077=)
c.3168T>G (p.Ala1056=)
11g.47333275A>GCA474212198MYBPC3c.3249T>C (p.Ala1083=)
c.3231T>C (p.Ala1077=)
c.3168T>C (p.Ala1056=)
11g.47333275A>TCA474212199MYBPC3c.3249T>A (p.Ala1083=)
c.3231T>A (p.Ala1077=)
c.3168T>A (p.Ala1056=)
11g.47333276G>ACA380314322MYBPC3c.3248C>T (p.Ala1083Val)
c.3230C>T (p.Ala1077Val)
c.3167C>T (p.Ala1056Val)
11g.47333276G>CCA380314324MYBPC3c.3248C>G (p.Ala1083Gly)
c.3230C>G (p.Ala1077Gly)
c.3167C>G (p.Ala1056Gly)
11g.47333276G>TCA380314326MYBPC3c.3248C>A (p.Ala1083Asp)
c.3230C>A (p.Ala1077Asp)
c.3167C>A (p.Ala1056Asp)
gnomAD v4
11g.47333277C>ACA380314330MYBPC3c.3247G>T (p.Ala1083Ser)
c.3229G>T (p.Ala1077Ser)
c.3166G>T (p.Ala1056Ser)
gnomAD v4
11g.47333277C=CA1969335334MYBPC3c.3247G= (p.Ala1083=)
c.3229G= (p.Ala1077=)
c.3166G= (p.Ala1056=)
11g.47333277C>GCA380314332MYBPC3c.3247G>C (p.Ala1083Pro)
c.3229G>C (p.Ala1077Pro)
c.3166G>C (p.Ala1056Pro)
11g.47333277C>TCA380314328MYBPC3c.3247G>A (p.Ala1083Thr)
c.3229G>A (p.Ala1077Thr)
c.3166G>A (p.Ala1056Thr)
ClinVar dbSNP gnomAD v4
11g.47333278C>ACA474212200MYBPC3c.3246G>T (p.Val1082=)
c.3228G>T (p.Val1076=)
c.3165G>T (p.Val1055=)
11g.47333278C>GCA474212201MYBPC3c.3246G>C (p.Val1082=)
c.3228G>C (p.Val1076=)
c.3165G>C (p.Val1055=)
11g.47333278C>TCA474212202MYBPC3c.3246G>A (p.Val1082=)
c.3228G>A (p.Val1076=)
c.3165G>A (p.Val1055=)
11g.47333279A>CCA380314334MYBPC3c.3245T>G (p.Val1082Gly)
c.3227T>G (p.Val1076Gly)
c.3164T>G (p.Val1055Gly)
11g.47333279A>GCA380314336MYBPC3c.3245T>C (p.Val1082Ala)
c.3227T>C (p.Val1076Ala)
c.3164T>C (p.Val1055Ala)
11g.47333279A>TCA380314337MYBPC3c.3245T>A (p.Val1082Glu)
c.3227T>A (p.Val1076Glu)
c.3164T>A (p.Val1055Glu)
11g.47333280C>ACA380314339MYBPC3c.3244G>T (p.Val1082Leu)
c.3226G>T (p.Val1076Leu)
c.3163G>T (p.Val1055Leu)
gnomAD v4
11g.47333280C=CA1969335335MYBPC3c.3244G= (p.Val1082=)
c.3226G= (p.Val1076=)
c.3163G= (p.Val1055=)
11g.47333280C>GCA380314341MYBPC3c.3244G>C (p.Val1082Leu)
c.3226G>C (p.Val1076Leu)
c.3163G>C (p.Val1055Leu)
11g.47333280C>TCA221682524MYBPC3c.3244G>A (p.Val1082Met)
c.3226G>A (p.Val1076Met)
c.3163G>A (p.Val1055Met)
ClinVar dbSNP
11g.47333281A=CA1969335337MYBPC3c.3243T= (p.Asn1081=)
c.3225T= (p.Asn1075=)
c.3162T= (p.Asn1054=)
11g.47333281A>CCA380314346MYBPC3c.3243T>G (p.Asn1081Lys)
c.3225T>G (p.Asn1075Lys)
c.3162T>G (p.Asn1054Lys)
11g.47333281A>GCA474212203MYBPC3c.3243T>C (p.Asn1081=)
c.3225T>C (p.Asn1075=)
c.3162T>C (p.Asn1054=)
ClinVar dbSNP gnomAD v4
11g.47333281A>TCA380314344MYBPC3c.3243T>A (p.Asn1081Lys)
c.3225T>A (p.Asn1075Lys)
c.3162T>A (p.Asn1054Lys)
dbSNP
11g.47333282T>ACA380314348MYBPC3c.3242A>T (p.Asn1081Ile)
c.3224A>T (p.Asn1075Ile)
c.3161A>T (p.Asn1054Ile)
gnomAD v4
11g.47333282T>CCA380314350MYBPC3c.3242A>G (p.Asn1081Ser)
c.3224A>G (p.Asn1075Ser)
c.3161A>G (p.Asn1054Ser)
dbSNP gnomAD v3 gnomAD v4
11g.47333282T>GCA079247MYBPC3c.3242A>C (p.Asn1081Thr)
c.3224A>C (p.Asn1075Thr)
c.3161A>C (p.Asn1054Thr)
dbSNP ExAC gnomAD v2
11g.47333282T=CA1969335338MYBPC3c.3242A= (p.Asn1081=)
c.3224A= (p.Asn1075=)
c.3161A= (p.Asn1054=)
11g.47333283dupCA2580084227MYBPC3c.3242dup (p.Asn1081LysfsTer?)
c.3224dup (p.Asn1075LysfsTer?)
c.3161dup (p.Asn1054LysfsTer?)
ClinVar
11g.47333283T>ACA380314352MYBPC3c.3241A>T (p.Asn1081Tyr)
c.3223A>T (p.Asn1075Tyr)
c.3160A>T (p.Asn1054Tyr)
11g.47333283T>CCA380314354MYBPC3c.3241A>G (p.Asn1081Asp)
c.3223A>G (p.Asn1075Asp)
c.3160A>G (p.Asn1054Asp)
11g.47333283T>GCA380314356MYBPC3c.3241A>C (p.Asn1081His)
c.3223A>C (p.Asn1075His)
c.3160A>C (p.Asn1054His)
ClinVar
11g.47333284A=CA1969335340MYBPC3c.3240T= (p.Leu1080=)
c.3222T= (p.Leu1074=)
c.3159T= (p.Leu1053=)
11g.47333284A>CCA474212206MYBPC3c.3240T>G (p.Leu1080=)
c.3222T>G (p.Leu1074=)
c.3159T>G (p.Leu1053=)
11g.47333284A>GCA474212205MYBPC3c.3240T>C (p.Leu1080=)
c.3222T>C (p.Leu1074=)
c.3159T>C (p.Leu1053=)
dbSNP gnomAD v4
11g.47333284A>TCA474212204MYBPC3c.3240T>A (p.Leu1080=)
c.3222T>A (p.Leu1074=)
c.3159T>A (p.Leu1053=)
gnomAD v4
11g.47333285dupCA2580084228MYBPC3c.3240dup (p.Asn1081Ter)
c.3222dup (p.Asn1075Ter)
c.3159dup (p.Asn1054Ter)
ClinVar
11g.47333285A>CCA380314358MYBPC3c.3239T>G (p.Leu1080Arg)
c.3221T>G (p.Leu1074Arg)
c.3158T>G (p.Leu1053Arg)
11g.47333285A>GCA380314362MYBPC3c.3239T>C (p.Leu1080Pro)
c.3221T>C (p.Leu1074Pro)
c.3158T>C (p.Leu1053Pro)
11g.47333285A>TCA380314360MYBPC3c.3239T>A (p.Leu1080His)
c.3221T>A (p.Leu1074His)
c.3158T>A (p.Leu1053His)
11g.47333286_47333287insTAGCA1969335341MYBPC3c.3239_3240insACT (p.Leu1080_Asn1081insLeu)
c.3221_3222insACT (p.Leu1074_Asn1075insLeu)
c.3158_3159insACT (p.Leu1053_Asn1054insLeu)
dbSNP
11g.47333286G>ACA380314364MYBPC3c.3238C>T (p.Leu1080Phe)
c.3220C>T (p.Leu1074Phe)
c.3157C>T (p.Leu1053Phe)
11g.47333286G>CCA380314366MYBPC3c.3238C>G (p.Leu1080Val)
c.3220C>G (p.Leu1074Val)
c.3157C>G (p.Leu1053Val)
11g.47333286G>TCA380314368MYBPC3c.3238C>A (p.Leu1080Ile)
c.3220C>A (p.Leu1074Ile)
c.3157C>A (p.Leu1053Ile)
11g.47333287A>CCA474212207MYBPC3c.3237T>G (p.Gly1079=)
c.3219T>G (p.Gly1073=)
c.3156T>G (p.Gly1052=)
11g.47333287A>GCA474212208MYBPC3c.3237T>C (p.Gly1079=)
c.3219T>C (p.Gly1073=)
c.3156T>C (p.Gly1052=)
gnomAD v4
11g.47333287A>TCA474212209MYBPC3c.3237T>A (p.Gly1079=)
c.3219T>A (p.Gly1073=)
c.3156T>A (p.Gly1052=)
11g.47333288C>ACA380314374MYBPC3c.3236G>T (p.Gly1079Val)
c.3218G>T (p.Gly1073Val)
c.3155G>T (p.Gly1052Val)
11g.47333288C>GCA380314376MYBPC3c.3236G>C (p.Gly1079Ala)
c.3218G>C (p.Gly1073Ala)
c.3155G>C (p.Gly1052Ala)
11g.47333288C>TCA380314377MYBPC3c.3236G>A (p.Gly1079Asp)
c.3218G>A (p.Gly1073Asp)
c.3155G>A (p.Gly1052Asp)
ClinVar
11g.47333291delCA2695213931MYBPC3c.3236del (p.Gly1079ValfsTer?)
c.3218del (p.Gly1073ValfsTer?)
c.3155del (p.Gly1052ValfsTer?)
11g.47333289C>ACA380314379MYBPC3c.3235G>T (p.Gly1079Cys)
c.3217G>T (p.Gly1073Cys)
c.3154G>T (p.Gly1052Cys)
gnomAD v4
11g.47333289C=CA1969335342MYBPC3c.3235G= (p.Gly1079=)
c.3217G= (p.Gly1073=)
c.3154G= (p.Gly1052=)
11g.47333289C>GCA380314380MYBPC3c.3235G>C (p.Gly1079Arg)
c.3217G>C (p.Gly1073Arg)
c.3154G>C (p.Gly1052Arg)
11g.47333289C>TCA380314383MYBPC3c.3235G>A (p.Gly1079Ser)
c.3217G>A (p.Gly1073Ser)
c.3154G>A (p.Gly1052Ser)
dbSNP gnomAD v2 gnomAD v4
11g.47333290C>ACA221682525MYBPC3c.3234G>T (p.Trp1078Cys)
c.3216G>T (p.Trp1072Cys)
c.3153G>T (p.Trp1051Cys)
dbSNP gnomAD v4
11g.47333290C=CA1969335343MYBPC3c.3234G= (p.Trp1078=)
c.3216G= (p.Trp1072=)
c.3153G= (p.Trp1051=)
11g.47333290C>GCA380314386MYBPC3c.3234G>C (p.Trp1078Cys)
c.3216G>C (p.Trp1072Cys)
c.3153G>C (p.Trp1051Cys)
11g.47333290C>TCA380314388MYBPC3c.3234G>A (p.Trp1078Ter)
c.3216G>A (p.Trp1072Ter)
c.3153G>A (p.Trp1051Ter)
ClinVar dbSNP
11g.47333291C>ACA380314394MYBPC3c.3233G>T (p.Trp1078Leu)
c.3215G>T (p.Trp1072Leu)
c.3152G>T (p.Trp1051Leu)
gnomAD v4
11g.47333291C=CA1969335345MYBPC3c.3233G= (p.Trp1078=)
c.3215G= (p.Trp1072=)
c.3152G= (p.Trp1051=)
11g.47333291C>GCA380314392MYBPC3c.3233G>C (p.Trp1078Ser)
c.3215G>C (p.Trp1072Ser)
c.3152G>C (p.Trp1051Ser)
11g.47333291C>TCA013715MYBPC3c.3233G>A (p.Trp1078Ter)
c.3215G>A (p.Trp1072Ter)
c.3152G>A (p.Trp1051Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333294_47333300delCA2580084229MYBPC3c.3227_3233del (p.Asp1076GlyfsTer?)
c.3209_3215del (p.Asp1070GlyfsTer?)
c.3146_3152del (p.Asp1049GlyfsTer?)
ClinVar
11g.47333292A=CA1969335346MYBPC3c.3232T= (p.Trp1078=)
c.3214T= (p.Trp1072=)
c.3151T= (p.Trp1051=)
11g.47333292A>CCA380314395MYBPC3c.3232T>G (p.Trp1078Gly)
c.3214T>G (p.Trp1072Gly)
c.3151T>G (p.Trp1051Gly)
11g.47333292A>GCA079242MYBPC3c.3232T>C (p.Trp1078Arg)
c.3214T>C (p.Trp1072Arg)
c.3151T>C (p.Trp1051Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333292A>TCA380314397MYBPC3c.3232T>A (p.Trp1078Arg)
c.3214T>A (p.Trp1072Arg)
c.3151T>A (p.Trp1051Arg)
gnomAD v4
11g.47333293G>ACA474212210MYBPC3c.3231C>T (p.Ala1077=)
c.3213C>T (p.Ala1071=)
c.3150C>T (p.Ala1050=)
11g.47333293G>CCA474212211MYBPC3c.3231C>G (p.Ala1077=)
c.3213C>G (p.Ala1071=)
c.3150C>G (p.Ala1050=)
ClinVar dbSNP gnomAD v4
11g.47333293G=CA1969335348MYBPC3c.3231C= (p.Ala1077=)
c.3213C= (p.Ala1071=)
c.3150C= (p.Ala1050=)
11g.47333293G>TCA474212212MYBPC3c.3231C>A (p.Ala1077=)
c.3213C>A (p.Ala1071=)
c.3150C>A (p.Ala1050=)
gnomAD v4
11g.47333294dupCA2573146365MYBPC3c.3231dup (p.Trp1078LeufsTer4)
c.3213dup (p.Trp1072LeufsTer4)
c.3150dup (p.Trp1051LeufsTer4)
ClinVar dbSNP
11g.47333294G>ACA380314400MYBPC3c.3230C>T (p.Ala1077Val)
c.3212C>T (p.Ala1071Val)
c.3149C>T (p.Ala1050Val)
COSMIC COSMIC
11g.47333294G>CCA380314404MYBPC3c.3230C>G (p.Ala1077Gly)
c.3212C>G (p.Ala1071Gly)
c.3149C>G (p.Ala1050Gly)
11g.47333294G>TCA380314402MYBPC3c.3230C>A (p.Ala1077Asp)
c.3212C>A (p.Ala1071Asp)
c.3149C>A (p.Ala1050Asp)
gnomAD v4
11g.47333295C>ACA079238MYBPC3c.3229G>T (p.Ala1077Ser)
c.3211G>T (p.Ala1071Ser)
c.3148G>T (p.Ala1050Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333295C=CA1969335351MYBPC3c.3229G= (p.Ala1077=)
c.3211G= (p.Ala1071=)
c.3148G= (p.Ala1050=)
11g.47333295C>GCA380314408MYBPC3c.3229G>C (p.Ala1077Pro)
c.3211G>C (p.Ala1071Pro)
c.3148G>C (p.Ala1050Pro)
11g.47333295C>TCA013706MYBPC3c.3229G>A (p.Ala1077Thr)
c.3211G>A (p.Ala1071Thr)
c.3148G>A (p.Ala1050Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.47333295_47333296insACA658797620MYBPC3c.3228_3229insT (p.Ala1077CysfsTer5)
c.3210_3211insT (p.Ala1071CysfsTer5)
c.3147_3148insT (p.Ala1050CysfsTer5)
ClinVar dbSNP
11g.47333296G>ACA079235MYBPC3c.3228C>T (p.Asp1076=)
c.3210C>T (p.Asp1070=)
c.3147C>T (p.Asp1049=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333296G>CCA380314411MYBPC3c.3228C>G (p.Asp1076Glu)
c.3210C>G (p.Asp1070Glu)
c.3147C>G (p.Asp1049Glu)
11g.47333296G=CA1969335357MYBPC3c.3228C= (p.Asp1076=)
c.3210C= (p.Asp1070=)
c.3147C= (p.Asp1049=)
11g.47333296G>TCA380314412MYBPC3c.3228C>A (p.Asp1076Glu)
c.3210C>A (p.Asp1070Glu)
c.3147C>A (p.Asp1049Glu)
dbSNP
11g.47333296_47333297insACA2695213932MYBPC3c.3227_3228insT (p.Ala1077ArgfsTer5)
c.3209_3210insT (p.Ala1071ArgfsTer5)
c.3146_3147insT (p.Ala1050ArgfsTer5)
11g.47333297T>ACA380314414MYBPC3c.3227A>T (p.Asp1076Val)
c.3209A>T (p.Asp1070Val)
c.3146A>T (p.Asp1049Val)
11g.47333297T>CCA013694MYBPC3c.3227A>G (p.Asp1076Gly)
c.3209A>G (p.Asp1070Gly)
c.3146A>G (p.Asp1049Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333297T>GCA380314417MYBPC3c.3227A>C (p.Asp1076Ala)
c.3209A>C (p.Asp1070Ala)
c.3146A>C (p.Asp1049Ala)
11g.47333297T=CA1969335359MYBPC3c.3227A= (p.Asp1076=)
c.3209A= (p.Asp1070=)
c.3146A= (p.Asp1049=)
11g.47333297_47333298insACA013684MYBPC3c.3226_3227insT (p.Asp1076ValfsTer6)
c.3208_3209insT (p.Asp1070ValfsTer6)
c.3145_3146insT (p.Asp1049ValfsTer6)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47333298C>ACA053133MYBPC3c.3226G>T (p.Asp1076Tyr)
c.3208G>T (p.Asp1070Tyr)
c.3145G>T (p.Asp1049Tyr)
gnomAD v4
11g.47333298C>GCA380314421MYBPC3c.3226G>C (p.Asp1076His)
c.3208G>C (p.Asp1070His)
c.3145G>C (p.Asp1049His)
11g.47333298C>TCA053126MYBPC3c.3226G>A (p.Asp1076Asn)
c.3208G>A (p.Asp1070Asn)
c.3145G>A (p.Asp1049Asn)
gnomAD v4
11g.47333299A=CA1969335361MYBPC3c.3225T= (p.Thr1075=)
c.3207T= (p.Thr1069=)
c.3144T= (p.Thr1048=)
11g.47333299A>CCA079233MYBPC3c.3225T>G (p.Thr1075=)
c.3207T>G (p.Thr1069=)
c.3144T>G (p.Thr1048=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333299A>GCA474212213MYBPC3c.3225T>C (p.Thr1075=)
c.3207T>C (p.Thr1069=)
c.3144T>C (p.Thr1048=)
ClinVar dbSNP gnomAD v4
11g.47333299A>TCA474212214MYBPC3c.3225T>A (p.Thr1075=)
c.3207T>A (p.Thr1069=)
c.3144T>A (p.Thr1048=)
11g.47333300G>ACA380314424MYBPC3c.3224C>T (p.Thr1075Ile)
c.3206C>T (p.Thr1069Ile)
c.3143C>T (p.Thr1048Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333300G>CCA221682555MYBPC3c.3224C>G (p.Thr1075Ser)
c.3206C>G (p.Thr1069Ser)
c.3143C>G (p.Thr1048Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47333300G=CA1969335363MYBPC3c.3224C= (p.Thr1075=)
c.3206C= (p.Thr1069=)
c.3143C= (p.Thr1048=)
11g.47333300G>TCA380314426MYBPC3c.3224C>A (p.Thr1075Asn)
c.3206C>A (p.Thr1069Asn)
c.3143C>A (p.Thr1048Asn)
11g.47333301T>ACA380314428MYBPC3c.3223A>T (p.Thr1075Ser)
c.3205A>T (p.Thr1069Ser)
c.3142A>T (p.Thr1048Ser)
11g.47333301T>CCA079231MYBPC3c.3223A>G (p.Thr1075Ala)
c.3205A>G (p.Thr1069Ala)
c.3142A>G (p.Thr1048Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333301T>GCA380314430MYBPC3c.3223A>C (p.Thr1075Pro)
c.3205A>C (p.Thr1069Pro)
c.3142A>C (p.Thr1048Pro)
11g.47333301T=CA1969335366MYBPC3c.3223A= (p.Thr1075=)
c.3205A= (p.Thr1069=)
c.3142A= (p.Thr1048=)
11g.47333302C>ACA474212215MYBPC3c.3222G>T (p.Val1074=)
c.3204G>T (p.Val1068=)
c.3141G>T (p.Val1047=)
gnomAD v4
11g.47333302C>GCA474212216MYBPC3c.3222G>C (p.Val1074=)
c.3204G>C (p.Val1068=)
c.3141G>C (p.Val1047=)
11g.47333302C>TCA474212217MYBPC3c.3222G>A (p.Val1074=)
c.3204G>A (p.Val1068=)
c.3141G>A (p.Val1047=)
11g.47333303A=CA1969335369MYBPC3c.3221T= (p.Val1074=)
c.3203T= (p.Val1068=)
c.3140T= (p.Val1047=)
11g.47333303A>CCA380314433MYBPC3c.3221T>G (p.Val1074Gly)
c.3203T>G (p.Val1068Gly)
c.3140T>G (p.Val1047Gly)
11g.47333303A>GCA079228MYBPC3c.3221T>C (p.Val1074Ala)
c.3203T>C (p.Val1068Ala)
c.3140T>C (p.Val1047Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333303A>TCA380314436MYBPC3c.3221T>A (p.Val1074Glu)
c.3203T>A (p.Val1068Glu)
c.3140T>A (p.Val1047Glu)
11g.47333304C>ACA380314438MYBPC3c.3220G>T (p.Val1074Leu)
c.3202G>T (p.Val1068Leu)
c.3139G>T (p.Val1047Leu)
dbSNP gnomAD v2 gnomAD v4
11g.47333304C=CA1969335370MYBPC3c.3220G= (p.Val1074=)
c.3202G= (p.Val1068=)
c.3139G= (p.Val1047=)
11g.47333304C>GCA380314440MYBPC3c.3220G>C (p.Val1074Leu)
c.3202G>C (p.Val1068Leu)
c.3139G>C (p.Val1047Leu)
11g.47333304C>TCA380314442MYBPC3c.3220G>A (p.Val1074Met)
c.3202G>A (p.Val1068Met)
c.3139G>A (p.Val1047Met)
gnomAD v4
11g.47333305C>ACA474212220MYBPC3c.3219G>T (p.Arg1073=)
c.3201G>T (p.Arg1067=)
c.3138G>T (p.Arg1046=)
gnomAD v4
11g.47333305C=CA1969335371MYBPC3c.3219G= (p.Arg1073=)
c.3201G= (p.Arg1067=)
c.3138G= (p.Arg1046=)
11g.47333305C>GCA474212218MYBPC3c.3219G>C (p.Arg1073=)
c.3201G>C (p.Arg1067=)
c.3138G>C (p.Arg1046=)
gnomAD v4
11g.47333305C>TCA474212219MYBPC3c.3219G>A (p.Arg1073=)
c.3201G>A (p.Arg1067=)
c.3138G>A (p.Arg1046=)
dbSNP gnomAD v2 gnomAD v4
11g.47333306C>ACA380314445MYBPC3c.3218G>T (p.Arg1073Leu)
c.3200G>T (p.Arg1067Leu)
c.3137G>T (p.Arg1046Leu)
gnomAD v4
11g.47333306C=CA1969335373MYBPC3c.3218G= (p.Arg1073=)
c.3200G= (p.Arg1067=)
c.3137G= (p.Arg1046=)
11g.47333306C>GCA380314446MYBPC3c.3218G>C (p.Arg1073Pro)
c.3200G>C (p.Arg1067Pro)
c.3137G>C (p.Arg1046Pro)
gnomAD v4
11g.47333306C>TCA079227MYBPC3c.3218G>A (p.Arg1073Gln)
c.3200G>A (p.Arg1067Gln)
c.3137G>A (p.Arg1046Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333306_47333307delinsCGCA1969335374MYBPC3c.3217_3218delinsCG (p.Arg1073=)
c.3199_3200delinsCG (p.Arg1067=)
c.3136_3137delinsCG (p.Arg1046=)
11g.47333307G>ACA079225MYBPC3c.3217C>T (p.Arg1073Trp)
c.3199C>T (p.Arg1067Trp)
c.3136C>T (p.Arg1046Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47333307G>CCA380314451MYBPC3c.3217C>G (p.Arg1073Gly)
c.3199C>G (p.Arg1067Gly)
c.3136C>G (p.Arg1046Gly)
11g.47333307G=CA1969335377MYBPC3c.3217C= (p.Arg1073=)
c.3199C= (p.Arg1067=)
c.3136C= (p.Arg1046=)
11g.47333307G>TCA474212221MYBPC3c.3217C>A (p.Arg1073=)
c.3199C>A (p.Arg1067=)
c.3136C>A (p.Arg1046=)
gnomAD v4
11g.47333308dupCA296433MYBPC3c.3217dup (p.Arg1073ProfsTer4)
c.3199dup (p.Arg1067ProfsTer4)
c.3136dup (p.Arg1046ProfsTer4)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47333308delCA013676MYBPC3c.3217del (p.Arg1073GlyfsTer2)
c.3199del (p.Arg1067GlyfsTer2)
c.3136del (p.Arg1046GlyfsTer2)
ClinVar dbSNP gnomAD v4
11g.47333308G>ACA474212222MYBPC3c.3216C>T (p.Leu1072=)
c.3198C>T (p.Leu1066=)
c.3135C>T (p.Leu1045=)
11g.47333308G>CCA474212223MYBPC3c.3216C>G (p.Leu1072=)
c.3198C>G (p.Leu1066=)
c.3135C>G (p.Leu1045=)
11g.47333308G=CA1969335379MYBPC3c.3216C= (p.Leu1072=)
c.3198C= (p.Leu1066=)
c.3135C= (p.Leu1045=)
11g.47333308G>TCA079223MYBPC3c.3216C>A (p.Leu1072=)
c.3198C>A (p.Leu1066=)
c.3135C>A (p.Leu1045=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.47333308_47333309insCCA2573146366MYBPC3c.3215_3216insG (p.Arg1073ProfsTer4)
c.3197_3198insG (p.Arg1067ProfsTer4)
c.3134_3135insG (p.Arg1046ProfsTer4)
ClinVar dbSNP
11g.47333309A>CCA380314459MYBPC3c.3215T>G (p.Leu1072Arg)
c.3197T>G (p.Leu1066Arg)
c.3134T>G (p.Leu1045Arg)
ClinVar
11g.47333309A>GCA380314455MYBPC3c.3215T>C (p.Leu1072Pro)
c.3197T>C (p.Leu1066Pro)
c.3134T>C (p.Leu1045Pro)
COSMIC COSMIC
11g.47333309A>TCA380314457MYBPC3c.3215T>A (p.Leu1072His)
c.3197T>A (p.Leu1066His)
c.3134T>A (p.Leu1045His)
gnomAD v4
11g.47333310G>ACA053055MYBPC3c.3214C>T (p.Leu1072Phe)
c.3196C>T (p.Leu1066Phe)
c.3133C>T (p.Leu1045Phe)
11g.47333310G>CCA380314462MYBPC3c.3214C>G (p.Leu1072Val)
c.3196C>G (p.Leu1066Val)
c.3133C>G (p.Leu1045Val)
11g.47333310G=CA1969335381MYBPC3c.3214C= (p.Leu1072=)
c.3196C= (p.Leu1066=)
c.3133C= (p.Leu1045=)
11g.47333310G>TCA380314464MYBPC3c.3214C>A (p.Leu1072Ile)
c.3196C>A (p.Leu1066Ile)
c.3133C>A (p.Leu1045Ile)
dbSNP gnomAD v2 gnomAD v4
11g.47333311A>CCA380314466MYBPC3c.3213T>G (p.Asp1071Glu)
c.3195T>G (p.Asp1065Glu)
c.3132T>G (p.Asp1044Glu)
11g.47333311A>GCA474212224MYBPC3c.3213T>C (p.Asp1071=)
c.3195T>C (p.Asp1065=)
c.3132T>C (p.Asp1044=)
11g.47333311A>TCA380314471MYBPC3c.3213T>A (p.Asp1071Glu)
c.3195T>A (p.Asp1065Glu)
c.3132T>A (p.Asp1044Glu)
gnomAD v4

Number of alleles fetched