Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47222374C>ACA2739549528MYL4c.488-6C>A (n.488-6C>A)
c.199-6C>A
c.*274-6C>A (n.*274-6C>A)
c.*90-6C>A (n.*90-6C>A)
c.278-6C>A (n.278-6C>A)
c.581-6C>A (n.581-6C>A)
17g.47222374C>GCA2739549529MYL4c.488-6C>G (n.488-6C>G)
c.199-6C>G
c.*274-6C>G (n.*274-6C>G)
c.*90-6C>G (n.*90-6C>G)
c.278-6C>G (n.278-6C>G)
c.581-6C>G (n.581-6C>G)
17g.47222374C>TCA2739549530MYL4c.488-6C>T (n.488-6C>T)
c.199-6C>T
c.*274-6C>T (n.*274-6C>T)
c.*90-6C>T (n.*90-6C>T)
c.278-6C>T (n.278-6C>T)
c.581-6C>T (n.581-6C>T)
17g.47222375C=CA2262578036MYL4c.488-5C= (n.488-5C=)
c.199-5C=
c.*274-5C= (n.*274-5C=)
c.*90-5C= (n.*90-5C=)
c.278-5C= (n.278-5C=)
c.581-5C= (n.581-5C=)
17g.47222375C>TCA8622774MYL4c.488-5C>T (n.488-5C>T)
c.199-5C>T
c.*274-5C>T (n.*274-5C>T)
c.*90-5C>T (n.*90-5C>T)
c.278-5C>T (n.278-5C>T)
c.581-5C>T (n.581-5C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222376G>ACA8622775MYL4c.488-4G>A (n.488-4G>A)
c.199-4G>A
c.*274-4G>A (n.*274-4G>A)
c.*90-4G>A (n.*90-4G>A)
c.278-4G>A (n.278-4G>A)
c.581-4G>A (n.581-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222376G>CCA2739549531MYL4c.488-4G>C (n.488-4G>C)
c.199-4G>C
c.*274-4G>C (n.*274-4G>C)
c.*90-4G>C (n.*90-4G>C)
c.278-4G>C (n.278-4G>C)
c.581-4G>C (n.581-4G>C)
17g.47222376G=CA2262578037MYL4c.488-4G= (n.488-4G=)
c.199-4G=
c.*274-4G= (n.*274-4G=)
c.*90-4G= (n.*90-4G=)
c.278-4G= (n.278-4G=)
c.581-4G= (n.581-4G=)
17g.47222376G>TCA984207679MYL4c.488-4G>T (n.488-4G>T)
c.199-4G>T
c.*274-4G>T (n.*274-4G>T)
c.*90-4G>T (n.*90-4G>T)
c.278-4G>T (n.278-4G>T)
c.581-4G>T (n.581-4G>T)
dbSNP gnomAD v3 gnomAD v4
17g.47222377C>ACA2739549532MYL4c.488-3C>A (n.488-3C>A)
c.199-3C>A
c.*274-3C>A (n.*274-3C>A)
c.*90-3C>A (n.*90-3C>A)
c.278-3C>A (n.278-3C>A)
c.581-3C>A (n.581-3C>A)
17g.47222377C=CA2262578038MYL4c.488-3C= (n.488-3C=)
c.199-3C=
c.*274-3C= (n.*274-3C=)
c.*90-3C= (n.*90-3C=)
c.278-3C= (n.278-3C=)
c.581-3C= (n.581-3C=)
17g.47222377C>GCA2739549533MYL4c.488-3C>G (n.488-3C>G)
c.199-3C>G
c.*274-3C>G (n.*274-3C>G)
c.*90-3C>G (n.*90-3C>G)
c.278-3C>G (n.278-3C>G)
c.581-3C>G (n.581-3C>G)
17g.47222377C>TCA2262578039MYL4c.488-3C>T (n.488-3C>T)
c.199-3C>T
c.*274-3C>T (n.*274-3C>T)
c.*90-3C>T (n.*90-3C>T)
c.278-3C>T (n.278-3C>T)
c.581-3C>T (n.581-3C>T)
dbSNP
17g.47222378A>CCA400022824MYL4c.488-2A>C (n.488-2A>C)
c.199-2A>C
c.*274-2A>C (n.*274-2A>C)
c.*90-2A>C (n.*90-2A>C)
c.278-2A>C (n.278-2A>C)
c.581-2A>C (n.581-2A>C)
17g.47222378A>GCA400022826MYL4c.488-2A>G (n.488-2A>G)
c.199-2A>G
c.*274-2A>G (n.*274-2A>G)
c.*90-2A>G (n.*90-2A>G)
c.278-2A>G (n.278-2A>G)
c.581-2A>G (n.581-2A>G)
17g.47222378A>TCA400022828MYL4c.488-2A>T (n.488-2A>T)
c.199-2A>T
c.*274-2A>T (n.*274-2A>T)
c.*90-2A>T (n.*90-2A>T)
c.278-2A>T (n.278-2A>T)
c.581-2A>T (n.581-2A>T)
17g.47222379G>ACA8622776MYL4c.488-1G>A (n.488-1G>A)
c.199-1G>A
c.*274-1G>A (n.*274-1G>A)
c.*90-1G>A (n.*90-1G>A)
c.278-1G>A (n.278-1G>A)
c.581-1G>A (n.581-1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.47222379G>CCA400022832MYL4c.488-1G>C (n.488-1G>C)
c.199-1G>C
c.*274-1G>C (n.*274-1G>C)
c.*90-1G>C (n.*90-1G>C)
c.278-1G>C (n.278-1G>C)
c.581-1G>C (n.581-1G>C)
17g.47222379G=CA2262578040MYL4c.488-1G= (n.488-1G=)
c.199-1G=
c.*274-1G= (n.*274-1G=)
c.*90-1G= (n.*90-1G=)
c.278-1G= (n.278-1G=)
c.581-1G= (n.581-1G=)
17g.47222379G>TCA400022831MYL4c.488-1G>T (n.488-1G>T)
c.199-1G>T
c.*274-1G>T (n.*274-1G>T)
c.*90-1G>T (n.*90-1G>T)
c.278-1G>T (n.278-1G>T)
c.581-1G>T (n.581-1G>T)
17g.47222380G>ACA400022833MYL4c.488G>A (p.Gly163Glu)
c.199G>A
c.*274G>A (n.*274G>A)
c.*90G>A (n.*90G>A)
c.278G>A (p.Gly93Glu)
c.581G>A (p.Gly194Glu)
17g.47222380G>CCA400022834MYL4c.488G>C (p.Gly163Ala)
c.199G>C
c.*274G>C (n.*274G>C)
c.*90G>C (n.*90G>C)
c.278G>C (p.Gly93Ala)
c.581G>C (p.Gly194Ala)
gnomAD v4
17g.47222380G=CA2262578041MYL4c.488G= (p.Gly163=)
c.199G=
c.*274G= (n.*274G=)
c.*90G= (n.*90G=)
c.278G= (p.Gly93=)
c.581G= (p.Gly194=)
17g.47222380G>TCA400022835MYL4c.488G>T (p.Gly163Val)
c.199G>T
c.*274G>T (n.*274G>T)
c.*90G>T (n.*90G>T)
c.278G>T (p.Gly93Val)
c.581G>T (p.Gly194Val)
dbSNP gnomAD v2 gnomAD v4
17g.47222381A>CCA500434321MYL4c.489A>C (p.Gly163=)
c.200A>C
c.*275A>C (n.*275A>C)
c.*91A>C (n.*91A>C)
c.279A>C (p.Gly93=)
c.582A>C (p.Gly194=)
17g.47222381A>GCA500434317MYL4c.489A>G (p.Gly163=)
c.200A>G
c.*275A>G (n.*275A>G)
c.*91A>G (n.*91A>G)
c.279A>G (p.Gly93=)
c.582A>G (p.Gly194=)
17g.47222381A>TCA500434323MYL4c.489A>T (p.Gly163=)
c.200A>T
c.*275A>T (n.*275A>T)
c.*91A>T (n.*91A>T)
c.279A>T (p.Gly93=)
c.582A>T (p.Gly194=)
17g.47222382G>ACA8622777MYL4c.490G>A (p.Glu164Lys)
c.201G>A
c.*276G>A (n.*276G>A)
c.*92G>A (n.*92G>A)
c.280G>A (p.Glu94Lys)
c.583G>A (p.Glu195Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222382G>CCA400022836MYL4c.490G>C (p.Glu164Gln)
c.201G>C
c.*276G>C (n.*276G>C)
c.*92G>C (n.*92G>C)
c.280G>C (p.Glu94Gln)
c.583G>C (p.Glu195Gln)
17g.47222382G=CA2262578043MYL4c.490G= (p.Glu164=)
c.201G=
c.*276G= (n.*276G=)
c.*92G= (n.*92G=)
c.280G= (p.Glu94=)
c.583G= (p.Glu195=)
17g.47222382G>TCA400022837MYL4c.490G>T (p.Glu164Ter)
c.201G>T
c.*276G>T (n.*276G>T)
c.*92G>T (n.*92G>T)
c.280G>T (p.Glu94Ter)
c.583G>T (p.Glu195Ter)
17g.47222382_47222385delinsGAGACA2262578042MYL4c.490_493delinsGAGA (p.Glu164=)
c.201_204delinsGAGA
c.*276_*279delinsGAGA (n.*276_*279delinsGAGA)
c.*92_*95delinsGAGA (n.*92_*95delinsGAGA)
c.280_283delinsGAGA (p.Glu94=)
c.583_586delinsGAGA (p.Glu195=)
17g.47222383A>CCA400022838MYL4c.491A>C (p.Glu164Ala)
c.202A>C
c.*277A>C (n.*277A>C)
c.*93A>C (n.*93A>C)
c.281A>C (p.Glu94Ala)
c.584A>C (p.Glu195Ala)
17g.47222383A>GCA400022840MYL4c.491A>G (p.Glu164Gly)
c.202A>G
c.*277A>G (n.*277A>G)
c.*93A>G (n.*93A>G)
c.281A>G (p.Glu94Gly)
c.584A>G (p.Glu195Gly)
17g.47222383A>TCA400022839MYL4c.491A>T (p.Glu164Val)
c.202A>T
c.*277A>T (n.*277A>T)
c.*93A>T (n.*93A>T)
c.281A>T (p.Glu94Val)
c.584A>T (p.Glu195Val)
17g.47222386_47222388delCA8622778MYL4c.494_496del (p.Lys165del)
c.205_207del
c.*280_*282del (n.*280_*282del)
c.*96_*98del (n.*96_*98del)
c.284_286del (p.Lys95del)
c.587_589del (p.Lys196del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47222384G>ACA500434335MYL4c.492G>A (p.Glu164=)
c.203G>A
c.*278G>A (n.*278G>A)
c.*94G>A (n.*94G>A)
c.282G>A (p.Glu94=)
c.585G>A (p.Glu195=)
dbSNP
17g.47222384G>CCA400022841MYL4c.492G>C (p.Glu164Asp)
c.203G>C
c.*278G>C (n.*278G>C)
c.*94G>C (n.*94G>C)
c.282G>C (p.Glu94Asp)
c.585G>C (p.Glu195Asp)
17g.47222384G=CA2262578044MYL4c.492G= (p.Glu164=)
c.203G=
c.*278G= (n.*278G=)
c.*94G= (n.*94G=)
c.282G= (p.Glu94=)
c.585G= (p.Glu195=)
17g.47222384G>TCA400022842MYL4c.492G>T (p.Glu164Asp)
c.203G>T
c.*278G>T (n.*278G>T)
c.*94G>T (n.*94G>T)
c.282G>T (p.Glu94Asp)
c.585G>T (p.Glu195Asp)
17g.47222385A>CCA400022843MYL4c.493A>C (p.Lys165Gln)
c.204A>C
c.*279A>C (n.*279A>C)
c.*95A>C (n.*95A>C)
c.283A>C (p.Lys95Gln)
c.586A>C (p.Lys196Gln)
17g.47222385A>GCA400022844MYL4c.493A>G (p.Lys165Glu)
c.204A>G
c.*279A>G (n.*279A>G)
c.*95A>G (n.*95A>G)
c.283A>G (p.Lys95Glu)
c.586A>G (p.Lys196Glu)
17g.47222385A>TCA400022845MYL4c.493A>T (p.Lys165Ter)
c.204A>T
c.*279A>T (n.*279A>T)
c.*95A>T (n.*95A>T)
c.283A>T (p.Lys95Ter)
c.586A>T (p.Lys196Ter)
17g.47222386A=CA2262578045MYL4c.494A= (p.Lys165=)
c.205A=
c.*280A= (n.*280A=)
c.*96A= (n.*96A=)
c.284A= (p.Lys95=)
c.587A= (p.Lys196=)
17g.47222386A>CCA400022846MYL4c.494A>C (p.Lys165Thr)
c.205A>C
c.*280A>C (n.*280A>C)
c.*96A>C (n.*96A>C)
c.284A>C (p.Lys95Thr)
c.587A>C (p.Lys196Thr)
17g.47222386A>GCA400022847MYL4c.494A>G (p.Lys165Arg)
c.205A>G
c.*280A>G (n.*280A>G)
c.*96A>G (n.*96A>G)
c.284A>G (p.Lys95Arg)
c.587A>G (p.Lys196Arg)
gnomAD v4
17g.47222386A>TCA400022848MYL4c.494A>T (p.Lys165Met)
c.205A>T
c.*280A>T (n.*280A>T)
c.*96A>T (n.*96A>T)
c.284A>T (p.Lys95Met)
c.587A>T (p.Lys196Met)
dbSNP gnomAD v2 gnomAD v4
17g.47222387G>ACA500434348MYL4c.495G>A (p.Lys165=)
c.206G>A
c.*281G>A (n.*281G>A)
c.*97G>A (n.*97G>A)
c.285G>A (p.Lys95=)
c.588G>A (p.Lys196=)
dbSNP gnomAD v4
17g.47222387G>CCA400022849MYL4c.495G>C (p.Lys165Asn)
c.206G>C
c.*281G>C (n.*281G>C)
c.*97G>C (n.*97G>C)
c.285G>C (p.Lys95Asn)
c.588G>C (p.Lys196Asn)
17g.47222387G=CA2262578046MYL4c.495G= (p.Lys165=)
c.206G=
c.*281G= (n.*281G=)
c.*97G= (n.*97G=)
c.285G= (p.Lys95=)
c.588G= (p.Lys196=)
17g.47222387G>TCA400022850MYL4c.495G>T (p.Lys165Asn)
c.206G>T
c.*281G>T (n.*281G>T)
c.*97G>T (n.*97G>T)
c.285G>T (p.Lys95Asn)
c.588G>T (p.Lys196Asn)
dbSNP gnomAD v4
17g.47222388A>CCA400022851MYL4c.496A>C (p.Met166Leu)
c.207A>C
c.*282A>C (n.*282A>C)
c.*98A>C (n.*98A>C)
c.286A>C (p.Met96Leu)
c.589A>C (p.Met197Leu)
17g.47222388A>GCA400022853MYL4c.496A>G (p.Met166Val)
c.207A>G
c.*282A>G (n.*282A>G)
c.*98A>G (n.*98A>G)
c.286A>G (p.Met96Val)
c.589A>G (p.Met197Val)
17g.47222388A>TCA400022852MYL4c.496A>T (p.Met166Leu)
c.207A>T
c.*282A>T (n.*282A>T)
c.*98A>T (n.*98A>T)
c.286A>T (p.Met96Leu)
c.589A>T (p.Met197Leu)
17g.47222389T>ACA400022854MYL4c.497T>A (p.Met166Lys)
c.208T>A
c.*283T>A (n.*283T>A)
c.*99T>A (n.*99T>A)
c.287T>A (p.Met96Lys)
c.590T>A (p.Met197Lys)
17g.47222389T>CCA400022855MYL4c.497T>C (p.Met166Thr)
c.208T>C
c.*283T>C (n.*283T>C)
c.*99T>C (n.*99T>C)
c.287T>C (p.Met96Thr)
c.590T>C (p.Met197Thr)
dbSNP gnomAD v2 gnomAD v4
17g.47222389T>GCA400022856MYL4c.497T>G (p.Met166Arg)
c.208T>G
c.*283T>G (n.*283T>G)
c.*99T>G (n.*99T>G)
c.287T>G (p.Met96Arg)
c.590T>G (p.Met197Arg)
17g.47222389T=CA2262578047MYL4c.497T= (p.Met166=)
c.208T=
c.*283T= (n.*283T=)
c.*99T= (n.*99T=)
c.287T= (p.Met96=)
c.590T= (p.Met197=)
17g.47222390G>ACA400022857MYL4c.498G>A (p.Met166Ile)
c.209G>A
c.*284G>A (n.*284G>A)
c.*100G>A (n.*100G>A)
c.288G>A (p.Met96Ile)
c.591G>A (p.Met197Ile)
17g.47222390G>CCA400022858MYL4c.498G>C (p.Met166Ile)
c.209G>C
c.*284G>C (n.*284G>C)
c.*100G>C (n.*100G>C)
c.288G>C (p.Met96Ile)
c.591G>C (p.Met197Ile)
17g.47222390G>TCA400022859MYL4c.498G>T (p.Met166Ile)
c.209G>T
c.*284G>T (n.*284G>T)
c.*100G>T (n.*100G>T)
c.288G>T (p.Met96Ile)
c.591G>T (p.Met197Ile)
17g.47222391A=CA2262578048MYL4c.499A= (p.Thr167=)
c.210A=
c.*285A= (n.*285A=)
c.*101A= (n.*101A=)
c.289A= (p.Thr97=)
c.592A= (p.Thr198=)
17g.47222391A>CCA400022860MYL4c.499A>C (p.Thr167Pro)
c.210A>C
c.*285A>C (n.*285A>C)
c.*101A>C (n.*101A>C)
c.289A>C (p.Thr97Pro)
c.592A>C (p.Thr198Pro)
17g.47222391A>GCA8622779MYL4c.499A>G (p.Thr167Ala)
c.210A>G
c.*285A>G (n.*285A>G)
c.*101A>G (n.*101A>G)
c.289A>G (p.Thr97Ala)
c.592A>G (p.Thr198Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222391A>TCA400022861MYL4c.499A>T (p.Thr167Ser)
c.210A>T
c.*285A>T (n.*285A>T)
c.*101A>T (n.*101A>T)
c.289A>T (p.Thr97Ser)
c.592A>T (p.Thr198Ser)
17g.47222392C>ACA400022862MYL4c.500C>A (p.Thr167Asn)
c.211C>A
c.*286C>A (n.*286C>A)
c.*102C>A (n.*102C>A)
c.290C>A (p.Thr97Asn)
c.593C>A (p.Thr198Asn)
17g.47222392C>GCA400022863MYL4c.500C>G (p.Thr167Ser)
c.211C>G
c.*286C>G (n.*286C>G)
c.*102C>G (n.*102C>G)
c.290C>G (p.Thr97Ser)
c.593C>G (p.Thr198Ser)
17g.47222392C>TCA400022864MYL4c.500C>T (p.Thr167Ile)
c.211C>T
c.*286C>T (n.*286C>T)
c.*102C>T (n.*102C>T)
c.290C>T (p.Thr97Ile)
c.593C>T (p.Thr198Ile)
17g.47222393T>ACA500434370MYL4c.501T>A (p.Thr167=)
c.212T>A
c.*287T>A (n.*287T>A)
c.*103T>A (n.*103T>A)
c.291T>A (p.Thr97=)
c.594T>A (p.Thr198=)
17g.47222393T>CCA500434373MYL4c.501T>C (p.Thr167=)
c.212T>C
c.*287T>C (n.*287T>C)
c.*103T>C (n.*103T>C)
c.291T>C (p.Thr97=)
c.594T>C (p.Thr198=)
17g.47222393T>GCA500434372MYL4c.501T>G (p.Thr167=)
c.212T>G
c.*287T>G (n.*287T>G)
c.*103T>G (n.*103T>G)
c.291T>G (p.Thr97=)
c.594T>G (p.Thr198=)
17g.47222393_47222394delCA2576401869MYL4c.501_502del (p.Glu168GlyfsTer2)
c.212_213del
c.*287_*288del (n.*287_*288del)
c.*103_*104del (n.*103_*104del)
c.291_292del (p.Glu98GlyfsTer2)
c.594_595del (p.Glu199GlyfsTer2)
gnomAD v4
17g.47222394G>ACA400022867MYL4c.502G>A (p.Glu168Lys)
c.213G>A
c.*288G>A (n.*288G>A)
c.*104G>A (n.*104G>A)
c.292G>A (p.Glu98Lys)
c.595G>A (p.Glu199Lys)
dbSNP gnomAD v2 gnomAD v4
17g.47222394G>CCA400022865MYL4c.502G>C (p.Glu168Gln)
c.213G>C
c.*288G>C (n.*288G>C)
c.*104G>C (n.*104G>C)
c.292G>C (p.Glu98Gln)
c.595G>C (p.Glu199Gln)
17g.47222394G=CA2262578049MYL4c.502G= (p.Glu168=)
c.213G=
c.*288G= (n.*288G=)
c.*104G= (n.*104G=)
c.292G= (p.Glu98=)
c.595G= (p.Glu199=)
17g.47222394G>TCA400022866MYL4c.502G>T (p.Glu168Ter)
c.213G>T
c.*288G>T (n.*288G>T)
c.*104G>T (n.*104G>T)
c.292G>T (p.Glu98Ter)
c.595G>T (p.Glu199Ter)
17g.47222395A>CCA400022868MYL4c.503A>C (p.Glu168Ala)
c.214A>C
c.*289A>C (n.*289A>C)
c.*105A>C (n.*105A>C)
c.293A>C (p.Glu98Ala)
c.596A>C (p.Glu199Ala)
17g.47222395A>GCA400022869MYL4c.503A>G (p.Glu168Gly)
c.214A>G
c.*289A>G (n.*289A>G)
c.*105A>G (n.*105A>G)
c.293A>G (p.Glu98Gly)
c.596A>G (p.Glu199Gly)
17g.47222395A>TCA400022870MYL4c.503A>T (p.Glu168Val)
c.214A>T
c.*289A>T (n.*289A>T)
c.*105A>T (n.*105A>T)
c.293A>T (p.Glu98Val)
c.596A>T (p.Glu199Val)
17g.47222396G>ACA500434382MYL4c.504G>A (p.Glu168=)
c.215G>A
c.*290G>A (n.*290G>A)
c.*106G>A (n.*106G>A)
c.294G>A (p.Glu98=)
c.597G>A (p.Glu199=)
ClinVar
17g.47222396G>CCA400022871MYL4c.504G>C (p.Glu168Asp)
c.215G>C
c.*290G>C (n.*290G>C)
c.*106G>C (n.*106G>C)
c.294G>C (p.Glu98Asp)
c.597G>C (p.Glu199Asp)
17g.47222396G>TCA400022872MYL4c.504G>T (p.Glu168Asp)
c.215G>T
c.*290G>T (n.*290G>T)
c.*106G>T (n.*106G>T)
c.294G>T (p.Glu98Asp)
c.597G>T (p.Glu199Asp)
17g.47222397G>ACA400022873MYL4c.505G>A (p.Ala169Thr)
c.216G>A
c.*291G>A (n.*291G>A)
c.*107G>A (n.*107G>A)
c.295G>A (p.Ala99Thr)
c.598G>A (p.Ala200Thr)
gnomAD v4
17g.47222397G>CCA400022874MYL4c.505G>C (p.Ala169Pro)
c.216G>C
c.*291G>C (n.*291G>C)
c.*107G>C (n.*107G>C)
c.295G>C (p.Ala99Pro)
c.598G>C (p.Ala200Pro)
17g.47222397G>TCA400022876MYL4c.505G>T (p.Ala169Ser)
c.216G>T
c.*291G>T (n.*291G>T)
c.*107G>T (n.*107G>T)
c.295G>T (p.Ala99Ser)
c.598G>T (p.Ala200Ser)
17g.47222398C>ACA400022878MYL4c.506C>A (p.Ala169Asp)
c.217C>A
c.*292C>A (n.*292C>A)
c.*108C>A (n.*108C>A)
c.296C>A (p.Ala99Asp)
c.599C>A (p.Ala200Asp)
17g.47222398C>GCA400022879MYL4c.506C>G (p.Ala169Gly)
c.217C>G
c.*292C>G (n.*292C>G)
c.*108C>G (n.*108C>G)
c.296C>G (p.Ala99Gly)
c.599C>G (p.Ala200Gly)
17g.47222398C>TCA400022881MYL4c.506C>T (p.Ala169Val)
c.217C>T
c.*292C>T (n.*292C>T)
c.*108C>T (n.*108C>T)
c.296C>T (p.Ala99Val)
c.599C>T (p.Ala200Val)
17g.47222399T>ACA500434395MYL4c.507T>A (p.Ala169=)
c.218T>A
c.*293T>A (n.*293T>A)
c.*109T>A (n.*109T>A)
c.297T>A (p.Ala99=)
c.600T>A (p.Ala200=)
17g.47222399T>CCA500434390MYL4c.507T>C (p.Ala169=)
c.218T>C
c.*293T>C (n.*293T>C)
c.*109T>C (n.*109T>C)
c.297T>C (p.Ala99=)
c.600T>C (p.Ala200=)
17g.47222399T>GCA500434393MYL4c.507T>G (p.Ala169=)
c.218T>G
c.*293T>G (n.*293T>G)
c.*109T>G (n.*109T>G)
c.297T>G (p.Ala99=)
c.600T>G (p.Ala200=)
17g.47222400G>ACA400022884MYL4c.508G>A (p.Glu170Lys)
c.219G>A
c.*294G>A (n.*294G>A)
c.*110G>A (n.*110G>A)
c.298G>A (p.Glu100Lys)
c.601G>A (p.Glu201Lys)
17g.47222400G>CCA400022886MYL4c.508G>C (p.Glu170Gln)
c.219G>C
c.*294G>C (n.*294G>C)
c.*110G>C (n.*110G>C)
c.298G>C (p.Glu100Gln)
c.601G>C (p.Glu201Gln)
17g.47222400G=CA2262578050MYL4c.508G= (p.Glu170=)
c.219G=
c.*294G= (n.*294G=)
c.*110G= (n.*110G=)
c.298G= (p.Glu100=)
c.601G= (p.Glu201=)
17g.47222400G>TCA400022882MYL4c.508G>T (p.Glu170Ter)
c.219G>T
c.*294G>T (n.*294G>T)
c.*110G>T (n.*110G>T)
c.298G>T (p.Glu100Ter)
c.601G>T (p.Glu201Ter)
dbSNP
17g.47222401A>CCA400022891MYL4c.509A>C (p.Glu170Ala)
c.220A>C
c.*295A>C (n.*295A>C)
c.*111A>C (n.*111A>C)
c.299A>C (p.Glu100Ala)
c.602A>C (p.Glu201Ala)
17g.47222401A>GCA400022888MYL4c.509A>G (p.Glu170Gly)
c.220A>G
c.*295A>G (n.*295A>G)
c.*111A>G (n.*111A>G)
c.299A>G (p.Glu100Gly)
c.602A>G (p.Glu201Gly)
17g.47222401A>TCA400022889MYL4c.509A>T (p.Glu170Val)
c.220A>T
c.*295A>T (n.*295A>T)
c.*111A>T (n.*111A>T)
c.299A>T (p.Glu100Val)
c.602A>T (p.Glu201Val)
17g.47222402A=CA2262578051MYL4c.510A= (p.Glu170=)
c.221A=
c.*296A= (n.*296A=)
c.*112A= (n.*112A=)
c.300A= (p.Glu100=)
c.603A= (p.Glu201=)
17g.47222402A>CCA400022893MYL4c.510A>C (p.Glu170Asp)
c.221A>C
c.*296A>C (n.*296A>C)
c.*112A>C (n.*112A>C)
c.300A>C (p.Glu100Asp)
c.603A>C (p.Glu201Asp)
17g.47222402A>GCA500434407MYL4c.510A>G (p.Glu170=)
c.221A>G
c.*296A>G (n.*296A>G)
c.*112A>G (n.*112A>G)
c.300A>G (p.Glu100=)
c.603A>G (p.Glu201=)
dbSNP
17g.47222402A>TCA400022895MYL4c.510A>T (p.Glu170Asp)
c.221A>T
c.*296A>T (n.*296A>T)
c.*112A>T (n.*112A>T)
c.300A>T (p.Glu100Asp)
c.603A>T (p.Glu201Asp)
dbSNP gnomAD v3 gnomAD v4
17g.47222403G>ACA8622780MYL4c.511G>A (p.Val171Met)
c.222G>A
c.*297G>A (n.*297G>A)
c.*113G>A (n.*113G>A)
c.301G>A (p.Val101Met)
c.604G>A (p.Val202Met)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47222403G>CCA400022897MYL4c.511G>C (p.Val171Leu)
c.222G>C
c.*297G>C (n.*297G>C)
c.*113G>C (n.*113G>C)
c.301G>C (p.Val101Leu)
c.604G>C (p.Val202Leu)
17g.47222403G=CA2262578052MYL4c.511G= (p.Val171=)
c.222G=
c.*297G= (n.*297G=)
c.*113G= (n.*113G=)
c.301G= (p.Val101=)
c.604G= (p.Val202=)
17g.47222403G>TCA400022899MYL4c.511G>T (p.Val171Leu)
c.222G>T
c.*297G>T (n.*297G>T)
c.*113G>T (n.*113G>T)
c.301G>T (p.Val101Leu)
c.604G>T (p.Val202Leu)
17g.47222404T>ACA400022901MYL4c.512T>A (p.Val171Glu)
c.223T>A
c.*298T>A (n.*298T>A)
c.*114T>A (n.*114T>A)
c.302T>A (p.Val101Glu)
c.605T>A (p.Val202Glu)
17g.47222404T>CCA8622781MYL4c.512T>C (p.Val171Ala)
c.223T>C
c.*298T>C (n.*298T>C)
c.*114T>C (n.*114T>C)
c.302T>C (p.Val101Ala)
c.605T>C (p.Val202Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47222404T>GCA400022902MYL4c.512T>G (p.Val171Gly)
c.223T>G
c.*298T>G (n.*298T>G)
c.*114T>G (n.*114T>G)
c.302T>G (p.Val101Gly)
c.605T>G (p.Val202Gly)
17g.47222404T=CA2262578053MYL4c.512T= (p.Val171=)
c.223T=
c.*298T= (n.*298T=)
c.*114T= (n.*114T=)
c.302T= (p.Val101=)
c.605T= (p.Val202=)
17g.47222405G>ACA500434418MYL4c.513G>A (p.Val171=)
c.224G>A
c.*299G>A (n.*299G>A)
c.*115G>A (n.*115G>A)
c.303G>A (p.Val101=)
c.606G>A (p.Val202=)
17g.47222405G>CCA500434419MYL4c.513G>C (p.Val171=)
c.224G>C
c.*299G>C (n.*299G>C)
c.*115G>C (n.*115G>C)
c.303G>C (p.Val101=)
c.606G>C (p.Val202=)
17g.47222405G>TCA500434416MYL4c.513G>T (p.Val171=)
c.224G>T
c.*299G>T (n.*299G>T)
c.*115G>T (n.*115G>T)
c.303G>T (p.Val101=)
c.606G>T (p.Val202=)
17g.47222406G>ACA400022904MYL4c.514G>A (p.Glu172Lys)
c.225G>A
c.*300G>A (n.*300G>A)
c.*116G>A (n.*116G>A)
c.304G>A (p.Glu102Lys)
c.607G>A (p.Glu203Lys)
17g.47222406G>CCA400022906MYL4c.514G>C (p.Glu172Gln)
c.225G>C
c.*300G>C (n.*300G>C)
c.*116G>C (n.*116G>C)
c.304G>C (p.Glu102Gln)
c.607G>C (p.Glu203Gln)
gnomAD v3 gnomAD v4
17g.47222406G>TCA400022907MYL4c.514G>T (p.Glu172Ter)
c.225G>T
c.*300G>T (n.*300G>T)
c.*116G>T (n.*116G>T)
c.304G>T (p.Glu102Ter)
c.607G>T (p.Glu203Ter)
17g.47222407A>CCA400022911MYL4c.515A>C (p.Glu172Ala)
c.226A>C
c.*301A>C (n.*301A>C)
c.*117A>C (n.*117A>C)
c.305A>C (p.Glu102Ala)
c.608A>C (p.Glu203Ala)
17g.47222407A>GCA400022908MYL4c.515A>G (p.Glu172Gly)
c.226A>G
c.*301A>G (n.*301A>G)
c.*117A>G (n.*117A>G)
c.305A>G (p.Glu102Gly)
c.608A>G (p.Glu203Gly)
17g.47222407A>TCA400022909MYL4c.515A>T (p.Glu172Val)
c.226A>T
c.*301A>T (n.*301A>T)
c.*117A>T (n.*117A>T)
c.305A>T (p.Glu102Val)
c.608A>T (p.Glu203Val)
17g.47222408G>ACA500434423MYL4c.516G>A (p.Glu172=)
c.227G>A
c.*302G>A (n.*302G>A)
c.*118G>A (n.*118G>A)
c.306G>A (p.Glu102=)
c.609G>A (p.Glu203=)
dbSNP gnomAD v4
17g.47222408G>CCA400022912MYL4c.516G>C (p.Glu172Asp)
c.227G>C
c.*302G>C (n.*302G>C)
c.*118G>C (n.*118G>C)
c.306G>C (p.Glu102Asp)
c.609G>C (p.Glu203Asp)
17g.47222408G=CA2262578054MYL4c.516G= (p.Glu172=)
c.227G=
c.*302G= (n.*302G=)
c.*118G= (n.*118G=)
c.306G= (p.Glu102=)
c.609G= (p.Glu203=)
17g.47222408G>TCA400022914MYL4c.516G>T (p.Glu172Asp)
c.227G>T
c.*302G>T (n.*302G>T)
c.*118G>T (n.*118G>T)
c.306G>T (p.Glu102Asp)
c.609G>T (p.Glu203Asp)
17g.47222409C>ACA400022916MYL4c.517C>A (p.Gln173Lys)
c.228C>A
c.*303C>A (n.*303C>A)
c.*119C>A (n.*119C>A)
c.517C>A
c.307C>A (p.Gln103Lys)
c.610C>A (p.Gln204Lys)
gnomAD v4
17g.47222409C>GCA400022917MYL4c.517C>G (p.Gln173Glu)
c.228C>G
c.*303C>G (n.*303C>G)
c.*119C>G (n.*119C>G)
c.517C>G
c.307C>G (p.Gln103Glu)
c.610C>G (p.Gln204Glu)
17g.47222409C>TCA400022919MYL4c.517C>T (p.Gln173Ter)
c.228C>T
c.*303C>T (n.*303C>T)
c.*119C>T (n.*119C>T)
c.517C>T
c.307C>T (p.Gln103Ter)
c.610C>T (p.Gln204Ter)
dbSNP gnomAD v3 gnomAD v4
17g.47222410A=CA2262578055MYL4c.518A= (p.Gln173=)
c.229A=
c.*304A= (n.*304A=)
c.*120A= (n.*120A=)
c.308A= (p.Gln103=)
c.611A= (p.Gln204=)
17g.47222410A>CCA8622782MYL4c.518A>C (p.Gln173Pro)
c.229A>C
c.*304A>C (n.*304A>C)
c.*120A>C (n.*120A>C)
c.308A>C (p.Gln103Pro)
c.611A>C (p.Gln204Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222410A>GCA8622783MYL4c.518A>G (p.Gln173Arg)
c.229A>G
c.*304A>G (n.*304A>G)
c.*120A>G (n.*120A>G)
c.308A>G (p.Gln103Arg)
c.611A>G (p.Gln204Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222410A>TCA400022922MYL4c.518A>T (p.Gln173Leu)
c.229A>T
c.*304A>T (n.*304A>T)
c.*120A>T (n.*120A>T)
c.308A>T (p.Gln103Leu)
c.611A>T (p.Gln204Leu)
17g.47222411G>ACA500434440MYL4c.519G>A (p.Gln173=)
c.230G>A
c.*305G>A (n.*305G>A)
c.*121G>A (n.*121G>A)
c.309G>A (p.Gln103=)
c.612G>A (p.Gln204=)
17g.47222411G>CCA400022924MYL4c.519G>C (p.Gln173His)
c.230G>C
c.*305G>C (n.*305G>C)
c.*121G>C (n.*121G>C)
c.309G>C (p.Gln103His)
c.612G>C (p.Gln204His)
17g.47222411G>TCA400022925MYL4c.519G>T (p.Gln173His)
c.230G>T
c.*305G>T (n.*305G>T)
c.*121G>T (n.*121G>T)
c.309G>T (p.Gln103His)
c.612G>T (p.Gln204His)
17g.47222412C>ACA400022928MYL4c.520C>A (p.Leu174Met)
c.231C>A
c.*306C>A (n.*306C>A)
c.*122C>A (n.*122C>A)
c.310C>A (p.Leu104Met)
c.613C>A (p.Leu205Met)
17g.47222412C>GCA400022929MYL4c.520C>G (p.Leu174Val)
c.231C>G
c.*306C>G (n.*306C>G)
c.*122C>G (n.*122C>G)
c.310C>G (p.Leu104Val)
c.613C>G (p.Leu205Val)
17g.47222412C>TCA500434442MYL4c.520C>T (p.Leu174=)
c.231C>T
c.*306C>T (n.*306C>T)
c.*122C>T (n.*122C>T)
c.310C>T (p.Leu104=)
c.613C>T (p.Leu205=)
17g.47222413T>ACA400022935MYL4c.521T>A (p.Leu174Gln)
c.232T>A
c.*307T>A (n.*307T>A)
c.*123T>A (n.*123T>A)
c.311T>A (p.Leu104Gln)
c.614T>A (p.Leu205Gln)
17g.47222413T>CCA400022933MYL4c.521T>C (p.Leu174Pro)
c.232T>C
c.*307T>C (n.*307T>C)
c.*123T>C (n.*123T>C)
c.311T>C (p.Leu104Pro)
c.614T>C (p.Leu205Pro)
17g.47222413T>GCA400022931MYL4c.521T>G (p.Leu174Arg)
c.232T>G
c.*307T>G (n.*307T>G)
c.*123T>G (n.*123T>G)
c.311T>G (p.Leu104Arg)
c.614T>G (p.Leu205Arg)
17g.47222414G>ACA8622784MYL4c.522G>A (p.Leu174=)
c.233G>A
c.*308G>A (n.*308G>A)
c.*124G>A (n.*124G>A)
c.312G>A (p.Leu104=)
c.615G>A (p.Leu205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222414G>CCA500434449MYL4c.522G>C (p.Leu174=)
c.233G>C
c.*308G>C (n.*308G>C)
c.*124G>C (n.*124G>C)
c.312G>C (p.Leu104=)
c.615G>C (p.Leu205=)
17g.47222414G=CA2262578056MYL4c.522G= (p.Leu174=)
c.233G=
c.*308G= (n.*308G=)
c.*124G= (n.*124G=)
c.312G= (p.Leu104=)
c.615G= (p.Leu205=)
17g.47222414G>TCA500434450MYL4c.522G>T (p.Leu174=)
c.233G>T
c.*308G>T (n.*308G>T)
c.*124G>T (n.*124G>T)
c.312G>T (p.Leu104=)
c.615G>T (p.Leu205=)
17g.47222415T>ACA400022937MYL4c.523T>A (p.Leu175Ile)
c.234T>A
c.*309T>A (n.*309T>A)
c.*125T>A (n.*125T>A)
c.313T>A (p.Leu105Ile)
c.616T>A (p.Leu206Ile)
17g.47222415T>CCA500434453MYL4c.523T>C (p.Leu175=)
c.234T>C
c.*309T>C (n.*309T>C)
c.*125T>C (n.*125T>C)
c.313T>C (p.Leu105=)
c.616T>C (p.Leu206=)
17g.47222415T>GCA400022938MYL4c.523T>G (p.Leu175Val)
c.234T>G
c.*309T>G (n.*309T>G)
c.*125T>G (n.*125T>G)
c.313T>G (p.Leu105Val)
c.616T>G (p.Leu206Val)
17g.47222416T>ACA400022941MYL4c.524T>A (p.Leu175Ter)
c.235T>A
c.*310T>A (n.*310T>A)
c.*126T>A (n.*126T>A)
c.314T>A (p.Leu105Ter)
c.617T>A (p.Leu206Ter)
17g.47222416T>CCA400022942MYL4c.524T>C (p.Leu175Ser)
c.235T>C
c.*310T>C (n.*310T>C)
c.*126T>C (n.*126T>C)
c.314T>C (p.Leu105Ser)
c.617T>C (p.Leu206Ser)
17g.47222416T>GCA400022944MYL4c.524T>G (p.Leu175Ter)
c.235T>G
c.*310T>G (n.*310T>G)
c.*126T>G (n.*126T>G)
c.314T>G (p.Leu105Ter)
c.617T>G (p.Leu206Ter)
17g.47222417A>CCA400022947MYL4c.525A>C (p.Leu175Phe)
c.236A>C
c.*311A>C (n.*311A>C)
c.*127A>C (n.*127A>C)
c.315A>C (p.Leu105Phe)
c.618A>C (p.Leu206Phe)
17g.47222417A>GCA500434460MYL4c.525A>G (p.Leu175=)
c.236A>G
c.*311A>G (n.*311A>G)
c.*127A>G (n.*127A>G)
c.315A>G (p.Leu105=)
c.618A>G (p.Leu206=)
17g.47222417A>TCA400022945MYL4c.525A>T (p.Leu175Phe)
c.236A>T
c.*311A>T (n.*311A>T)
c.*127A>T (n.*127A>T)
c.315A>T (p.Leu105Phe)
c.618A>T (p.Leu206Phe)
17g.47222418G>ACA400022948MYL4c.526G>A (p.Ala176Thr)
c.237G>A
c.*312G>A (n.*312G>A)
c.*128G>A (n.*128G>A)
c.316G>A (p.Ala106Thr)
c.619G>A (p.Ala207Thr)
17g.47222418G>CCA400022949MYL4c.526G>C (p.Ala176Pro)
c.237G>C
c.*312G>C (n.*312G>C)
c.*128G>C (n.*128G>C)
c.316G>C (p.Ala106Pro)
c.619G>C (p.Ala207Pro)
17g.47222418G>TCA400022951MYL4c.526G>T (p.Ala176Ser)
c.237G>T
c.*312G>T (n.*312G>T)
c.*128G>T (n.*128G>T)
c.316G>T (p.Ala106Ser)
c.619G>T (p.Ala207Ser)
17g.47222419C>ACA400022952MYL4c.527C>A (p.Ala176Asp)
c.238C>A
c.*313C>A (n.*313C>A)
c.*129C>A (n.*129C>A)
c.317C>A (p.Ala106Asp)
c.620C>A (p.Ala207Asp)
gnomAD v4
17g.47222419C>GCA400022954MYL4c.527C>G (p.Ala176Gly)
c.238C>G
c.*313C>G (n.*313C>G)
c.*129C>G (n.*129C>G)
c.317C>G (p.Ala106Gly)
c.620C>G (p.Ala207Gly)
17g.47222419C>TCA400022955MYL4c.527C>T (p.Ala176Val)
c.238C>T
c.*313C>T (n.*313C>T)
c.*129C>T (n.*129C>T)
c.317C>T (p.Ala106Val)
c.620C>T (p.Ala207Val)
17g.47222420T>ACA500434464MYL4c.528T>A (p.Ala176=)
c.239T>A
c.*314T>A (n.*314T>A)
c.*130T>A (n.*130T>A)
c.318T>A (p.Ala106=)
c.621T>A (p.Ala207=)
17g.47222420T>CCA500434463MYL4c.528T>C (p.Ala176=)
c.239T>C
c.*314T>C (n.*314T>C)
c.*130T>C (n.*130T>C)
c.318T>C (p.Ala106=)
c.621T>C (p.Ala207=)
17g.47222420T>GCA500434462MYL4c.528T>G (p.Ala176=)
c.239T>G
c.*314T>G (n.*314T>G)
c.*130T>G (n.*130T>G)
c.318T>G (p.Ala106=)
c.621T>G (p.Ala207=)
17g.47222421G>ACA400022957MYL4c.529G>A (p.Gly177Arg)
c.240G>A
c.*315G>A (n.*315G>A)
c.*131G>A (n.*131G>A)
c.319G>A (p.Gly107Arg)
c.622G>A (p.Gly208Arg)
17g.47222421G>CCA400022960MYL4c.529G>C (p.Gly177Arg)
c.240G>C
c.*315G>C (n.*315G>C)
c.*131G>C (n.*131G>C)
c.319G>C (p.Gly107Arg)
c.622G>C (p.Gly208Arg)
17g.47222421G>TCA400022959MYL4c.529G>T (p.Gly177Trp)
c.240G>T
c.*315G>T (n.*315G>T)
c.*131G>T (n.*131G>T)
c.319G>T (p.Gly107Trp)
c.622G>T (p.Gly208Trp)
17g.47222422G>ACA400022962MYL4c.530G>A (p.Gly177Glu)
c.241G>A
c.*316G>A (n.*316G>A)
c.*132G>A (n.*132G>A)
c.320G>A (p.Gly107Glu)
c.623G>A (p.Gly208Glu)
ClinVar dbSNP gnomAD v4
17g.47222422G>CCA400022963MYL4c.530G>C (p.Gly177Ala)
c.241G>C
c.*316G>C (n.*316G>C)
c.*132G>C (n.*132G>C)
c.320G>C (p.Gly107Ala)
c.623G>C (p.Gly208Ala)
17g.47222422G>TCA400022965MYL4c.530G>T (p.Gly177Val)
c.241G>T
c.*316G>T (n.*316G>T)
c.*132G>T (n.*132G>T)
c.320G>T (p.Gly107Val)
c.623G>T (p.Gly208Val)
17g.47222423G>ACA500434472MYL4c.531G>A (p.Gly177=)
c.242G>A
c.*317G>A (n.*317G>A)
c.*133G>A (n.*133G>A)
c.321G>A (p.Gly107=)
c.624G>A (p.Gly208=)
gnomAD v4
17g.47222423G>CCA500434471MYL4c.531G>C (p.Gly177=)
c.242G>C
c.*317G>C (n.*317G>C)
c.*133G>C (n.*133G>C)
c.321G>C (p.Gly107=)
c.624G>C (p.Gly208=)
gnomAD v4
17g.47222423G>TCA500434473MYL4c.531G>T (p.Gly177=)
c.242G>T
c.*317G>T (n.*317G>T)
c.*133G>T (n.*133G>T)
c.321G>T (p.Gly107=)
c.624G>T (p.Gly208=)
17g.47222424C>ACA400022967MYL4c.532C>A (p.Gln178Lys)
c.243C>A
c.*318C>A (n.*318C>A)
c.*134C>A (n.*134C>A)
c.322C>A (p.Gln108Lys)
c.625C>A (p.Gln209Lys)
17g.47222424C>GCA400022969MYL4c.532C>G (p.Gln178Glu)
c.243C>G
c.*318C>G (n.*318C>G)
c.*134C>G (n.*134C>G)
c.322C>G (p.Gln108Glu)
c.625C>G (p.Gln209Glu)
17g.47222424C>TCA400022970MYL4c.532C>T (p.Gln178Ter)
c.243C>T
c.*318C>T (n.*318C>T)
c.*134C>T (n.*134C>T)
c.322C>T (p.Gln108Ter)
c.625C>T (p.Gln209Ter)
ClinVar gnomAD v4
17g.47222425A>CCA400022973MYL4c.533A>C (p.Gln178Pro)
c.244A>C
c.*319A>C (n.*319A>C)
c.*135A>C (n.*135A>C)
c.323A>C (p.Gln108Pro)
c.626A>C (p.Gln209Pro)
17g.47222425A>GCA400022974MYL4c.533A>G (p.Gln178Arg)
c.244A>G
c.*319A>G (n.*319A>G)
c.*135A>G (n.*135A>G)
c.323A>G (p.Gln108Arg)
c.626A>G (p.Gln209Arg)
17g.47222425A>TCA400022975MYL4c.533A>T (p.Gln178Leu)
c.244A>T
c.*319A>T (n.*319A>T)
c.*135A>T (n.*135A>T)
c.323A>T (p.Gln108Leu)
c.626A>T (p.Gln209Leu)
17g.47222426A>CCA400022978MYL4c.534A>C (p.Gln178His)
c.245A>C
c.*320A>C (n.*320A>C)
c.*136A>C (n.*136A>C)
c.324A>C (p.Gln108His)
c.627A>C (p.Gln209His)
17g.47222426A>GCA500434477MYL4c.534A>G (p.Gln178=)
c.245A>G
c.*320A>G (n.*320A>G)
c.*136A>G (n.*136A>G)
c.324A>G (p.Gln108=)
c.627A>G (p.Gln209=)
17g.47222426A>TCA400022979MYL4c.534A>T (p.Gln178His)
c.245A>T
c.*320A>T (n.*320A>T)
c.*136A>T (n.*136A>T)
c.324A>T (p.Gln108His)
c.627A>T (p.Gln209His)
17g.47222427G>ACA400022984MYL4c.535G>A (p.Glu179Lys)
c.246G>A
c.*321G>A (n.*321G>A)
c.*137G>A (n.*137G>A)
c.325G>A (p.Glu109Lys)
c.628G>A (p.Glu210Lys)
gnomAD v4
17g.47222427G>CCA400022982MYL4c.535G>C (p.Glu179Gln)
c.246G>C
c.*321G>C (n.*321G>C)
c.*137G>C (n.*137G>C)
c.325G>C (p.Glu109Gln)
c.628G>C (p.Glu210Gln)
gnomAD v4
17g.47222427G>TCA400022981MYL4c.535G>T (p.Glu179Ter)
c.246G>T
c.*321G>T (n.*321G>T)
c.*137G>T (n.*137G>T)
c.325G>T (p.Glu109Ter)
c.628G>T (p.Glu210Ter)
17g.47222428A>CCA400022986MYL4c.536A>C (p.Glu179Ala)
c.247A>C
c.*322A>C (n.*322A>C)
c.*138A>C (n.*138A>C)
c.326A>C (p.Glu109Ala)
c.629A>C (p.Glu210Ala)
17g.47222428A>GCA400022989MYL4c.536A>G (p.Glu179Gly)
c.247A>G
c.*322A>G (n.*322A>G)
c.*138A>G (n.*138A>G)
c.326A>G (p.Glu109Gly)
c.629A>G (p.Glu210Gly)
17g.47222428A>TCA400022988MYL4c.536A>T (p.Glu179Val)
c.247A>T
c.*322A>T (n.*322A>T)
c.*138A>T (n.*138A>T)
c.326A>T (p.Glu109Val)
c.629A>T (p.Glu210Val)
17g.47222429G>ACA8622785MYL4c.537G>A (p.Glu179=)
c.248G>A
c.*323G>A (n.*323G>A)
c.*139G>A (n.*139G>A)
c.327G>A (p.Glu109=)
c.630G>A (p.Glu210=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222429G>CCA400022993MYL4c.537G>C (p.Glu179Asp)
c.248G>C
c.*323G>C (n.*323G>C)
c.*139G>C (n.*139G>C)
c.327G>C (p.Glu109Asp)
c.630G>C (p.Glu210Asp)
17g.47222429G=CA2262578057MYL4c.537G= (p.Glu179=)
c.248G=
c.*323G= (n.*323G=)
c.*139G= (n.*139G=)
c.327G= (p.Glu109=)
c.630G= (p.Glu210=)
17g.47222429G>TCA400022991MYL4c.537G>T (p.Glu179Asp)
c.248G>T
c.*323G>T (n.*323G>T)
c.*139G>T (n.*139G>T)
c.327G>T (p.Glu109Asp)
c.630G>T (p.Glu210Asp)
17g.47222430G>ACA400022994MYL4c.538G>A (p.Asp180Asn)
c.249G>A
c.*324G>A (n.*324G>A)
c.*140G>A (n.*140G>A)
c.328G>A (p.Asp110Asn)
c.631G>A (p.Asp211Asn)
17g.47222430G>CCA400022998MYL4c.538G>C (p.Asp180His)
c.249G>C
c.*324G>C (n.*324G>C)
c.*140G>C (n.*140G>C)
c.328G>C (p.Asp110His)
c.631G>C (p.Asp211His)
17g.47222430G>TCA400022996MYL4c.538G>T (p.Asp180Tyr)
c.249G>T
c.*324G>T (n.*324G>T)
c.*140G>T (n.*140G>T)
c.328G>T (p.Asp110Tyr)
c.631G>T (p.Asp211Tyr)
17g.47222431A>CCA400023000MYL4c.539A>C (p.Asp180Ala)
c.250A>C
c.*325A>C (n.*325A>C)
c.*141A>C (n.*141A>C)
c.329A>C (p.Asp110Ala)
c.632A>C (p.Asp211Ala)
17g.47222431A>GCA400023001MYL4c.539A>G (p.Asp180Gly)
c.250A>G
c.*325A>G (n.*325A>G)
c.*141A>G (n.*141A>G)
c.329A>G (p.Asp110Gly)
c.632A>G (p.Asp211Gly)
17g.47222431A>TCA400023002MYL4c.539A>T (p.Asp180Val)
c.250A>T
c.*325A>T (n.*325A>T)
c.*141A>T (n.*141A>T)
c.329A>T (p.Asp110Val)
c.632A>T (p.Asp211Val)
17g.47222432T>ACA400023004MYL4c.540T>A (p.Asp180Glu)
c.251T>A
c.*326T>A (n.*326T>A)
c.*142T>A (n.*142T>A)
c.330T>A (p.Asp110Glu)
c.633T>A (p.Asp211Glu)
gnomAD v4
17g.47222432T>CCA500434490MYL4c.540T>C (p.Asp180=)
c.251T>C
c.*326T>C (n.*326T>C)
c.*142T>C (n.*142T>C)
c.330T>C (p.Asp110=)
c.633T>C (p.Asp211=)
17g.47222432T>GCA400023005MYL4c.540T>G (p.Asp180Glu)
c.251T>G
c.*326T>G (n.*326T>G)
c.*142T>G (n.*142T>G)
c.330T>G (p.Asp110Glu)
c.633T>G (p.Asp211Glu)
17g.47222433G>ACA400023007MYL4c.541G>A (p.Ala181Thr)
c.252G>A
c.*327G>A (n.*327G>A)
c.*143G>A (n.*143G>A)
c.331G>A (p.Ala111Thr)
c.634G>A (p.Ala212Thr)
17g.47222433G>CCA400023009MYL4c.541G>C (p.Ala181Pro)
c.252G>C
c.*327G>C (n.*327G>C)
c.*143G>C (n.*143G>C)
c.331G>C (p.Ala111Pro)
c.634G>C (p.Ala212Pro)
17g.47222433G>TCA400023010MYL4c.541G>T (p.Ala181Ser)
c.252G>T
c.*327G>T (n.*327G>T)
c.*143G>T (n.*143G>T)
c.331G>T (p.Ala111Ser)
c.634G>T (p.Ala212Ser)
17g.47222433_47222434delinsGCCA2262578058MYL4c.541_542delinsGC (p.Ala181=)
c.252_253delinsGC
c.*327_*328delinsGC (n.*327_*328delinsGC)
c.*143_*144delinsGC (n.*143_*144delinsGC)
c.331_332delinsGC (p.Ala111=)
c.634_635delinsGC (p.Ala212=)
17g.47222434C>ACA400023013MYL4c.542C>A (p.Ala181Asp)
c.253C>A
c.*328C>A (n.*328C>A)
c.*144C>A (n.*144C>A)
c.332C>A (p.Ala111Asp)
c.635C>A (p.Ala212Asp)
17g.47222434C=CA2262578059MYL4c.542C= (p.Ala181=)
c.253C=
c.*328C= (n.*328C=)
c.*144C= (n.*144C=)
c.332C= (p.Ala111=)
c.635C= (p.Ala212=)
17g.47222434C>GCA400023015MYL4c.542C>G (p.Ala181Gly)
c.253C>G
c.*328C>G (n.*328C>G)
c.*144C>G (n.*144C>G)
c.332C>G (p.Ala111Gly)
c.635C>G (p.Ala212Gly)
17g.47222434C>TCA400023016MYL4c.542C>T (p.Ala181Val)
c.253C>T
c.*328C>T (n.*328C>T)
c.*144C>T (n.*144C>T)
c.332C>T (p.Ala111Val)
c.635C>T (p.Ala212Val)
dbSNP gnomAD v4
17g.47222435delCA626374007MYL4c.543del (p.Asn182MetfsTer?)
c.254del
c.*329del (n.*329del)
c.*145del (n.*145del)
c.333del (p.Asn112MetfsTer?)
c.636del (p.Asn213MetfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47222435C>ACA500434496MYL4c.543C>A (p.Ala181=)
c.254C>A
c.*329C>A (n.*329C>A)
c.*145C>A (n.*145C>A)
c.333C>A (p.Ala111=)
c.636C>A (p.Ala212=)
17g.47222435C>GCA500434494MYL4c.543C>G (p.Ala181=)
c.254C>G
c.*329C>G (n.*329C>G)
c.*145C>G (n.*145C>G)
c.333C>G (p.Ala111=)
c.636C>G (p.Ala212=)
17g.47222435C>TCA500434497MYL4c.543C>T (p.Ala181=)
c.254C>T
c.*329C>T (n.*329C>T)
c.*145C>T (n.*145C>T)
c.333C>T (p.Ala111=)
c.636C>T (p.Ala212=)
gnomAD v4
17g.47222436A=CA2262578060MYL4c.544A= (p.Asn182=)
c.255A=
c.*330A= (n.*330A=)
c.*146A= (n.*146A=)
c.334A= (p.Asn112=)
c.637A= (p.Asn213=)
17g.47222436A>CCA400023020MYL4c.544A>C (p.Asn182His)
c.255A>C
c.*330A>C (n.*330A>C)
c.*146A>C (n.*146A>C)
c.334A>C (p.Asn112His)
c.637A>C (p.Asn213His)
17g.47222436A>GCA8622786MYL4c.544A>G (p.Asn182Asp)
c.255A>G
c.*330A>G (n.*330A>G)
c.*146A>G (n.*146A>G)
c.334A>G (p.Asn112Asp)
c.637A>G (p.Asn213Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222436A>TCA400023019MYL4c.544A>T (p.Asn182Tyr)
c.255A>T
c.*330A>T (n.*330A>T)
c.*146A>T (n.*146A>T)
c.334A>T (p.Asn112Tyr)
c.637A>T (p.Asn213Tyr)
17g.47222437A>CCA400023022MYL4c.545A>C (p.Asn182Thr)
c.256A>C
c.*331A>C (n.*331A>C)
c.*147A>C (n.*147A>C)
c.335A>C (p.Asn112Thr)
c.638A>C (p.Asn213Thr)
17g.47222437A>GCA400023024MYL4c.545A>G (p.Asn182Ser)
c.256A>G
c.*331A>G (n.*331A>G)
c.*147A>G (n.*147A>G)
c.335A>G (p.Asn112Ser)
c.638A>G (p.Asn213Ser)
gnomAD v4
17g.47222437A>TCA400023025MYL4c.545A>T (p.Asn182Ile)
c.256A>T
c.*331A>T (n.*331A>T)
c.*147A>T (n.*147A>T)
c.335A>T (p.Asn112Ile)
c.638A>T (p.Asn213Ile)
17g.47222438T>ACA400023027MYL4c.546T>A (p.Asn182Lys)
c.257T>A
c.*332T>A (n.*332T>A)
c.*148T>A (n.*148T>A)
c.336T>A (p.Asn112Lys)
c.639T>A (p.Asn213Lys)
17g.47222438T>CCA291225910MYL4c.546T>C (p.Asn182=)
c.257T>C
c.*332T>C (n.*332T>C)
c.*148T>C (n.*148T>C)
c.336T>C (p.Asn112=)
c.639T>C (p.Asn213=)
dbSNP gnomAD v3 gnomAD v4
17g.47222438T>GCA400023028MYL4c.546T>G (p.Asn182Lys)
c.257T>G
c.*332T>G (n.*332T>G)
c.*148T>G (n.*148T>G)
c.336T>G (p.Asn112Lys)
c.639T>G (p.Asn213Lys)
17g.47222438T=CA2262578061MYL4c.546T= (p.Asn182=)
c.257T=
c.*332T= (n.*332T=)
c.*148T= (n.*148T=)
c.336T= (p.Asn112=)
c.639T= (p.Asn213=)
17g.47222439G>ACA400023030MYL4c.547G>A (p.Gly183Ser)
c.258G>A
c.*333G>A (n.*333G>A)
c.*149G>A (n.*149G>A)
c.337G>A (p.Gly113Ser)
c.640G>A (p.Gly214Ser)
17g.47222439G>CCA400023031MYL4c.547G>C (p.Gly183Arg)
c.258G>C
c.*333G>C (n.*333G>C)
c.*149G>C (n.*149G>C)
c.337G>C (p.Gly113Arg)
c.640G>C (p.Gly214Arg)
17g.47222439G>TCA400023033MYL4c.547G>T (p.Gly183Cys)
c.258G>T
c.*333G>T (n.*333G>T)
c.*149G>T (n.*149G>T)
c.337G>T (p.Gly113Cys)
c.640G>T (p.Gly214Cys)
17g.47222440delCA2638433266MYL4c.548del (p.Gly183AlafsTer?)
c.259del
c.*334del (n.*334del)
c.*150del (n.*150del)
c.338del (p.Gly113AlafsTer?)
c.641del (p.Gly214AlafsTer?)
gnomAD v4
17g.47222440G>ACA400023035MYL4c.548G>A (p.Gly183Asp)
c.259G>A
c.*334G>A (n.*334G>A)
c.*150G>A (n.*150G>A)
c.338G>A (p.Gly113Asp)
c.641G>A (p.Gly214Asp)
17g.47222440G>CCA400023037MYL4c.548G>C (p.Gly183Ala)
c.259G>C
c.*334G>C (n.*334G>C)
c.*150G>C (n.*150G>C)
c.338G>C (p.Gly113Ala)
c.641G>C (p.Gly214Ala)
17g.47222440G=CA2262578062MYL4c.548G= (p.Gly183=)
c.259G=
c.*334G= (n.*334G=)
c.*150G= (n.*150G=)
c.338G= (p.Gly113=)
c.641G= (p.Gly214=)
17g.47222440G>TCA291225914MYL4c.548G>T (p.Gly183Val)
c.259G>T
c.*334G>T (n.*334G>T)
c.*150G>T (n.*150G>T)
c.338G>T (p.Gly113Val)
c.641G>T (p.Gly214Val)
dbSNP
17g.47222441C>ACA500434510MYL4c.549C>A (p.Gly183=)
c.260C>A
c.*335C>A (n.*335C>A)
c.*151C>A (n.*151C>A)
c.339C>A (p.Gly113=)
c.642C>A (p.Gly214=)
17g.47222441C=CA2262578063MYL4c.549C= (p.Gly183=)
c.260C=
c.*335C= (n.*335C=)
c.*151C= (n.*151C=)
c.339C= (p.Gly113=)
c.642C= (p.Gly214=)
17g.47222441C>GCA500434509MYL4c.549C>G (p.Gly183=)
c.260C>G
c.*335C>G (n.*335C>G)
c.*151C>G (n.*151C>G)
c.339C>G (p.Gly113=)
c.642C>G (p.Gly214=)
17g.47222441C>TCA8622787MYL4c.549C>T (p.Gly183=)
c.260C>T
c.*335C>T (n.*335C>T)
c.*151C>T (n.*151C>T)
c.339C>T (p.Gly113=)
c.642C>T (p.Gly214=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222442T>ACA400023043MYL4c.550T>A (p.Cys184Ser)
c.261T>A
c.*336T>A (n.*336T>A)
c.*152T>A (n.*152T>A)
c.340T>A (p.Cys114Ser)
c.643T>A (p.Cys215Ser)
17g.47222442T>CCA400023040MYL4c.550T>C (p.Cys184Arg)
c.261T>C
c.*336T>C (n.*336T>C)
c.*152T>C (n.*152T>C)
c.340T>C (p.Cys114Arg)
c.643T>C (p.Cys215Arg)
17g.47222442T>GCA400023041MYL4c.550T>G (p.Cys184Gly)
c.261T>G
c.*336T>G (n.*336T>G)
c.*152T>G (n.*152T>G)
c.340T>G (p.Cys114Gly)
c.643T>G (p.Cys215Gly)
17g.47222442_47222467delinsTGCATCAATTATGAAGGTATTAAGCCCA2262578064MYL4c.550_565+10delinsTGCATCAATTATGAAGGTATTAAGCC
c.261_276+10delinsTGCATCAATTATGAAGGTATTAAGCC
c.*336_*351+10delinsTGCATCAATTATGAAGGTATTAAGCC
c.*152_*167+10delinsTGCATCAATTATGAAGGTATTAAGCC
c.340_355+10delinsTGCATCAATTATGAAGGTATTAAGCC
c.643_658+10delinsTGCATCAATTATGAAGGTATTAAGCC
17g.47222443G>ACA400023045MYL4c.551G>A (p.Cys184Tyr)
c.262G>A
c.*337G>A (n.*337G>A)
c.*153G>A (n.*153G>A)
c.341G>A (p.Cys114Tyr)
c.644G>A (p.Cys215Tyr)
ClinVar dbSNP
17g.47222443G>CCA400023047MYL4c.551G>C (p.Cys184Ser)
c.262G>C
c.*337G>C (n.*337G>C)
c.*153G>C (n.*153G>C)
c.341G>C (p.Cys114Ser)
c.644G>C (p.Cys215Ser)
17g.47222443G>TCA400023048MYL4c.551G>T (p.Cys184Phe)
c.262G>T
c.*337G>T (n.*337G>T)
c.*153G>T (n.*153G>T)
c.341G>T (p.Cys114Phe)
c.644G>T (p.Cys215Phe)
17g.47222445_47222469delCA8622788MYL4c.553_565+12del
c.264_276+12del
c.*339_*351+12del
c.*155_*167+12del
c.343_355+12del
c.646_658+12del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222444C>ACA400023050MYL4c.552C>A (p.Cys184Ter)
c.263C>A
c.*338C>A (n.*338C>A)
c.*154C>A (n.*154C>A)
c.342C>A (p.Cys114Ter)
c.645C>A (p.Cys215Ter)
17g.47222444C>GCA400023051MYL4c.552C>G (p.Cys184Trp)
c.263C>G
c.*338C>G (n.*338C>G)
c.*154C>G (n.*154C>G)
c.342C>G (p.Cys114Trp)
c.645C>G (p.Cys215Trp)
17g.47222444C>TCA500434514MYL4c.552C>T (p.Cys184=)
c.263C>T
c.*338C>T (n.*338C>T)
c.*154C>T (n.*154C>T)
c.342C>T (p.Cys114=)
c.645C>T (p.Cys215=)
17g.47222445A>CCA400023054MYL4c.553A>C (p.Ile185Leu)
c.264A>C
c.*339A>C (n.*339A>C)
c.*155A>C (n.*155A>C)
c.343A>C (p.Ile115Leu)
c.646A>C (p.Ile216Leu)
17g.47222445A>GCA400023055MYL4c.553A>G (p.Ile185Val)
c.264A>G
c.*339A>G (n.*339A>G)
c.*155A>G (n.*155A>G)
c.343A>G (p.Ile115Val)
c.646A>G (p.Ile216Val)
17g.47222445A>TCA400023057MYL4c.553A>T (p.Ile185Phe)
c.264A>T
c.*339A>T (n.*339A>T)
c.*155A>T (n.*155A>T)
c.343A>T (p.Ile115Phe)
c.646A>T (p.Ile216Phe)
17g.47222446T>ACA400023061MYL4c.554T>A (p.Ile185Asn)
c.265T>A
c.*340T>A (n.*340T>A)
c.*156T>A (n.*156T>A)
c.344T>A (p.Ile115Asn)
c.647T>A (p.Ile216Asn)
17g.47222446T>CCA400023060MYL4c.554T>C (p.Ile185Thr)
c.265T>C
c.*340T>C (n.*340T>C)
c.*156T>C (n.*156T>C)
c.344T>C (p.Ile115Thr)
c.647T>C (p.Ile216Thr)
17g.47222446T>GCA400023059MYL4c.554T>G (p.Ile185Ser)
c.265T>G
c.*340T>G (n.*340T>G)
c.*156T>G (n.*156T>G)
c.344T>G (p.Ile115Ser)
c.647T>G (p.Ile216Ser)
17g.47222447C>ACA500434517MYL4c.555C>A (p.Ile185=)
c.266C>A
c.*341C>A (n.*341C>A)
c.*157C>A (n.*157C>A)
c.345C>A (p.Ile115=)
c.648C>A (p.Ile216=)
17g.47222447C>GCA400023063MYL4c.555C>G (p.Ile185Met)
c.266C>G
c.*341C>G (n.*341C>G)
c.*157C>G (n.*157C>G)
c.345C>G (p.Ile115Met)
c.648C>G (p.Ile216Met)
17g.47222447C>TCA500434518MYL4c.555C>T (p.Ile185=)
c.266C>T
c.*341C>T (n.*341C>T)
c.*157C>T (n.*157C>T)
c.345C>T (p.Ile115=)
c.648C>T (p.Ile216=)
17g.47222448A=CA2262578065MYL4c.556A= (p.Asn186=)
c.267A=
c.*342A= (n.*342A=)
c.*158A= (n.*158A=)
c.346A= (p.Asn116=)
c.649A= (p.Asn217=)
17g.47222448A>CCA400023065MYL4c.556A>C (p.Asn186His)
c.267A>C
c.*342A>C (n.*342A>C)
c.*158A>C (n.*158A>C)
c.346A>C (p.Asn116His)
c.649A>C (p.Asn217His)
17g.47222448A>GCA400023066MYL4c.556A>G (p.Asn186Asp)
c.267A>G
c.*342A>G (n.*342A>G)
c.*158A>G (n.*158A>G)
c.346A>G (p.Asn116Asp)
c.649A>G (p.Asn217Asp)
dbSNP gnomAD v4 COSMIC
17g.47222448A>TCA8622789MYL4c.556A>T (p.Asn186Tyr)
c.267A>T
c.*342A>T (n.*342A>T)
c.*158A>T (n.*158A>T)
c.346A>T (p.Asn116Tyr)
c.649A>T (p.Asn217Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222449A=CA2262578066MYL4c.557A= (p.Asn186=)
c.268A=
c.*343A= (n.*343A=)
c.*159A= (n.*159A=)
c.347A= (p.Asn116=)
c.650A= (p.Asn217=)
17g.47222449A>CCA400023069MYL4c.557A>C (p.Asn186Thr)
c.268A>C
c.*343A>C (n.*343A>C)
c.*159A>C (n.*159A>C)
c.347A>C (p.Asn116Thr)
c.650A>C (p.Asn217Thr)
17g.47222449A>GCA8622790MYL4c.557A>G (p.Asn186Ser)
c.268A>G
c.*343A>G (n.*343A>G)
c.*159A>G (n.*159A>G)
c.347A>G (p.Asn116Ser)
c.650A>G (p.Asn217Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222449A>TCA400023071MYL4c.557A>T (p.Asn186Ile)
c.268A>T
c.*343A>T (n.*343A>T)
c.*159A>T (n.*159A>T)
c.347A>T (p.Asn116Ile)
c.650A>T (p.Asn217Ile)
gnomAD v4
17g.47222450T>ACA400023073MYL4c.558T>A (p.Asn186Lys)
c.269T>A
c.*344T>A (n.*344T>A)
c.*160T>A (n.*160T>A)
c.348T>A (p.Asn116Lys)
c.651T>A (p.Asn217Lys)
17g.47222450T>CCA500434519MYL4c.558T>C (p.Asn186=)
c.269T>C
c.*344T>C (n.*344T>C)
c.*160T>C (n.*160T>C)
c.348T>C (p.Asn116=)
c.651T>C (p.Asn217=)
17g.47222450T>GCA400023075MYL4c.558T>G (p.Asn186Lys)
c.269T>G
c.*344T>G (n.*344T>G)
c.*160T>G (n.*160T>G)
c.348T>G (p.Asn116Lys)
c.651T>G (p.Asn217Lys)
17g.47222451T>ACA291225925MYL4c.559T>A (p.Tyr187Asn)
c.270T>A
c.*345T>A (n.*345T>A)
c.*161T>A (n.*161T>A)
c.349T>A (p.Tyr117Asn)
c.652T>A (p.Tyr218Asn)
dbSNP gnomAD v4
17g.47222451T>CCA400023077MYL4c.559T>C (p.Tyr187His)
c.270T>C
c.*345T>C (n.*345T>C)
c.*161T>C (n.*161T>C)
c.349T>C (p.Tyr117His)
c.652T>C (p.Tyr218His)
17g.47222451T>GCA400023078MYL4c.559T>G (p.Tyr187Asp)
c.270T>G
c.*345T>G (n.*345T>G)
c.*161T>G (n.*161T>G)
c.349T>G (p.Tyr117Asp)
c.652T>G (p.Tyr218Asp)
17g.47222451T=CA2262578067MYL4c.559T= (p.Tyr187=)
c.270T=
c.*345T= (n.*345T=)
c.*161T= (n.*161T=)
c.349T= (p.Tyr117=)
c.652T= (p.Tyr218=)
17g.47222452A>CCA400023084MYL4c.560A>C (p.Tyr187Ser)
c.271A>C
c.*346A>C (n.*346A>C)
c.*162A>C (n.*162A>C)
c.350A>C (p.Tyr117Ser)
c.653A>C (p.Tyr218Ser)
17g.47222452A>GCA400023082MYL4c.560A>G (p.Tyr187Cys)
c.271A>G
c.*346A>G (n.*346A>G)
c.*162A>G (n.*162A>G)
c.350A>G (p.Tyr117Cys)
c.653A>G (p.Tyr218Cys)
17g.47222452A>TCA400023080MYL4c.560A>T (p.Tyr187Phe)
c.271A>T
c.*346A>T (n.*346A>T)
c.*162A>T (n.*162A>T)
c.350A>T (p.Tyr117Phe)
c.653A>T (p.Tyr218Phe)
17g.47222453T>ACA400023085MYL4c.561T>A (p.Tyr187Ter)
c.272T>A
c.*347T>A (n.*347T>A)
c.*163T>A (n.*163T>A)
c.351T>A (p.Tyr117Ter)
c.654T>A (p.Tyr218Ter)
17g.47222453T>CCA500434521MYL4c.561T>C (p.Tyr187=)
c.272T>C
c.*347T>C (n.*347T>C)
c.*163T>C (n.*163T>C)
c.351T>C (p.Tyr117=)
c.654T>C (p.Tyr218=)
gnomAD v4
17g.47222453T>GCA400023087MYL4c.561T>G (p.Tyr187Ter)
c.272T>G
c.*347T>G (n.*347T>G)
c.*163T>G (n.*163T>G)
c.351T>G (p.Tyr117Ter)
c.654T>G (p.Tyr218Ter)
17g.47222454G>ACA400023089MYL4c.562G>A (p.Glu188Lys)
c.273G>A
c.*348G>A (n.*348G>A)
c.*164G>A (n.*164G>A)
c.352G>A (p.Glu118Lys)
c.655G>A (p.Glu219Lys)
17g.47222454G>CCA400023091MYL4c.562G>C (p.Glu188Gln)
c.273G>C
c.*348G>C (n.*348G>C)
c.*164G>C (n.*164G>C)
c.352G>C (p.Glu118Gln)
c.655G>C (p.Glu219Gln)
17g.47222454G>TCA400023092MYL4c.562G>T (p.Glu188Ter)
c.273G>T
c.*348G>T (n.*348G>T)
c.*164G>T (n.*164G>T)
c.352G>T (p.Glu118Ter)
c.655G>T (p.Glu219Ter)
17g.47222455A>CCA400023094MYL4c.563A>C (p.Glu188Ala)
c.274A>C
c.*349A>C (n.*349A>C)
c.*165A>C (n.*165A>C)
c.353A>C (p.Glu118Ala)
c.656A>C (p.Glu219Ala)
17g.47222455A>GCA400023096MYL4c.563A>G (p.Glu188Gly)
c.274A>G
c.*349A>G (n.*349A>G)
c.*165A>G (n.*165A>G)
c.353A>G (p.Glu118Gly)
c.656A>G (p.Glu219Gly)
17g.47222455A>TCA400023097MYL4c.563A>T (p.Glu188Val)
c.274A>T
c.*349A>T (n.*349A>T)
c.*165A>T (n.*165A>T)
c.353A>T (p.Glu118Val)
c.656A>T (p.Glu219Val)
17g.47222456A>CCA400023099MYL4c.564A>C (p.Glu188Asp)
c.275A>C
c.*350A>C (n.*350A>C)
c.*166A>C (n.*166A>C)
c.354A>C (p.Glu118Asp)
c.657A>C (p.Glu219Asp)
17g.47222456A>GCA500434525MYL4c.564A>G (p.Glu188=)
c.275A>G
c.*350A>G (n.*350A>G)
c.*166A>G (n.*166A>G)
c.354A>G (p.Glu118=)
c.657A>G (p.Glu219=)
17g.47222456A>TCA400023100MYL4c.564A>T (p.Glu188Asp)
c.275A>T
c.*350A>T (n.*350A>T)
c.*166A>T (n.*166A>T)
c.354A>T (p.Glu118Asp)
c.657A>T (p.Glu219Asp)
17g.47222457G>ACA400023102MYL4c.565G>A (p.Ala189Thr)
c.276G>A
c.*351G>A (n.*351G>A)
c.*167G>A (n.*167G>A)
c.355G>A (p.Ala119Thr)
c.658G>A (p.Ala220Thr)
17g.47222457G>CCA400023104MYL4c.565G>C (p.Ala189Pro)
c.276G>C
c.*351G>C (n.*351G>C)
c.*167G>C (n.*167G>C)
c.355G>C (p.Ala119Pro)
c.658G>C (p.Ala220Pro)
17g.47222457G>TCA400023105MYL4c.565G>T (p.Ala189Ser)
c.276G>T
c.*351G>T (n.*351G>T)
c.*167G>T (n.*167G>T)
c.355G>T (p.Ala119Ser)
c.658G>T (p.Ala220Ser)
17g.47222458G>ACA400023109MYL4c.565+1G>A (n.565+1G>A)
c.276+1G>A
c.*351+1G>A (n.*351+1G>A)
c.*167+1G>A (n.*167+1G>A)
c.355+1G>A (n.355+1G>A)
c.658+1G>A (n.658+1G>A)
17g.47222458G>CCA400023108MYL4c.565+1G>C (n.565+1G>C)
c.276+1G>C
c.*351+1G>C (n.*351+1G>C)
c.*167+1G>C (n.*167+1G>C)
c.355+1G>C (n.355+1G>C)
c.658+1G>C (n.658+1G>C)
17g.47222458G>TCA400023106MYL4c.565+1G>T (n.565+1G>T)
c.276+1G>T
c.*351+1G>T (n.*351+1G>T)
c.*167+1G>T (n.*167+1G>T)
c.355+1G>T (n.355+1G>T)
c.658+1G>T (n.658+1G>T)
17g.47222459T>ACA400023111MYL4c.565+2T>A (n.565+2T>A)
c.276+2T>A
c.*351+2T>A (n.*351+2T>A)
c.*167+2T>A (n.*167+2T>A)
c.355+2T>A (n.355+2T>A)
c.658+2T>A (n.658+2T>A)
17g.47222459T>CCA291225927MYL4c.565+2T>C (n.565+2T>C)
c.276+2T>C
c.*351+2T>C (n.*351+2T>C)
c.*167+2T>C (n.*167+2T>C)
c.355+2T>C (n.355+2T>C)
c.658+2T>C (n.658+2T>C)
ClinVar dbSNP
17g.47222459T>GCA400023113MYL4c.565+2T>G (n.565+2T>G)
c.276+2T>G
c.*351+2T>G (n.*351+2T>G)
c.*167+2T>G (n.*167+2T>G)
c.355+2T>G (n.355+2T>G)
c.658+2T>G (n.658+2T>G)
dbSNP
17g.47222459T=CA2262578068MYL4c.565+2T= (n.565+2T=)
c.276+2T=
c.*351+2T= (n.*351+2T=)
c.*167+2T= (n.*167+2T=)
c.355+2T= (n.355+2T=)
c.658+2T= (n.658+2T=)
17g.47222460A>GCA2638433267MYL4c.565+3A>G (n.565+3A>G)
c.276+3A>G
c.*351+3A>G (n.*351+3A>G)
c.*167+3A>G (n.*167+3A>G)
c.355+3A>G (n.355+3A>G)
c.658+3A>G (n.658+3A>G)
gnomAD v4
17g.47222461T>CCA291225930MYL4c.565+4T>C (n.565+4T>C)
c.276+4T>C
c.*351+4T>C (n.*351+4T>C)
c.*167+4T>C (n.*167+4T>C)
c.355+4T>C (n.355+4T>C)
c.658+4T>C (n.658+4T>C)
ClinVar dbSNP gnomAD v4
17g.47222461T=CA2262578069MYL4c.565+4T= (n.565+4T=)
c.276+4T=
c.*351+4T= (n.*351+4T=)
c.*167+4T= (n.*167+4T=)
c.355+4T= (n.355+4T=)
c.658+4T= (n.658+4T=)
17g.47222464A=CA2262578070MYL4c.565+7A= (n.565+7A=)
c.276+7A=
c.*351+7A= (n.*351+7A=)
c.*167+7A= (n.*167+7A=)
c.355+7A= (n.355+7A=)
c.658+7A= (n.658+7A=)
17g.47222464A>GCA626374008MYL4c.565+7A>G (n.565+7A>G)
c.276+7A>G
c.*351+7A>G (n.*351+7A>G)
c.*167+7A>G (n.*167+7A>G)
c.355+7A>G (n.355+7A>G)
c.658+7A>G (n.658+7A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47222465G>ACA2576401870MYL4c.565+8G>A (n.565+8G>A)
c.276+8G>A
c.*351+8G>A (n.*351+8G>A)
c.*167+8G>A (n.*167+8G>A)
c.355+8G>A (n.355+8G>A)
c.658+8G>A (n.658+8G>A)
17g.47222465G>CCA291225933MYL4c.565+8G>C (n.565+8G>C)
c.276+8G>C
c.*351+8G>C (n.*351+8G>C)
c.*167+8G>C (n.*167+8G>C)
c.355+8G>C (n.355+8G>C)
c.658+8G>C (n.658+8G>C)
dbSNP
17g.47222465G=CA2262578071MYL4c.565+8G= (n.565+8G=)
c.276+8G=
c.*351+8G= (n.*351+8G=)
c.*167+8G= (n.*167+8G=)
c.355+8G= (n.355+8G=)
c.658+8G= (n.658+8G=)
17g.47222466C>ACA2576401871MYL4c.565+9C>A (n.565+9C>A)
c.276+9C>A
c.*351+9C>A (n.*351+9C>A)
c.*167+9C>A (n.*167+9C>A)
c.355+9C>A (n.355+9C>A)
c.658+9C>A (n.658+9C>A)
17g.47222467C>ACA500434529MYL4c.565+10C>A (n.565+10C>A)
c.276+10C>A
c.*351+10C>A (n.*351+10C>A)
c.*167+10C>A (n.*167+10C>A)
c.355+10C>A (n.355+10C>A)
c.658+10C>A (n.658+10C>A)
COSMIC
17g.47222467C=CA2262578072MYL4c.565+10C= (n.565+10C=)
c.276+10C=
c.*351+10C= (n.*351+10C=)
c.*167+10C= (n.*167+10C=)
c.355+10C= (n.355+10C=)
c.658+10C= (n.658+10C=)
17g.47222467C>TCA8622791MYL4c.565+10C>T (n.565+10C>T)
c.276+10C>T
c.*351+10C>T (n.*351+10C>T)
c.*167+10C>T (n.*167+10C>T)
c.355+10C>T (n.355+10C>T)
c.658+10C>T (n.658+10C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222468G>ACA8622792MYL4c.565+11G>A (n.565+11G>A)
c.276+11G>A
c.*351+11G>A (n.*351+11G>A)
c.*167+11G>A (n.*167+11G>A)
c.355+11G>A (n.355+11G>A)
c.658+11G>A (n.658+11G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222468G>CCA2262578074MYL4c.565+11G>C (n.565+11G>C)
c.276+11G>C
c.*351+11G>C (n.*351+11G>C)
c.*167+11G>C (n.*167+11G>C)
c.355+11G>C (n.355+11G>C)
c.658+11G>C (n.658+11G>C)
dbSNP
17g.47222468G=CA2262578073MYL4c.565+11G= (n.565+11G=)
c.276+11G=
c.*351+11G= (n.*351+11G=)
c.*167+11G= (n.*167+11G=)
c.355+11G= (n.355+11G=)
c.658+11G= (n.658+11G=)
17g.47222468G>TCA2576401872MYL4c.565+11G>T (n.565+11G>T)
c.276+11G>T
c.*351+11G>T (n.*351+11G>T)
c.*167+11G>T (n.*167+11G>T)
c.355+11G>T (n.355+11G>T)
c.658+11G>T (n.658+11G>T)
ClinVar gnomAD v4
17g.47222469C>ACA2580094118MYL4c.565+12C>A (n.565+12C>A)
c.276+12C>A
c.*351+12C>A (n.*351+12C>A)
c.*167+12C>A (n.*167+12C>A)
c.355+12C>A (n.355+12C>A)
c.658+12C>A (n.658+12C>A)
ClinVar
17g.47222469C=CA2262578075MYL4c.565+12C= (n.565+12C=)
c.276+12C=
c.*351+12C= (n.*351+12C=)
c.*167+12C= (n.*167+12C=)
c.355+12C= (n.355+12C=)
c.658+12C= (n.658+12C=)
17g.47222469C>GCA656309473MYL4c.565+12C>G (n.565+12C>G)
c.276+12C>G
c.*351+12C>G (n.*351+12C>G)
c.*167+12C>G (n.*167+12C>G)
c.355+12C>G (n.355+12C>G)
c.658+12C>G (n.658+12C>G)
COSMIC
17g.47222469C>TCA8622793MYL4c.565+12C>T (n.565+12C>T)
c.276+12C>T
c.*351+12C>T (n.*351+12C>T)
c.*167+12C>T (n.*167+12C>T)
c.355+12C>T (n.355+12C>T)
c.658+12C>T (n.658+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222470G>ACA8622794MYL4c.565+13G>A (n.565+13G>A)
c.276+13G>A
c.*351+13G>A (n.*351+13G>A)
c.*167+13G>A (n.*167+13G>A)
c.355+13G>A (n.355+13G>A)
c.658+13G>A (n.658+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222470G>CCA8622795MYL4c.565+13G>C (n.565+13G>C)
c.276+13G>C
c.*351+13G>C (n.*351+13G>C)
c.*167+13G>C (n.*167+13G>C)
c.355+13G>C (n.355+13G>C)
c.658+13G>C (n.658+13G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47222470G=CA2262578076MYL4c.565+13G= (n.565+13G=)
c.276+13G=
c.*351+13G= (n.*351+13G=)
c.*167+13G= (n.*167+13G=)
c.355+13G= (n.355+13G=)
c.658+13G= (n.658+13G=)
17g.47222470G>TCA2638433268MYL4c.565+13G>T (n.565+13G>T)
c.276+13G>T
c.*351+13G>T (n.*351+13G>T)
c.*167+13G>T (n.*167+13G>T)
c.355+13G>T (n.355+13G>T)
c.658+13G>T (n.658+13G>T)
gnomAD v4
17g.47222473T>CCA2576401873MYL4c.565+16T>C (n.565+16T>C)
c.276+16T>C
c.*351+16T>C (n.*351+16T>C)
c.*167+16T>C (n.*167+16T>C)
c.355+16T>C (n.355+16T>C)
c.658+16T>C (n.658+16T>C)
17g.47222474T>CCA8622796MYL4c.565+17T>C (n.565+17T>C)
c.276+17T>C
c.*351+17T>C (n.*351+17T>C)
c.*167+17T>C (n.*167+17T>C)
c.355+17T>C (n.355+17T>C)
c.658+17T>C (n.658+17T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47222474T=CA2262578077MYL4c.565+17T= (n.565+17T=)
c.276+17T=
c.*351+17T= (n.*351+17T=)
c.*167+17T= (n.*167+17T=)
c.355+17T= (n.355+17T=)
c.658+17T= (n.658+17T=)

Number of alleles fetched