Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.88731856G>ACA360423435MEF2Cc.305C>T (p.Ser102Leu)
c.683C>T (p.Ser228Leu)
n.620C>T
c.674C>T (p.Ser225Leu)
c.737C>T (p.Ser246Leu)
c.677C>T (p.Ser226Leu)
n.101C>T
c.539C>T (p.Ser180Leu)
c.92C>T (p.Ser31Leu)
c.257C>T (p.Ser86Leu)
5g.88731856G>CCA120008MEF2Cc.305C>G (p.Ser102Ter)
c.683C>G (p.Ser228Ter)
n.620C>G
c.674C>G (p.Ser225Ter)
c.737C>G (p.Ser246Ter)
c.677C>G (p.Ser226Ter)
n.101C>G
c.539C>G (p.Ser180Ter)
c.92C>G (p.Ser31Ter)
c.257C>G (p.Ser86Ter)
 ClinVar dbSNP
5g.88731856G=CA1562203635MEF2Cc.305C= (p.Ser102=)
c.683C= (p.Ser228=)
n.620C=
c.674C= (p.Ser225=)
c.737C= (p.Ser246=)
c.677C= (p.Ser226=)
n.101C=
c.539C= (p.Ser180=)
c.92C= (p.Ser31=)
c.257C= (p.Ser86=)
5g.88731856G>TCA360423436MEF2Cc.305C>A (p.Ser102Ter)
c.683C>A (p.Ser228Ter)
n.620C>A
c.674C>A (p.Ser225Ter)
c.737C>A (p.Ser246Ter)
c.677C>A (p.Ser226Ter)
n.101C>A
c.539C>A (p.Ser180Ter)
c.92C>A (p.Ser31Ter)
c.257C>A (p.Ser86Ter)
5g.88731857A>CCA360423437MEF2Cc.304T>G (p.Ser102Ala)
c.682T>G (p.Ser228Ala)
n.619T>G
c.673T>G (p.Ser225Ala)
c.736T>G (p.Ser246Ala)
c.676T>G (p.Ser226Ala)
n.100T>G
c.538T>G (p.Ser180Ala)
c.91T>G (p.Ser31Ala)
c.256T>G (p.Ser86Ala)
5g.88731857A>GCA360423438MEF2Cc.304T>C (p.Ser102Pro)
c.682T>C (p.Ser228Pro)
n.619T>C
c.673T>C (p.Ser225Pro)
c.736T>C (p.Ser246Pro)
c.676T>C (p.Ser226Pro)
n.100T>C
c.538T>C (p.Ser180Pro)
c.91T>C (p.Ser31Pro)
c.256T>C (p.Ser86Pro)
5g.88731857A>TCA360423439MEF2Cc.304T>A (p.Ser102Thr)
c.682T>A (p.Ser228Thr)
n.619T>A
c.673T>A (p.Ser225Thr)
c.736T>A (p.Ser246Thr)
c.676T>A (p.Ser226Thr)
n.100T>A
c.538T>A (p.Ser180Thr)
c.91T>A (p.Ser31Thr)
c.256T>A (p.Ser86Thr)
5g.88731858G>ACA445370061MEF2Cc.303C>T (p.Val101=)
c.681C>T (p.Val227=)
n.618C>T
c.672C>T (p.Val224=)
c.735C>T (p.Val245=)
c.675C>T (p.Val225=)
n.99C>T
c.537C>T (p.Val179=)
c.90C>T (p.Val30=)
c.255C>T (p.Val85=)
 dbSNP gnomAD v2 gnomAD v4
5g.88731858G>CCA445370063MEF2Cc.303C>G (p.Val101=)
c.681C>G (p.Val227=)
n.618C>G
c.672C>G (p.Val224=)
c.735C>G (p.Val245=)
c.675C>G (p.Val225=)
n.99C>G
c.537C>G (p.Val179=)
c.90C>G (p.Val30=)
c.255C>G (p.Val85=)
5g.88731858G=CA1562203636MEF2Cc.303C= (p.Val101=)
c.681C= (p.Val227=)
n.618C=
c.672C= (p.Val224=)
c.735C= (p.Val245=)
c.675C= (p.Val225=)
n.99C=
c.537C= (p.Val179=)
c.90C= (p.Val30=)
c.255C= (p.Val85=)
5g.88731858G>TCA445370065MEF2Cc.303C>A (p.Val101=)
c.681C>A (p.Val227=)
n.618C>A
c.672C>A (p.Val224=)
c.735C>A (p.Val245=)
c.675C>A (p.Val225=)
n.99C>A
c.537C>A (p.Val179=)
c.90C>A (p.Val30=)
c.255C>A (p.Val85=)
5g.88731858_88731859insCTGGTCTCCA2767370245MEF2Cc.302_303insGAGACCAG (p.Ser102ArgfsTer8)
c.680_681insGAGACCAG (p.Ser228ArgfsTer8)
n.617_618insGAGACCAG
c.671_672insGAGACCAG (p.Ser225ArgfsTer8)
c.734_735insGAGACCAG (p.Ser246ArgfsTer8)
c.674_675insGAGACCAG (p.Ser226ArgfsTer8)
c.302_303insGAGACCAG (p.Ser102ArgfsTer?)
c.674_675insGAGACCAG (p.Ser226ArgfsTer?)
n.98_99insGAGACCAG
c.536_537insGAGACCAG (p.Ser180ArgfsTer8)
c.89_90insGAGACCAG (p.Ser31ArgfsTer8)
c.254_255insGAGACCAG (p.Ser86ArgfsTer8)
5g.88731859A>CCA360423440MEF2Cc.302T>G (p.Val101Gly)
c.680T>G (p.Val227Gly)
n.617T>G
c.671T>G (p.Val224Gly)
c.734T>G (p.Val245Gly)
c.674T>G (p.Val225Gly)
n.98T>G
c.536T>G (p.Val179Gly)
c.89T>G (p.Val30Gly)
c.254T>G (p.Val85Gly)
5g.88731859A>GCA360423441MEF2Cc.302T>C (p.Val101Ala)
c.680T>C (p.Val227Ala)
n.617T>C
c.671T>C (p.Val224Ala)
c.734T>C (p.Val245Ala)
c.674T>C (p.Val225Ala)
n.98T>C
c.536T>C (p.Val179Ala)
c.89T>C (p.Val30Ala)
c.254T>C (p.Val85Ala)
 COSMIC COSMIC COSMIC COSMIC
5g.88731859A>TCA360423442MEF2Cc.302T>A (p.Val101Asp)
c.680T>A (p.Val227Asp)
n.617T>A
c.671T>A (p.Val224Asp)
c.734T>A (p.Val245Asp)
c.674T>A (p.Val225Asp)
n.98T>A
c.536T>A (p.Val179Asp)
c.89T>A (p.Val30Asp)
c.254T>A (p.Val85Asp)
5g.88731860C>ACA360423443MEF2Cc.301G>T (p.Val101Phe)
c.679G>T (p.Val227Phe)
n.616G>T
c.670G>T (p.Val224Phe)
c.733G>T (p.Val245Phe)
c.673G>T (p.Val225Phe)
n.97G>T
c.535G>T (p.Val179Phe)
c.88G>T (p.Val30Phe)
c.253G>T (p.Val85Phe)
 dbSNP
5g.88731860C=CA1562203637MEF2Cc.301G= (p.Val101=)
c.679G= (p.Val227=)
n.616G=
c.670G= (p.Val224=)
c.733G= (p.Val245=)
c.673G= (p.Val225=)
n.97G=
c.535G= (p.Val179=)
c.88G= (p.Val30=)
c.253G= (p.Val85=)
5g.88731860C>GCA360423444MEF2Cc.301G>C (p.Val101Leu)
c.679G>C (p.Val227Leu)
n.616G>C
c.670G>C (p.Val224Leu)
c.733G>C (p.Val245Leu)
c.673G>C (p.Val225Leu)
n.97G>C
c.535G>C (p.Val179Leu)
c.88G>C (p.Val30Leu)
c.253G>C (p.Val85Leu)
5g.88731860C>TCA360423445MEF2Cc.301G>A (p.Val101Ile)
c.679G>A (p.Val227Ile)
n.616G>A
c.670G>A (p.Val224Ile)
c.733G>A (p.Val245Ile)
c.673G>A (p.Val225Ile)
n.97G>A
c.535G>A (p.Val179Ile)
c.88G>A (p.Val30Ile)
c.253G>A (p.Val85Ile)
 gnomAD v4
5g.88731860_88731861dupCA2695204699MEF2Cc.300_301dup (p.Val101GlyfsTer7)
c.678_679dup (p.Val227GlyfsTer7)
n.615_616dup
c.669_670dup (p.Val224GlyfsTer7)
c.732_733dup (p.Val245GlyfsTer7)
c.672_673dup (p.Val225GlyfsTer7)
c.300_301dup (p.Val101GlyfsTer?)
c.672_673dup (p.Val225GlyfsTer?)
n.96_97dup
c.534_535dup (p.Val179GlyfsTer7)
c.87_88dup (p.Val30GlyfsTer7)
c.252_253dup (p.Val85GlyfsTer7)
5g.88731861C>ACA445370070MEF2Cc.300G>T (p.Leu100=)
c.678G>T (p.Leu226=)
n.615G>T
c.669G>T (p.Leu223=)
c.732G>T (p.Leu244=)
c.672G>T (p.Leu224=)
n.96G>T
c.534G>T (p.Leu178=)
c.87G>T (p.Leu29=)
c.252G>T (p.Leu84=)
5g.88731861C=CA1562203638MEF2Cc.300G= (p.Leu100=)
c.678G= (p.Leu226=)
n.615G=
c.669G= (p.Leu223=)
c.732G= (p.Leu244=)
c.672G= (p.Leu224=)
n.96G=
c.534G= (p.Leu178=)
c.87G= (p.Leu29=)
c.252G= (p.Leu84=)
5g.88731861C>GCA445370071MEF2Cc.300G>C (p.Leu100=)
c.678G>C (p.Leu226=)
n.615G>C
c.669G>C (p.Leu223=)
c.732G>C (p.Leu244=)
c.672G>C (p.Leu224=)
n.96G>C
c.534G>C (p.Leu178=)
c.87G>C (p.Leu29=)
c.252G>C (p.Leu84=)
5g.88731861C>TCA445370073MEF2Cc.300G>A (p.Leu100=)
c.678G>A (p.Leu226=)
n.615G>A
c.669G>A (p.Leu223=)
c.732G>A (p.Leu244=)
c.672G>A (p.Leu224=)
n.96G>A
c.534G>A (p.Leu178=)
c.87G>A (p.Leu29=)
c.252G>A (p.Leu84=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731862A>CCA360423446MEF2Cc.299T>G (p.Leu100Arg)
c.677T>G (p.Leu226Arg)
n.614T>G
c.668T>G (p.Leu223Arg)
c.731T>G (p.Leu244Arg)
c.671T>G (p.Leu224Arg)
n.95T>G
c.533T>G (p.Leu178Arg)
c.86T>G (p.Leu29Arg)
c.251T>G (p.Leu84Arg)
5g.88731862A>GCA360423448MEF2Cc.299T>C (p.Leu100Pro)
c.677T>C (p.Leu226Pro)
n.614T>C
c.668T>C (p.Leu223Pro)
c.731T>C (p.Leu244Pro)
c.671T>C (p.Leu224Pro)
n.95T>C
c.533T>C (p.Leu178Pro)
c.86T>C (p.Leu29Pro)
c.251T>C (p.Leu84Pro)
5g.88731862A>TCA360423447MEF2Cc.299T>A (p.Leu100Gln)
c.677T>A (p.Leu226Gln)
n.614T>A
c.668T>A (p.Leu223Gln)
c.731T>A (p.Leu244Gln)
c.671T>A (p.Leu224Gln)
n.95T>A
c.533T>A (p.Leu178Gln)
c.86T>A (p.Leu29Gln)
c.251T>A (p.Leu84Gln)
5g.88731863G>ACA445370077MEF2Cc.298C>T (p.Leu100=)
c.676C>T (p.Leu226=)
n.613C>T
c.667C>T (p.Leu223=)
c.730C>T (p.Leu244=)
c.670C>T (p.Leu224=)
n.94C>T
c.532C>T (p.Leu178=)
c.85C>T (p.Leu29=)
c.250C>T (p.Leu84=)
 COSMIC COSMIC COSMIC COSMIC
5g.88731863G>CCA360423449MEF2Cc.298C>G (p.Leu100Val)
c.676C>G (p.Leu226Val)
n.613C>G
c.667C>G (p.Leu223Val)
c.730C>G (p.Leu244Val)
c.670C>G (p.Leu224Val)
n.94C>G
c.532C>G (p.Leu178Val)
c.85C>G (p.Leu29Val)
c.250C>G (p.Leu84Val)
5g.88731863G>TCA360423450MEF2Cc.298C>A (p.Leu100Met)
c.676C>A (p.Leu226Met)
n.613C>A
c.667C>A (p.Leu223Met)
c.730C>A (p.Leu244Met)
c.670C>A (p.Leu224Met)
n.94C>A
c.532C>A (p.Leu178Met)
c.85C>A (p.Leu29Met)
c.250C>A (p.Leu84Met)
5g.88731864C>ACA445370079MEF2Cc.297G>T (p.Leu99=)
c.675G>T (p.Leu225=)
n.612G>T
c.666G>T (p.Leu222=)
c.729G>T (p.Leu243=)
c.669G>T (p.Leu223=)
n.93G>T
c.531G>T (p.Leu177=)
c.84G>T (p.Leu28=)
c.249G>T (p.Leu83=)
5g.88731864C>GCA445370081MEF2Cc.297G>C (p.Leu99=)
c.675G>C (p.Leu225=)
n.612G>C
c.666G>C (p.Leu222=)
c.729G>C (p.Leu243=)
c.669G>C (p.Leu223=)
n.93G>C
c.531G>C (p.Leu177=)
c.84G>C (p.Leu28=)
c.249G>C (p.Leu83=)
5g.88731864C>TCA445370083MEF2Cc.297G>A (p.Leu99=)
c.675G>A (p.Leu225=)
n.612G>A
c.666G>A (p.Leu222=)
c.729G>A (p.Leu243=)
c.669G>A (p.Leu223=)
n.93G>A
c.531G>A (p.Leu177=)
c.84G>A (p.Leu28=)
c.249G>A (p.Leu83=)
5g.88731865A>CCA360423451MEF2Cc.296T>G (p.Leu99Arg)
c.674T>G (p.Leu225Arg)
n.611T>G
c.665T>G (p.Leu222Arg)
c.728T>G (p.Leu243Arg)
c.668T>G (p.Leu223Arg)
n.92T>G
c.530T>G (p.Leu177Arg)
c.83T>G (p.Leu28Arg)
c.248T>G (p.Leu83Arg)
5g.88731865A>GCA360423452MEF2Cc.296T>C (p.Leu99Pro)
c.674T>C (p.Leu225Pro)
n.611T>C
c.665T>C (p.Leu222Pro)
c.728T>C (p.Leu243Pro)
c.668T>C (p.Leu223Pro)
n.92T>C
c.530T>C (p.Leu177Pro)
c.83T>C (p.Leu28Pro)
c.248T>C (p.Leu83Pro)
 gnomAD v4
5g.88731865A>TCA360423453MEF2Cc.296T>A (p.Leu99Gln)
c.674T>A (p.Leu225Gln)
n.611T>A
c.665T>A (p.Leu222Gln)
c.728T>A (p.Leu243Gln)
c.668T>A (p.Leu223Gln)
n.92T>A
c.530T>A (p.Leu177Gln)
c.83T>A (p.Leu28Gln)
c.248T>A (p.Leu83Gln)
5g.88731866G>ACA445370087MEF2Cc.295C>T (p.Leu99=)
c.673C>T (p.Leu225=)
n.610C>T
c.664C>T (p.Leu222=)
c.727C>T (p.Leu243=)
c.667C>T (p.Leu223=)
n.91C>T
c.529C>T (p.Leu177=)
c.82C>T (p.Leu28=)
c.247C>T (p.Leu83=)
5g.88731866G>CCA360423454MEF2Cc.295C>G (p.Leu99Val)
c.673C>G (p.Leu225Val)
n.610C>G
c.664C>G (p.Leu222Val)
c.727C>G (p.Leu243Val)
c.667C>G (p.Leu223Val)
n.91C>G
c.529C>G (p.Leu177Val)
c.82C>G (p.Leu28Val)
c.247C>G (p.Leu83Val)
5g.88731866G>TCA360423455MEF2Cc.295C>A (p.Leu99Met)
c.673C>A (p.Leu225Met)
n.610C>A
c.664C>A (p.Leu222Met)
c.727C>A (p.Leu243Met)
c.667C>A (p.Leu223Met)
n.91C>A
c.529C>A (p.Leu177Met)
c.82C>A (p.Leu28Met)
c.247C>A (p.Leu83Met)
5g.88731867A>CCA445370094MEF2Cc.294T>G (p.Gly98=)
c.672T>G (p.Gly224=)
n.609T>G
c.663T>G (p.Gly221=)
c.726T>G (p.Gly242=)
c.666T>G (p.Gly222=)
n.90T>G
c.528T>G (p.Gly176=)
c.81T>G (p.Gly27=)
c.246T>G (p.Gly82=)
5g.88731867A>GCA445370092MEF2Cc.294T>C (p.Gly98=)
c.672T>C (p.Gly224=)
n.609T>C
c.663T>C (p.Gly221=)
c.726T>C (p.Gly242=)
c.666T>C (p.Gly222=)
n.90T>C
c.528T>C (p.Gly176=)
c.81T>C (p.Gly27=)
c.246T>C (p.Gly82=)
5g.88731867A>TCA445370091MEF2Cc.294T>A (p.Gly98=)
c.672T>A (p.Gly224=)
n.609T>A
c.663T>A (p.Gly221=)
c.726T>A (p.Gly242=)
c.666T>A (p.Gly222=)
n.90T>A
c.528T>A (p.Gly176=)
c.81T>A (p.Gly27=)
c.246T>A (p.Gly82=)
5g.88731868C>ACA360423456MEF2Cc.293G>T (p.Gly98Val)
c.671G>T (p.Gly224Val)
n.608G>T
c.662G>T (p.Gly221Val)
c.725G>T (p.Gly242Val)
c.665G>T (p.Gly222Val)
n.89G>T
c.527G>T (p.Gly176Val)
c.80G>T (p.Gly27Val)
c.245G>T (p.Gly82Val)
 gnomAD v4
5g.88731868C>GCA360423457MEF2Cc.293G>C (p.Gly98Ala)
c.671G>C (p.Gly224Ala)
n.608G>C
c.662G>C (p.Gly221Ala)
c.725G>C (p.Gly242Ala)
c.665G>C (p.Gly222Ala)
n.89G>C
c.527G>C (p.Gly176Ala)
c.80G>C (p.Gly27Ala)
c.245G>C (p.Gly82Ala)
5g.88731868C>TCA360423458MEF2Cc.293G>A (p.Gly98Asp)
c.671G>A (p.Gly224Asp)
n.608G>A
c.662G>A (p.Gly221Asp)
c.725G>A (p.Gly242Asp)
c.665G>A (p.Gly222Asp)
n.89G>A
c.527G>A (p.Gly176Asp)
c.80G>A (p.Gly27Asp)
c.245G>A (p.Gly82Asp)
5g.88731869C>ACA360423459MEF2Cc.292G>T (p.Gly98Cys)
c.670G>T (p.Gly224Cys)
n.607G>T
c.661G>T (p.Gly221Cys)
c.724G>T (p.Gly242Cys)
c.664G>T (p.Gly222Cys)
n.88G>T
c.526G>T (p.Gly176Cys)
c.79G>T (p.Gly27Cys)
c.244G>T (p.Gly82Cys)
5g.88731869C>GCA360423460MEF2Cc.292G>C (p.Gly98Arg)
c.670G>C (p.Gly224Arg)
n.607G>C
c.661G>C (p.Gly221Arg)
c.724G>C (p.Gly242Arg)
c.664G>C (p.Gly222Arg)
n.88G>C
c.526G>C (p.Gly176Arg)
c.79G>C (p.Gly27Arg)
c.244G>C (p.Gly82Arg)
5g.88731869C>TCA360423461MEF2Cc.292G>A (p.Gly98Ser)
c.670G>A (p.Gly224Ser)
n.607G>A
c.661G>A (p.Gly221Ser)
c.724G>A (p.Gly242Ser)
c.664G>A (p.Gly222Ser)
n.88G>A
c.526G>A (p.Gly176Ser)
c.79G>A (p.Gly27Ser)
c.244G>A (p.Gly82Ser)
5g.88731870T>ACA445370100MEF2Cc.291A>T (p.Pro97=)
c.669A>T (p.Pro223=)
n.606A>T
c.660A>T (p.Pro220=)
c.723A>T (p.Pro241=)
c.663A>T (p.Pro221=)
n.87A>T
c.525A>T (p.Pro175=)
c.78A>T (p.Pro26=)
c.243A>T (p.Pro81=)
5g.88731870T>CCA445370101MEF2Cc.291A>G (p.Pro97=)
c.669A>G (p.Pro223=)
n.606A>G
c.660A>G (p.Pro220=)
c.723A>G (p.Pro241=)
c.663A>G (p.Pro221=)
n.87A>G
c.525A>G (p.Pro175=)
c.78A>G (p.Pro26=)
c.243A>G (p.Pro81=)
5g.88731870T>GCA445370103MEF2Cc.291A>C (p.Pro97=)
c.669A>C (p.Pro223=)
n.606A>C
c.660A>C (p.Pro220=)
c.723A>C (p.Pro241=)
c.663A>C (p.Pro221=)
n.87A>C
c.525A>C (p.Pro175=)
c.78A>C (p.Pro26=)
c.243A>C (p.Pro81=)
5g.88731871G>ACA360423462MEF2Cc.290C>T (p.Pro97Leu)
c.668C>T (p.Pro223Leu)
n.605C>T
c.659C>T (p.Pro220Leu)
c.722C>T (p.Pro241Leu)
c.662C>T (p.Pro221Leu)
n.86C>T
c.524C>T (p.Pro175Leu)
c.77C>T (p.Pro26Leu)
c.242C>T (p.Pro81Leu)
5g.88731871G>CCA360423464MEF2Cc.290C>G (p.Pro97Arg)
c.668C>G (p.Pro223Arg)
n.605C>G
c.659C>G (p.Pro220Arg)
c.722C>G (p.Pro241Arg)
c.662C>G (p.Pro221Arg)
n.86C>G
c.524C>G (p.Pro175Arg)
c.77C>G (p.Pro26Arg)
c.242C>G (p.Pro81Arg)
5g.88731871G>TCA360423463MEF2Cc.290C>A (p.Pro97Gln)
c.668C>A (p.Pro223Gln)
n.605C>A
c.659C>A (p.Pro220Gln)
c.722C>A (p.Pro241Gln)
c.662C>A (p.Pro221Gln)
n.86C>A
c.524C>A (p.Pro175Gln)
c.77C>A (p.Pro26Gln)
c.242C>A (p.Pro81Gln)
5g.88731872G>ACA360423465MEF2Cc.289C>T (p.Pro97Ser)
c.667C>T (p.Pro223Ser)
n.604C>T
c.658C>T (p.Pro220Ser)
c.721C>T (p.Pro241Ser)
c.661C>T (p.Pro221Ser)
n.85C>T
c.523C>T (p.Pro175Ser)
c.76C>T (p.Pro26Ser)
c.241C>T (p.Pro81Ser)
5g.88731872G>CCA360423466MEF2Cc.289C>G (p.Pro97Ala)
c.667C>G (p.Pro223Ala)
n.604C>G
c.658C>G (p.Pro220Ala)
c.721C>G (p.Pro241Ala)
c.661C>G (p.Pro221Ala)
n.85C>G
c.523C>G (p.Pro175Ala)
c.76C>G (p.Pro26Ala)
c.241C>G (p.Pro81Ala)
5g.88731872G>TCA360423467MEF2Cc.289C>A (p.Pro97Thr)
c.667C>A (p.Pro223Thr)
n.604C>A
c.658C>A (p.Pro220Thr)
c.721C>A (p.Pro241Thr)
c.661C>A (p.Pro221Thr)
n.85C>A
c.523C>A (p.Pro175Thr)
c.76C>A (p.Pro26Thr)
c.241C>A (p.Pro81Thr)
 gnomAD v4
5g.88731873T>ACA445370109MEF2Cc.288A>T (p.Ser96=)
c.666A>T (p.Ser222=)
n.603A>T
c.657A>T (p.Ser219=)
c.720A>T (p.Ser240=)
c.660A>T (p.Ser220=)
n.84A>T
c.522A>T (p.Ser174=)
c.75A>T (p.Ser25=)
c.240A>T (p.Ser80=)
5g.88731873T>CCA445370111MEF2Cc.288A>G (p.Ser96=)
c.666A>G (p.Ser222=)
n.603A>G
c.657A>G (p.Ser219=)
c.720A>G (p.Ser240=)
c.660A>G (p.Ser220=)
n.84A>G
c.522A>G (p.Ser174=)
c.75A>G (p.Ser25=)
c.240A>G (p.Ser80=)
5g.88731873T>GCA445370112MEF2Cc.288A>C (p.Ser96=)
c.666A>C (p.Ser222=)
n.603A>C
c.657A>C (p.Ser219=)
c.720A>C (p.Ser240=)
c.660A>C (p.Ser220=)
n.84A>C
c.522A>C (p.Ser174=)
c.75A>C (p.Ser25=)
c.240A>C (p.Ser80=)
5g.88731874G>ACA360423468MEF2Cc.287C>T (p.Ser96Leu)
c.665C>T (p.Ser222Leu)
n.602C>T
c.656C>T (p.Ser219Leu)
c.719C>T (p.Ser240Leu)
c.659C>T (p.Ser220Leu)
n.83C>T
c.521C>T (p.Ser174Leu)
c.74C>T (p.Ser25Leu)
c.239C>T (p.Ser80Leu)
5g.88731874G>CCA360423469MEF2Cc.287C>G (p.Ser96Ter)
c.665C>G (p.Ser222Ter)
n.602C>G
c.656C>G (p.Ser219Ter)
c.719C>G (p.Ser240Ter)
c.659C>G (p.Ser220Ter)
n.83C>G
c.521C>G (p.Ser174Ter)
c.74C>G (p.Ser25Ter)
c.239C>G (p.Ser80Ter)
5g.88731874G>TCA360423470MEF2Cc.287C>A (p.Ser96Ter)
c.665C>A (p.Ser222Ter)
n.602C>A
c.656C>A (p.Ser219Ter)
c.719C>A (p.Ser240Ter)
c.659C>A (p.Ser220Ter)
n.83C>A
c.521C>A (p.Ser174Ter)
c.74C>A (p.Ser25Ter)
c.239C>A (p.Ser80Ter)
5g.88731875A>CCA360423471MEF2Cc.286T>G (p.Ser96Ala)
c.664T>G (p.Ser222Ala)
n.601T>G
c.655T>G (p.Ser219Ala)
c.718T>G (p.Ser240Ala)
c.658T>G (p.Ser220Ala)
n.82T>G
c.520T>G (p.Ser174Ala)
c.73T>G (p.Ser25Ala)
c.238T>G (p.Ser80Ala)
5g.88731875A>GCA360423472MEF2Cc.286T>C (p.Ser96Pro)
c.664T>C (p.Ser222Pro)
n.601T>C
c.655T>C (p.Ser219Pro)
c.718T>C (p.Ser240Pro)
c.658T>C (p.Ser220Pro)
n.82T>C
c.520T>C (p.Ser174Pro)
c.73T>C (p.Ser25Pro)
c.238T>C (p.Ser80Pro)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731875A>TCA360423473MEF2Cc.286T>A (p.Ser96Thr)
c.664T>A (p.Ser222Thr)
n.601T>A
c.655T>A (p.Ser219Thr)
c.718T>A (p.Ser240Thr)
c.658T>A (p.Ser220Thr)
n.82T>A
c.520T>A (p.Ser174Thr)
c.73T>A (p.Ser25Thr)
c.238T>A (p.Ser80Thr)
5g.88731876G>ACA445370116MEF2Cc.285C>T (p.Asn95=)
c.663C>T (p.Asn221=)
n.600C>T
c.654C>T (p.Asn218=)
c.717C>T (p.Asn239=)
c.657C>T (p.Asn219=)
n.81C>T
c.519C>T (p.Asn173=)
c.72C>T (p.Asn24=)
c.237C>T (p.Asn79=)
5g.88731876G>CCA360423474MEF2Cc.285C>G (p.Asn95Lys)
c.663C>G (p.Asn221Lys)
n.600C>G
c.654C>G (p.Asn218Lys)
c.717C>G (p.Asn239Lys)
c.657C>G (p.Asn219Lys)
n.81C>G
c.519C>G (p.Asn173Lys)
c.72C>G (p.Asn24Lys)
c.237C>G (p.Asn79Lys)
5g.88731876G>TCA360423475MEF2Cc.285C>A (p.Asn95Lys)
c.663C>A (p.Asn221Lys)
n.600C>A
c.654C>A (p.Asn218Lys)
c.717C>A (p.Asn239Lys)
c.657C>A (p.Asn219Lys)
n.81C>A
c.519C>A (p.Asn173Lys)
c.72C>A (p.Asn24Lys)
c.237C>A (p.Asn79Lys)
5g.88731877T>ACA360423477MEF2Cc.284A>T (p.Asn95Ile)
c.662A>T (p.Asn221Ile)
n.599A>T
c.653A>T (p.Asn218Ile)
c.716A>T (p.Asn239Ile)
c.656A>T (p.Asn219Ile)
n.80A>T
c.518A>T (p.Asn173Ile)
c.71A>T (p.Asn24Ile)
c.236A>T (p.Asn79Ile)
5g.88731877T>CCA360423478MEF2Cc.284A>G (p.Asn95Ser)
c.662A>G (p.Asn221Ser)
n.599A>G
c.653A>G (p.Asn218Ser)
c.716A>G (p.Asn239Ser)
c.656A>G (p.Asn219Ser)
n.80A>G
c.518A>G (p.Asn173Ser)
c.71A>G (p.Asn24Ser)
c.236A>G (p.Asn79Ser)
5g.88731877T>GCA360423476MEF2Cc.284A>C (p.Asn95Thr)
c.662A>C (p.Asn221Thr)
n.599A>C
c.653A>C (p.Asn218Thr)
c.716A>C (p.Asn239Thr)
c.656A>C (p.Asn219Thr)
n.80A>C
c.518A>C (p.Asn173Thr)
c.71A>C (p.Asn24Thr)
c.236A>C (p.Asn79Thr)
5g.88731878T>ACA360423480MEF2Cc.283A>T (p.Asn95Tyr)
c.661A>T (p.Asn221Tyr)
n.598A>T
c.652A>T (p.Asn218Tyr)
c.715A>T (p.Asn239Tyr)
c.655A>T (p.Asn219Tyr)
n.79A>T
c.517A>T (p.Asn173Tyr)
c.70A>T (p.Asn24Tyr)
c.235A>T (p.Asn79Tyr)
5g.88731878T>CCA360423479MEF2Cc.283A>G (p.Asn95Asp)
c.661A>G (p.Asn221Asp)
n.598A>G
c.652A>G (p.Asn218Asp)
c.715A>G (p.Asn239Asp)
c.655A>G (p.Asn219Asp)
n.79A>G
c.517A>G (p.Asn173Asp)
c.70A>G (p.Asn24Asp)
c.235A>G (p.Asn79Asp)
5g.88731878T>GCA360423481MEF2Cc.283A>C (p.Asn95His)
c.661A>C (p.Asn221His)
n.598A>C
c.652A>C (p.Asn218His)
c.715A>C (p.Asn239His)
c.655A>C (p.Asn219His)
n.79A>C
c.517A>C (p.Asn173His)
c.70A>C (p.Asn24His)
c.235A>C (p.Asn79His)
5g.88731879T>ACA445370120MEF2Cc.282A>T (p.Arg94=)
c.660A>T (p.Arg220=)
n.597A>T
c.651A>T (p.Arg217=)
c.714A>T (p.Arg238=)
c.654A>T (p.Arg218=)
n.78A>T
c.516A>T (p.Arg172=)
c.69A>T (p.Arg23=)
c.234A>T (p.Arg78=)
5g.88731879T>CCA445370122MEF2Cc.282A>G (p.Arg94=)
c.660A>G (p.Arg220=)
n.597A>G
c.651A>G (p.Arg217=)
c.714A>G (p.Arg238=)
c.654A>G (p.Arg218=)
n.78A>G
c.516A>G (p.Arg172=)
c.69A>G (p.Arg23=)
c.234A>G (p.Arg78=)
5g.88731879T>GCA445370123MEF2Cc.282A>C (p.Arg94=)
c.660A>C (p.Arg220=)
n.597A>C
c.651A>C (p.Arg217=)
c.714A>C (p.Arg238=)
c.654A>C (p.Arg218=)
n.78A>C
c.516A>C (p.Arg172=)
c.69A>C (p.Arg23=)
c.234A>C (p.Arg78=)
5g.88731880C>ACA360423482MEF2Cc.281G>T (p.Arg94Leu)
c.659G>T (p.Arg220Leu)
n.596G>T
c.650G>T (p.Arg217Leu)
c.713G>T (p.Arg238Leu)
c.653G>T (p.Arg218Leu)
n.77G>T
c.515G>T (p.Arg172Leu)
c.68G>T (p.Arg23Leu)
c.233G>T (p.Arg78Leu)
5g.88731880C>GCA360423484MEF2Cc.281G>C (p.Arg94Pro)
c.659G>C (p.Arg220Pro)
n.596G>C
c.650G>C (p.Arg217Pro)
c.713G>C (p.Arg238Pro)
c.653G>C (p.Arg218Pro)
n.77G>C
c.515G>C (p.Arg172Pro)
c.68G>C (p.Arg23Pro)
c.233G>C (p.Arg78Pro)
5g.88731880C>TCA360423483MEF2Cc.281G>A (p.Arg94Gln)
c.659G>A (p.Arg220Gln)
n.596G>A
c.650G>A (p.Arg217Gln)
c.713G>A (p.Arg238Gln)
c.653G>A (p.Arg218Gln)
n.77G>A
c.515G>A (p.Arg172Gln)
c.68G>A (p.Arg23Gln)
c.233G>A (p.Arg78Gln)
 gnomAD v4
5g.88731881G>ACA360423485MEF2Cc.280C>T (p.Arg94Ter)
c.658C>T (p.Arg220Ter)
n.595C>T
c.649C>T (p.Arg217Ter)
c.712C>T (p.Arg238Ter)
c.652C>T (p.Arg218Ter)
n.76C>T
c.514C>T (p.Arg172Ter)
c.67C>T (p.Arg23Ter)
c.232C>T (p.Arg78Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
5g.88731881G>CCA360423486MEF2Cc.280C>G (p.Arg94Gly)
c.658C>G (p.Arg220Gly)
n.595C>G
c.649C>G (p.Arg217Gly)
c.712C>G (p.Arg238Gly)
c.652C>G (p.Arg218Gly)
n.76C>G
c.514C>G (p.Arg172Gly)
c.67C>G (p.Arg23Gly)
c.232C>G (p.Arg78Gly)
5g.88731881G=CA1562203639MEF2Cc.280C= (p.Arg94=)
c.658C= (p.Arg220=)
n.595C=
c.649C= (p.Arg217=)
c.712C= (p.Arg238=)
c.652C= (p.Arg218=)
n.76C=
c.514C= (p.Arg172=)
c.67C= (p.Arg23=)
c.232C= (p.Arg78=)
5g.88731881G>TCA445370128MEF2Cc.280C>A (p.Arg94=)
c.658C>A (p.Arg220=)
n.595C>A
c.649C>A (p.Arg217=)
c.712C>A (p.Arg238=)
c.652C>A (p.Arg218=)
n.76C>A
c.514C>A (p.Arg172=)
c.67C>A (p.Arg23=)
c.232C>A (p.Arg78=)
5g.88731882G>ACA445370130MEF2Cc.279C>T (p.Pro93=)
c.657C>T (p.Pro219=)
n.594C>T
c.648C>T (p.Pro216=)
c.711C>T (p.Pro237=)
c.651C>T (p.Pro217=)
n.75C>T
c.513C>T (p.Pro171=)
c.66C>T (p.Pro22=)
c.231C>T (p.Pro77=)
 ClinVar dbSNP
5g.88731882G>CCA445370132MEF2Cc.279C>G (p.Pro93=)
c.657C>G (p.Pro219=)
n.594C>G
c.648C>G (p.Pro216=)
c.711C>G (p.Pro237=)
c.651C>G (p.Pro217=)
n.75C>G
c.513C>G (p.Pro171=)
c.66C>G (p.Pro22=)
c.231C>G (p.Pro77=)
5g.88731882G=CA1562203640MEF2Cc.279C= (p.Pro93=)
c.657C= (p.Pro219=)
n.594C=
c.648C= (p.Pro216=)
c.711C= (p.Pro237=)
c.651C= (p.Pro217=)
n.75C=
c.513C= (p.Pro171=)
c.66C= (p.Pro22=)
c.231C= (p.Pro77=)
5g.88731882G>TCA445370133MEF2Cc.279C>A (p.Pro93=)
c.657C>A (p.Pro219=)
n.594C>A
c.648C>A (p.Pro216=)
c.711C>A (p.Pro237=)
c.651C>A (p.Pro217=)
n.75C>A
c.513C>A (p.Pro171=)
c.66C>A (p.Pro22=)
c.231C>A (p.Pro77=)
5g.88731883G>ACA360423487MEF2Cc.278C>T (p.Pro93Leu)
c.656C>T (p.Pro219Leu)
n.593C>T
c.647C>T (p.Pro216Leu)
c.710C>T (p.Pro237Leu)
c.650C>T (p.Pro217Leu)
n.74C>T
c.512C>T (p.Pro171Leu)
c.65C>T (p.Pro22Leu)
c.230C>T (p.Pro77Leu)
 ClinVar dbSNP
5g.88731883G>CCA360423489MEF2Cc.278C>G (p.Pro93Arg)
c.656C>G (p.Pro219Arg)
n.593C>G
c.647C>G (p.Pro216Arg)
c.710C>G (p.Pro237Arg)
c.650C>G (p.Pro217Arg)
n.74C>G
c.512C>G (p.Pro171Arg)
c.65C>G (p.Pro22Arg)
c.230C>G (p.Pro77Arg)
5g.88731883G=CA1562203641MEF2Cc.278C= (p.Pro93=)
c.656C= (p.Pro219=)
n.593C=
c.647C= (p.Pro216=)
c.710C= (p.Pro237=)
c.650C= (p.Pro217=)
n.74C=
c.512C= (p.Pro171=)
c.65C= (p.Pro22=)
c.230C= (p.Pro77=)
5g.88731883G>TCA360423488MEF2Cc.278C>A (p.Pro93His)
c.656C>A (p.Pro219His)
n.593C>A
c.647C>A (p.Pro216His)
c.710C>A (p.Pro237His)
c.650C>A (p.Pro217His)
n.74C>A
c.512C>A (p.Pro171His)
c.65C>A (p.Pro22His)
c.230C>A (p.Pro77His)
5g.88731884G>ACA360423490MEF2Cc.277C>T (p.Pro93Ser)
c.655C>T (p.Pro219Ser)
n.592C>T
c.646C>T (p.Pro216Ser)
c.709C>T (p.Pro237Ser)
c.649C>T (p.Pro217Ser)
n.73C>T
c.511C>T (p.Pro171Ser)
c.64C>T (p.Pro22Ser)
c.229C>T (p.Pro77Ser)
5g.88731884G>CCA360423491MEF2Cc.277C>G (p.Pro93Ala)
c.655C>G (p.Pro219Ala)
n.592C>G
c.646C>G (p.Pro216Ala)
c.709C>G (p.Pro237Ala)
c.649C>G (p.Pro217Ala)
n.73C>G
c.511C>G (p.Pro171Ala)
c.64C>G (p.Pro22Ala)
c.229C>G (p.Pro77Ala)
 gnomAD v4
5g.88731884G>TCA360423492MEF2Cc.277C>A (p.Pro93Thr)
c.655C>A (p.Pro219Thr)
n.592C>A
c.646C>A (p.Pro216Thr)
c.709C>A (p.Pro237Thr)
c.649C>A (p.Pro217Thr)
n.73C>A
c.511C>A (p.Pro171Thr)
c.64C>A (p.Pro22Thr)
c.229C>A (p.Pro77Thr)
 ClinVar
5g.88731885A>CCA360423493MEF2Cc.276T>G (p.Asn92Lys)
c.654T>G (p.Asn218Lys)
n.591T>G
c.645T>G (p.Asn215Lys)
c.708T>G (p.Asn236Lys)
c.648T>G (p.Asn216Lys)
n.72T>G
c.510T>G (p.Asn170Lys)
c.63T>G (p.Asn21Lys)
c.228T>G (p.Asn76Lys)
5g.88731885A>GCA445370140MEF2Cc.276T>C (p.Asn92=)
c.654T>C (p.Asn218=)
n.591T>C
c.645T>C (p.Asn215=)
c.708T>C (p.Asn236=)
c.648T>C (p.Asn216=)
n.72T>C
c.510T>C (p.Asn170=)
c.63T>C (p.Asn21=)
c.228T>C (p.Asn76=)
5g.88731885A>TCA360423494MEF2Cc.276T>A (p.Asn92Lys)
c.654T>A (p.Asn218Lys)
n.591T>A
c.645T>A (p.Asn215Lys)
c.708T>A (p.Asn236Lys)
c.648T>A (p.Asn216Lys)
n.72T>A
c.510T>A (p.Asn170Lys)
c.63T>A (p.Asn21Lys)
c.228T>A (p.Asn76Lys)
5g.88731886T>ACA360423495MEF2Cc.275A>T (p.Asn92Ile)
c.653A>T (p.Asn218Ile)
n.590A>T
c.644A>T (p.Asn215Ile)
c.707A>T (p.Asn236Ile)
c.647A>T (p.Asn216Ile)
n.71A>T
c.509A>T (p.Asn170Ile)
c.62A>T (p.Asn21Ile)
c.227A>T (p.Asn76Ile)
5g.88731886T>CCA360423496MEF2Cc.275A>G (p.Asn92Ser)
c.653A>G (p.Asn218Ser)
n.590A>G
c.644A>G (p.Asn215Ser)
c.707A>G (p.Asn236Ser)
c.647A>G (p.Asn216Ser)
n.71A>G
c.509A>G (p.Asn170Ser)
c.62A>G (p.Asn21Ser)
c.227A>G (p.Asn76Ser)
5g.88731886T>GCA360423497MEF2Cc.275A>C (p.Asn92Thr)
c.653A>C (p.Asn218Thr)
n.590A>C
c.644A>C (p.Asn215Thr)
c.707A>C (p.Asn236Thr)
c.647A>C (p.Asn216Thr)
n.71A>C
c.509A>C (p.Asn170Thr)
c.62A>C (p.Asn21Thr)
c.227A>C (p.Asn76Thr)
5g.88731887T>ACA360423498MEF2Cc.274A>T (p.Asn92Tyr)
c.652A>T (p.Asn218Tyr)
n.589A>T
c.643A>T (p.Asn215Tyr)
c.706A>T (p.Asn236Tyr)
c.646A>T (p.Asn216Tyr)
n.70A>T
c.508A>T (p.Asn170Tyr)
c.61A>T (p.Asn21Tyr)
c.226A>T (p.Asn76Tyr)
5g.88731887T>CCA360423499MEF2Cc.274A>G (p.Asn92Asp)
c.652A>G (p.Asn218Asp)
n.589A>G
c.643A>G (p.Asn215Asp)
c.706A>G (p.Asn236Asp)
c.646A>G (p.Asn216Asp)
n.70A>G
c.508A>G (p.Asn170Asp)
c.61A>G (p.Asn21Asp)
c.226A>G (p.Asn76Asp)
5g.88731887T>GCA360423500MEF2Cc.274A>C (p.Asn92His)
c.652A>C (p.Asn218His)
n.589A>C
c.643A>C (p.Asn215His)
c.706A>C (p.Asn236His)
c.646A>C (p.Asn216His)
n.70A>C
c.508A>C (p.Asn170His)
c.61A>C (p.Asn21His)
c.226A>C (p.Asn76His)
5g.88731888G>ACA122608897MEF2Cc.273C>T (p.Gly91=)
c.651C>T (p.Gly217=)
n.588C>T
c.642C>T (p.Gly214=)
c.705C>T (p.Gly235=)
c.645C>T (p.Gly215=)
n.69C>T
c.507C>T (p.Gly169=)
c.60C>T (p.Gly20=)
c.225C>T (p.Gly75=)
 dbSNP
5g.88731888G>CCA445370150MEF2Cc.273C>G (p.Gly91=)
c.651C>G (p.Gly217=)
n.588C>G
c.642C>G (p.Gly214=)
c.705C>G (p.Gly235=)
c.645C>G (p.Gly215=)
n.69C>G
c.507C>G (p.Gly169=)
c.60C>G (p.Gly20=)
c.225C>G (p.Gly75=)
5g.88731888G=CA1562203642MEF2Cc.273C= (p.Gly91=)
c.651C= (p.Gly217=)
n.588C=
c.642C= (p.Gly214=)
c.705C= (p.Gly235=)
c.645C= (p.Gly215=)
n.69C=
c.507C= (p.Gly169=)
c.60C= (p.Gly20=)
c.225C= (p.Gly75=)
5g.88731888G>TCA445370148MEF2Cc.273C>A (p.Gly91=)
c.651C>A (p.Gly217=)
n.588C>A
c.642C>A (p.Gly214=)
c.705C>A (p.Gly235=)
c.645C>A (p.Gly215=)
n.69C>A
c.507C>A (p.Gly169=)
c.60C>A (p.Gly20=)
c.225C>A (p.Gly75=)
 ClinVar dbSNP
5g.88731889C>ACA360423503MEF2Cc.272G>T (p.Gly91Val)
c.650G>T (p.Gly217Val)
n.587G>T
c.641G>T (p.Gly214Val)
c.704G>T (p.Gly235Val)
c.644G>T (p.Gly215Val)
n.68G>T
c.506G>T (p.Gly169Val)
c.59G>T (p.Gly20Val)
c.224G>T (p.Gly75Val)
5g.88731889C>GCA360423502MEF2Cc.272G>C (p.Gly91Ala)
c.650G>C (p.Gly217Ala)
n.587G>C
c.641G>C (p.Gly214Ala)
c.704G>C (p.Gly235Ala)
c.644G>C (p.Gly215Ala)
n.68G>C
c.506G>C (p.Gly169Ala)
c.59G>C (p.Gly20Ala)
c.224G>C (p.Gly75Ala)
5g.88731889C>TCA360423501MEF2Cc.272G>A (p.Gly91Asp)
c.650G>A (p.Gly217Asp)
n.587G>A
c.641G>A (p.Gly214Asp)
c.704G>A (p.Gly235Asp)
c.644G>A (p.Gly215Asp)
n.68G>A
c.506G>A (p.Gly169Asp)
c.59G>A (p.Gly20Asp)
c.224G>A (p.Gly75Asp)
5g.88731890C>ACA360423504MEF2Cc.271G>T (p.Gly91Cys)
c.649G>T (p.Gly217Cys)
n.586G>T
c.640G>T (p.Gly214Cys)
c.703G>T (p.Gly235Cys)
c.643G>T (p.Gly215Cys)
n.67G>T
c.505G>T (p.Gly169Cys)
c.58G>T (p.Gly20Cys)
c.223G>T (p.Gly75Cys)
5g.88731890C>GCA360423505MEF2Cc.271G>C (p.Gly91Arg)
c.649G>C (p.Gly217Arg)
n.586G>C
c.640G>C (p.Gly214Arg)
c.703G>C (p.Gly235Arg)
c.643G>C (p.Gly215Arg)
n.67G>C
c.505G>C (p.Gly169Arg)
c.58G>C (p.Gly20Arg)
c.223G>C (p.Gly75Arg)
5g.88731890C>TCA360423506MEF2Cc.271G>A (p.Gly91Ser)
c.649G>A (p.Gly217Ser)
n.586G>A
c.640G>A (p.Gly214Ser)
c.703G>A (p.Gly235Ser)
c.643G>A (p.Gly215Ser)
n.67G>A
c.505G>A (p.Gly169Ser)
c.58G>A (p.Gly20Ser)
c.223G>A (p.Gly75Ser)
5g.88731891A>CCA360423507MEF2Cc.270T>G (p.Tyr90Ter)
c.648T>G (p.Tyr216Ter)
n.585T>G
c.639T>G (p.Tyr213Ter)
c.702T>G (p.Tyr234Ter)
c.642T>G (p.Tyr214Ter)
n.66T>G
c.504T>G (p.Tyr168Ter)
c.57T>G (p.Tyr19Ter)
c.222T>G (p.Tyr74Ter)
5g.88731891A>GCA445370156MEF2Cc.270T>C (p.Tyr90=)
c.648T>C (p.Tyr216=)
n.585T>C
c.639T>C (p.Tyr213=)
c.702T>C (p.Tyr234=)
c.642T>C (p.Tyr214=)
n.66T>C
c.504T>C (p.Tyr168=)
c.57T>C (p.Tyr19=)
c.222T>C (p.Tyr74=)
5g.88731891A>TCA360423508MEF2Cc.270T>A (p.Tyr90Ter)
c.648T>A (p.Tyr216Ter)
n.585T>A
c.639T>A (p.Tyr213Ter)
c.702T>A (p.Tyr234Ter)
c.642T>A (p.Tyr214Ter)
n.66T>A
c.504T>A (p.Tyr168Ter)
c.57T>A (p.Tyr19Ter)
c.222T>A (p.Tyr74Ter)
5g.88731892T>ACA360423509MEF2Cc.269A>T (p.Tyr90Phe)
c.647A>T (p.Tyr216Phe)
n.584A>T
c.638A>T (p.Tyr213Phe)
c.701A>T (p.Tyr234Phe)
c.641A>T (p.Tyr214Phe)
n.65A>T
c.503A>T (p.Tyr168Phe)
c.56A>T (p.Tyr19Phe)
c.221A>T (p.Tyr74Phe)
5g.88731892T>CCA360423510MEF2Cc.269A>G (p.Tyr90Cys)
c.647A>G (p.Tyr216Cys)
n.584A>G
c.638A>G (p.Tyr213Cys)
c.701A>G (p.Tyr234Cys)
c.641A>G (p.Tyr214Cys)
n.65A>G
c.503A>G (p.Tyr168Cys)
c.56A>G (p.Tyr19Cys)
c.221A>G (p.Tyr74Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.88731892T>GCA360423511MEF2Cc.269A>C (p.Tyr90Ser)
c.647A>C (p.Tyr216Ser)
n.584A>C
c.638A>C (p.Tyr213Ser)
c.701A>C (p.Tyr234Ser)
c.641A>C (p.Tyr214Ser)
n.65A>C
c.503A>C (p.Tyr168Ser)
c.56A>C (p.Tyr19Ser)
c.221A>C (p.Tyr74Ser)
5g.88731892T=CA1562203643MEF2Cc.269A= (p.Tyr90=)
c.647A= (p.Tyr216=)
n.584A=
c.638A= (p.Tyr213=)
c.701A= (p.Tyr234=)
c.641A= (p.Tyr214=)
n.65A=
c.503A= (p.Tyr168=)
c.56A= (p.Tyr19=)
c.221A= (p.Tyr74=)
5g.88731893A>CCA360423512MEF2Cc.268T>G (p.Tyr90Asp)
c.646T>G (p.Tyr216Asp)
n.583T>G
c.637T>G (p.Tyr213Asp)
c.700T>G (p.Tyr234Asp)
c.640T>G (p.Tyr214Asp)
n.64T>G
c.502T>G (p.Tyr168Asp)
c.55T>G (p.Tyr19Asp)
c.220T>G (p.Tyr74Asp)
5g.88731893A>GCA360423513MEF2Cc.268T>C (p.Tyr90His)
c.646T>C (p.Tyr216His)
n.583T>C
c.637T>C (p.Tyr213His)
c.700T>C (p.Tyr234His)
c.640T>C (p.Tyr214His)
n.64T>C
c.502T>C (p.Tyr168His)
c.55T>C (p.Tyr19His)
c.220T>C (p.Tyr74His)
5g.88731893A>TCA360423514MEF2Cc.268T>A (p.Tyr90Asn)
c.646T>A (p.Tyr216Asn)
n.583T>A
c.637T>A (p.Tyr213Asn)
c.700T>A (p.Tyr234Asn)
c.640T>A (p.Tyr214Asn)
n.64T>A
c.502T>A (p.Tyr168Asn)
c.55T>A (p.Tyr19Asn)
c.220T>A (p.Tyr74Asn)
5g.88731894C>ACA445370162MEF2Cc.267G>T (p.Gly89=)
c.645G>T (p.Gly215=)
n.582G>T
c.636G>T (p.Gly212=)
c.699G>T (p.Gly233=)
c.639G>T (p.Gly213=)
n.63G>T
c.501G>T (p.Gly167=)
c.54G>T (p.Gly18=)
c.219G>T (p.Gly73=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731894C=CA1562203644MEF2Cc.267G= (p.Gly89=)
c.645G= (p.Gly215=)
n.582G=
c.636G= (p.Gly212=)
c.699G= (p.Gly233=)
c.639G= (p.Gly213=)
n.63G=
c.501G= (p.Gly167=)
c.54G= (p.Gly18=)
c.219G= (p.Gly73=)
5g.88731894C>GCA445370164MEF2Cc.267G>C (p.Gly89=)
c.645G>C (p.Gly215=)
n.582G>C
c.636G>C (p.Gly212=)
c.699G>C (p.Gly233=)
c.639G>C (p.Gly213=)
n.63G>C
c.501G>C (p.Gly167=)
c.54G>C (p.Gly18=)
c.219G>C (p.Gly73=)
5g.88731894C>TCA445370166MEF2Cc.267G>A (p.Gly89=)
c.645G>A (p.Gly215=)
n.582G>A
c.636G>A (p.Gly212=)
c.699G>A (p.Gly233=)
c.639G>A (p.Gly213=)
n.63G>A
c.501G>A (p.Gly167=)
c.54G>A (p.Gly18=)
c.219G>A (p.Gly73=)
 ClinVar dbSNP
5g.88731895C>ACA360423517MEF2Cc.266G>T (p.Gly89Val)
c.644G>T (p.Gly215Val)
n.581G>T
c.635G>T (p.Gly212Val)
c.698G>T (p.Gly233Val)
c.638G>T (p.Gly213Val)
n.62G>T
c.500G>T (p.Gly167Val)
c.53G>T (p.Gly18Val)
c.218G>T (p.Gly73Val)
5g.88731895C>GCA360423516MEF2Cc.266G>C (p.Gly89Ala)
c.644G>C (p.Gly215Ala)
n.581G>C
c.635G>C (p.Gly212Ala)
c.698G>C (p.Gly233Ala)
c.638G>C (p.Gly213Ala)
n.62G>C
c.500G>C (p.Gly167Ala)
c.53G>C (p.Gly18Ala)
c.218G>C (p.Gly73Ala)
5g.88731895C>TCA360423515MEF2Cc.266G>A (p.Gly89Glu)
c.644G>A (p.Gly215Glu)
n.581G>A
c.635G>A (p.Gly212Glu)
c.698G>A (p.Gly233Glu)
c.638G>A (p.Gly213Glu)
n.62G>A
c.500G>A (p.Gly167Glu)
c.53G>A (p.Gly18Glu)
c.218G>A (p.Gly73Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731896C>ACA360423518MEF2Cc.265G>T (p.Gly89Trp)
c.643G>T (p.Gly215Trp)
n.580G>T
c.634G>T (p.Gly212Trp)
c.697G>T (p.Gly233Trp)
c.637G>T (p.Gly213Trp)
n.61G>T
c.499G>T (p.Gly167Trp)
c.52G>T (p.Gly18Trp)
c.217G>T (p.Gly73Trp)
 dbSNP COSMIC COSMIC COSMIC COSMIC
5g.88731896C>GCA360423519MEF2Cc.265G>C (p.Gly89Arg)
c.643G>C (p.Gly215Arg)
n.580G>C
c.634G>C (p.Gly212Arg)
c.697G>C (p.Gly233Arg)
c.637G>C (p.Gly213Arg)
n.61G>C
c.499G>C (p.Gly167Arg)
c.52G>C (p.Gly18Arg)
c.217G>C (p.Gly73Arg)
5g.88731896C>TCA360423520MEF2Cc.265G>A (p.Gly89Arg)
c.643G>A (p.Gly215Arg)
n.580G>A
c.634G>A (p.Gly212Arg)
c.697G>A (p.Gly233Arg)
c.637G>A (p.Gly213Arg)
n.61G>A
c.499G>A (p.Gly167Arg)
c.52G>A (p.Gly18Arg)
c.217G>A (p.Gly73Arg)
 COSMIC
5g.88731897G>ACA292047MEF2Cc.264C>T (p.Asn88=)
c.642C>T (p.Asn214=)
n.579C>T
c.633C>T (p.Asn211=)
c.696C>T (p.Asn232=)
c.636C>T (p.Asn212=)
n.60C>T
c.498C>T (p.Asn166=)
c.51C>T (p.Asn17=)
c.216C>T (p.Asn72=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731897G>CCA360423521MEF2Cc.264C>G (p.Asn88Lys)
c.642C>G (p.Asn214Lys)
n.579C>G
c.633C>G (p.Asn211Lys)
c.696C>G (p.Asn232Lys)
c.636C>G (p.Asn212Lys)
n.60C>G
c.498C>G (p.Asn166Lys)
c.51C>G (p.Asn17Lys)
c.216C>G (p.Asn72Lys)
 gnomAD v4
5g.88731897G=CA1562203645MEF2Cc.264C= (p.Asn88=)
c.642C= (p.Asn214=)
n.579C=
c.633C= (p.Asn211=)
c.696C= (p.Asn232=)
c.636C= (p.Asn212=)
n.60C=
c.498C= (p.Asn166=)
c.51C= (p.Asn17=)
c.216C= (p.Asn72=)
5g.88731897G>TCA360423522MEF2Cc.264C>A (p.Asn88Lys)
c.642C>A (p.Asn214Lys)
n.579C>A
c.633C>A (p.Asn211Lys)
c.696C>A (p.Asn232Lys)
c.636C>A (p.Asn212Lys)
n.60C>A
c.498C>A (p.Asn166Lys)
c.51C>A (p.Asn17Lys)
c.216C>A (p.Asn72Lys)
5g.88731898T>ACA360423523MEF2Cc.263A>T (p.Asn88Ile)
c.641A>T (p.Asn214Ile)
n.578A>T
c.632A>T (p.Asn211Ile)
c.695A>T (p.Asn232Ile)
c.635A>T (p.Asn212Ile)
n.59A>T
c.497A>T (p.Asn166Ile)
c.50A>T (p.Asn17Ile)
c.215A>T (p.Asn72Ile)
5g.88731898T>CCA360423524MEF2Cc.263A>G (p.Asn88Ser)
c.641A>G (p.Asn214Ser)
n.578A>G
c.632A>G (p.Asn211Ser)
c.695A>G (p.Asn232Ser)
c.635A>G (p.Asn212Ser)
n.59A>G
c.497A>G (p.Asn166Ser)
c.50A>G (p.Asn17Ser)
c.215A>G (p.Asn72Ser)
 COSMIC COSMIC COSMIC COSMIC
5g.88731898T>GCA360423525MEF2Cc.263A>C (p.Asn88Thr)
c.641A>C (p.Asn214Thr)
n.578A>C
c.632A>C (p.Asn211Thr)
c.695A>C (p.Asn232Thr)
c.635A>C (p.Asn212Thr)
n.59A>C
c.497A>C (p.Asn166Thr)
c.50A>C (p.Asn17Thr)
c.215A>C (p.Asn72Thr)
5g.88731899T>ACA360423526MEF2Cc.262A>T (p.Asn88Tyr)
c.640A>T (p.Asn214Tyr)
n.577A>T
c.631A>T (p.Asn211Tyr)
c.694A>T (p.Asn232Tyr)
c.634A>T (p.Asn212Tyr)
n.58A>T
c.496A>T (p.Asn166Tyr)
c.49A>T (p.Asn17Tyr)
c.214A>T (p.Asn72Tyr)
5g.88731899T>CCA360423527MEF2Cc.262A>G (p.Asn88Asp)
c.640A>G (p.Asn214Asp)
n.577A>G
c.631A>G (p.Asn211Asp)
c.694A>G (p.Asn232Asp)
c.634A>G (p.Asn212Asp)
n.58A>G
c.496A>G (p.Asn166Asp)
c.49A>G (p.Asn17Asp)
c.214A>G (p.Asn72Asp)
5g.88731899T>GCA360423528MEF2Cc.262A>C (p.Asn88His)
c.640A>C (p.Asn214His)
n.577A>C
c.631A>C (p.Asn211His)
c.694A>C (p.Asn232His)
c.634A>C (p.Asn212His)
n.58A>C
c.496A>C (p.Asn166His)
c.49A>C (p.Asn17His)
c.214A>C (p.Asn72His)
5g.88731900C>ACA445370179MEF2Cc.261G>T (p.Gly87=)
c.639G>T (p.Gly213=)
n.576G>T
c.630G>T (p.Gly210=)
c.693G>T (p.Gly231=)
c.633G>T (p.Gly211=)
n.57G>T
c.495G>T (p.Gly165=)
c.48G>T (p.Gly16=)
c.213G>T (p.Gly71=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731900C=CA1562203646MEF2Cc.261G= (p.Gly87=)
c.639G= (p.Gly213=)
n.576G=
c.630G= (p.Gly210=)
c.693G= (p.Gly231=)
c.633G= (p.Gly211=)
n.57G=
c.495G= (p.Gly165=)
c.48G= (p.Gly16=)
c.213G= (p.Gly71=)
5g.88731900C>GCA3337256MEF2Cc.261G>C (p.Gly87=)
c.639G>C (p.Gly213=)
n.576G>C
c.630G>C (p.Gly210=)
c.693G>C (p.Gly231=)
c.633G>C (p.Gly211=)
n.57G>C
c.495G>C (p.Gly165=)
c.48G>C (p.Gly16=)
c.213G>C (p.Gly71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731900C>TCA445370180MEF2Cc.261G>A (p.Gly87=)
c.639G>A (p.Gly213=)
n.576G>A
c.630G>A (p.Gly210=)
c.693G>A (p.Gly231=)
c.633G>A (p.Gly211=)
n.57G>A
c.495G>A (p.Gly165=)
c.48G>A (p.Gly16=)
c.213G>A (p.Gly71=)
5g.88731902delCA2580073843MEF2Cc.261del
c.639del
n.576del
c.630del
c.693del
c.633del
n.57del
c.495del
c.48del
c.213del
 ClinVar
5g.88731901C>ACA360423531MEF2Cc.260G>T (p.Gly87Val)
c.638G>T (p.Gly213Val)
n.575G>T
c.629G>T (p.Gly210Val)
c.692G>T (p.Gly231Val)
c.632G>T (p.Gly211Val)
n.56G>T
c.494G>T (p.Gly165Val)
c.47G>T (p.Gly16Val)
c.212G>T (p.Gly71Val)
5g.88731901C>GCA360423529MEF2Cc.260G>C (p.Gly87Ala)
c.638G>C (p.Gly213Ala)
n.575G>C
c.629G>C (p.Gly210Ala)
c.692G>C (p.Gly231Ala)
c.632G>C (p.Gly211Ala)
n.56G>C
c.494G>C (p.Gly165Ala)
c.47G>C (p.Gly16Ala)
c.212G>C (p.Gly71Ala)
5g.88731901C>TCA360423530MEF2Cc.260G>A (p.Gly87Glu)
c.638G>A (p.Gly213Glu)
n.575G>A
c.629G>A (p.Gly210Glu)
c.692G>A (p.Gly231Glu)
c.632G>A (p.Gly211Glu)
n.56G>A
c.494G>A (p.Gly165Glu)
c.47G>A (p.Gly16Glu)
c.212G>A (p.Gly71Glu)
5g.88731902C>ACA360423532MEF2Cc.260-1G>T (n.260-1G>T)
c.638-1G>T (n.638-1G>T)
n.575-1G>T
c.629-1G>T (n.629-1G>T)
c.692-1G>T (n.692-1G>T)
c.632-1G>T (n.632-1G>T)
n.56-1G>T
c.494-1G>T (n.494-1G>T)
c.47-1G>T (n.47-1G>T)
c.212-1G>T (n.212-1G>T)
5g.88731902C>GCA360423533MEF2Cc.260-1G>C (n.260-1G>C)
c.638-1G>C (n.638-1G>C)
n.575-1G>C
c.629-1G>C (n.629-1G>C)
c.692-1G>C (n.692-1G>C)
c.632-1G>C (n.632-1G>C)
n.56-1G>C
c.494-1G>C (n.494-1G>C)
c.47-1G>C (n.47-1G>C)
c.212-1G>C (n.212-1G>C)
5g.88731902C>TCA360423534MEF2Cc.260-1G>A (n.260-1G>A)
c.638-1G>A (n.638-1G>A)
n.575-1G>A
c.629-1G>A (n.629-1G>A)
c.692-1G>A (n.692-1G>A)
c.632-1G>A (n.632-1G>A)
n.56-1G>A
c.494-1G>A (n.494-1G>A)
c.47-1G>A (n.47-1G>A)
c.212-1G>A (n.212-1G>A)
 ClinVar dbSNP
5g.88731903T>ACA360423535MEF2Cc.260-2A>T (n.260-2A>T)
c.638-2A>T (n.638-2A>T)
n.575-2A>T
c.629-2A>T (n.629-2A>T)
c.692-2A>T (n.692-2A>T)
c.632-2A>T (n.632-2A>T)
n.56-2A>T
c.494-2A>T (n.494-2A>T)
c.47-2A>T (n.47-2A>T)
c.212-2A>T (n.212-2A>T)
5g.88731903T>CCA360423536MEF2Cc.260-2A>G (n.260-2A>G)
c.638-2A>G (n.638-2A>G)
n.575-2A>G
c.629-2A>G (n.629-2A>G)
c.692-2A>G (n.692-2A>G)
c.632-2A>G (n.632-2A>G)
n.56-2A>G
c.494-2A>G (n.494-2A>G)
c.47-2A>G (n.47-2A>G)
c.212-2A>G (n.212-2A>G)
 ClinVar dbSNP
5g.88731903T>GCA360423537MEF2Cc.260-2A>C (n.260-2A>C)
c.638-2A>C (n.638-2A>C)
n.575-2A>C
c.629-2A>C (n.629-2A>C)
c.692-2A>C (n.692-2A>C)
c.632-2A>C (n.632-2A>C)
n.56-2A>C
c.494-2A>C (n.494-2A>C)
c.47-2A>C (n.47-2A>C)
c.212-2A>C (n.212-2A>C)
 ClinVar dbSNP
5g.88731903T=CA1562203647MEF2Cc.260-2A= (n.260-2A=)
c.638-2A= (n.638-2A=)
n.575-2A=
c.629-2A= (n.629-2A=)
c.692-2A= (n.692-2A=)
c.632-2A= (n.632-2A=)
n.56-2A=
c.494-2A= (n.494-2A=)
c.47-2A= (n.47-2A=)
c.212-2A= (n.212-2A=)
5g.88731904G=CA1562203648MEF2Cc.260-3C= (n.260-3C=)
c.638-3C= (n.638-3C=)
n.575-3C=
c.629-3C= (n.629-3C=)
c.692-3C= (n.692-3C=)
c.632-3C= (n.632-3C=)
n.56-3C=
c.494-3C= (n.494-3C=)
c.47-3C= (n.47-3C=)
c.212-3C= (n.212-3C=)
5g.88731904G>TCA122608898MEF2Cc.260-3C>A (n.260-3C>A)
c.638-3C>A (n.638-3C>A)
n.575-3C>A
c.629-3C>A (n.629-3C>A)
c.692-3C>A (n.692-3C>A)
c.632-3C>A (n.632-3C>A)
n.56-3C>A
c.494-3C>A (n.494-3C>A)
c.47-3C>A (n.47-3C>A)
c.212-3C>A (n.212-3C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.88731908_88731909insAAAAAAACA2767370251MEF2Cc.260-6_260-5insTTTTTTT (n.260-6_260-5insTTTTTTT)
c.638-6_638-5insTTTTTTT (n.638-6_638-5insTTTTTTT)
n.575-6_575-5insTTTTTTT
c.629-6_629-5insTTTTTTT (n.629-6_629-5insTTTTTTT)
c.692-6_692-5insTTTTTTT (n.692-6_692-5insTTTTTTT)
c.632-6_632-5insTTTTTTT (n.632-6_632-5insTTTTTTT)
n.56-6_56-5insTTTTTTT
c.494-6_494-5insTTTTTTT (n.494-6_494-5insTTTTTTT)
c.47-6_47-5insTTTTTTT (n.47-6_47-5insTTTTTTT)
c.212-6_212-5insTTTTTTT (n.212-6_212-5insTTTTTTT)
5g.88731908_88731909insAAAAAAAACA2674536494MEF2Cc.260-6_260-5insTTTTTTTT (n.260-6_260-5insTTTTTTTT)
c.638-6_638-5insTTTTTTTT (n.638-6_638-5insTTTTTTTT)
n.575-6_575-5insTTTTTTTT
c.629-6_629-5insTTTTTTTT (n.629-6_629-5insTTTTTTTT)
c.692-6_692-5insTTTTTTTT (n.692-6_692-5insTTTTTTTT)
c.632-6_632-5insTTTTTTTT (n.632-6_632-5insTTTTTTTT)
n.56-6_56-5insTTTTTTTT
c.494-6_494-5insTTTTTTTT (n.494-6_494-5insTTTTTTTT)
c.47-6_47-5insTTTTTTTT (n.47-6_47-5insTTTTTTTT)
c.212-6_212-5insTTTTTTTT (n.212-6_212-5insTTTTTTTT)
 gnomAD v4
5g.88731908A>GCA2556647751MEF2Cc.260-7T>C (n.260-7T>C)
c.638-7T>C (n.638-7T>C)
n.575-7T>C
c.629-7T>C (n.629-7T>C)
c.692-7T>C (n.692-7T>C)
c.632-7T>C (n.632-7T>C)
n.56-7T>C
c.494-7T>C (n.494-7T>C)
c.47-7T>C (n.47-7T>C)
c.212-7T>C (n.212-7T>C)
 ClinVar gnomAD v4
5g.88731909C>ACA2674536495MEF2Cc.260-8G>T (n.260-8G>T)
c.638-8G>T (n.638-8G>T)
n.575-8G>T
c.629-8G>T (n.629-8G>T)
c.692-8G>T (n.692-8G>T)
c.632-8G>T (n.632-8G>T)
n.56-8G>T
c.494-8G>T (n.494-8G>T)
c.47-8G>T (n.47-8G>T)
c.212-8G>T (n.212-8G>T)
 gnomAD v4
5g.88731909C=CA1562203649MEF2Cc.260-8G= (n.260-8G=)
c.638-8G= (n.638-8G=)
n.575-8G=
c.629-8G= (n.629-8G=)
c.692-8G= (n.692-8G=)
c.632-8G= (n.632-8G=)
n.56-8G=
c.494-8G= (n.494-8G=)
c.47-8G= (n.47-8G=)
c.212-8G= (n.212-8G=)
5g.88731909C>TCA815199920MEF2Cc.260-8G>A (n.260-8G>A)
c.638-8G>A (n.638-8G>A)
n.575-8G>A
c.629-8G>A (n.629-8G>A)
c.692-8G>A (n.692-8G>A)
c.632-8G>A (n.632-8G>A)
n.56-8G>A
c.494-8G>A (n.494-8G>A)
c.47-8G>A (n.47-8G>A)
c.212-8G>A (n.212-8G>A)
 dbSNP
5g.88731910A>GCA2674536496MEF2Cc.260-9T>C (n.260-9T>C)
c.638-9T>C (n.638-9T>C)
n.575-9T>C
c.629-9T>C (n.629-9T>C)
c.692-9T>C (n.692-9T>C)
c.632-9T>C (n.632-9T>C)
n.56-9T>C
c.494-9T>C (n.494-9T>C)
c.47-9T>C (n.47-9T>C)
c.212-9T>C (n.212-9T>C)
 gnomAD v4
5g.88731915dupCA3337257MEF2Cc.260-9dup (n.260-9dup)
c.638-9dup (n.638-9dup)
n.575-9dup
c.629-9dup (n.629-9dup)
c.692-9dup (n.692-9dup)
c.632-9dup (n.632-9dup)
n.56-9dup
c.494-9dup (n.494-9dup)
c.47-9dup (n.47-9dup)
c.212-9dup (n.212-9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731915delCA2580073845MEF2Cc.260-9del (n.260-9del)
c.638-9del (n.638-9del)
n.575-9del
c.629-9del (n.629-9del)
c.692-9del (n.692-9del)
c.632-9del (n.632-9del)
n.56-9del
c.494-9del (n.494-9del)
c.47-9del (n.47-9del)
c.212-9del (n.212-9del)
 ClinVar
5g.88731911A=CA1562203650MEF2Cc.260-10T= (n.260-10T=)
c.638-10T= (n.638-10T=)
n.575-10T=
c.629-10T= (n.629-10T=)
c.692-10T= (n.692-10T=)
c.632-10T= (n.632-10T=)
n.56-10T=
c.494-10T= (n.494-10T=)
c.47-10T= (n.47-10T=)
c.212-10T= (n.212-10T=)
5g.88731911A>TCA561261190MEF2Cc.260-10T>A (n.260-10T>A)
c.638-10T>A (n.638-10T>A)
n.575-10T>A
c.629-10T>A (n.629-10T>A)
c.692-10T>A (n.692-10T>A)
c.632-10T>A (n.632-10T>A)
n.56-10T>A
c.494-10T>A (n.494-10T>A)
c.47-10T>A (n.47-10T>A)
c.212-10T>A (n.212-10T>A)
 dbSNP gnomAD v2 gnomAD v4
5g.88731912A=CA1562203651MEF2Cc.260-11T= (n.260-11T=)
c.638-11T= (n.638-11T=)
n.575-11T=
c.629-11T= (n.629-11T=)
c.692-11T= (n.692-11T=)
c.632-11T= (n.632-11T=)
n.56-11T=
c.494-11T= (n.494-11T=)
c.47-11T= (n.47-11T=)
c.212-11T= (n.212-11T=)
5g.88731912A>GCA1562203652MEF2Cc.260-11T>C (n.260-11T>C)
c.638-11T>C (n.638-11T>C)
n.575-11T>C
c.629-11T>C (n.629-11T>C)
c.692-11T>C (n.692-11T>C)
c.632-11T>C (n.632-11T>C)
n.56-11T>C
c.494-11T>C (n.494-11T>C)
c.47-11T>C (n.47-11T>C)
c.212-11T>C (n.212-11T>C)
 ClinVar dbSNP gnomAD v4
5g.88731914A=CA1562203653MEF2Cc.260-13T= (n.260-13T=)
c.638-13T= (n.638-13T=)
n.575-13T=
c.629-13T= (n.629-13T=)
c.692-13T= (n.692-13T=)
c.632-13T= (n.632-13T=)
n.56-13T=
c.494-13T= (n.494-13T=)
c.47-13T= (n.47-13T=)
c.212-13T= (n.212-13T=)
5g.88731914A>CCA1078548867MEF2Cc.260-13T>G (n.260-13T>G)
c.638-13T>G (n.638-13T>G)
n.575-13T>G
c.629-13T>G (n.629-13T>G)
c.692-13T>G (n.692-13T>G)
c.632-13T>G (n.632-13T>G)
n.56-13T>G
c.494-13T>G (n.494-13T>G)
c.47-13T>G (n.47-13T>G)
c.212-13T>G (n.212-13T>G)
 dbSNP gnomAD v4
5g.88731915A=CA1562203654MEF2Cc.260-14T= (n.260-14T=)
c.638-14T= (n.638-14T=)
n.575-14T=
c.629-14T= (n.629-14T=)
c.692-14T= (n.692-14T=)
c.632-14T= (n.632-14T=)
n.56-14T=
c.494-14T= (n.494-14T=)
c.47-14T= (n.47-14T=)
c.212-14T= (n.212-14T=)
5g.88731915A>CCA3337258MEF2Cc.260-14T>G (n.260-14T>G)
c.638-14T>G (n.638-14T>G)
n.575-14T>G
c.629-14T>G (n.629-14T>G)
c.692-14T>G (n.692-14T>G)
c.632-14T>G (n.632-14T>G)
n.56-14T>G
c.494-14T>G (n.494-14T>G)
c.47-14T>G (n.47-14T>G)
c.212-14T>G (n.212-14T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.88731915A>GCA2580073847MEF2Cc.260-14T>C (n.260-14T>C)
c.638-14T>C (n.638-14T>C)
n.575-14T>C
c.629-14T>C (n.629-14T>C)
c.692-14T>C (n.692-14T>C)
c.632-14T>C (n.632-14T>C)
n.56-14T>C
c.494-14T>C (n.494-14T>C)
c.47-14T>C (n.47-14T>C)
c.212-14T>C (n.212-14T>C)
 ClinVar
5g.88731916C>TCA2578356092MEF2Cc.260-15G>A (n.260-15G>A)
c.638-15G>A (n.638-15G>A)
n.575-15G>A
c.629-15G>A (n.629-15G>A)
c.692-15G>A (n.692-15G>A)
c.632-15G>A (n.632-15G>A)
n.56-15G>A
c.494-15G>A (n.494-15G>A)
c.47-15G>A (n.47-15G>A)
c.212-15G>A (n.212-15G>A)
 ClinVar
5g.88731917A=CA1562203655MEF2Cc.260-16T= (n.260-16T=)
c.638-16T= (n.638-16T=)
n.575-16T=
c.629-16T= (n.629-16T=)
c.692-16T= (n.692-16T=)
c.632-16T= (n.632-16T=)
n.56-16T=
c.494-16T= (n.494-16T=)
c.47-16T= (n.47-16T=)
c.212-16T= (n.212-16T=)
5g.88731917A>GCA561261191MEF2Cc.260-16T>C (n.260-16T>C)
c.638-16T>C (n.638-16T>C)
n.575-16T>C
c.629-16T>C (n.629-16T>C)
c.692-16T>C (n.692-16T>C)
c.632-16T>C (n.632-16T>C)
n.56-16T>C
c.494-16T>C (n.494-16T>C)
c.47-16T>C (n.47-16T>C)
c.212-16T>C (n.212-16T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731919_88731922delCA2674536497MEF2Cc.260-19_260-16del (n.260-19_260-16del)
c.638-19_638-16del (n.638-19_638-16del)
n.575-19_575-16del
c.629-19_629-16del (n.629-19_629-16del)
c.692-19_692-16del (n.692-19_692-16del)
c.632-19_632-16del (n.632-19_632-16del)
n.56-19_56-16del
c.494-19_494-16del (n.494-19_494-16del)
c.47-19_47-16del (n.47-19_47-16del)
c.212-19_212-16del (n.212-19_212-16del)
 gnomAD v4
5g.88731918A=CA1562203656MEF2Cc.260-17T= (n.260-17T=)
c.638-17T= (n.638-17T=)
n.575-17T=
c.629-17T= (n.629-17T=)
c.692-17T= (n.692-17T=)
c.632-17T= (n.632-17T=)
n.56-17T=
c.494-17T= (n.494-17T=)
c.47-17T= (n.47-17T=)
c.212-17T= (n.212-17T=)
5g.88731918A>GCA815199936MEF2Cc.260-17T>C (n.260-17T>C)
c.638-17T>C (n.638-17T>C)
n.575-17T>C
c.629-17T>C (n.629-17T>C)
c.692-17T>C (n.692-17T>C)
c.632-17T>C (n.632-17T>C)
n.56-17T>C
c.494-17T>C (n.494-17T>C)
c.47-17T>C (n.47-17T>C)
c.212-17T>C (n.212-17T>C)
 dbSNP
5g.88731922A>GCA2578356093MEF2Cc.260-21T>C (n.260-21T>C)
c.638-21T>C (n.638-21T>C)
n.575-21T>C
c.629-21T>C (n.629-21T>C)
c.692-21T>C (n.692-21T>C)
c.632-21T>C (n.632-21T>C)
n.56-21T>C
c.494-21T>C (n.494-21T>C)
c.47-21T>C (n.47-21T>C)
c.212-21T>C (n.212-21T>C)
5g.88731923G>CCA561261192MEF2Cc.260-22C>G (n.260-22C>G)
c.638-22C>G (n.638-22C>G)
n.575-22C>G
c.629-22C>G (n.629-22C>G)
c.692-22C>G (n.692-22C>G)
c.632-22C>G (n.632-22C>G)
n.56-22C>G
c.494-22C>G (n.494-22C>G)
c.47-22C>G (n.47-22C>G)
c.212-22C>G (n.212-22C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.88731923G=CA1562203657MEF2Cc.260-22C= (n.260-22C=)
c.638-22C= (n.638-22C=)
n.575-22C=
c.629-22C= (n.629-22C=)
c.692-22C= (n.692-22C=)
c.632-22C= (n.632-22C=)
n.56-22C=
c.494-22C= (n.494-22C=)
c.47-22C= (n.47-22C=)
c.212-22C= (n.212-22C=)
5g.88731924C>ACA2674536498MEF2Cc.260-23G>T (n.260-23G>T)
c.638-23G>T (n.638-23G>T)
n.575-23G>T
c.629-23G>T (n.629-23G>T)
c.692-23G>T (n.692-23G>T)
c.632-23G>T (n.632-23G>T)
n.56-23G>T
c.494-23G>T (n.494-23G>T)
c.47-23G>T (n.47-23G>T)
c.212-23G>T (n.212-23G>T)
 gnomAD v4
5g.88731924C>TCA2674536499MEF2Cc.260-23G>A (n.260-23G>A)
c.638-23G>A (n.638-23G>A)
n.575-23G>A
c.629-23G>A (n.629-23G>A)
c.692-23G>A (n.692-23G>A)
c.632-23G>A (n.632-23G>A)
n.56-23G>A
c.494-23G>A (n.494-23G>A)
c.47-23G>A (n.47-23G>A)
c.212-23G>A (n.212-23G>A)
 gnomAD v4
5g.88731926T>CCA2674536500MEF2Cc.260-25A>G (n.260-25A>G)
c.638-25A>G (n.638-25A>G)
n.575-25A>G
c.629-25A>G (n.629-25A>G)
c.692-25A>G (n.692-25A>G)
c.632-25A>G (n.632-25A>G)
n.56-25A>G
c.494-25A>G (n.494-25A>G)
c.47-25A>G (n.47-25A>G)
c.212-25A>G (n.212-25A>G)
 gnomAD v4
5g.88731926T>GCA561261193MEF2Cc.260-25A>C (n.260-25A>C)
c.638-25A>C (n.638-25A>C)
n.575-25A>C
c.629-25A>C (n.629-25A>C)
c.692-25A>C (n.692-25A>C)
c.632-25A>C (n.632-25A>C)
n.56-25A>C
c.494-25A>C (n.494-25A>C)
c.47-25A>C (n.47-25A>C)
c.212-25A>C (n.212-25A>C)
 dbSNP gnomAD v2 gnomAD v4
5g.88731926T=CA1562203658MEF2Cc.260-25A= (n.260-25A=)
c.638-25A= (n.638-25A=)
n.575-25A=
c.629-25A= (n.629-25A=)
c.692-25A= (n.692-25A=)
c.632-25A= (n.632-25A=)
n.56-25A=
c.494-25A= (n.494-25A=)
c.47-25A= (n.47-25A=)
c.212-25A= (n.212-25A=)
5g.88731927T>ACA815199956MEF2Cc.260-26A>T (n.260-26A>T)
c.638-26A>T (n.638-26A>T)
n.575-26A>T
c.629-26A>T (n.629-26A>T)
c.692-26A>T (n.692-26A>T)
c.632-26A>T (n.632-26A>T)
n.56-26A>T
c.494-26A>T (n.494-26A>T)
c.47-26A>T (n.47-26A>T)
c.212-26A>T (n.212-26A>T)
 dbSNP gnomAD v3 gnomAD v4
5g.88731927T=CA1562203659MEF2Cc.260-26A= (n.260-26A=)
c.638-26A= (n.638-26A=)
n.575-26A=
c.629-26A= (n.629-26A=)
c.692-26A= (n.692-26A=)
c.632-26A= (n.632-26A=)
n.56-26A=
c.494-26A= (n.494-26A=)
c.47-26A= (n.47-26A=)
c.212-26A= (n.212-26A=)
5g.88731929A=CA1562203660MEF2Cc.260-28T= (n.260-28T=)
c.638-28T= (n.638-28T=)
n.575-28T=
c.629-28T= (n.629-28T=)
c.692-28T= (n.692-28T=)
c.632-28T= (n.632-28T=)
n.56-28T=
c.494-28T= (n.494-28T=)
c.47-28T= (n.47-28T=)
c.212-28T= (n.212-28T=)
5g.88731929A>GCA1562203661MEF2Cc.260-28T>C (n.260-28T>C)
c.638-28T>C (n.638-28T>C)
n.575-28T>C
c.629-28T>C (n.629-28T>C)
c.692-28T>C (n.692-28T>C)
c.632-28T>C (n.632-28T>C)
n.56-28T>C
c.494-28T>C (n.494-28T>C)
c.47-28T>C (n.47-28T>C)
c.212-28T>C (n.212-28T>C)
 dbSNP gnomAD v4
5g.88731930G=CA1562203662MEF2Cc.260-29C= (n.260-29C=)
c.638-29C= (n.638-29C=)
n.575-29C=
c.629-29C= (n.629-29C=)
c.692-29C= (n.692-29C=)
c.632-29C= (n.632-29C=)
n.56-29C=
c.494-29C= (n.494-29C=)
c.47-29C= (n.47-29C=)
c.212-29C= (n.212-29C=)
5g.88731930G>TCA1562203663MEF2Cc.260-29C>A (n.260-29C>A)
c.638-29C>A (n.638-29C>A)
n.575-29C>A
c.629-29C>A (n.629-29C>A)
c.692-29C>A (n.692-29C>A)
c.632-29C>A (n.632-29C>A)
n.56-29C>A
c.494-29C>A (n.494-29C>A)
c.47-29C>A (n.47-29C>A)
c.212-29C>A (n.212-29C>A)
 dbSNP
5g.88731931G>ACA2767370255MEF2Cc.260-30C>T (n.260-30C>T)
c.638-30C>T (n.638-30C>T)
n.575-30C>T
c.629-30C>T (n.629-30C>T)
c.692-30C>T (n.692-30C>T)
c.632-30C>T (n.632-30C>T)
n.56-30C>T
c.494-30C>T (n.494-30C>T)
c.47-30C>T (n.47-30C>T)
c.212-30C>T (n.212-30C>T)
5g.88731932A>GCA2767370256MEF2Cc.260-31T>C (n.260-31T>C)
c.638-31T>C (n.638-31T>C)
n.575-31T>C
c.629-31T>C (n.629-31T>C)
c.692-31T>C (n.692-31T>C)
c.632-31T>C (n.632-31T>C)
n.56-31T>C
c.494-31T>C (n.494-31T>C)
c.47-31T>C (n.47-31T>C)
c.212-31T>C (n.212-31T>C)
5g.88731933A=CA1562203664MEF2Cc.260-32T= (n.260-32T=)
c.638-32T= (n.638-32T=)
n.575-32T=
c.629-32T= (n.629-32T=)
c.692-32T= (n.692-32T=)
c.632-32T= (n.632-32T=)
n.56-32T=
c.494-32T= (n.494-32T=)
c.47-32T= (n.47-32T=)
c.212-32T= (n.212-32T=)
5g.88731933A>GCA3337259MEF2Cc.260-32T>C (n.260-32T>C)
c.638-32T>C (n.638-32T>C)
n.575-32T>C
c.629-32T>C (n.629-32T>C)
c.692-32T>C (n.692-32T>C)
c.632-32T>C (n.632-32T>C)
n.56-32T>C
c.494-32T>C (n.494-32T>C)
c.47-32T>C (n.47-32T>C)
c.212-32T>C (n.212-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731936A=CA1562203665MEF2Cc.260-35T= (n.260-35T=)
c.638-35T= (n.638-35T=)
n.575-35T=
c.629-35T= (n.629-35T=)
c.692-35T= (n.692-35T=)
c.632-35T= (n.632-35T=)
n.56-35T=
c.494-35T= (n.494-35T=)
c.47-35T= (n.47-35T=)
c.212-35T= (n.212-35T=)
5g.88731936A>GCA2674536501MEF2Cc.260-35T>C (n.260-35T>C)
c.638-35T>C (n.638-35T>C)
n.575-35T>C
c.629-35T>C (n.629-35T>C)
c.692-35T>C (n.692-35T>C)
c.632-35T>C (n.632-35T>C)
n.56-35T>C
c.494-35T>C (n.494-35T>C)
c.47-35T>C (n.47-35T>C)
c.212-35T>C (n.212-35T>C)
 gnomAD v4
5g.88731936A>TCA1562203666MEF2Cc.260-35T>A (n.260-35T>A)
c.638-35T>A (n.638-35T>A)
n.575-35T>A
c.629-35T>A (n.629-35T>A)
c.692-35T>A (n.692-35T>A)
c.632-35T>A (n.632-35T>A)
n.56-35T>A
c.494-35T>A (n.494-35T>A)
c.47-35T>A (n.47-35T>A)
c.212-35T>A (n.212-35T>A)
 dbSNP gnomAD v4
5g.88731938T>ACA2674536502MEF2Cc.260-37A>T (n.260-37A>T)
c.638-37A>T (n.638-37A>T)
n.575-37A>T
c.629-37A>T (n.629-37A>T)
c.692-37A>T (n.692-37A>T)
c.632-37A>T (n.632-37A>T)
n.56-37A>T
c.494-37A>T (n.494-37A>T)
c.47-37A>T (n.47-37A>T)
c.212-37A>T (n.212-37A>T)
 gnomAD v4
5g.88731939C>ACA2578356094MEF2Cc.260-38G>T (n.260-38G>T)
c.638-38G>T (n.638-38G>T)
n.575-38G>T
c.629-38G>T (n.629-38G>T)
c.692-38G>T (n.692-38G>T)
c.632-38G>T (n.632-38G>T)
n.56-38G>T
c.494-38G>T (n.494-38G>T)
c.47-38G>T (n.47-38G>T)
c.212-38G>T (n.212-38G>T)
 gnomAD v4
5g.88731939C>TCA2674536503MEF2Cc.260-38G>A (n.260-38G>A)
c.638-38G>A (n.638-38G>A)
n.575-38G>A
c.629-38G>A (n.629-38G>A)
c.692-38G>A (n.692-38G>A)
c.632-38G>A (n.632-38G>A)
n.56-38G>A
c.494-38G>A (n.494-38G>A)
c.47-38G>A (n.47-38G>A)
c.212-38G>A (n.212-38G>A)
 gnomAD v4
5g.88731941A=CA1562203667MEF2Cc.260-40T= (n.260-40T=)
c.638-40T= (n.638-40T=)
n.575-40T=
c.629-40T= (n.629-40T=)
c.692-40T= (n.692-40T=)
c.632-40T= (n.632-40T=)
n.56-40T=
c.494-40T= (n.494-40T=)
c.47-40T= (n.47-40T=)
c.212-40T= (n.212-40T=)
5g.88731941A>TCA3337260MEF2Cc.260-40T>A (n.260-40T>A)
c.638-40T>A (n.638-40T>A)
n.575-40T>A
c.629-40T>A (n.629-40T>A)
c.692-40T>A (n.692-40T>A)
c.632-40T>A (n.632-40T>A)
n.56-40T>A
c.494-40T>A (n.494-40T>A)
c.47-40T>A (n.47-40T>A)
c.212-40T>A (n.212-40T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.88731942G>TCA2674536504MEF2Cc.260-41C>A (n.260-41C>A)
c.638-41C>A (n.638-41C>A)
n.575-41C>A
c.629-41C>A (n.629-41C>A)
c.692-41C>A (n.692-41C>A)
c.632-41C>A (n.632-41C>A)
n.56-41C>A
c.494-41C>A (n.494-41C>A)
c.47-41C>A (n.47-41C>A)
c.212-41C>A (n.212-41C>A)
 gnomAD v4
5g.88731943G>TCA2674536505MEF2Cc.260-42C>A (n.260-42C>A)
c.638-42C>A (n.638-42C>A)
n.575-42C>A
c.629-42C>A (n.629-42C>A)
c.692-42C>A (n.692-42C>A)
c.632-42C>A (n.632-42C>A)
n.56-42C>A
c.494-42C>A (n.494-42C>A)
c.47-42C>A (n.47-42C>A)
c.212-42C>A (n.212-42C>A)
 gnomAD v4
5g.88731945C>ACA2674536506MEF2Cc.260-44G>T (n.260-44G>T)
c.638-44G>T (n.638-44G>T)
n.575-44G>T
c.629-44G>T (n.629-44G>T)
c.692-44G>T (n.692-44G>T)
c.632-44G>T (n.632-44G>T)
n.56-44G>T
c.494-44G>T (n.494-44G>T)
c.47-44G>T (n.47-44G>T)
c.212-44G>T (n.212-44G>T)
 gnomAD v4
5g.88731945_88731946delinsCACA1562203668MEF2Cc.260-45_260-44delinsTG (n.260-45_260-44delinsTG)
c.638-45_638-44delinsTG (n.638-45_638-44delinsTG)
n.575-45_575-44delinsTG
c.629-45_629-44delinsTG (n.629-45_629-44delinsTG)
c.692-45_692-44delinsTG (n.692-45_692-44delinsTG)
c.632-45_632-44delinsTG (n.632-45_632-44delinsTG)
n.56-45_56-44delinsTG
c.494-45_494-44delinsTG (n.494-45_494-44delinsTG)
c.47-45_47-44delinsTG (n.47-45_47-44delinsTG)
c.212-45_212-44delinsTG (n.212-45_212-44delinsTG)
5g.88731948delCA561261194MEF2Cc.260-45del (n.260-45del)
c.638-45del (n.638-45del)
n.575-45del
c.629-45del (n.629-45del)
c.692-45del (n.692-45del)
c.632-45del (n.632-45del)
n.56-45del
c.494-45del (n.494-45del)
c.47-45del (n.47-45del)
c.212-45del (n.212-45del)
 dbSNP gnomAD v2 gnomAD v4
5g.88731949delCA2578356095MEF2Cc.260-48del (n.260-48del)
c.638-48del (n.638-48del)
n.575-48del
c.629-48del (n.629-48del)
c.692-48del (n.692-48del)
c.632-48del (n.632-48del)
n.56-48del
c.494-48del (n.494-48del)
c.47-48del (n.47-48del)
c.212-48del (n.212-48del)
5g.88731950A=CA1562203669MEF2Cc.260-49T= (n.260-49T=)
c.638-49T= (n.638-49T=)
n.575-49T=
c.629-49T= (n.629-49T=)
c.692-49T= (n.692-49T=)
c.632-49T= (n.632-49T=)
n.56-49T=
c.494-49T= (n.494-49T=)
c.47-49T= (n.47-49T=)
c.212-49T= (n.212-49T=)
5g.88731950A>GCA3337261MEF2Cc.260-49T>C (n.260-49T>C)
c.638-49T>C (n.638-49T>C)
n.575-49T>C
c.629-49T>C (n.629-49T>C)
c.692-49T>C (n.692-49T>C)
c.632-49T>C (n.632-49T>C)
n.56-49T>C
c.494-49T>C (n.494-49T>C)
c.47-49T>C (n.47-49T>C)
c.212-49T>C (n.212-49T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731950A>TCA2674536507MEF2Cc.260-49T>A (n.260-49T>A)
c.638-49T>A (n.638-49T>A)
n.575-49T>A
c.629-49T>A (n.629-49T>A)
c.692-49T>A (n.692-49T>A)
c.632-49T>A (n.632-49T>A)
n.56-49T>A
c.494-49T>A (n.494-49T>A)
c.47-49T>A (n.47-49T>A)
c.212-49T>A (n.212-49T>A)
 gnomAD v4
5g.88731951C=CA1562203670MEF2Cc.260-50G= (n.260-50G=)
c.638-50G= (n.638-50G=)
n.575-50G=
c.629-50G= (n.629-50G=)
c.692-50G= (n.692-50G=)
c.632-50G= (n.632-50G=)
n.56-50G=
c.494-50G= (n.494-50G=)
c.47-50G= (n.47-50G=)
c.212-50G= (n.212-50G=)
5g.88731951C>TCA3337262MEF2Cc.260-50G>A (n.260-50G>A)
c.638-50G>A (n.638-50G>A)
n.575-50G>A
c.629-50G>A (n.629-50G>A)
c.692-50G>A (n.692-50G>A)
c.632-50G>A (n.632-50G>A)
n.56-50G>A
c.494-50G>A (n.494-50G>A)
c.47-50G>A (n.47-50G>A)
c.212-50G>A (n.212-50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731952G>ACA561261195MEF2Cc.260-51C>T (n.260-51C>T)
c.638-51C>T (n.638-51C>T)
n.575-51C>T
c.629-51C>T (n.629-51C>T)
c.692-51C>T (n.692-51C>T)
c.632-51C>T (n.632-51C>T)
n.56-51C>T
c.494-51C>T (n.494-51C>T)
c.47-51C>T (n.47-51C>T)
c.212-51C>T (n.212-51C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731952G>CCA2578356096MEF2Cc.260-51C>G (n.260-51C>G)
c.638-51C>G (n.638-51C>G)
n.575-51C>G
c.629-51C>G (n.629-51C>G)
c.692-51C>G (n.692-51C>G)
c.632-51C>G (n.632-51C>G)
n.56-51C>G
c.494-51C>G (n.494-51C>G)
c.47-51C>G (n.47-51C>G)
c.212-51C>G (n.212-51C>G)
5g.88731952G=CA1562203671MEF2Cc.260-51C= (n.260-51C=)
c.638-51C= (n.638-51C=)
n.575-51C=
c.629-51C= (n.629-51C=)
c.692-51C= (n.692-51C=)
c.632-51C= (n.632-51C=)
n.56-51C=
c.494-51C= (n.494-51C=)
c.47-51C= (n.47-51C=)
c.212-51C= (n.212-51C=)
5g.88731952G>TCA2674536509MEF2Cc.260-51C>A (n.260-51C>A)
c.638-51C>A (n.638-51C>A)
n.575-51C>A
c.629-51C>A (n.629-51C>A)
c.692-51C>A (n.692-51C>A)
c.632-51C>A (n.632-51C>A)
n.56-51C>A
c.494-51C>A (n.494-51C>A)
c.47-51C>A (n.47-51C>A)
c.212-51C>A (n.212-51C>A)
 gnomAD v4
5g.88731953_88731976delCA2674536508MEF2Cc.260-74_260-51del (n.260-74_260-51del)
c.638-74_638-51del (n.638-74_638-51del)
n.575-74_575-51del
c.629-74_629-51del (n.629-74_629-51del)
c.692-74_692-51del (n.692-74_692-51del)
c.632-74_632-51del (n.632-74_632-51del)
n.56-74_56-51del
c.494-74_494-51del (n.494-74_494-51del)
c.47-74_47-51del (n.47-74_47-51del)
c.212-74_212-51del (n.212-74_212-51del)
 gnomAD v4
5g.88731953T>CCA122608899MEF2Cc.260-52A>G (n.260-52A>G)
c.638-52A>G (n.638-52A>G)
n.575-52A>G
c.629-52A>G (n.629-52A>G)
c.692-52A>G (n.692-52A>G)
c.632-52A>G (n.632-52A>G)
n.56-52A>G
c.494-52A>G (n.494-52A>G)
c.47-52A>G (n.47-52A>G)
c.212-52A>G (n.212-52A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.88731953T=CA1562203672MEF2Cc.260-52A= (n.260-52A=)
c.638-52A= (n.638-52A=)
n.575-52A=
c.629-52A= (n.629-52A=)
c.692-52A= (n.692-52A=)
c.632-52A= (n.632-52A=)
n.56-52A=
c.494-52A= (n.494-52A=)
c.47-52A= (n.47-52A=)
c.212-52A= (n.212-52A=)
5g.88731955T>CCA2674536510MEF2Cc.260-54A>G (n.260-54A>G)
c.638-54A>G (n.638-54A>G)
n.575-54A>G
c.629-54A>G (n.629-54A>G)
c.692-54A>G (n.692-54A>G)
c.632-54A>G (n.632-54A>G)
n.56-54A>G
c.494-54A>G (n.494-54A>G)
c.47-54A>G (n.47-54A>G)
c.212-54A>G (n.212-54A>G)
 gnomAD v4
5g.88731956C>GCA2674536511MEF2Cc.260-55G>C (n.260-55G>C)
c.638-55G>C (n.638-55G>C)
n.575-55G>C
c.629-55G>C (n.629-55G>C)
c.692-55G>C (n.692-55G>C)
c.632-55G>C (n.632-55G>C)
n.56-55G>C
c.494-55G>C (n.494-55G>C)
c.47-55G>C (n.47-55G>C)
c.212-55G>C (n.212-55G>C)
 gnomAD v4

Number of alleles fetched