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.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=)

Number of alleles fetched