Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.88731856G>A | CA360423435 | MEF2C | c.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) | |
5 | g.88731856G>C | CA120008 | MEF2C | c.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 |
5 | g.88731856G= | CA1562203635 | MEF2C | c.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=) | |
5 | g.88731856G>T | CA360423436 | MEF2C | c.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) | |
5 | g.88731857A>C | CA360423437 | MEF2C | c.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) | |
5 | g.88731857A>G | CA360423438 | MEF2C | c.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) | |
5 | g.88731857A>T | CA360423439 | MEF2C | c.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) | |
5 | g.88731858G>A | CA445370061 | MEF2C | c.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 |
5 | g.88731858G>C | CA445370063 | MEF2C | c.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=) | |
5 | g.88731858G= | CA1562203636 | MEF2C | c.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=) | |
5 | g.88731858G>T | CA445370065 | MEF2C | c.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=) | |
5 | g.88731859A>C | CA360423440 | MEF2C | c.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) | |
5 | g.88731859A>G | CA360423441 | MEF2C | c.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 |
5 | g.88731859A>T | CA360423442 | MEF2C | c.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) | |
5 | g.88731860C>A | CA360423443 | MEF2C | c.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 |
5 | g.88731860C= | CA1562203637 | MEF2C | c.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=) | |
5 | g.88731860C>G | CA360423444 | MEF2C | c.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) | |
5 | g.88731860C>T | CA360423445 | MEF2C | c.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 |
5 | g.88731860_88731861dup | CA2695204699 | MEF2C | c.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) | |
5 | g.88731861C>A | CA445370070 | MEF2C | c.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=) | |
5 | g.88731861C= | CA1562203638 | MEF2C | c.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=) | |
5 | g.88731861C>G | CA445370071 | MEF2C | c.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=) | |
5 | g.88731861C>T | CA445370073 | MEF2C | c.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 |
5 | g.88731862A>C | CA360423446 | MEF2C | c.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) | |
5 | g.88731862A>G | CA360423448 | MEF2C | c.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) | |
5 | g.88731862A>T | CA360423447 | MEF2C | c.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) | |
5 | g.88731863G>A | CA445370077 | MEF2C | c.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 |
5 | g.88731863G>C | CA360423449 | MEF2C | c.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) | |
5 | g.88731863G>T | CA360423450 | MEF2C | c.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) | |
5 | g.88731864C>A | CA445370079 | MEF2C | c.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=) | |
5 | g.88731864C>G | CA445370081 | MEF2C | c.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=) | |
5 | g.88731864C>T | CA445370083 | MEF2C | c.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=) | |
5 | g.88731865A>C | CA360423451 | MEF2C | c.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) | |
5 | g.88731865A>G | CA360423452 | MEF2C | c.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 |
5 | g.88731865A>T | CA360423453 | MEF2C | c.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) | |
5 | g.88731866G>A | CA445370087 | MEF2C | c.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=) | |
5 | g.88731866G>C | CA360423454 | MEF2C | c.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) | |
5 | g.88731866G>T | CA360423455 | MEF2C | c.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) | |
5 | g.88731867A>C | CA445370094 | MEF2C | c.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=) | |
5 | g.88731867A>G | CA445370092 | MEF2C | c.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=) | |
5 | g.88731867A>T | CA445370091 | MEF2C | c.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=) | |
5 | g.88731868C>A | CA360423456 | MEF2C | c.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 |
5 | g.88731868C>G | CA360423457 | MEF2C | c.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) | |
5 | g.88731868C>T | CA360423458 | MEF2C | c.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) | |
5 | g.88731869C>A | CA360423459 | MEF2C | c.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) | |
5 | g.88731869C>G | CA360423460 | MEF2C | c.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) | |
5 | g.88731869C>T | CA360423461 | MEF2C | c.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) | |
5 | g.88731870T>A | CA445370100 | MEF2C | c.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=) | |
5 | g.88731870T>C | CA445370101 | MEF2C | c.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=) | |
5 | g.88731870T>G | CA445370103 | MEF2C | c.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=) |