Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.6495649_6495666dup | CA2587859453 | TUBB4A | c.833_850dup (p.Ala283_Leu284insArgGlnGlnTyrArgAla) c.986_1003dup (p.Ala334_Leu335insArgGlnGlnTyrArgAla) c.968_985dup (p.Ala328_Leu329insArgGlnGlnTyrArgAla) c.617_634dup (p.Ala211_Leu212insArgGlnGlnTyrArgAla) | gnomAD v4 |
19 | g.6495654C>A | CA403590820 | TUBB4A | c.845G>T (p.Arg282Leu) c.998G>T (p.Arg333Leu) c.980G>T (p.Arg327Leu) c.629G>T (p.Arg210Leu) | |
19 | g.6495654C= | CA2320458599 | TUBB4A | c.845G= (p.Arg282=) c.998G= (p.Arg333=) c.980G= (p.Arg327=) c.629G= (p.Arg210=) | |
19 | g.6495654C>G | CA10602630 | TUBB4A | c.845G>C (p.Arg282Pro) c.998G>C (p.Arg333Pro) c.980G>C (p.Arg327Pro) c.629G>C (p.Arg210Pro) | ClinVar dbSNP |
19 | g.6495654C>T | CA9127316 | TUBB4A | c.845G>A (p.Arg282Gln) c.998G>A (p.Arg333Gln) c.980G>A (p.Arg327Gln) c.629G>A (p.Arg210Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6495655G>A | CA403590823 | TUBB4A | c.844C>T (p.Arg282Trp) c.997C>T (p.Arg333Trp) c.979C>T (p.Arg327Trp) c.628C>T (p.Arg210Trp) | gnomAD v4 |
19 | g.6495655G>C | CA403590825 | TUBB4A | c.844C>G (p.Arg282Gly) c.997C>G (p.Arg333Gly) c.979C>G (p.Arg327Gly) c.628C>G (p.Arg210Gly) | |
19 | g.6495655G>T | CA505189704 | TUBB4A | c.844C>A (p.Arg282=) c.997C>A (p.Arg333=) c.979C>A (p.Arg327=) c.628C>A (p.Arg210=) | |
19 | g.6495656G>A | CA505189705 | TUBB4A | c.843C>T (p.Tyr281=) c.996C>T (p.Tyr332=) c.978C>T (p.Tyr326=) c.627C>T (p.Tyr209=) | |
19 | g.6495656G>C | CA403590827 | TUBB4A | c.843C>G (p.Tyr281Ter) c.996C>G (p.Tyr332Ter) c.978C>G (p.Tyr326Ter) c.627C>G (p.Tyr209Ter) | |
19 | g.6495656G>T | CA403590828 | TUBB4A | c.843C>A (p.Tyr281Ter) c.996C>A (p.Tyr332Ter) c.978C>A (p.Tyr326Ter) c.627C>A (p.Tyr209Ter) | COSMIC |
19 | g.6495657T>A | CA403590832 | TUBB4A | c.842A>T (p.Tyr281Phe) c.995A>T (p.Tyr332Phe) c.977A>T (p.Tyr326Phe) c.626A>T (p.Tyr209Phe) | |
19 | g.6495657T>C | CA403590831 | TUBB4A | c.842A>G (p.Tyr281Cys) c.995A>G (p.Tyr332Cys) c.977A>G (p.Tyr326Cys) c.626A>G (p.Tyr209Cys) | |
19 | g.6495657T>G | CA403590830 | TUBB4A | c.842A>C (p.Tyr281Ser) c.995A>C (p.Tyr332Ser) c.977A>C (p.Tyr326Ser) c.626A>C (p.Tyr209Ser) | |
19 | g.6495658A>C | CA403590835 | TUBB4A | c.841T>G (p.Tyr281Asp) c.994T>G (p.Tyr332Asp) c.976T>G (p.Tyr326Asp) c.625T>G (p.Tyr209Asp) | |
19 | g.6495658A>G | CA403590837 | TUBB4A | c.841T>C (p.Tyr281His) c.994T>C (p.Tyr332His) c.976T>C (p.Tyr326His) c.625T>C (p.Tyr209His) | |
19 | g.6495658A>T | CA403590836 | TUBB4A | c.841T>A (p.Tyr281Asn) c.994T>A (p.Tyr332Asn) c.976T>A (p.Tyr326Asn) c.625T>A (p.Tyr209Asn) | |
19 | g.6495659C>A | CA403590838 | TUBB4A | c.840G>T (p.Gln280His) c.993G>T (p.Gln331His) c.975G>T (p.Gln325His) c.624G>T (p.Gln208His) | |
19 | g.6495659C>G | CA403590839 | TUBB4A | c.840G>C (p.Gln280His) c.993G>C (p.Gln331His) c.975G>C (p.Gln325His) c.624G>C (p.Gln208His) | gnomAD v4 |
19 | g.6495659C>T | CA505189709 | TUBB4A | c.840G>A (p.Gln280=) c.993G>A (p.Gln331=) c.975G>A (p.Gln325=) c.624G>A (p.Gln208=) | |
19 | g.6495660T>A | CA403590840 | TUBB4A | c.839A>T (p.Gln280Leu) c.992A>T (p.Gln331Leu) c.974A>T (p.Gln325Leu) c.623A>T (p.Gln208Leu) | |
19 | g.6495660T>C | CA403590841 | TUBB4A | c.839A>G (p.Gln280Arg) c.992A>G (p.Gln331Arg) c.974A>G (p.Gln325Arg) c.623A>G (p.Gln208Arg) | |
19 | g.6495660T>G | CA403590843 | TUBB4A | c.839A>C (p.Gln280Pro) c.992A>C (p.Gln331Pro) c.974A>C (p.Gln325Pro) c.623A>C (p.Gln208Pro) | |
19 | g.6495661G>A | CA403590845 | TUBB4A | c.838C>T (p.Gln280Ter) c.991C>T (p.Gln331Ter) c.973C>T (p.Gln325Ter) c.622C>T (p.Gln208Ter) | |
19 | g.6495661G>C | CA403590847 | TUBB4A | c.838C>G (p.Gln280Glu) c.991C>G (p.Gln331Glu) c.973C>G (p.Gln325Glu) c.622C>G (p.Gln208Glu) | |
19 | g.6495661G>T | CA403590848 | TUBB4A | c.838C>A (p.Gln280Lys) c.991C>A (p.Gln331Lys) c.973C>A (p.Gln325Lys) c.622C>A (p.Gln208Lys) | |
19 | g.6495662C>A | CA403590849 | TUBB4A | c.837G>T (p.Gln279His) c.990G>T (p.Gln330His) c.972G>T (p.Gln324His) c.621G>T (p.Gln207His) | |
19 | g.6495662C= | CA2320458602 | TUBB4A | c.837G= (p.Gln279=) c.990G= (p.Gln330=) c.972G= (p.Gln324=) c.621G= (p.Gln207=) | |
19 | g.6495662C>G | CA403590851 | TUBB4A | c.837G>C (p.Gln279His) c.990G>C (p.Gln330His) c.972G>C (p.Gln324His) c.621G>C (p.Gln207His) | |
19 | g.6495662C>T | CA505189711 | TUBB4A | c.837G>A (p.Gln279=) c.990G>A (p.Gln330=) c.972G>A (p.Gln324=) c.621G>A (p.Gln207=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.6495663T>A | CA403590853 | TUBB4A | c.836A>T (p.Gln279Leu) c.989A>T (p.Gln330Leu) c.971A>T (p.Gln324Leu) c.620A>T (p.Gln207Leu) | |
19 | g.6495663T>C | CA403590854 | TUBB4A | c.836A>G (p.Gln279Arg) c.989A>G (p.Gln330Arg) c.971A>G (p.Gln324Arg) c.620A>G (p.Gln207Arg) | gnomAD v4 |
19 | g.6495663T>G | CA403590856 | TUBB4A | c.836A>C (p.Gln279Pro) c.989A>C (p.Gln330Pro) c.971A>C (p.Gln324Pro) c.620A>C (p.Gln207Pro) | |
19 | g.6495663_6495664insAGA | CA2813439726 | TUBB4A | c.835_836insTCT (p.Gln279LeufsTer2) c.988_989insTCT (p.Gln330LeufsTer2) c.970_971insTCT (p.Gln324LeufsTer2) c.619_620insTCT (p.Gln207LeufsTer2) | |
19 | g.6495664G>A | CA403590860 | TUBB4A | c.835C>T (p.Gln279Ter) c.988C>T (p.Gln330Ter) c.970C>T (p.Gln324Ter) c.619C>T (p.Gln207Ter) | |
19 | g.6495664G>C | CA403590857 | TUBB4A | c.835C>G (p.Gln279Glu) c.988C>G (p.Gln330Glu) c.970C>G (p.Gln324Glu) c.619C>G (p.Gln207Glu) | |
19 | g.6495664G>T | CA403590859 | TUBB4A | c.835C>A (p.Gln279Lys) c.988C>A (p.Gln330Lys) c.970C>A (p.Gln324Lys) c.619C>A (p.Gln207Lys) | |
19 | g.6495665G>A | CA505189712 | TUBB4A | c.834C>T (p.Ser278=) c.987C>T (p.Ser329=) c.969C>T (p.Ser323=) c.618C>T (p.Ser206=) | |
19 | g.6495665G>C | CA403590861 | TUBB4A | c.834C>G (p.Ser278Arg) c.987C>G (p.Ser329Arg) c.969C>G (p.Ser323Arg) c.618C>G (p.Ser206Arg) | |
19 | g.6495665G>T | CA403590862 | TUBB4A | c.834C>A (p.Ser278Arg) c.987C>A (p.Ser329Arg) c.969C>A (p.Ser323Arg) c.618C>A (p.Ser206Arg) | ClinVar dbSNP |
19 | g.6495666C>A | CA403590864 | TUBB4A | c.833G>T (p.Ser278Ile) c.986G>T (p.Ser329Ile) c.968G>T (p.Ser323Ile) c.617G>T (p.Ser206Ile) | |
19 | g.6495666C>G | CA403590866 | TUBB4A | c.833G>C (p.Ser278Thr) c.986G>C (p.Ser329Thr) c.968G>C (p.Ser323Thr) c.617G>C (p.Ser206Thr) | |
19 | g.6495666C>T | CA403590867 | TUBB4A | c.833G>A (p.Ser278Asn) c.986G>A (p.Ser329Asn) c.968G>A (p.Ser323Asn) c.617G>A (p.Ser206Asn) | |
19 | g.6495667T>A | CA403590868 | TUBB4A | c.832A>T (p.Ser278Cys) c.985A>T (p.Ser329Cys) c.967A>T (p.Ser323Cys) c.616A>T (p.Ser206Cys) | |
19 | g.6495667T>C | CA403590869 | TUBB4A | c.832A>G (p.Ser278Gly) c.985A>G (p.Ser329Gly) c.967A>G (p.Ser323Gly) c.616A>G (p.Ser206Gly) | |
19 | g.6495667T>G | CA403590871 | TUBB4A | c.832A>C (p.Ser278Arg) c.985A>C (p.Ser329Arg) c.967A>C (p.Ser323Arg) c.616A>C (p.Ser206Arg) | |
19 | g.6495667T= | CA2320458604 | TUBB4A | c.832A= (p.Ser278=) c.985A= (p.Ser329=) c.967A= (p.Ser323=) c.616A= (p.Ser206=) | |
19 | g.6495668G>A | CA505189716 | TUBB4A | c.831C>T (p.Gly277=) c.984C>T (p.Gly328=) c.966C>T (p.Gly322=) c.615C>T (p.Gly205=) | |
19 | g.6495668G>C | CA304775629 | TUBB4A | c.831C>G (p.Gly277=) c.984C>G (p.Gly328=) c.966C>G (p.Gly322=) c.615C>G (p.Gly205=) | dbSNP |
19 | g.6495668G= | CA2320458606 | TUBB4A | c.831C= (p.Gly277=) c.984C= (p.Gly328=) c.966C= (p.Gly322=) c.615C= (p.Gly205=) | |
19 | g.6495668G>T | CA505189714 | TUBB4A | c.831C>A (p.Gly277=) c.984C>A (p.Gly328=) c.966C>A (p.Gly322=) c.615C>A (p.Gly205=) | |
19 | g.6495668dup | CA920047818 | TUBB4A | c.831dup (p.Ser278GlnfsTer?) c.984dup (p.Ser329GlnfsTer?) c.966dup (p.Ser323GlnfsTer?) c.615dup (p.Ser206GlnfsTer?) | dbSNP |
19 | g.6495669C>A | CA403590873 | TUBB4A | c.830G>T (p.Gly277Val) c.983G>T (p.Gly328Val) c.965G>T (p.Gly322Val) c.614G>T (p.Gly205Val) | |
19 | g.6495669C= | CA2320458609 | TUBB4A | c.830G= (p.Gly277=) c.983G= (p.Gly328=) c.965G= (p.Gly322=) c.614G= (p.Gly205=) | |
19 | g.6495669C>G | CA9127317 | TUBB4A | c.830G>C (p.Gly277Ala) c.983G>C (p.Gly328Ala) c.965G>C (p.Gly322Ala) c.614G>C (p.Gly205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6495669C>T | CA403590875 | TUBB4A | c.830G>A (p.Gly277Asp) c.983G>A (p.Gly328Asp) c.965G>A (p.Gly322Asp) c.614G>A (p.Gly205Asp) | |
19 | g.6495672dup | CA505189717 | TUBB4A | c.830dup (p.Ser278GlnfsTer?) c.983dup (p.Ser329GlnfsTer?) c.965dup (p.Ser323GlnfsTer?) c.614dup (p.Ser206GlnfsTer?) | |
19 | g.6495670C>A | CA403590879 | TUBB4A | c.829G>T (p.Gly277Cys) c.982G>T (p.Gly328Cys) c.964G>T (p.Gly322Cys) c.613G>T (p.Gly205Cys) | |
19 | g.6495670C= | CA2320458611 | TUBB4A | c.829G= (p.Gly277=) c.982G= (p.Gly328=) c.964G= (p.Gly322=) c.613G= (p.Gly205=) | |
19 | g.6495670C>G | CA403590880 | TUBB4A | c.829G>C (p.Gly277Arg) c.982G>C (p.Gly328Arg) c.964G>C (p.Gly322Arg) c.613G>C (p.Gly205Arg) | |
19 | g.6495670C>T | CA403590877 | TUBB4A | c.829G>A (p.Gly277Ser) c.982G>A (p.Gly328Ser) c.964G>A (p.Gly322Ser) c.613G>A (p.Gly205Ser) | dbSNP |
19 | g.6495671C>A | CA505189720 | TUBB4A | c.828G>T (p.Arg276=) c.981G>T (p.Arg327=) c.963G>T (p.Arg321=) c.612G>T (p.Arg204=) | |
19 | g.6495671C>G | CA505189722 | TUBB4A | c.828G>C (p.Arg276=) c.981G>C (p.Arg327=) c.963G>C (p.Arg321=) c.612G>C (p.Arg204=) | |
19 | g.6495671C>T | CA505189723 | TUBB4A | c.828G>A (p.Arg276=) c.981G>A (p.Arg327=) c.963G>A (p.Arg321=) c.612G>A (p.Arg204=) | gnomAD v4 COSMIC |
19 | g.6495672C>A | CA403590881 | TUBB4A | c.827G>T (p.Arg276Leu) c.980G>T (p.Arg327Leu) c.962G>T (p.Arg321Leu) c.611G>T (p.Arg204Leu) | |
19 | g.6495672C= | CA2320458613 | TUBB4A | c.827G= (p.Arg276=) c.980G= (p.Arg327=) c.962G= (p.Arg321=) c.611G= (p.Arg204=) | |
19 | g.6495672C>G | CA403590882 | TUBB4A | c.827G>C (p.Arg276Pro) c.980G>C (p.Arg327Pro) c.962G>C (p.Arg321Pro) c.611G>C (p.Arg204Pro) | dbSNP |
19 | g.6495672C>T | CA9127318 | TUBB4A | c.827G>A (p.Arg276Gln) c.980G>A (p.Arg327Gln) c.962G>A (p.Arg321Gln) c.611G>A (p.Arg204Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.6495673G>A | CA403590885 | TUBB4A | c.826C>T (p.Arg276Trp) c.979C>T (p.Arg327Trp) c.961C>T (p.Arg321Trp) c.610C>T (p.Arg204Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495673G>C | CA403590886 | TUBB4A | c.826C>G (p.Arg276Gly) c.979C>G (p.Arg327Gly) c.961C>G (p.Arg321Gly) c.610C>G (p.Arg204Gly) | |
19 | g.6495673G= | CA2320458616 | TUBB4A | c.826C= (p.Arg276=) c.979C= (p.Arg327=) c.961C= (p.Arg321=) c.610C= (p.Arg204=) | |
19 | g.6495673G>T | CA505189727 | TUBB4A | c.826C>A (p.Arg276=) c.979C>A (p.Arg327=) c.961C>A (p.Arg321=) c.610C>A (p.Arg204=) | gnomAD v4 |
19 | g.6495674G>A | CA505189729 | TUBB4A | c.825C>T (p.Ser275=) c.978C>T (p.Ser326=) c.960C>T (p.Ser320=) c.609C>T (p.Ser203=) | |
19 | g.6495674G>C | CA403590888 | TUBB4A | c.825C>G (p.Ser275Arg) c.978C>G (p.Ser326Arg) c.960C>G (p.Ser320Arg) c.609C>G (p.Ser203Arg) | dbSNP |
19 | g.6495674G= | CA2320458618 | TUBB4A | c.825C= (p.Ser275=) c.978C= (p.Ser326=) c.960C= (p.Ser320=) c.609C= (p.Ser203=) | |
19 | g.6495674G>T | CA403590889 | TUBB4A | c.825C>A (p.Ser275Arg) c.978C>A (p.Ser326Arg) c.960C>A (p.Ser320Arg) c.609C>A (p.Ser203Arg) | |
19 | g.6495675C>A | CA403590891 | TUBB4A | c.824G>T (p.Ser275Ile) c.977G>T (p.Ser326Ile) c.959G>T (p.Ser320Ile) c.608G>T (p.Ser203Ile) | |
19 | g.6495675C>G | CA403590893 | TUBB4A | c.824G>C (p.Ser275Thr) c.977G>C (p.Ser326Thr) c.959G>C (p.Ser320Thr) c.608G>C (p.Ser203Thr) | |
19 | g.6495675C>T | CA403590894 | TUBB4A | c.824G>A (p.Ser275Asn) c.977G>A (p.Ser326Asn) c.959G>A (p.Ser320Asn) c.608G>A (p.Ser203Asn) | |
19 | g.6495676T>A | CA403590896 | TUBB4A | c.823A>T (p.Ser275Cys) c.976A>T (p.Ser326Cys) c.958A>T (p.Ser320Cys) c.607A>T (p.Ser203Cys) | |
19 | g.6495676T>C | CA403590899 | TUBB4A | c.823A>G (p.Ser275Gly) c.976A>G (p.Ser326Gly) c.958A>G (p.Ser320Gly) c.607A>G (p.Ser203Gly) | |
19 | g.6495676T>G | CA403590902 | TUBB4A | c.823A>C (p.Ser275Arg) c.976A>C (p.Ser326Arg) c.958A>C (p.Ser320Arg) c.607A>C (p.Ser203Arg) | dbSNP |
19 | g.6495676T= | CA2320458620 | TUBB4A | c.823A= (p.Ser275=) c.976A= (p.Ser326=) c.958A= (p.Ser320=) c.607A= (p.Ser203=) | |
19 | g.6495677G>A | CA505189732 | TUBB4A | c.822C>T (p.Thr274=) c.975C>T (p.Thr325=) c.957C>T (p.Thr319=) c.606C>T (p.Thr202=) | |
19 | g.6495677G>C | CA505189733 | TUBB4A | c.822C>G (p.Thr274=) c.975C>G (p.Thr325=) c.957C>G (p.Thr319=) c.606C>G (p.Thr202=) | gnomAD v4 |
19 | g.6495677G>T | CA505189736 | TUBB4A | c.822C>A (p.Thr274=) c.975C>A (p.Thr325=) c.957C>A (p.Thr319=) c.606C>A (p.Thr202=) | |
19 | g.6495680_6495686dup | CA2320458622 | TUBB4A | c.816_822dup (p.Ser275ProfsTer?) c.969_975dup (p.Ser326ProfsTer?) c.951_957dup (p.Ser320ProfsTer?) c.600_606dup (p.Ser203ProfsTer?) | dbSNP |
19 | g.6495678G>A | CA403590907 | TUBB4A | c.821C>T (p.Thr274Ile) c.974C>T (p.Thr325Ile) c.956C>T (p.Thr319Ile) c.605C>T (p.Thr202Ile) | |
19 | g.6495678G>C | CA403590905 | TUBB4A | c.821C>G (p.Thr274Ser) c.974C>G (p.Thr325Ser) c.956C>G (p.Thr319Ser) c.605C>G (p.Thr202Ser) | |
19 | g.6495678G>T | CA403590904 | TUBB4A | c.821C>A (p.Thr274Asn) c.974C>A (p.Thr325Asn) c.956C>A (p.Thr319Asn) c.605C>A (p.Thr202Asn) | |
19 | g.6495679T>A | CA403590909 | TUBB4A | c.820A>T (p.Thr274Ser) c.973A>T (p.Thr325Ser) c.955A>T (p.Thr319Ser) c.604A>T (p.Thr202Ser) | COSMIC |
19 | g.6495679T>C | CA403590911 | TUBB4A | c.820A>G (p.Thr274Ala) c.973A>G (p.Thr325Ala) c.955A>G (p.Thr319Ala) c.604A>G (p.Thr202Ala) | gnomAD v4 |
19 | g.6495679T>G | CA403590912 | TUBB4A | c.820A>C (p.Thr274Pro) c.973A>C (p.Thr325Pro) c.955A>C (p.Thr319Pro) c.604A>C (p.Thr202Pro) | dbSNP |
19 | g.6495679T= | CA2320458624 | TUBB4A | c.820A= (p.Thr274=) c.973A= (p.Thr325=) c.955A= (p.Thr319=) c.604A= (p.Thr202=) | |
19 | g.6495680C>A | CA505189742 | TUBB4A | c.819G>T (p.Leu273=) c.972G>T (p.Leu324=) c.954G>T (p.Leu318=) c.603G>T (p.Leu201=) | COSMIC |
19 | g.6495680C>G | CA505189744 | TUBB4A | c.819G>C (p.Leu273=) c.972G>C (p.Leu324=) c.954G>C (p.Leu318=) c.603G>C (p.Leu201=) | |
19 | g.6495680C>T | CA505189745 | TUBB4A | c.819G>A (p.Leu273=) c.972G>A (p.Leu324=) c.954G>A (p.Leu318=) c.603G>A (p.Leu201=) | |
19 | g.6495681A= | CA2320458626 | TUBB4A | c.818T= (p.Leu273=) c.971T= (p.Leu324=) c.953T= (p.Leu318=) c.602T= (p.Leu201=) | |
19 | g.6495681A>C | CA403590914 | TUBB4A | c.818T>G (p.Leu273Arg) c.971T>G (p.Leu324Arg) c.953T>G (p.Leu318Arg) c.602T>G (p.Leu201Arg) | |
19 | g.6495681A>G | CA403590915 | TUBB4A | c.818T>C (p.Leu273Pro) c.971T>C (p.Leu324Pro) c.953T>C (p.Leu318Pro) c.602T>C (p.Leu201Pro) | dbSNP |
19 | g.6495681A>T | CA403590917 | TUBB4A | c.818T>A (p.Leu273Gln) c.971T>A (p.Leu324Gln) c.953T>A (p.Leu318Gln) c.602T>A (p.Leu201Gln) | |
19 | g.6495682G>A | CA505189746 | TUBB4A | c.817C>T (p.Leu273=) c.970C>T (p.Leu324=) c.952C>T (p.Leu318=) c.601C>T (p.Leu201=) | dbSNP |
19 | g.6495682G>C | CA403590918 | TUBB4A | c.817C>G (p.Leu273Val) c.970C>G (p.Leu324Val) c.952C>G (p.Leu318Val) c.601C>G (p.Leu201Val) | |
19 | g.6495682G= | CA2320458628 | TUBB4A | c.817C= (p.Leu273=) c.970C= (p.Leu324=) c.952C= (p.Leu318=) c.601C= (p.Leu201=) | |
19 | g.6495682G>T | CA403590920 | TUBB4A | c.817C>A (p.Leu273Met) c.970C>A (p.Leu324Met) c.952C>A (p.Leu318Met) c.601C>A (p.Leu201Met) | |
19 | g.6495683G>A | CA505189751 | TUBB4A | c.816C>T (p.Pro272=) c.969C>T (p.Pro323=) c.951C>T (p.Pro317=) c.600C>T (p.Pro200=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6495683G>C | CA505189752 | TUBB4A | c.816C>G (p.Pro272=) c.969C>G (p.Pro323=) c.951C>G (p.Pro317=) c.600C>G (p.Pro200=) | |
19 | g.6495683G= | CA2320458631 | TUBB4A | c.816C= (p.Pro272=) c.969C= (p.Pro323=) c.951C= (p.Pro317=) c.600C= (p.Pro200=) | |
19 | g.6495683G>T | CA9127319 | TUBB4A | c.816C>A (p.Pro272=) c.969C>A (p.Pro323=) c.951C>A (p.Pro317=) c.600C>A (p.Pro200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495684G>A | CA403590923 | TUBB4A | c.815C>T (p.Pro272Leu) c.968C>T (p.Pro323Leu) c.950C>T (p.Pro317Leu) c.599C>T (p.Pro200Leu) | |
19 | g.6495684G>C | CA403590925 | TUBB4A | c.815C>G (p.Pro272Arg) c.968C>G (p.Pro323Arg) c.950C>G (p.Pro317Arg) c.599C>G (p.Pro200Arg) | |
19 | g.6495684G>T | CA403590926 | TUBB4A | c.815C>A (p.Pro272His) c.968C>A (p.Pro323His) c.950C>A (p.Pro317His) c.599C>A (p.Pro200His) | |
19 | g.6495685G>A | CA403590929 | TUBB4A | c.814C>T (p.Pro272Ser) c.967C>T (p.Pro323Ser) c.949C>T (p.Pro317Ser) c.598C>T (p.Pro200Ser) | |
19 | g.6495685G>C | CA403590928 | TUBB4A | c.814C>G (p.Pro272Ala) c.967C>G (p.Pro323Ala) c.949C>G (p.Pro317Ala) c.598C>G (p.Pro200Ala) | |
19 | g.6495685G>T | CA403590927 | TUBB4A | c.814C>A (p.Pro272Thr) c.967C>A (p.Pro323Thr) c.949C>A (p.Pro317Thr) c.598C>A (p.Pro200Thr) | |
19 | g.6495686T>A | CA505189757 | TUBB4A | c.813A>T (p.Ala271=) c.966A>T (p.Ala322=) c.948A>T (p.Ala316=) c.597A>T (p.Ala199=) | |
19 | g.6495686T>C | CA9127320 | TUBB4A | c.813A>G (p.Ala271=) c.966A>G (p.Ala322=) c.948A>G (p.Ala316=) c.597A>G (p.Ala199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6495686T>G | CA304775655 | TUBB4A | c.813A>C (p.Ala271=) c.966A>C (p.Ala322=) c.948A>C (p.Ala316=) c.597A>C (p.Ala199=) | dbSNP gnomAD v4 |
19 | g.6495686T= | CA2320458636 | TUBB4A | c.813A= (p.Ala271=) c.966A= (p.Ala322=) c.948A= (p.Ala316=) c.597A= (p.Ala199=) | |
19 | g.6495687G>A | CA403590930 | TUBB4A | c.812C>T (p.Ala271Val) c.965C>T (p.Ala322Val) c.947C>T (p.Ala316Val) c.596C>T (p.Ala199Val) | |
19 | g.6495687G>C | CA403590932 | TUBB4A | c.812C>G (p.Ala271Gly) c.965C>G (p.Ala322Gly) c.947C>G (p.Ala316Gly) c.596C>G (p.Ala199Gly) | |
19 | g.6495687G>T | CA403590934 | TUBB4A | c.812C>A (p.Ala271Glu) c.965C>A (p.Ala322Glu) c.947C>A (p.Ala316Glu) c.596C>A (p.Ala199Glu) | |
19 | g.6495688C>A | CA403590935 | TUBB4A | c.811G>T (p.Ala271Ser) c.964G>T (p.Ala322Ser) c.946G>T (p.Ala316Ser) c.595G>T (p.Ala199Ser) | |
19 | g.6495688C= | CA2320458641 | TUBB4A | c.811G= (p.Ala271=) c.964G= (p.Ala322=) c.946G= (p.Ala316=) c.595G= (p.Ala199=) | |
19 | g.6495688C>G | CA403590937 | TUBB4A | c.811G>C (p.Ala271Pro) c.964G>C (p.Ala322Pro) c.946G>C (p.Ala316Pro) c.595G>C (p.Ala199Pro) | dbSNP |
19 | g.6495688C>T | CA145500 | TUBB4A | c.811G>A (p.Ala271Thr) c.964G>A (p.Ala322Thr) c.946G>A (p.Ala316Thr) c.595G>A (p.Ala199Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6495689G>A | CA9127321 | TUBB4A | c.810C>T (p.Phe270=) c.963C>T (p.Phe321=) c.945C>T (p.Phe315=) c.594C>T (p.Phe198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495689G>C | CA403590940 | TUBB4A | c.810C>G (p.Phe270Leu) c.963C>G (p.Phe321Leu) c.945C>G (p.Phe315Leu) c.594C>G (p.Phe198Leu) | |
19 | g.6495689G= | CA2320458645 | TUBB4A | c.810C= (p.Phe270=) c.963C= (p.Phe321=) c.945C= (p.Phe315=) c.594C= (p.Phe198=) | |
19 | g.6495689G>T | CA403590941 | TUBB4A | c.810C>A (p.Phe270Leu) c.963C>A (p.Phe321Leu) c.945C>A (p.Phe315Leu) c.594C>A (p.Phe198Leu) | |
19 | g.6495689_6495690del | CA2813439731 | TUBB4A | c.809_810del (p.Phe270CysfsTer?) c.962_963del (p.Phe321CysfsTer?) c.944_945del (p.Phe315CysfsTer?) c.593_594del (p.Phe198CysfsTer?) | |
19 | g.6495690A>C | CA403590943 | TUBB4A | c.809T>G (p.Phe270Cys) c.962T>G (p.Phe321Cys) c.944T>G (p.Phe315Cys) c.593T>G (p.Phe198Cys) | |
19 | g.6495690A>G | CA403590944 | TUBB4A | c.809T>C (p.Phe270Ser) c.962T>C (p.Phe321Ser) c.944T>C (p.Phe315Ser) c.593T>C (p.Phe198Ser) | |
19 | g.6495690A>T | CA403590945 | TUBB4A | c.809T>A (p.Phe270Tyr) c.962T>A (p.Phe321Tyr) c.944T>A (p.Phe315Tyr) c.593T>A (p.Phe198Tyr) | |
19 | g.6495691A>C | CA403590950 | TUBB4A | c.808T>G (p.Phe270Val) c.961T>G (p.Phe321Val) c.943T>G (p.Phe315Val) c.592T>G (p.Phe198Val) | |
19 | g.6495691A>G | CA403590948 | TUBB4A | c.808T>C (p.Phe270Leu) c.961T>C (p.Phe321Leu) c.943T>C (p.Phe315Leu) c.592T>C (p.Phe198Leu) | |
19 | g.6495691A>T | CA403590946 | TUBB4A | c.808T>A (p.Phe270Ile) c.961T>A (p.Phe321Ile) c.943T>A (p.Phe315Ile) c.592T>A (p.Phe198Ile) | |
19 | g.6495692G>A | CA505189762 | TUBB4A | c.807C>T (p.Gly269=) c.960C>T (p.Gly320=) c.942C>T (p.Gly314=) c.591C>T (p.Gly197=) | COSMIC |
19 | g.6495692G>C | CA505189764 | TUBB4A | c.807C>G (p.Gly269=) c.960C>G (p.Gly320=) c.942C>G (p.Gly314=) c.591C>G (p.Gly197=) | |
19 | g.6495692G>T | CA505189763 | TUBB4A | c.807C>A (p.Gly269=) c.960C>A (p.Gly320=) c.942C>A (p.Gly314=) c.591C>A (p.Gly197=) | |
19 | g.6495693C>A | CA403590951 | TUBB4A | c.806G>T (p.Gly269Val) c.959G>T (p.Gly320Val) c.941G>T (p.Gly314Val) c.590G>T (p.Gly197Val) | |
19 | g.6495693C>G | CA403590952 | TUBB4A | c.806G>C (p.Gly269Ala) c.959G>C (p.Gly320Ala) c.941G>C (p.Gly314Ala) c.590G>C (p.Gly197Ala) | |
19 | g.6495693C>T | CA403590953 | TUBB4A | c.806G>A (p.Gly269Asp) c.959G>A (p.Gly320Asp) c.941G>A (p.Gly314Asp) c.590G>A (p.Gly197Asp) | COSMIC |
19 | g.6495694C>A | CA403590955 | TUBB4A | c.805G>T (p.Gly269Cys) c.958G>T (p.Gly320Cys) c.940G>T (p.Gly314Cys) c.589G>T (p.Gly197Cys) | |
19 | g.6495694C= | CA2320458648 | TUBB4A | c.805G= (p.Gly269=) c.958G= (p.Gly320=) c.940G= (p.Gly314=) c.589G= (p.Gly197=) | |
19 | g.6495694C>G | CA403590956 | TUBB4A | c.805G>C (p.Gly269Arg) c.958G>C (p.Gly320Arg) c.940G>C (p.Gly314Arg) c.589G>C (p.Gly197Arg) | |
19 | g.6495694C>T | CA403590957 | TUBB4A | c.805G>A (p.Gly269Ser) c.958G>A (p.Gly320Ser) c.940G>A (p.Gly314Ser) c.589G>A (p.Gly197Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495694_6495695insACA | CA2813439733 | TUBB4A | c.804_805insTGT (p.Pro268_Gly269insCys) c.957_958insTGT (p.Pro319_Gly320insCys) c.939_940insTGT (p.Pro313_Gly314insCys) c.588_589insTGT (p.Pro196_Gly197insCys) | |
19 | g.6495695G>A | CA9127322 | TUBB4A | c.804C>T (p.Pro268=) c.957C>T (p.Pro319=) c.939C>T (p.Pro313=) c.588C>T (p.Pro196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495695G>C | CA9127323 | TUBB4A | c.804C>G (p.Pro268=) c.957C>G (p.Pro319=) c.939C>G (p.Pro313=) c.588C>G (p.Pro196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495695G= | CA2320458649 | TUBB4A | c.804C= (p.Pro268=) c.957C= (p.Pro319=) c.939C= (p.Pro313=) c.588C= (p.Pro196=) | |
19 | g.6495695G>T | CA505189774 | TUBB4A | c.804C>A (p.Pro268=) c.957C>A (p.Pro319=) c.939C>A (p.Pro313=) c.588C>A (p.Pro196=) | |
19 | g.6495695_6495702del | CA2813439734 | TUBB4A | c.797_804del (p.Phe266TrpfsTer?) c.950_957del (p.Phe317TrpfsTer?) c.932_939del (p.Phe311TrpfsTer?) c.581_588del (p.Phe194TrpfsTer?) | |
19 | g.6495695_6495705del | CA2813439735 | TUBB4A | c.794_804del (p.Phe265TrpfsTer?) c.947_957del (p.Phe316TrpfsTer?) c.929_939del (p.Phe310TrpfsTer?) c.578_588del (p.Phe193TrpfsTer?) | |
19 | g.6495696G>A | CA403590961 | TUBB4A | c.803C>T (p.Pro268Leu) c.956C>T (p.Pro319Leu) c.938C>T (p.Pro313Leu) c.587C>T (p.Pro196Leu) | |
19 | g.6495696G>C | CA403590962 | TUBB4A | c.803C>G (p.Pro268Arg) c.956C>G (p.Pro319Arg) c.938C>G (p.Pro313Arg) c.587C>G (p.Pro196Arg) | |
19 | g.6495696G>T | CA403590963 | TUBB4A | c.803C>A (p.Pro268His) c.956C>A (p.Pro319His) c.938C>A (p.Pro313His) c.587C>A (p.Pro196His) | dbSNP |
19 | g.6495697G>A | CA403590964 | TUBB4A | c.802C>T (p.Pro268Ser) c.955C>T (p.Pro319Ser) c.937C>T (p.Pro313Ser) c.586C>T (p.Pro196Ser) | |
19 | g.6495697G>C | CA403590966 | TUBB4A | c.802C>G (p.Pro268Ala) c.955C>G (p.Pro319Ala) c.937C>G (p.Pro313Ala) c.586C>G (p.Pro196Ala) | |
19 | g.6495697G>T | CA403590968 | TUBB4A | c.802C>A (p.Pro268Thr) c.955C>A (p.Pro319Thr) c.937C>A (p.Pro313Thr) c.586C>A (p.Pro196Thr) | |
19 | g.6495697_6495698insAC | CA2813439737 | TUBB4A | c.801_802insGT (p.Pro268ValfsTer7) c.954_955insGT (p.Pro319ValfsTer7) c.936_937insGT (p.Pro313ValfsTer7) c.585_586insGT (p.Pro196ValfsTer7) | |
19 | g.6495698C>A | CA403590973 | TUBB4A | c.801G>T (p.Met267Ile) c.954G>T (p.Met318Ile) c.936G>T (p.Met312Ile) c.585G>T (p.Met195Ile) | |
19 | g.6495698C>G | CA403590974 | TUBB4A | c.801G>C (p.Met267Ile) c.954G>C (p.Met318Ile) c.936G>C (p.Met312Ile) c.585G>C (p.Met195Ile) | |
19 | g.6495698C>T | CA403590972 | TUBB4A | c.801G>A (p.Met267Ile) c.954G>A (p.Met318Ile) c.936G>A (p.Met312Ile) c.585G>A (p.Met195Ile) | COSMIC |
19 | g.6495699A= | CA2320458650 | TUBB4A | c.800T= (p.Met267=) c.953T= (p.Met318=) c.935T= (p.Met312=) c.584T= (p.Met195=) | |
19 | g.6495699A>C | CA403590976 | TUBB4A | c.800T>G (p.Met267Arg) c.953T>G (p.Met318Arg) c.935T>G (p.Met312Arg) c.584T>G (p.Met195Arg) | |
19 | g.6495699A>G | CA403590977 | TUBB4A | c.800T>C (p.Met267Thr) c.953T>C (p.Met318Thr) c.935T>C (p.Met312Thr) c.584T>C (p.Met195Thr) | ClinVar dbSNP |
19 | g.6495699A>T | CA403590979 | TUBB4A | c.800T>A (p.Met267Lys) c.953T>A (p.Met318Lys) c.935T>A (p.Met312Lys) c.584T>A (p.Met195Lys) | |
19 | g.6495700T>A | CA403590981 | TUBB4A | c.799A>T (p.Met267Leu) c.952A>T (p.Met318Leu) c.934A>T (p.Met312Leu) c.583A>T (p.Met195Leu) | |
19 | g.6495700T>C | CA403590983 | TUBB4A | c.799A>G (p.Met267Val) c.952A>G (p.Met318Val) c.934A>G (p.Met312Val) c.583A>G (p.Met195Val) | |
19 | g.6495700T>G | CA403590984 | TUBB4A | c.799A>C (p.Met267Leu) c.952A>C (p.Met318Leu) c.934A>C (p.Met312Leu) c.583A>C (p.Met195Leu) | |
19 | g.6495701G>A | CA505189782 | TUBB4A | c.798C>T (p.Phe266=) c.951C>T (p.Phe317=) c.933C>T (p.Phe311=) c.582C>T (p.Phe194=) | |
19 | g.6495701G>C | CA403590986 | TUBB4A | c.798C>G (p.Phe266Leu) c.951C>G (p.Phe317Leu) c.933C>G (p.Phe311Leu) c.582C>G (p.Phe194Leu) | |
19 | g.6495701G>T | CA403590987 | TUBB4A | c.798C>A (p.Phe266Leu) c.951C>A (p.Phe317Leu) c.933C>A (p.Phe311Leu) c.582C>A (p.Phe194Leu) | |
19 | g.6495705_6495707del | CA2587859454 | TUBB4A | c.796_798del (p.Phe266del) c.949_951del (p.Phe317del) c.931_933del (p.Phe311del) c.580_582del (p.Phe194del) | gnomAD v4 |
19 | g.6495702A>C | CA403590989 | TUBB4A | c.797T>G (p.Phe266Cys) c.950T>G (p.Phe317Cys) c.932T>G (p.Phe311Cys) c.581T>G (p.Phe194Cys) | |
19 | g.6495702A>G | CA403590991 | TUBB4A | c.797T>C (p.Phe266Ser) c.950T>C (p.Phe317Ser) c.932T>C (p.Phe311Ser) c.581T>C (p.Phe194Ser) | |
19 | g.6495702A>T | CA403590992 | TUBB4A | c.797T>A (p.Phe266Tyr) c.950T>A (p.Phe317Tyr) c.932T>A (p.Phe311Tyr) c.581T>A (p.Phe194Tyr) | |
19 | g.6495703A>C | CA403590996 | TUBB4A | c.796T>G (p.Phe266Val) c.949T>G (p.Phe317Val) c.931T>G (p.Phe311Val) c.580T>G (p.Phe194Val) | |
19 | g.6495703A>G | CA403590995 | TUBB4A | c.796T>C (p.Phe266Leu) c.949T>C (p.Phe317Leu) c.931T>C (p.Phe311Leu) c.580T>C (p.Phe194Leu) | |
19 | g.6495703A>T | CA403590994 | TUBB4A | c.796T>A (p.Phe266Ile) c.949T>A (p.Phe317Ile) c.931T>A (p.Phe311Ile) c.580T>A (p.Phe194Ile) | ClinVar dbSNP |
19 | g.6495704_6495705del | CA2813439738 | TUBB4A | c.795_796del (p.Phe266HisfsTer?) c.948_949del (p.Phe317HisfsTer?) c.930_931del (p.Phe311HisfsTer?) c.579_580del (p.Phe194HisfsTer?) | |
19 | g.6495704G>A | CA505189784 | TUBB4A | c.795C>T (p.Phe265=) c.948C>T (p.Phe316=) c.930C>T (p.Phe310=) c.579C>T (p.Phe193=) | |
19 | g.6495704G>C | CA403590998 | TUBB4A | c.795C>G (p.Phe265Leu) c.948C>G (p.Phe316Leu) c.930C>G (p.Phe310Leu) c.579C>G (p.Phe193Leu) | |
19 | g.6495704G>T | CA403590999 | TUBB4A | c.795C>A (p.Phe265Leu) c.948C>A (p.Phe316Leu) c.930C>A (p.Phe310Leu) c.579C>A (p.Phe193Leu) | |
19 | g.6495705A>C | CA403591000 | TUBB4A | c.794T>G (p.Phe265Cys) c.947T>G (p.Phe316Cys) c.929T>G (p.Phe310Cys) c.578T>G (p.Phe193Cys) | |
19 | g.6495705A>G | CA403591001 | TUBB4A | c.794T>C (p.Phe265Ser) c.947T>C (p.Phe316Ser) c.929T>C (p.Phe310Ser) c.578T>C (p.Phe193Ser) | |
19 | g.6495705A>T | CA403591003 | TUBB4A | c.794T>A (p.Phe265Tyr) c.947T>A (p.Phe316Tyr) c.929T>A (p.Phe310Tyr) c.578T>A (p.Phe193Tyr) | |
19 | g.6495706A>C | CA403591005 | TUBB4A | c.793T>G (p.Phe265Val) c.946T>G (p.Phe316Val) c.928T>G (p.Phe310Val) c.577T>G (p.Phe193Val) | |
19 | g.6495706A>G | CA403591006 | TUBB4A | c.793T>C (p.Phe265Leu) c.946T>C (p.Phe316Leu) c.928T>C (p.Phe310Leu) c.577T>C (p.Phe193Leu) | |
19 | g.6495706A>T | CA403591008 | TUBB4A | c.793T>A (p.Phe265Ile) c.946T>A (p.Phe316Ile) c.928T>A (p.Phe310Ile) c.577T>A (p.Phe193Ile) | |
19 | g.6495707G>A | CA505189789 | TUBB4A | c.792C>T (p.His264=) c.945C>T (p.His315=) c.927C>T (p.His309=) c.576C>T (p.His192=) | gnomAD v4 |
19 | g.6495707G>C | CA403591010 | TUBB4A | c.792C>G (p.His264Gln) c.945C>G (p.His315Gln) c.927C>G (p.His309Gln) c.576C>G (p.His192Gln) | |
19 | g.6495707G>T | CA403591011 | TUBB4A | c.792C>A (p.His264Gln) c.945C>A (p.His315Gln) c.927C>A (p.His309Gln) c.576C>A (p.His192Gln) | |
19 | g.6495708T>A | CA403591013 | TUBB4A | c.791A>T (p.His264Leu) c.944A>T (p.His315Leu) c.926A>T (p.His309Leu) c.575A>T (p.His192Leu) | |
19 | g.6495708T>C | CA403591014 | TUBB4A | c.791A>G (p.His264Arg) c.944A>G (p.His315Arg) c.926A>G (p.His309Arg) c.575A>G (p.His192Arg) | |
19 | g.6495708T>G | CA403591015 | TUBB4A | c.791A>C (p.His264Pro) c.944A>C (p.His315Pro) c.926A>C (p.His309Pro) c.575A>C (p.His192Pro) | |
19 | g.6495709G>A | CA403591019 | TUBB4A | c.790C>T (p.His264Tyr) c.943C>T (p.His315Tyr) c.925C>T (p.His309Tyr) c.574C>T (p.His192Tyr) | gnomAD v4 |
19 | g.6495709G>C | CA403591020 | TUBB4A | c.790C>G (p.His264Asp) c.943C>G (p.His315Asp) c.925C>G (p.His309Asp) c.574C>G (p.His192Asp) | |
19 | g.6495709G>T | CA403591017 | TUBB4A | c.790C>A (p.His264Asn) c.943C>A (p.His315Asn) c.925C>A (p.His309Asn) c.574C>A (p.His192Asn) | |
19 | g.6495710C>A | CA505189801 | TUBB4A | c.789G>T (p.Leu263=) c.942G>T (p.Leu314=) c.924G>T (p.Leu308=) c.573G>T (p.Leu191=) | gnomAD v4 |
19 | g.6495710C>G | CA505189802 | TUBB4A | c.789G>C (p.Leu263=) c.942G>C (p.Leu314=) c.924G>C (p.Leu308=) c.573G>C (p.Leu191=) | |
19 | g.6495710C>T | CA505189803 | TUBB4A | c.789G>A (p.Leu263=) c.942G>A (p.Leu314=) c.924G>A (p.Leu308=) c.573G>A (p.Leu191=) | |
19 | g.6495711A>C | CA403591023 | TUBB4A | c.788T>G (p.Leu263Arg) c.941T>G (p.Leu314Arg) c.923T>G (p.Leu308Arg) c.572T>G (p.Leu191Arg) | |
19 | g.6495711A>G | CA403591021 | TUBB4A | c.788T>C (p.Leu263Pro) c.941T>C (p.Leu314Pro) c.923T>C (p.Leu308Pro) c.572T>C (p.Leu191Pro) | |
19 | g.6495711A>T | CA403591026 | TUBB4A | c.788T>A (p.Leu263Gln) c.941T>A (p.Leu314Gln) c.923T>A (p.Leu308Gln) c.572T>A (p.Leu191Gln) | |
19 | g.6495712G>A | CA505189804 | TUBB4A | c.787C>T (p.Leu263=) c.940C>T (p.Leu314=) c.922C>T (p.Leu308=) c.571C>T (p.Leu191=) | gnomAD v4 |
19 | g.6495712G>C | CA403591027 | TUBB4A | c.787C>G (p.Leu263Val) c.940C>G (p.Leu314Val) c.922C>G (p.Leu308Val) c.571C>G (p.Leu191Val) | |
19 | g.6495712G>T | CA403591029 | TUBB4A | c.787C>A (p.Leu263Met) c.940C>A (p.Leu314Met) c.922C>A (p.Leu308Met) c.571C>A (p.Leu191Met) | |
19 | g.6495713G>A | CA9127324 | TUBB4A | c.786C>T (p.Arg262=) c.939C>T (p.Arg313=) c.921C>T (p.Arg307=) c.570C>T (p.Arg190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495713G>C | CA505189809 | TUBB4A | c.786C>G (p.Arg262=) c.939C>G (p.Arg313=) c.921C>G (p.Arg307=) c.570C>G (p.Arg190=) | |
19 | g.6495713G= | CA2320458652 | TUBB4A | c.786C= (p.Arg262=) c.939C= (p.Arg313=) c.921C= (p.Arg307=) c.570C= (p.Arg190=) | |
19 | g.6495713G>T | CA505189807 | TUBB4A | c.786C>A (p.Arg262=) c.939C>A (p.Arg313=) c.921C>A (p.Arg307=) c.570C>A (p.Arg190=) | |
19 | g.6495714C>A | CA403591031 | TUBB4A | c.785G>T (p.Arg262Leu) c.938G>T (p.Arg313Leu) c.920G>T (p.Arg307Leu) c.569G>T (p.Arg190Leu) | |
19 | g.6495714C= | CA2320458654 | TUBB4A | c.785G= (p.Arg262=) c.938G= (p.Arg313=) c.920G= (p.Arg307=) c.569G= (p.Arg190=) | |
19 | g.6495714C>G | CA403591033 | TUBB4A | c.785G>C (p.Arg262Pro) c.938G>C (p.Arg313Pro) c.920G>C (p.Arg307Pro) c.569G>C (p.Arg190Pro) | |
19 | g.6495714C>T | CA10588689 | TUBB4A | c.785G>A (p.Arg262His) c.938G>A (p.Arg313His) c.920G>A (p.Arg307His) c.569G>A (p.Arg190His) | ClinVar dbSNP COSMIC |
19 | g.6495715G>A | CA403591035 | TUBB4A | c.784C>T (p.Arg262Cys) c.937C>T (p.Arg313Cys) c.919C>T (p.Arg307Cys) c.568C>T (p.Arg190Cys) | COSMIC |
19 | g.6495715G>C | CA403591037 | TUBB4A | c.784C>G (p.Arg262Gly) c.937C>G (p.Arg313Gly) c.919C>G (p.Arg307Gly) c.568C>G (p.Arg190Gly) | |
19 | g.6495715G>T | CA403591038 | TUBB4A | c.784C>A (p.Arg262Ser) c.937C>A (p.Arg313Ser) c.919C>A (p.Arg307Ser) c.568C>A (p.Arg190Ser) | |
19 | g.6495716A>C | CA505189810 | TUBB4A | c.783T>G (p.Pro261=) c.936T>G (p.Pro312=) c.918T>G (p.Pro306=) c.567T>G (p.Pro189=) | |
19 | g.6495716A>G | CA505189811 | TUBB4A | c.783T>C (p.Pro261=) c.936T>C (p.Pro312=) c.918T>C (p.Pro306=) c.567T>C (p.Pro189=) | |
19 | g.6495716A>T | CA505189812 | TUBB4A | c.783T>A (p.Pro261=) c.936T>A (p.Pro312=) c.918T>A (p.Pro306=) c.567T>A (p.Pro189=) | |
19 | g.6495717G>A | CA403591040 | TUBB4A | c.782C>T (p.Pro261Leu) c.935C>T (p.Pro312Leu) c.917C>T (p.Pro306Leu) c.566C>T (p.Pro189Leu) | |
19 | g.6495717G>C | CA403591042 | TUBB4A | c.782C>G (p.Pro261Arg) c.935C>G (p.Pro312Arg) c.917C>G (p.Pro306Arg) c.566C>G (p.Pro189Arg) | |
19 | g.6495717G>T | CA403591043 | TUBB4A | c.782C>A (p.Pro261His) c.935C>A (p.Pro312His) c.917C>A (p.Pro306His) c.566C>A (p.Pro189His) | |
19 | g.6495718G>A | CA403591048 | TUBB4A | c.781C>T (p.Pro261Ser) c.934C>T (p.Pro312Ser) c.916C>T (p.Pro306Ser) c.565C>T (p.Pro189Ser) | COSMIC |
19 | g.6495718G>C | CA403591045 | TUBB4A | c.781C>G (p.Pro261Ala) c.934C>G (p.Pro312Ala) c.916C>G (p.Pro306Ala) c.565C>G (p.Pro189Ala) | |
19 | g.6495718G>T | CA403591046 | TUBB4A | c.781C>A (p.Pro261Thr) c.934C>A (p.Pro312Thr) c.916C>A (p.Pro306Thr) c.565C>A (p.Pro189Thr) | |
19 | g.6495719A>C | CA403591050 | TUBB4A | c.780T>G (p.Phe260Leu) c.933T>G (p.Phe311Leu) c.915T>G (p.Phe305Leu) c.564T>G (p.Phe188Leu) | |
19 | g.6495719A>G | CA505189814 | TUBB4A | c.780T>C (p.Phe260=) c.933T>C (p.Phe311=) c.915T>C (p.Phe305=) c.564T>C (p.Phe188=) | |
19 | g.6495719A>T | CA403591052 | TUBB4A | c.780T>A (p.Phe260Leu) c.933T>A (p.Phe311Leu) c.915T>A (p.Phe305Leu) c.564T>A (p.Phe188Leu) | |
19 | g.6495720A>C | CA403591054 | TUBB4A | c.779T>G (p.Phe260Cys) c.932T>G (p.Phe311Cys) c.914T>G (p.Phe305Cys) c.563T>G (p.Phe188Cys) | |
19 | g.6495720A>G | CA403591055 | TUBB4A | c.779T>C (p.Phe260Ser) c.932T>C (p.Phe311Ser) c.914T>C (p.Phe305Ser) c.563T>C (p.Phe188Ser) | |
19 | g.6495720A>T | CA403591057 | TUBB4A | c.779T>A (p.Phe260Tyr) c.932T>A (p.Phe311Tyr) c.914T>A (p.Phe305Tyr) c.563T>A (p.Phe188Tyr) | |
19 | g.6495721A>C | CA403591059 | TUBB4A | c.778T>G (p.Phe260Val) c.931T>G (p.Phe311Val) c.913T>G (p.Phe305Val) c.562T>G (p.Phe188Val) | |
19 | g.6495721A>G | CA403591061 | TUBB4A | c.778T>C (p.Phe260Leu) c.931T>C (p.Phe311Leu) c.913T>C (p.Phe305Leu) c.562T>C (p.Phe188Leu) | |
19 | g.6495721A>T | CA403591062 | TUBB4A | c.778T>A (p.Phe260Ile) c.931T>A (p.Phe311Ile) c.913T>A (p.Phe305Ile) c.562T>A (p.Phe188Ile) | |
19 | g.6495722G>A | CA505189822 | TUBB4A | c.777C>T (p.Pro259=) c.465C>T (p.Pro155=) c.930C>T (p.Pro310=) c.912C>T (p.Pro304=) c.561C>T (p.Pro187=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6495722G>C | CA9127325 | TUBB4A | c.777C>G (p.Pro259=) c.465C>G (p.Pro155=) c.930C>G (p.Pro310=) c.912C>G (p.Pro304=) c.561C>G (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495722G= | CA2320458659 | TUBB4A | c.777C= (p.Pro259=) c.465C= (p.Pro155=) c.930C= (p.Pro310=) c.912C= (p.Pro304=) c.561C= (p.Pro187=) | |
19 | g.6495722G>T | CA505189821 | TUBB4A | c.777C>A (p.Pro259=) c.465C>A (p.Pro155=) c.930C>A (p.Pro310=) c.912C>A (p.Pro304=) c.561C>A (p.Pro187=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.6495723G>A | CA403591065 | TUBB4A | c.776C>T (p.Pro259Leu) c.464C>T (p.Pro155Leu) c.929C>T (p.Pro310Leu) c.911C>T (p.Pro304Leu) c.560C>T (p.Pro187Leu) | |
19 | g.6495723G>C | CA403591067 | TUBB4A | c.776C>G (p.Pro259Arg) c.464C>G (p.Pro155Arg) c.929C>G (p.Pro310Arg) c.911C>G (p.Pro304Arg) c.560C>G (p.Pro187Arg) | |
19 | g.6495723G>T | CA403591068 | TUBB4A | c.776C>A (p.Pro259His) c.464C>A (p.Pro155His) c.929C>A (p.Pro310His) c.911C>A (p.Pro304His) c.560C>A (p.Pro187His) | |
19 | g.6495724G>A | CA403591070 | TUBB4A | c.775C>T (p.Pro259Ser) c.463C>T (p.Pro155Ser) c.928C>T (p.Pro310Ser) c.910C>T (p.Pro304Ser) c.559C>T (p.Pro187Ser) | |
19 | g.6495724G>C | CA403591071 | TUBB4A | c.775C>G (p.Pro259Ala) c.463C>G (p.Pro155Ala) c.928C>G (p.Pro310Ala) c.910C>G (p.Pro304Ala) c.559C>G (p.Pro187Ala) | |
19 | g.6495724G>T | CA403591069 | TUBB4A | c.775C>A (p.Pro259Thr) c.463C>A (p.Pro155Thr) c.928C>A (p.Pro310Thr) c.910C>A (p.Pro304Thr) c.559C>A (p.Pro187Thr) | |
19 | g.6495725A= | CA2320458661 | TUBB4A | c.774T= (p.Val258=) c.462T= (p.Val154=) c.927T= (p.Val309=) c.909T= (p.Val303=) c.558T= (p.Val186=) | |
19 | g.6495725A>C | CA505189823 | TUBB4A | c.774T>G (p.Val258=) c.462T>G (p.Val154=) c.927T>G (p.Val309=) c.909T>G (p.Val303=) c.558T>G (p.Val186=) | |
19 | g.6495725A>G | CA9127326 | TUBB4A | c.774T>C (p.Val258=) c.462T>C (p.Val154=) c.927T>C (p.Val309=) c.909T>C (p.Val303=) c.558T>C (p.Val186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495725A>T | CA505189825 | TUBB4A | c.774T>A (p.Val258=) c.462T>A (p.Val154=) c.927T>A (p.Val309=) c.909T>A (p.Val303=) c.558T>A (p.Val186=) | ClinVar dbSNP |
19 | g.6495726A>C | CA403591072 | TUBB4A | c.773T>G (p.Val258Gly) c.461T>G (p.Val154Gly) c.926T>G (p.Val309Gly) c.908T>G (p.Val303Gly) c.557T>G (p.Val186Gly) | |
19 | g.6495726A>G | CA403591073 | TUBB4A | c.773T>C (p.Val258Ala) c.461T>C (p.Val154Ala) c.926T>C (p.Val309Ala) c.908T>C (p.Val303Ala) c.557T>C (p.Val186Ala) | |
19 | g.6495726A>T | CA403591074 | TUBB4A | c.773T>A (p.Val258Asp) c.461T>A (p.Val154Asp) c.926T>A (p.Val309Asp) c.908T>A (p.Val303Asp) c.557T>A (p.Val186Asp) | |
19 | g.6495727C>A | CA403591076 | TUBB4A | c.772G>T (p.Val258Phe) c.460G>T (p.Val154Phe) c.925G>T (p.Val309Phe) c.907G>T (p.Val303Phe) c.556G>T (p.Val186Phe) | |
19 | g.6495727C>G | CA403591078 | TUBB4A | c.772G>C (p.Val258Leu) c.460G>C (p.Val154Leu) c.925G>C (p.Val309Leu) c.907G>C (p.Val303Leu) c.556G>C (p.Val186Leu) | |
19 | g.6495727C>T | CA403591079 | TUBB4A | c.772G>A (p.Val258Ile) c.460G>A (p.Val154Ile) c.925G>A (p.Val309Ile) c.907G>A (p.Val303Ile) c.556G>A (p.Val186Ile) | |
19 | g.6495728C>A | CA403591081 | TUBB4A | c.771G>T (p.Met257Ile) c.459G>T (p.Met153Ile) c.924G>T (p.Met308Ile) c.906G>T (p.Met302Ile) c.555G>T (p.Met185Ile) | |
19 | g.6495728C= | CA2320458663 | TUBB4A | c.771G= (p.Met257=) c.459G= (p.Met153=) c.924G= (p.Met308=) c.906G= (p.Met302=) c.555G= (p.Met185=) | |
19 | g.6495728C>G | CA403591082 | TUBB4A | c.771G>C (p.Met257Ile) c.459G>C (p.Met153Ile) c.924G>C (p.Met308Ile) c.906G>C (p.Met302Ile) c.555G>C (p.Met185Ile) | |
19 | g.6495728C>T | CA403591084 | TUBB4A | c.771G>A (p.Met257Ile) c.459G>A (p.Met153Ile) c.924G>A (p.Met308Ile) c.906G>A (p.Met302Ile) c.555G>A (p.Met185Ile) | dbSNP gnomAD v2 |
19 | g.6495729A>C | CA403591085 | TUBB4A | c.770T>G (p.Met257Arg) c.458T>G (p.Met153Arg) c.923T>G (p.Met308Arg) c.905T>G (p.Met302Arg) c.554T>G (p.Met185Arg) | |
19 | g.6495729A>G | CA403591087 | TUBB4A | c.770T>C (p.Met257Thr) c.458T>C (p.Met153Thr) c.923T>C (p.Met308Thr) c.905T>C (p.Met302Thr) c.554T>C (p.Met185Thr) | |
19 | g.6495729A>T | CA403591088 | TUBB4A | c.770T>A (p.Met257Lys) c.458T>A (p.Met153Lys) c.923T>A (p.Met308Lys) c.905T>A (p.Met302Lys) c.554T>A (p.Met185Lys) | |
19 | g.6495730T>A | CA403591094 | TUBB4A | c.769A>T (p.Met257Leu) c.457A>T (p.Met153Leu) c.922A>T (p.Met308Leu) c.904A>T (p.Met302Leu) c.553A>T (p.Met185Leu) | ClinVar dbSNP |
19 | g.6495730T>C | CA403591092 | TUBB4A | c.769A>G (p.Met257Val) c.457A>G (p.Met153Val) c.922A>G (p.Met308Val) c.904A>G (p.Met302Val) c.553A>G (p.Met185Val) | ClinVar dbSNP |
19 | g.6495730T>G | CA403591091 | TUBB4A | c.769A>C (p.Met257Leu) c.457A>C (p.Met153Leu) c.922A>C (p.Met308Leu) c.904A>C (p.Met302Leu) c.553A>C (p.Met185Leu) | |
19 | g.6495730T= | CA2320458665 | TUBB4A | c.769A= (p.Met257=) c.457A= (p.Met153=) c.922A= (p.Met308=) c.904A= (p.Met302=) c.553A= (p.Met185=) | |
19 | g.6495731G>A | CA505189830 | TUBB4A | c.768C>T (p.Asn256=) c.456C>T (p.Asn152=) c.921C>T (p.Asn307=) c.903C>T (p.Asn301=) c.552C>T (p.Asn184=) | gnomAD v4 |
19 | g.6495731G>C | CA403591096 | TUBB4A | c.768C>G (p.Asn256Lys) c.456C>G (p.Asn152Lys) c.921C>G (p.Asn307Lys) c.903C>G (p.Asn301Lys) c.552C>G (p.Asn184Lys) | |
19 | g.6495731G>T | CA403591098 | TUBB4A | c.768C>A (p.Asn256Lys) c.456C>A (p.Asn152Lys) c.921C>A (p.Asn307Lys) c.903C>A (p.Asn301Lys) c.552C>A (p.Asn184Lys) | |
19 | g.6495731_6495734del | CA2813439739 | TUBB4A | c.765_768del (p.Asn256TrpfsTer17) c.453_456del (p.Asn152TrpfsTer?) c.918_921del (p.Asn307TrpfsTer17) c.900_903del (p.Asn301TrpfsTer17) c.549_552del (p.Asn184TrpfsTer17) | |
19 | g.6495732T>A | CA403591099 | TUBB4A | c.767A>T (p.Asn256Ile) c.455A>T (p.Asn152Ile) c.920A>T (p.Asn307Ile) c.902A>T (p.Asn301Ile) c.551A>T (p.Asn184Ile) | |
19 | g.6495732T>C | CA403591101 | TUBB4A | c.767A>G (p.Asn256Ser) c.455A>G (p.Asn152Ser) c.920A>G (p.Asn307Ser) c.902A>G (p.Asn301Ser) c.551A>G (p.Asn184Ser) | |
19 | g.6495732T>G | CA403591103 | TUBB4A | c.767A>C (p.Asn256Thr) c.455A>C (p.Asn152Thr) c.920A>C (p.Asn307Thr) c.902A>C (p.Asn301Thr) c.551A>C (p.Asn184Thr) | |
19 | g.6495733T>A | CA403591105 | TUBB4A | c.766A>T (p.Asn256Tyr) c.454A>T (p.Asn152Tyr) c.919A>T (p.Asn307Tyr) c.901A>T (p.Asn301Tyr) c.550A>T (p.Asn184Tyr) | |
19 | g.6495733T>C | CA403591106 | TUBB4A | c.766A>G (p.Asn256Asp) c.454A>G (p.Asn152Asp) c.919A>G (p.Asn307Asp) c.901A>G (p.Asn301Asp) c.550A>G (p.Asn184Asp) | |
19 | g.6495733T>G | CA403591108 | TUBB4A | c.766A>C (p.Asn256His) c.454A>C (p.Asn152His) c.919A>C (p.Asn307His) c.901A>C (p.Asn301His) c.550A>C (p.Asn184His) | |
19 | g.6495734G>A | CA505189834 | TUBB4A | c.765C>T (p.Val255=) c.453C>T (p.Val151=) c.918C>T (p.Val306=) c.900C>T (p.Val300=) c.549C>T (p.Val183=) | |
19 | g.6495734G>C | CA505189836 | TUBB4A | c.765C>G (p.Val255=) c.453C>G (p.Val151=) c.918C>G (p.Val306=) c.900C>G (p.Val300=) c.549C>G (p.Val183=) | |
19 | g.6495734G>T | CA505189835 | TUBB4A | c.765C>A (p.Val255=) c.453C>A (p.Val151=) c.918C>A (p.Val306=) c.900C>A (p.Val300=) c.549C>A (p.Val183=) | |
19 | g.6495735A>C | CA403591110 | TUBB4A | c.764T>G (p.Val255Gly) c.452T>G (p.Val151Gly) c.917T>G (p.Val306Gly) c.899T>G (p.Val300Gly) c.548T>G (p.Val183Gly) | |
19 | g.6495735A>G | CA403591112 | TUBB4A | c.764T>C (p.Val255Ala) c.452T>C (p.Val151Ala) c.917T>C (p.Val306Ala) c.899T>C (p.Val300Ala) c.548T>C (p.Val183Ala) | |
19 | g.6495735A>T | CA403591113 | TUBB4A | c.764T>A (p.Val255Asp) c.452T>A (p.Val151Asp) c.917T>A (p.Val306Asp) c.899T>A (p.Val300Asp) c.548T>A (p.Val183Asp) | |
19 | g.6495736C>A | CA9127327 | TUBB4A | c.763G>T (p.Val255Phe) c.451G>T (p.Val151Phe) c.916G>T (p.Val306Phe) c.898G>T (p.Val300Phe) c.547G>T (p.Val183Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.6495736C= | CA2320458667 | TUBB4A | c.763G= (p.Val255=) c.451G= (p.Val151=) c.916G= (p.Val306=) c.898G= (p.Val300=) c.547G= (p.Val183=) | |
19 | g.6495736C>G | CA403591114 | TUBB4A | c.763G>C (p.Val255Leu) c.451G>C (p.Val151Leu) c.916G>C (p.Val306Leu) c.898G>C (p.Val300Leu) c.547G>C (p.Val183Leu) | |
19 | g.6495736C>T | CA210032 | TUBB4A | c.763G>A (p.Val255Ile) c.451G>A (p.Val151Ile) c.916G>A (p.Val306Ile) c.898G>A (p.Val300Ile) c.547G>A (p.Val183Ile) | ClinVar dbSNP COSMIC |
19 | g.6495736_6495737insACA | CA2813439740 | TUBB4A | c.762_763insTGT (p.Ala254_Val255insCys) c.450_451insTGT (p.Ala150_Val151insCys) c.915_916insTGT (p.Ala305_Val306insCys) c.897_898insTGT (p.Ala299_Val300insCys) c.546_547insTGT (p.Ala182_Val183insCys) | |
19 | g.6495737G>A | CA9127328 | TUBB4A | c.762C>T (p.Ala254=) c.450C>T (p.Ala150=) c.915C>T (p.Ala305=) c.897C>T (p.Ala299=) c.546C>T (p.Ala182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495737G>C | CA505189842 | TUBB4A | c.762C>G (p.Ala254=) c.450C>G (p.Ala150=) c.915C>G (p.Ala305=) c.897C>G (p.Ala299=) c.546C>G (p.Ala182=) | |
19 | g.6495737G= | CA2320458672 | TUBB4A | c.762C= (p.Ala254=) c.450C= (p.Ala150=) c.915C= (p.Ala305=) c.897C= (p.Ala299=) c.546C= (p.Ala182=) | |
19 | g.6495737G>T | CA505189843 | TUBB4A | c.762C>A (p.Ala254=) c.450C>A (p.Ala150=) c.915C>A (p.Ala305=) c.897C>A (p.Ala299=) c.546C>A (p.Ala182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.6495738G>A | CA403591120 | TUBB4A | c.761C>T (p.Ala254Val) c.449C>T (p.Ala150Val) c.914C>T (p.Ala305Val) c.896C>T (p.Ala299Val) c.545C>T (p.Ala182Val) | COSMIC |
19 | g.6495738G>C | CA403591118 | TUBB4A | c.761C>G (p.Ala254Gly) c.449C>G (p.Ala150Gly) c.914C>G (p.Ala305Gly) c.896C>G (p.Ala299Gly) c.545C>G (p.Ala182Gly) | COSMIC |
19 | g.6495738G>T | CA403591119 | TUBB4A | c.761C>A (p.Ala254Asp) c.449C>A (p.Ala150Asp) c.914C>A (p.Ala305Asp) c.896C>A (p.Ala299Asp) c.545C>A (p.Ala182Asp) | COSMIC |
19 | g.6495739C>A | CA403591123 | TUBB4A | c.760G>T (p.Ala254Ser) c.448G>T (p.Ala150Ser) c.913G>T (p.Ala305Ser) c.895G>T (p.Ala299Ser) c.544G>T (p.Ala182Ser) | |
19 | g.6495739C>G | CA403591124 | TUBB4A | c.760G>C (p.Ala254Pro) c.448G>C (p.Ala150Pro) c.913G>C (p.Ala305Pro) c.895G>C (p.Ala299Pro) c.544G>C (p.Ala182Pro) | |
19 | g.6495739C>T | CA403591127 | TUBB4A | c.760G>A (p.Ala254Thr) c.448G>A (p.Ala150Thr) c.913G>A (p.Ala305Thr) c.895G>A (p.Ala299Thr) c.544G>A (p.Ala182Thr) | |
19 | g.6495740C>A | CA505189847 | TUBB4A | c.759G>T (p.Leu253=) c.447G>T (p.Leu149=) c.912G>T (p.Leu304=) c.894G>T (p.Leu298=) c.543G>T (p.Leu181=) | |
19 | g.6495740C>G | CA505189848 | TUBB4A | c.759G>C (p.Leu253=) c.447G>C (p.Leu149=) c.912G>C (p.Leu304=) c.894G>C (p.Leu298=) c.543G>C (p.Leu181=) | |
19 | g.6495740C>T | CA505189850 | TUBB4A | c.759G>A (p.Leu253=) c.447G>A (p.Leu149=) c.912G>A (p.Leu304=) c.894G>A (p.Leu298=) c.543G>A (p.Leu181=) | gnomAD v4 |
19 | g.6495741A>C | CA403591129 | TUBB4A | c.758T>G (p.Leu253Arg) c.446T>G (p.Leu149Arg) c.911T>G (p.Leu304Arg) c.893T>G (p.Leu298Arg) c.542T>G (p.Leu181Arg) | |
19 | g.6495741A>G | CA403591131 | TUBB4A | c.758T>C (p.Leu253Pro) c.446T>C (p.Leu149Pro) c.911T>C (p.Leu304Pro) c.893T>C (p.Leu298Pro) c.542T>C (p.Leu181Pro) | |
19 | g.6495741A>T | CA403591132 | TUBB4A | c.758T>A (p.Leu253Gln) c.446T>A (p.Leu149Gln) c.911T>A (p.Leu304Gln) c.893T>A (p.Leu298Gln) c.542T>A (p.Leu181Gln) | |
19 | g.6495742G>A | CA505189852 | TUBB4A | c.757C>T (p.Leu253=) c.445C>T (p.Leu149=) c.910C>T (p.Leu304=) c.892C>T (p.Leu298=) c.541C>T (p.Leu181=) | |
19 | g.6495742G>C | CA403591135 | TUBB4A | c.757C>G (p.Leu253Val) c.445C>G (p.Leu149Val) c.910C>G (p.Leu304Val) c.892C>G (p.Leu298Val) c.541C>G (p.Leu181Val) | |
19 | g.6495742G>T | CA403591138 | TUBB4A | c.757C>A (p.Leu253Met) c.445C>A (p.Leu149Met) c.910C>A (p.Leu304Met) c.892C>A (p.Leu298Met) c.541C>A (p.Leu181Met) | |
19 | g.6495743C>A | CA403591139 | TUBB4A | c.756G>T (p.Lys252Asn) c.444G>T (p.Lys148Asn) c.909G>T (p.Lys303Asn) c.891G>T (p.Lys297Asn) c.540G>T (p.Lys180Asn) | |
19 | g.6495743C>G | CA403591141 | TUBB4A | c.756G>C (p.Lys252Asn) c.444G>C (p.Lys148Asn) c.909G>C (p.Lys303Asn) c.891G>C (p.Lys297Asn) c.540G>C (p.Lys180Asn) | |
19 | g.6495743C>T | CA505189854 | TUBB4A | c.756G>A (p.Lys252=) c.444G>A (p.Lys148=) c.909G>A (p.Lys303=) c.891G>A (p.Lys297=) c.540G>A (p.Lys180=) | |
19 | g.6495744T>A | CA403591145 | TUBB4A | c.755A>T (p.Lys252Met) c.443A>T (p.Lys148Met) c.908A>T (p.Lys303Met) c.890A>T (p.Lys297Met) c.539A>T (p.Lys180Met) | |
19 | g.6495744T>C | CA403591147 | TUBB4A | c.755A>G (p.Lys252Arg) c.443A>G (p.Lys148Arg) c.908A>G (p.Lys303Arg) c.890A>G (p.Lys297Arg) c.539A>G (p.Lys180Arg) | ClinVar |
19 | g.6495744T>G | CA403591149 | TUBB4A | c.755A>C (p.Lys252Thr) c.443A>C (p.Lys148Thr) c.908A>C (p.Lys303Thr) c.890A>C (p.Lys297Thr) c.539A>C (p.Lys180Thr) | |
19 | g.6495745T>A | CA403591155 | TUBB4A | c.754A>T (p.Lys252Ter) c.442A>T (p.Lys148Ter) c.907A>T (p.Lys303Ter) c.889A>T (p.Lys297Ter) c.538A>T (p.Lys180Ter) | |
19 | g.6495745T>C | CA304775699 | TUBB4A | c.754A>G (p.Lys252Glu) c.442A>G (p.Lys148Glu) c.907A>G (p.Lys303Glu) c.889A>G (p.Lys297Glu) c.538A>G (p.Lys180Glu) | dbSNP |
19 | g.6495745T>G | CA403591153 | TUBB4A | c.754A>C (p.Lys252Gln) c.442A>C (p.Lys148Gln) c.907A>C (p.Lys303Gln) c.889A>C (p.Lys297Gln) c.538A>C (p.Lys180Gln) | |
19 | g.6495745T= | CA2320458676 | TUBB4A | c.754A= (p.Lys252=) c.442A= (p.Lys148=) c.907A= (p.Lys303=) c.889A= (p.Lys297=) c.538A= (p.Lys180=) | |
19 | g.6495746G>A | CA505189858 | TUBB4A | c.753C>T (p.Arg251=) c.441C>T (p.Arg147=) c.906C>T (p.Arg302=) c.888C>T (p.Arg296=) c.537C>T (p.Arg179=) | |
19 | g.6495746G>C | CA505189859 | TUBB4A | c.753C>G (p.Arg251=) c.441C>G (p.Arg147=) c.906C>G (p.Arg302=) c.888C>G (p.Arg296=) c.537C>G (p.Arg179=) | |
19 | g.6495746G>T | CA505189860 | TUBB4A | c.753C>A (p.Arg251=) c.441C>A (p.Arg147=) c.906C>A (p.Arg302=) c.888C>A (p.Arg296=) c.537C>A (p.Arg179=) | |
19 | g.6495747C>A | CA403591156 | TUBB4A | c.752G>T (p.Arg251Leu) c.440G>T (p.Arg147Leu) c.905G>T (p.Arg302Leu) c.887G>T (p.Arg296Leu) c.536G>T (p.Arg179Leu) | |
19 | g.6495747C= | CA2320458680 | TUBB4A | c.752G= (p.Arg251=) c.440G= (p.Arg147=) c.905G= (p.Arg302=) c.887G= (p.Arg296=) c.536G= (p.Arg179=) | |
19 | g.6495747C>G | CA403591158 | TUBB4A | c.752G>C (p.Arg251Pro) c.440G>C (p.Arg147Pro) c.905G>C (p.Arg302Pro) c.887G>C (p.Arg296Pro) c.536G>C (p.Arg179Pro) | |
19 | g.6495747C>T | CA9127329 | TUBB4A | c.752G>A (p.Arg251His) c.440G>A (p.Arg147His) c.905G>A (p.Arg302His) c.887G>A (p.Arg296His) c.536G>A (p.Arg179His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.6495748G>A | CA403591164 | TUBB4A | c.751C>T (p.Arg251Cys) c.439C>T (p.Arg147Cys) c.904C>T (p.Arg302Cys) c.886C>T (p.Arg296Cys) c.535C>T (p.Arg179Cys) | gnomAD v4 COSMIC |
19 | g.6495748G>C | CA403591165 | TUBB4A | c.751C>G (p.Arg251Gly) c.439C>G (p.Arg147Gly) c.904C>G (p.Arg302Gly) c.886C>G (p.Arg296Gly) c.535C>G (p.Arg179Gly) | gnomAD v4 |
19 | g.6495748G>T | CA403591168 | TUBB4A | c.751C>A (p.Arg251Ser) c.439C>A (p.Arg147Ser) c.904C>A (p.Arg302Ser) c.886C>A (p.Arg296Ser) c.535C>A (p.Arg179Ser) | gnomAD v4 |
19 | g.6495749C>A | CA505189863 | TUBB4A | c.750G>T (p.Leu250=) c.438G>T (p.Leu146=) c.903G>T (p.Leu301=) c.885G>T (p.Leu295=) c.534G>T (p.Leu178=) | |
19 | g.6495749C>G | CA505189865 | TUBB4A | c.750G>C (p.Leu250=) c.438G>C (p.Leu146=) c.903G>C (p.Leu301=) c.885G>C (p.Leu295=) c.534G>C (p.Leu178=) | |
19 | g.6495749C>T | CA505189867 | TUBB4A | c.750G>A (p.Leu250=) c.438G>A (p.Leu146=) c.903G>A (p.Leu301=) c.885G>A (p.Leu295=) c.534G>A (p.Leu178=) | gnomAD v4 |
19 | g.6495750A>C | CA403591170 | TUBB4A | c.749T>G (p.Leu250Arg) c.437T>G (p.Leu146Arg) c.902T>G (p.Leu301Arg) c.884T>G (p.Leu295Arg) c.533T>G (p.Leu178Arg) | |
19 | g.6495750A>G | CA403591173 | TUBB4A | c.749T>C (p.Leu250Pro) c.437T>C (p.Leu146Pro) c.902T>C (p.Leu301Pro) c.884T>C (p.Leu295Pro) c.533T>C (p.Leu178Pro) | |
19 | g.6495750A>T | CA403591175 | TUBB4A | c.749T>A (p.Leu250Gln) c.437T>A (p.Leu146Gln) c.902T>A (p.Leu301Gln) c.884T>A (p.Leu295Gln) c.533T>A (p.Leu178Gln) | |
19 | g.6495751G>A | CA505189872 | TUBB4A | c.748C>T (p.Leu250=) c.436C>T (p.Leu146=) c.901C>T (p.Leu301=) c.883C>T (p.Leu295=) c.532C>T (p.Leu178=) | |
19 | g.6495751G>C | CA403591178 | TUBB4A | c.748C>G (p.Leu250Val) c.436C>G (p.Leu146Val) c.901C>G (p.Leu301Val) c.883C>G (p.Leu295Val) c.532C>G (p.Leu178Val) | |
19 | g.6495751G>T | CA403591181 | TUBB4A | c.748C>A (p.Leu250Met) c.436C>A (p.Leu146Met) c.901C>A (p.Leu301Met) c.883C>A (p.Leu295Met) c.532C>A (p.Leu178Met) | |
19 | g.6495752G>A | CA505189873 | TUBB4A | c.747C>T (p.Asp249=) c.435C>T (p.Asp145=) c.900C>T (p.Asp300=) c.882C>T (p.Asp294=) c.531C>T (p.Asp177=) | |
19 | g.6495752G>C | CA403591183 | TUBB4A | c.747C>G (p.Asp249Glu) c.435C>G (p.Asp145Glu) c.900C>G (p.Asp300Glu) c.882C>G (p.Asp294Glu) c.531C>G (p.Asp177Glu) | |
19 | g.6495752G>T | CA403591185 | TUBB4A | c.747C>A (p.Asp249Glu) c.435C>A (p.Asp145Glu) c.900C>A (p.Asp300Glu) c.882C>A (p.Asp294Glu) c.531C>A (p.Asp177Glu) | |
19 | g.6495753T>A | CA403591187 | TUBB4A | c.746A>T (p.Asp249Val) c.434A>T (p.Asp145Val) c.899A>T (p.Asp300Val) c.881A>T (p.Asp294Val) c.530A>T (p.Asp177Val) | |
19 | g.6495753T>C | CA403591191 | TUBB4A | c.746A>G (p.Asp249Gly) c.434A>G (p.Asp145Gly) c.899A>G (p.Asp300Gly) c.881A>G (p.Asp294Gly) c.530A>G (p.Asp177Gly) | |
19 | g.6495753T>G | CA403591189 | TUBB4A | c.746A>C (p.Asp249Ala) c.434A>C (p.Asp145Ala) c.899A>C (p.Asp300Ala) c.881A>C (p.Asp294Ala) c.530A>C (p.Asp177Ala) | |
19 | g.6495754C>A | CA403591194 | TUBB4A | c.745G>T (p.Asp249Tyr) c.433G>T (p.Asp145Tyr) c.898G>T (p.Asp300Tyr) c.880G>T (p.Asp294Tyr) c.529G>T (p.Asp177Tyr) | |
19 | g.6495754C= | CA2320458683 | TUBB4A | c.745G= (p.Asp249=) c.433G= (p.Asp145=) c.898G= (p.Asp300=) c.880G= (p.Asp294=) c.529G= (p.Asp177=) | |
19 | g.6495754C>G | CA403591197 | TUBB4A | c.745G>C (p.Asp249His) c.433G>C (p.Asp145His) c.898G>C (p.Asp300His) c.880G>C (p.Asp294His) c.529G>C (p.Asp177His) | |
19 | g.6495754C>T | CA143913 | TUBB4A | c.745G>A (p.Asp249Asn) c.433G>A (p.Asp145Asn) c.898G>A (p.Asp300Asn) c.880G>A (p.Asp294Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP |