Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49185844C>A | CA384641993 | TUBA1A | c.522G>T (p.Ala174=) c.417G>T (p.Ala139=) n.1555G>T c.545G>T (p.Arg182Leu) c.674G>T (p.Arg225Leu) | |
12 | g.49185844C= | CA2035023063 | TUBA1A | c.522G= (p.Ala174=) c.417G= (p.Ala139=) n.1555G= c.545G= (p.Arg182=) c.674G= (p.Arg225=) | |
12 | g.49185844C>G | CA384641994 | TUBA1A | c.522G>C (p.Ala174=) c.417G>C (p.Ala139=) n.1555G>C c.545G>C (p.Arg182Pro) c.674G>C (p.Arg225Pro) | |
12 | g.49185844C>T | CA173760 | TUBA1A | c.522G>A (p.Ala174=) c.417G>A (p.Ala139=) n.1555G>A c.545G>A (p.Arg182His) c.674G>A (p.Arg225His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185845G>A | CA213271 | TUBA1A | c.521C>T (p.Ala174Val) c.416C>T (p.Ala139Val) n.1554C>T c.544C>T (p.Arg182Cys) c.673C>T (p.Arg225Cys) | ClinVar dbSNP |
12 | g.49185845G>C | CA384641999 | TUBA1A | c.521C>G (p.Ala174Gly) c.416C>G (p.Ala139Gly) n.1554C>G c.544C>G (p.Arg182Gly) c.673C>G (p.Arg225Gly) | |
12 | g.49185845G= | CA2035023068 | TUBA1A | c.521C= (p.Ala174=) c.416C= (p.Ala139=) n.1554C= c.544C= (p.Arg182=) c.673C= (p.Arg225=) | |
12 | g.49185845G>T | CA384642000 | TUBA1A | c.521C>A (p.Ala174Glu) c.416C>A (p.Ala139Glu) n.1554C>A c.544C>A (p.Arg182Ser) c.673C>A (p.Arg225Ser) | |
12 | g.49185846C>A | CA384642003 | TUBA1A | c.520G>T (p.Ala174Ser) c.415G>T (p.Ala139Ser) n.1553G>T c.543G>T (p.Arg181=) c.672G>T (p.Arg224=) | |
12 | g.49185846C= | CA2035023072 | TUBA1A | c.520G= (p.Ala174=) c.415G= (p.Ala139=) n.1553G= c.543G= (p.Arg181=) c.672G= (p.Arg224=) | |
12 | g.49185846C>G | CA384642005 | TUBA1A | c.520G>C (p.Ala174Pro) c.415G>C (p.Ala139Pro) n.1553G>C c.543G>C (p.Arg181=) c.672G>C (p.Arg224=) | ClinVar dbSNP |
12 | g.49185846C>T | CA384642008 | TUBA1A | c.520G>A (p.Ala174Thr) c.415G>A (p.Ala139Thr) n.1553G>A c.543G>A (p.Arg181=) c.672G>A (p.Arg224=) | |
12 | g.49185847C>A | CA384642011 | TUBA1A | c.519G>T (p.Pro173=) c.414G>T (p.Pro138=) n.1552G>T c.542G>T (p.Arg181Leu) c.671G>T (p.Arg224Leu) | |
12 | g.49185847C= | CA2035023077 | TUBA1A | c.519G= (p.Pro173=) c.414G= (p.Pro138=) n.1552G= c.542G= (p.Arg181=) c.671G= (p.Arg224=) | |
12 | g.49185847C>G | CA384642013 | TUBA1A | c.519G>C (p.Pro173=) c.414G>C (p.Pro138=) n.1552G>C c.542G>C (p.Arg181Pro) c.671G>C (p.Arg224Pro) | gnomAD v4 |
12 | g.49185847C>T | CA236622660 | TUBA1A | c.519G>A (p.Pro173=) c.414G>A (p.Pro138=) n.1552G>A c.542G>A (p.Arg181Gln) c.671G>A (p.Arg224Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185848G>A | CA384642016 | TUBA1A | c.518C>T (p.Pro173Leu) c.413C>T (p.Pro138Leu) n.1551C>T c.541C>T (p.Arg181Trp) c.670C>T (p.Arg224Trp) | ClinVar dbSNP |
12 | g.49185848G>C | CA384642019 | TUBA1A | c.518C>G (p.Pro173Arg) c.413C>G (p.Pro138Arg) n.1551C>G c.541C>G (p.Arg181Gly) c.670C>G (p.Arg224Gly) | |
12 | g.49185848G= | CA2035023082 | TUBA1A | c.518C= (p.Pro173=) c.413C= (p.Pro138=) n.1551C= c.541C= (p.Arg181=) c.670C= (p.Arg224=) | |
12 | g.49185848G>T | CA384642021 | TUBA1A | c.518C>A (p.Pro173Gln) c.413C>A (p.Pro138Gln) n.1551C>A c.541C>A (p.Arg181=) c.670C>A (p.Arg224=) | |
12 | g.49185849G>A | CA384642030 | TUBA1A | c.517C>T (p.Pro173Ser) c.412C>T (p.Pro138Ser) n.1550C>T c.540C>T (p.Thr180=) c.669C>T (p.Thr223=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49185849G>C | CA384642024 | TUBA1A | c.517C>G (p.Pro173Ala) c.412C>G (p.Pro138Ala) n.1550C>G c.540C>G (p.Thr180=) c.669C>G (p.Thr223=) | |
12 | g.49185849G= | CA2035023087 | TUBA1A | c.517C= (p.Pro173=) c.412C= (p.Pro138=) n.1550C= c.540C= (p.Thr180=) c.669C= (p.Thr223=) | |
12 | g.49185849G>T | CA384642027 | TUBA1A | c.517C>A (p.Pro173Thr) c.412C>A (p.Pro138Thr) n.1550C>A c.540C>A (p.Thr180=) c.669C>A (p.Thr223=) | |
12 | g.49185850G>A | CA236622664 | TUBA1A | c.516C>T (p.Tyr172=) c.411C>T (p.Tyr137=) n.1549C>T c.539C>T (p.Thr180Ile) c.668C>T (p.Thr223Ile) | dbSNP gnomAD v4 |
12 | g.49185850G>C | CA384642034 | TUBA1A | c.516C>G (p.Tyr172Ter) c.411C>G (p.Tyr137Ter) n.1549C>G c.539C>G (p.Thr180Ser) c.668C>G (p.Thr223Ser) | |
12 | g.49185850G= | CA2035023090 | TUBA1A | c.516C= (p.Tyr172=) c.411C= (p.Tyr137=) n.1549C= c.539C= (p.Thr180=) c.668C= (p.Thr223=) | |
12 | g.49185850G>T | CA384642036 | TUBA1A | c.516C>A (p.Tyr172Ter) c.411C>A (p.Tyr137Ter) n.1549C>A c.539C>A (p.Thr180Asn) c.668C>A (p.Thr223Asn) | |
12 | g.49185851T>A | CA384642040 | TUBA1A | c.515A>T (p.Tyr172Phe) c.410A>T (p.Tyr137Phe) n.1548A>T c.538A>T (p.Thr180Ser) c.667A>T (p.Thr223Ser) | |
12 | g.49185851T>C | CA384642042 | TUBA1A | c.515A>G (p.Tyr172Cys) c.410A>G (p.Tyr137Cys) n.1548A>G c.538A>G (p.Thr180Ala) c.667A>G (p.Thr223Ala) | |
12 | g.49185851T>G | CA384642044 | TUBA1A | c.515A>C (p.Tyr172Ser) c.410A>C (p.Tyr137Ser) n.1548A>C c.538A>C (p.Thr180Pro) c.667A>C (p.Thr223Pro) | |
12 | g.49185852A>C | CA384642047 | TUBA1A | c.514T>G (p.Tyr172Asp) c.409T>G (p.Tyr137Asp) n.1547T>G c.537T>G (p.Phe179Leu) c.666T>G (p.Phe222Leu) | |
12 | g.49185852A>G | CA384642049 | TUBA1A | c.514T>C (p.Tyr172His) c.409T>C (p.Tyr137His) n.1547T>C c.537T>C (p.Phe179=) c.666T>C (p.Phe222=) | |
12 | g.49185852A>T | CA384642053 | TUBA1A | c.514T>A (p.Tyr172Asn) c.409T>A (p.Tyr137Asn) n.1547T>A c.537T>A (p.Phe179Leu) c.666T>A (p.Phe222Leu) | |
12 | g.49185853A>C | CA384642056 | TUBA1A | c.513T>G (p.Ile171Met) c.408T>G (p.Ile136Met) n.1546T>G c.536T>G (p.Phe179Cys) c.665T>G (p.Phe222Cys) | |
12 | g.49185853A>G | CA384642057 | TUBA1A | c.513T>C (p.Ile171=) c.408T>C (p.Ile136=) n.1546T>C c.536T>C (p.Phe179Ser) c.665T>C (p.Phe222Ser) | |
12 | g.49185853A>T | CA384642061 | TUBA1A | c.513T>A (p.Ile171=) c.408T>A (p.Ile136=) n.1546T>A c.536T>A (p.Phe179Tyr) c.665T>A (p.Phe222Tyr) | |
12 | g.49185854A>C | CA384642070 | TUBA1A | c.512T>G (p.Ile171Ser) c.407T>G (p.Ile136Ser) n.1545T>G c.535T>G (p.Phe179Val) c.664T>G (p.Phe222Val) | |
12 | g.49185854A>G | CA384642067 | TUBA1A | c.512T>C (p.Ile171Thr) c.407T>C (p.Ile136Thr) n.1545T>C c.535T>C (p.Phe179Leu) c.664T>C (p.Phe222Leu) | |
12 | g.49185854A>T | CA384642064 | TUBA1A | c.512T>A (p.Ile171Asn) c.407T>A (p.Ile136Asn) n.1545T>A c.535T>A (p.Phe179Ile) c.664T>A (p.Phe222Ile) | |
12 | g.49185855T>A | CA384642072 | TUBA1A | c.511A>T (p.Ile171Phe) c.406A>T (p.Ile136Phe) n.1544A>T c.534A>T (p.Leu178=) c.663A>T (p.Leu221=) | |
12 | g.49185855T>C | CA384642078 | TUBA1A | c.511A>G (p.Ile171Val) c.406A>G (p.Ile136Val) n.1544A>G c.534A>G (p.Leu178=) c.663A>G (p.Leu221=) | |
12 | g.49185855T>G | CA384642075 | TUBA1A | c.511A>C (p.Ile171Leu) c.406A>C (p.Ile136Leu) n.1544A>C c.534A>C (p.Leu178=) c.663A>C (p.Leu221=) | |
12 | g.49185856A= | CA2035023092 | TUBA1A | c.510T= (p.Ser170=) c.405T= (p.Ser135=) n.1543T= c.533T= (p.Leu178=) c.662T= (p.Leu221=) | |
12 | g.49185856A>C | CA384642082 | TUBA1A | c.510T>G (p.Ser170=) c.405T>G (p.Ser135=) n.1543T>G c.533T>G (p.Leu178Arg) c.662T>G (p.Leu221Arg) | dbSNP |
12 | g.49185856A>G | CA173758 | TUBA1A | c.510T>C (p.Ser170=) c.405T>C (p.Ser135=) n.1543T>C c.533T>C (p.Leu178Pro) c.662T>C (p.Leu221Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185856A>T | CA384642086 | TUBA1A | c.510T>A (p.Ser170=) c.405T>A (p.Ser135=) n.1543T>A c.533T>A (p.Leu178Gln) c.662T>A (p.Leu221Gln) | |
12 | g.49185857G>A | CA384642089 | TUBA1A | c.509C>T (p.Ser170Phe) c.404C>T (p.Ser135Phe) n.1542C>T c.532C>T (p.Leu178=) c.661C>T (p.Leu221=) | |
12 | g.49185857G>C | CA384642091 | TUBA1A | c.509C>G (p.Ser170Cys) c.404C>G (p.Ser135Cys) n.1542C>G c.532C>G (p.Leu178Val) c.661C>G (p.Leu221Val) | |
12 | g.49185857G>T | CA384642093 | TUBA1A | c.509C>A (p.Ser170Tyr) c.404C>A (p.Ser135Tyr) n.1542C>A c.532C>A (p.Leu178Ile) c.661C>A (p.Leu221Ile) | |
12 | g.49185858A>C | CA384642095 | TUBA1A | c.508T>G (p.Ser170Ala) c.403T>G (p.Ser135Ala) n.1541T>G c.531T>G (p.Ser177=) c.660T>G (p.Ser220=) | |
12 | g.49185858A>G | CA384642098 | TUBA1A | c.508T>C (p.Ser170Pro) c.403T>C (p.Ser135Pro) n.1541T>C c.531T>C (p.Ser177=) c.660T>C (p.Ser220=) | |
12 | g.49185858A>T | CA384642100 | TUBA1A | c.508T>A (p.Ser170Thr) c.403T>A (p.Ser135Thr) n.1541T>A c.531T>A (p.Ser177=) c.660T>A (p.Ser220=) | |
12 | g.49185859G>A | CA384642104 | TUBA1A | c.507C>T (p.Phe169=) c.402C>T (p.Phe134=) n.1540C>T c.530C>T (p.Ser177Phe) c.659C>T (p.Ser220Phe) | gnomAD v4 |
12 | g.49185859G>C | CA384642105 | TUBA1A | c.507C>G (p.Phe169Leu) c.402C>G (p.Phe134Leu) n.1540C>G c.530C>G (p.Ser177Cys) c.659C>G (p.Ser220Cys) | |
12 | g.49185859G>T | CA384642106 | TUBA1A | c.507C>A (p.Phe169Leu) c.402C>A (p.Phe134Leu) n.1540C>A c.530C>A (p.Ser177Tyr) c.659C>A (p.Ser220Tyr) | |
12 | g.49185860A>C | CA384642108 | TUBA1A | c.506T>G (p.Phe169Cys) c.401T>G (p.Phe134Cys) n.1539T>G c.529T>G (p.Ser177Ala) c.658T>G (p.Ser220Ala) | |
12 | g.49185860A>G | CA384642112 | TUBA1A | c.506T>C (p.Phe169Ser) c.401T>C (p.Phe134Ser) n.1539T>C c.529T>C (p.Ser177Pro) c.658T>C (p.Ser220Pro) | |
12 | g.49185860A>T | CA384642110 | TUBA1A | c.506T>A (p.Phe169Tyr) c.401T>A (p.Phe134Tyr) n.1539T>A c.529T>A (p.Ser177Thr) c.658T>A (p.Ser220Thr) | |
12 | g.49185861A>C | CA384642116 | TUBA1A | c.505T>G (p.Phe169Val) c.400T>G (p.Phe134Val) n.1538T>G c.528T>G (p.Ser176Arg) c.657T>G (p.Ser219Arg) | |
12 | g.49185861A>G | CA384642118 | TUBA1A | c.505T>C (p.Phe169Leu) c.400T>C (p.Phe134Leu) n.1538T>C c.528T>C (p.Ser176=) c.657T>C (p.Ser219=) | |
12 | g.49185861A>T | CA384642121 | TUBA1A | c.505T>A (p.Phe169Ile) c.400T>A (p.Phe134Ile) n.1538T>A c.528T>A (p.Ser176Arg) c.657T>A (p.Ser219Arg) | |
12 | g.49185862C>A | CA384642124 | TUBA1A | c.504G>T (p.Glu168Asp) c.399G>T (p.Glu133Asp) n.1537G>T c.527G>T (p.Ser176Ile) c.656G>T (p.Ser219Ile) | |
12 | g.49185862C= | CA2035023098 | TUBA1A | c.504G= (p.Glu168=) c.399G= (p.Glu133=) n.1537G= c.527G= (p.Ser176=) c.656G= (p.Ser219=) | |
12 | g.49185862C>G | CA384642125 | TUBA1A | c.504G>C (p.Glu168Asp) c.399G>C (p.Glu133Asp) n.1537G>C c.527G>C (p.Ser176Thr) c.656G>C (p.Ser219Thr) | |
12 | g.49185862C>T | CA6550244 | TUBA1A | c.504G>A (p.Glu168=) c.399G>A (p.Glu133=) n.1537G>A c.527G>A (p.Ser176Asn) c.656G>A (p.Ser219Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185863T>A | CA384642129 | TUBA1A | c.503A>T (p.Glu168Val) c.398A>T (p.Glu133Val) n.1536A>T c.526A>T (p.Ser176Cys) c.655A>T (p.Ser219Cys) | |
12 | g.49185863T>C | CA384642132 | TUBA1A | c.503A>G (p.Glu168Gly) c.398A>G (p.Glu133Gly) n.1536A>G c.526A>G (p.Ser176Gly) c.655A>G (p.Ser219Gly) | |
12 | g.49185863T>G | CA384642134 | TUBA1A | c.503A>C (p.Glu168Ala) c.398A>C (p.Glu133Ala) n.1536A>C c.526A>C (p.Ser176Arg) c.655A>C (p.Ser219Arg) | |
12 | g.49185864C>A | CA384642140 | TUBA1A | c.502G>T (p.Glu168Ter) c.397G>T (p.Glu133Ter) n.1535G>T c.525G>T (p.Trp175Cys) c.654G>T (p.Trp218Cys) | |
12 | g.49185864C>G | CA384642143 | TUBA1A | c.502G>C (p.Glu168Gln) c.397G>C (p.Glu133Gln) n.1535G>C c.525G>C (p.Trp175Cys) c.654G>C (p.Trp218Cys) | |
12 | g.49185864C>T | CA384642137 | TUBA1A | c.502G>A (p.Glu168Lys) c.397G>A (p.Glu133Lys) n.1535G>A c.525G>A (p.Trp175Ter) c.654G>A (p.Trp218Ter) | |
12 | g.49185865C>A | CA384642149 | TUBA1A | c.501G>T (p.Leu167=) c.396G>T (p.Leu132=) n.1534G>T c.524G>T (p.Trp175Leu) c.653G>T (p.Trp218Leu) | |
12 | g.49185865C>G | CA384642150 | TUBA1A | c.501G>C (p.Leu167=) c.396G>C (p.Leu132=) n.1534G>C c.524G>C (p.Trp175Ser) c.653G>C (p.Trp218Ser) | |
12 | g.49185865C>T | CA384642152 | TUBA1A | c.501G>A (p.Leu167=) c.396G>A (p.Leu132=) n.1534G>A c.524G>A (p.Trp175Ter) c.653G>A (p.Trp218Ter) | |
12 | g.49185866A>C | CA384642154 | TUBA1A | c.500T>G (p.Leu167Arg) c.395T>G (p.Leu132Arg) n.1533T>G c.523T>G (p.Trp175Gly) c.652T>G (p.Trp218Gly) | |
12 | g.49185866A>G | CA384642157 | TUBA1A | c.500T>C (p.Leu167Pro) c.395T>C (p.Leu132Pro) n.1533T>C c.523T>C (p.Trp175Arg) c.652T>C (p.Trp218Arg) | |
12 | g.49185866A>T | CA384642160 | TUBA1A | c.500T>A (p.Leu167Gln) c.395T>A (p.Leu132Gln) n.1533T>A c.523T>A (p.Trp175Arg) c.652T>A (p.Trp218Arg) | |
12 | g.49185867G>A | CA479717398 | TUBA1A | c.499C>T (p.Leu167=) c.394C>T (p.Leu132=) n.1532C>T c.522C>T (p.Ser174=) c.651C>T (p.Ser217=) | gnomAD v4 |
12 | g.49185867G>C | CA384642166 | TUBA1A | c.499C>G (p.Leu167Val) c.394C>G (p.Leu132Val) n.1532C>G c.522C>G (p.Ser174Arg) c.651C>G (p.Ser217Arg) | |
12 | g.49185867G>T | CA384642164 | TUBA1A | c.499C>A (p.Leu167Met) c.394C>A (p.Leu132Met) n.1532C>A c.522C>A (p.Ser174Arg) c.651C>A (p.Ser217Arg) | |
12 | g.49185868C>A | CA384642168 | TUBA1A | c.498G>T (p.Lys166Asn) c.393G>T (p.Lys131Asn) n.1531G>T c.521G>T (p.Ser174Ile) c.650G>T (p.Ser217Ile) | |
12 | g.49185868C>G | CA384642171 | TUBA1A | c.498G>C (p.Lys166Asn) c.393G>C (p.Lys131Asn) n.1531G>C c.521G>C (p.Ser174Thr) c.650G>C (p.Ser217Thr) | |
12 | g.49185868C>T | CA384642174 | TUBA1A | c.498G>A (p.Lys166=) c.393G>A (p.Lys131=) n.1531G>A c.521G>A (p.Ser174Asn) c.650G>A (p.Ser217Asn) | |
12 | g.49185869T>A | CA384642177 | TUBA1A | c.497A>T (p.Lys166Met) c.392A>T (p.Lys131Met) n.1530A>T c.520A>T (p.Ser174Cys) c.649A>T (p.Ser217Cys) | |
12 | g.49185869T>C | CA384642179 | TUBA1A | c.497A>G (p.Lys166Arg) c.392A>G (p.Lys131Arg) n.1530A>G c.520A>G (p.Ser174Gly) c.649A>G (p.Ser217Gly) | |
12 | g.49185869T>G | CA384642181 | TUBA1A | c.497A>C (p.Lys166Thr) c.392A>C (p.Lys131Thr) n.1530A>C c.520A>C (p.Ser174Arg) c.649A>C (p.Ser217Arg) | |
12 | g.49185870T>A | CA384642184 | TUBA1A | c.496A>T (p.Lys166Ter) c.391A>T (p.Lys131Ter) n.1529A>T c.519A>T (p.Pro173=) c.648A>T (p.Pro216=) | |
12 | g.49185870T>C | CA384642189 | TUBA1A | c.496A>G (p.Lys166Glu) c.391A>G (p.Lys131Glu) n.1529A>G c.519A>G (p.Pro173=) c.648A>G (p.Pro216=) | |
12 | g.49185870T>G | CA384642186 | TUBA1A | c.496A>C (p.Lys166Gln) c.391A>C (p.Lys131Gln) n.1529A>C c.519A>C (p.Pro173=) c.648A>C (p.Pro216=) | |
12 | g.49185871G>A | CA384642192 | TUBA1A | c.495C>T (p.Ser165=) c.390C>T (p.Ser130=) n.1528C>T c.518C>T (p.Pro173Leu) c.647C>T (p.Pro216Leu) | gnomAD v4 |
12 | g.49185871G>C | CA384642195 | TUBA1A | c.495C>G (p.Ser165=) c.390C>G (p.Ser130=) n.1528C>G c.518C>G (p.Pro173Arg) c.647C>G (p.Pro216Arg) | |
12 | g.49185871G>T | CA384642199 | TUBA1A | c.495C>A (p.Ser165=) c.390C>A (p.Ser130=) n.1528C>A c.518C>A (p.Pro173Gln) c.647C>A (p.Pro216Gln) | |
12 | g.49185872G>A | CA384642203 | TUBA1A | c.494C>T (p.Ser165Phe) c.389C>T (p.Ser130Phe) n.1527C>T c.517C>T (p.Pro173Ser) c.646C>T (p.Pro216Ser) | |
12 | g.49185872G>C | CA384642205 | TUBA1A | c.494C>G (p.Ser165Cys) c.389C>G (p.Ser130Cys) n.1527C>G c.517C>G (p.Pro173Ala) c.646C>G (p.Pro216Ala) | |
12 | g.49185872G>T | CA384642208 | TUBA1A | c.494C>A (p.Ser165Tyr) c.389C>A (p.Ser130Tyr) n.1527C>A c.517C>A (p.Pro173Thr) c.646C>A (p.Pro216Thr) | |
12 | g.49185873A>C | CA384642210 | TUBA1A | c.493T>G (p.Ser165Ala) c.388T>G (p.Ser130Ala) n.1526T>G c.516T>G (p.Ser172Arg) c.645T>G (p.Ser215Arg) | |
12 | g.49185873A>G | CA384642213 | TUBA1A | c.493T>C (p.Ser165Pro) c.388T>C (p.Ser130Pro) n.1526T>C c.516T>C (p.Ser172=) c.645T>C (p.Ser215=) | |
12 | g.49185873A>T | CA384642215 | TUBA1A | c.493T>A (p.Ser165Thr) c.388T>A (p.Ser130Thr) n.1526T>A c.516T>A (p.Ser172Arg) c.645T>A (p.Ser215Arg) | |
12 | g.49185874C>A | CA384642219 | TUBA1A | c.492G>T (p.Lys164Asn) c.387G>T (p.Lys129Asn) n.1525G>T c.515G>T (p.Ser172Ile) c.644G>T (p.Ser215Ile) | |
12 | g.49185874C= | CA2035023103 | TUBA1A | c.492G= (p.Lys164=) c.387G= (p.Lys129=) n.1525G= c.515G= (p.Ser172=) c.644G= (p.Ser215=) | |
12 | g.49185874C>G | CA384642221 | TUBA1A | c.492G>C (p.Lys164Asn) c.387G>C (p.Lys129Asn) n.1525G>C c.515G>C (p.Ser172Thr) c.644G>C (p.Ser215Thr) | |
12 | g.49185874C>T | CA6550245 | TUBA1A | c.492G>A (p.Lys164=) c.387G>A (p.Lys129=) n.1525G>A c.515G>A (p.Ser172Asn) c.644G>A (p.Ser215Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185875T>A | CA384642227 | TUBA1A | c.491A>T (p.Lys164Met) c.386A>T (p.Lys129Met) n.1524A>T c.514A>T (p.Ser172Cys) c.643A>T (p.Ser215Cys) | |
12 | g.49185875T>C | CA384642230 | TUBA1A | c.491A>G (p.Lys164Arg) c.386A>G (p.Lys129Arg) n.1524A>G c.514A>G (p.Ser172Gly) c.643A>G (p.Ser215Gly) | COSMIC |
12 | g.49185875T>G | CA384642225 | TUBA1A | c.491A>C (p.Lys164Thr) c.386A>C (p.Lys129Thr) n.1524A>C c.514A>C (p.Ser172Arg) c.643A>C (p.Ser215Arg) | COSMIC |
12 | g.49185876del | CA2575146020 | TUBA1A | c.491del (p.Lys164SerfsTer18) c.386del (p.Lys129SerfsTer18) n.1524del c.514del (p.Ser172ValfsTer19) c.643del (p.Ser215ValfsTer19) | |
12 | g.49185876T>A | CA384642237 | TUBA1A | c.490A>T (p.Lys164Ter) c.385A>T (p.Lys129Ter) n.1523A>T c.513A>T (p.Arg171Ser) c.642A>T (p.Arg214Ser) | |
12 | g.49185876T>C | CA384642234 | TUBA1A | c.490A>G (p.Lys164Glu) c.385A>G (p.Lys129Glu) n.1523A>G c.513A>G (p.Arg171=) c.642A>G (p.Arg214=) | |
12 | g.49185876T>G | CA384642239 | TUBA1A | c.490A>C (p.Lys164Gln) c.385A>C (p.Lys129Gln) n.1523A>C c.513A>C (p.Arg171Ser) c.642A>C (p.Arg214Ser) | |
12 | g.49185877del | CA2580617843 | TUBA1A | c.489del (p.Lys164SerfsTer18) c.384del (p.Lys129SerfsTer18) n.1522del c.512del (p.Arg171LysfsTer20) c.641del (p.Arg214LysfsTer20) | ClinVar |
12 | g.49185877C>A | CA384642241 | TUBA1A | c.489G>T (p.Lys163Asn) c.384G>T (p.Lys128Asn) n.1522G>T c.512G>T (p.Arg171Ile) c.641G>T (p.Arg214Ile) | |
12 | g.49185877C>G | CA384642244 | TUBA1A | c.489G>C (p.Lys163Asn) c.384G>C (p.Lys128Asn) n.1522G>C c.512G>C (p.Arg171Thr) c.641G>C (p.Arg214Thr) | |
12 | g.49185877C>T | CA384642246 | TUBA1A | c.489G>A (p.Lys163=) c.384G>A (p.Lys128=) n.1522G>A c.512G>A (p.Arg171Lys) c.641G>A (p.Arg214Lys) | |
12 | g.49185878T>A | CA384642249 | TUBA1A | c.488A>T (p.Lys163Met) c.383A>T (p.Lys128Met) n.1521A>T c.511A>T (p.Arg171Ter) c.640A>T (p.Arg214Ter) | |
12 | g.49185878T>C | CA384642253 | TUBA1A | c.488A>G (p.Lys163Arg) c.383A>G (p.Lys128Arg) n.1521A>G c.511A>G (p.Arg171Gly) c.640A>G (p.Arg214Gly) | |
12 | g.49185878T>G | CA384642256 | TUBA1A | c.488A>C (p.Lys163Thr) c.383A>C (p.Lys128Thr) n.1521A>C c.511A>C (p.Arg171=) c.640A>C (p.Arg214=) | |
12 | g.49185879T>A | CA384642258 | TUBA1A | c.487A>T (p.Lys163Ter) c.382A>T (p.Lys128Ter) n.1520A>T c.510A>T (p.Ala170=) c.639A>T (p.Ala213=) | |
12 | g.49185879T>C | CA384642260 | TUBA1A | c.487A>G (p.Lys163Glu) c.382A>G (p.Lys128Glu) n.1520A>G c.510A>G (p.Ala170=) c.639A>G (p.Ala213=) | |
12 | g.49185879T>G | CA384642263 | TUBA1A | c.487A>C (p.Lys163Gln) c.382A>C (p.Lys128Gln) n.1520A>C c.510A>C (p.Ala170=) c.639A>C (p.Ala213=) | |
12 | g.49185880G>A | CA384642266 | TUBA1A | c.486C>T (p.Gly162=) c.381C>T (p.Gly127=) n.1519C>T c.509C>T (p.Ala170Val) c.638C>T (p.Ala213Val) | |
12 | g.49185880G>C | CA384642270 | TUBA1A | c.486C>G (p.Gly162=) c.381C>G (p.Gly127=) n.1519C>G c.509C>G (p.Ala170Gly) c.638C>G (p.Ala213Gly) | gnomAD v4 |
12 | g.49185880G>T | CA384642272 | TUBA1A | c.486C>A (p.Gly162=) c.381C>A (p.Gly127=) n.1519C>A c.509C>A (p.Ala170Glu) c.638C>A (p.Ala213Glu) | |
12 | g.49185881C>A | CA384642281 | TUBA1A | c.485G>T (p.Gly162Val) c.380G>T (p.Gly127Val) n.1518G>T c.508G>T (p.Ala170Ser) c.637G>T (p.Ala213Ser) | ClinVar dbSNP |
12 | g.49185881C>G | CA384642275 | TUBA1A | c.485G>C (p.Gly162Ala) c.380G>C (p.Gly127Ala) n.1518G>C c.508G>C (p.Ala170Pro) c.637G>C (p.Ala213Pro) | |
12 | g.49185881C>T | CA384642278 | TUBA1A | c.485G>A (p.Gly162Asp) c.380G>A (p.Gly127Asp) n.1518G>A c.508G>A (p.Ala170Thr) c.637G>A (p.Ala213Thr) | ClinVar COSMIC |
12 | g.49185882C>A | CA384642283 | TUBA1A | c.484G>T (p.Gly162Cys) c.379G>T (p.Gly127Cys) n.1517G>T c.507G>T (p.Met169Ile) c.636G>T (p.Met212Ile) | |
12 | g.49185882C>G | CA384642285 | TUBA1A | c.484G>C (p.Gly162Arg) c.379G>C (p.Gly127Arg) n.1517G>C c.507G>C (p.Met169Ile) c.636G>C (p.Met212Ile) | |
12 | g.49185882C>T | CA384642288 | TUBA1A | c.484G>A (p.Gly162Ser) c.379G>A (p.Gly127Ser) n.1517G>A c.507G>A (p.Met169Ile) c.636G>A (p.Met212Ile) | |
12 | g.49185883A= | CA2035023105 | TUBA1A | c.483T= (p.Tyr161=) c.378T= (p.Tyr126=) n.1516T= c.506T= (p.Met169=) c.635T= (p.Met212=) | |
12 | g.49185883A>C | CA384642291 | TUBA1A | c.483T>G (p.Tyr161Ter) c.378T>G (p.Tyr126Ter) n.1516T>G c.506T>G (p.Met169Arg) c.635T>G (p.Met212Arg) | |
12 | g.49185883A>G | CA384642293 | TUBA1A | c.483T>C (p.Tyr161=) c.378T>C (p.Tyr126=) n.1516T>C c.506T>C (p.Met169Thr) c.635T>C (p.Met212Thr) | dbSNP gnomAD v4 |
12 | g.49185883A>T | CA384642296 | TUBA1A | c.483T>A (p.Tyr161Ter) c.378T>A (p.Tyr126Ter) n.1516T>A c.506T>A (p.Met169Lys) c.635T>A (p.Met212Lys) | |
12 | g.49185884T>A | CA384642298 | TUBA1A | c.482A>T (p.Tyr161Phe) c.377A>T (p.Tyr126Phe) n.1515A>T c.505A>T (p.Met169Leu) c.634A>T (p.Met212Leu) | |
12 | g.49185884T>C | CA384642301 | TUBA1A | c.482A>G (p.Tyr161Cys) c.377A>G (p.Tyr126Cys) n.1515A>G c.505A>G (p.Met169Val) c.634A>G (p.Met212Val) | |
12 | g.49185884T>G | CA384642303 | TUBA1A | c.482A>C (p.Tyr161Ser) c.377A>C (p.Tyr126Ser) n.1515A>C c.505A>C (p.Met169Leu) c.634A>C (p.Met212Leu) | |
12 | g.49185885A= | CA2035023110 | TUBA1A | c.481T= (p.Tyr161=) c.376T= (p.Tyr126=) n.1514T= c.504T= (p.Ile168=) c.633T= (p.Ile211=) | |
12 | g.49185885A>C | CA213269 | TUBA1A | c.481T>G (p.Tyr161Asp) c.376T>G (p.Tyr126Asp) n.1514T>G c.504T>G (p.Ile168Met) c.633T>G (p.Ile211Met) | ClinVar dbSNP |
12 | g.49185885A>G | CA384642308 | TUBA1A | c.481T>C (p.Tyr161His) c.376T>C (p.Tyr126His) n.1514T>C c.504T>C (p.Ile168=) c.633T>C (p.Ile211=) | ClinVar dbSNP |
12 | g.49185885A>T | CA384642311 | TUBA1A | c.481T>A (p.Tyr161Asn) c.376T>A (p.Tyr126Asn) n.1514T>A c.504T>A (p.Ile168=) c.633T>A (p.Ile211=) | |
12 | g.49185886A>C | CA384642318 | TUBA1A | c.480T>G (p.Asp160Glu) c.375T>G (p.Asp125Glu) n.1513T>G c.503T>G (p.Ile168Ser) c.632T>G (p.Ile211Ser) | |
12 | g.49185886A>G | CA384642317 | TUBA1A | c.480T>C (p.Asp160=) c.375T>C (p.Asp125=) n.1513T>C c.503T>C (p.Ile168Thr) c.632T>C (p.Ile211Thr) | |
12 | g.49185886A>T | CA384642314 | TUBA1A | c.480T>A (p.Asp160Glu) c.375T>A (p.Asp125Glu) n.1513T>A c.503T>A (p.Ile168Asn) c.632T>A (p.Ile211Asn) | |
12 | g.49185887T>A | CA384642329 | TUBA1A | c.479A>T (p.Asp160Val) c.374A>T (p.Asp125Val) n.1512A>T c.502A>T (p.Ile168Phe) c.631A>T (p.Ile211Phe) | |
12 | g.49185887T>C | CA384642322 | TUBA1A | c.479A>G (p.Asp160Gly) c.374A>G (p.Asp125Gly) n.1512A>G c.502A>G (p.Ile168Val) c.631A>G (p.Ile211Val) | |
12 | g.49185887T>G | CA384642327 | TUBA1A | c.479A>C (p.Asp160Ala) c.374A>C (p.Asp125Ala) n.1512A>C c.502A>C (p.Ile168Leu) c.631A>C (p.Ile211Leu) | |
12 | g.49185888C>A | CA384642332 | TUBA1A | c.478G>T (p.Asp160Tyr) c.373G>T (p.Asp125Tyr) n.1511G>T c.501G>T (p.Leu167Phe) c.630G>T (p.Leu210Phe) | |
12 | g.49185888C>G | CA384642335 | TUBA1A | c.478G>C (p.Asp160His) c.373G>C (p.Asp125His) n.1511G>C c.501G>C (p.Leu167Phe) c.630G>C (p.Leu210Phe) | |
12 | g.49185888C>T | CA384642337 | TUBA1A | c.478G>A (p.Asp160Asn) c.373G>A (p.Asp125Asn) n.1511G>A c.501G>A (p.Leu167=) c.630G>A (p.Leu210=) | |
12 | g.49185889A>C | CA384642346 | TUBA1A | c.477T>G (p.Val159=) c.372T>G (p.Val124=) n.1510T>G c.500T>G (p.Leu167Trp) c.629T>G (p.Leu210Trp) | |
12 | g.49185889A>G | CA384642343 | TUBA1A | c.477T>C (p.Val159=) c.372T>C (p.Val124=) n.1510T>C c.500T>C (p.Leu167Ser) c.629T>C (p.Leu210Ser) | gnomAD v4 |
12 | g.49185889A>T | CA384642340 | TUBA1A | c.477T>A (p.Val159=) c.372T>A (p.Val124=) n.1510T>A c.500T>A (p.Leu167Ter) c.629T>A (p.Leu210Ter) | |
12 | g.49185890A>C | CA384642350 | TUBA1A | c.476T>G (p.Val159Gly) c.371T>G (p.Val124Gly) n.1509T>G c.499T>G (p.Leu167Val) c.628T>G (p.Leu210Val) | |
12 | g.49185890A>G | CA384642353 | TUBA1A | c.476T>C (p.Val159Ala) c.371T>C (p.Val124Ala) n.1509T>C c.499T>C (p.Leu167=) c.628T>C (p.Leu210=) | |
12 | g.49185890A>T | CA384642355 | TUBA1A | c.476T>A (p.Val159Asp) c.371T>A (p.Val124Asp) n.1509T>A c.499T>A (p.Leu167Met) c.628T>A (p.Leu210Met) | |
12 | g.49185891C>A | CA384642359 | TUBA1A | c.475G>T (p.Val159Phe) c.370G>T (p.Val124Phe) n.1508G>T c.498G>T (p.Gln166His) c.627G>T (p.Gln209His) | |
12 | g.49185891C>G | CA384642361 | TUBA1A | c.475G>C (p.Val159Leu) c.370G>C (p.Val124Leu) n.1508G>C c.498G>C (p.Gln166His) c.627G>C (p.Gln209His) | |
12 | g.49185891C>T | CA384642363 | TUBA1A | c.475G>A (p.Val159Ile) c.370G>A (p.Val124Ile) n.1508G>A c.498G>A (p.Gln166=) c.627G>A (p.Gln209=) | |
12 | g.49185892T>A | CA384642367 | TUBA1A | c.474A>T (p.Ser158=) c.369A>T (p.Ser123=) n.1507A>T c.497A>T (p.Gln166Leu) c.626A>T (p.Gln209Leu) | |
12 | g.49185892T>C | CA384642371 | TUBA1A | c.474A>G (p.Ser158=) c.369A>G (p.Ser123=) n.1507A>G c.497A>G (p.Gln166Arg) c.626A>G (p.Gln209Arg) | |
12 | g.49185892T>G | CA384642370 | TUBA1A | c.474A>C (p.Ser158=) c.369A>C (p.Ser123=) n.1507A>C c.497A>C (p.Gln166Pro) c.626A>C (p.Gln209Pro) | |
12 | g.49185893G>A | CA384642375 | TUBA1A | c.473C>T (p.Ser158Leu) c.368C>T (p.Ser123Leu) n.1506C>T c.496C>T (p.Gln166Ter) c.625C>T (p.Gln209Ter) | ClinVar dbSNP |
12 | g.49185893G>C | CA384642378 | TUBA1A | c.473C>G (p.Ser158Ter) c.368C>G (p.Ser123Ter) n.1506C>G c.496C>G (p.Gln166Glu) c.625C>G (p.Gln209Glu) | |
12 | g.49185893G= | CA2035023112 | TUBA1A | c.473C= (p.Ser158=) c.368C= (p.Ser123=) n.1506C= c.496C= (p.Gln166=) c.625C= (p.Gln209=) | |
12 | g.49185893G>T | CA384642381 | TUBA1A | c.473C>A (p.Ser158Ter) c.368C>A (p.Ser123Ter) n.1506C>A c.496C>A (p.Gln166Lys) c.625C>A (p.Gln209Lys) | |
12 | g.49185894A>C | CA384642384 | TUBA1A | c.472T>G (p.Ser158Ala) c.367T>G (p.Ser123Ala) n.1505T>G c.495T>G (p.Ser165=) c.624T>G (p.Ser208=) | |
12 | g.49185894A>G | CA384642387 | TUBA1A | c.472T>C (p.Ser158Pro) c.367T>C (p.Ser123Pro) n.1505T>C c.495T>C (p.Ser165=) c.624T>C (p.Ser208=) | |
12 | g.49185894A>T | CA384642390 | TUBA1A | c.472T>A (p.Ser158Thr) c.367T>A (p.Ser123Thr) n.1505T>A c.495T>A (p.Ser165=) c.624T>A (p.Ser208=) | |
12 | g.49185895G>A | CA6550246 | TUBA1A | c.471C>T (p.Leu157=) c.366C>T (p.Leu122=) n.1504C>T c.494C>T (p.Ser165Phe) c.623C>T (p.Ser208Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185895G>C | CA384642393 | TUBA1A | c.471C>G (p.Leu157=) c.366C>G (p.Leu122=) n.1504C>G c.494C>G (p.Ser165Cys) c.623C>G (p.Ser208Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185895G= | CA2035023117 | TUBA1A | c.471C= (p.Leu157=) c.366C= (p.Leu122=) n.1504C= c.494C= (p.Ser165=) c.623C= (p.Ser208=) | |
12 | g.49185895G>T | CA384642394 | TUBA1A | c.471C>A (p.Leu157=) c.366C>A (p.Leu122=) n.1504C>A c.494C>A (p.Ser165Tyr) c.623C>A (p.Ser208Tyr) | |
12 | g.49185896A>C | CA384642397 | TUBA1A | c.470T>G (p.Leu157Arg) c.365T>G (p.Leu122Arg) n.1503T>G c.493T>G (p.Ser165Ala) c.622T>G (p.Ser208Ala) | |
12 | g.49185896A>G | CA384642398 | TUBA1A | c.470T>C (p.Leu157Pro) c.365T>C (p.Leu122Pro) n.1503T>C c.493T>C (p.Ser165Pro) c.622T>C (p.Ser208Pro) | |
12 | g.49185896A>T | CA384642400 | TUBA1A | c.470T>A (p.Leu157His) c.365T>A (p.Leu122His) n.1503T>A c.493T>A (p.Ser165Thr) c.622T>A (p.Ser208Thr) | |
12 | g.49185897G>A | CA384642405 | TUBA1A | c.469C>T (p.Leu157Phe) c.364C>T (p.Leu122Phe) n.1502C>T c.492C>T (p.Val164=) c.621C>T (p.Val207=) | |
12 | g.49185897G>C | CA384642408 | TUBA1A | c.469C>G (p.Leu157Val) c.364C>G (p.Leu122Val) n.1502C>G c.492C>G (p.Val164=) c.621C>G (p.Val207=) | |
12 | g.49185897G>T | CA384642403 | TUBA1A | c.469C>A (p.Leu157Ile) c.364C>A (p.Leu122Ile) n.1502C>A c.492C>A (p.Val164=) c.621C>A (p.Val207=) | |
12 | g.49185898A= | CA2035023120 | TUBA1A | c.468T= (p.Arg156=) c.363T= (p.Arg121=) n.1501T= c.491T= (p.Val164=) c.620T= (p.Val207=) | |
12 | g.49185898A>C | CA384642412 | TUBA1A | c.468T>G (p.Arg156=) c.363T>G (p.Arg121=) n.1501T>G c.491T>G (p.Val164Gly) c.620T>G (p.Val207Gly) | |
12 | g.49185898A>G | CA384642413 | TUBA1A | c.468T>C (p.Arg156=) c.363T>C (p.Arg121=) n.1501T>C c.491T>C (p.Val164Ala) c.620T>C (p.Val207Ala) | |
12 | g.49185898A>T | CA384642415 | TUBA1A | c.468T>A (p.Arg156=) c.363T>A (p.Arg121=) n.1501T>A c.491T>A (p.Val164Asp) c.620T>A (p.Val207Asp) | dbSNP gnomAD v4 |
12 | g.49185899C>A | CA384642417 | TUBA1A | c.467G>T (p.Arg156Leu) c.362G>T (p.Arg121Leu) n.1500G>T c.490G>T (p.Val164Phe) c.619G>T (p.Val207Phe) | |
12 | g.49185899C= | CA2035023124 | TUBA1A | c.467G= (p.Arg156=) c.362G= (p.Arg121=) n.1500G= c.490G= (p.Val164=) c.619G= (p.Val207=) | |
12 | g.49185899C>G | CA384642419 | TUBA1A | c.467G>C (p.Arg156Pro) c.362G>C (p.Arg121Pro) n.1500G>C c.490G>C (p.Val164Leu) c.619G>C (p.Val207Leu) | |
12 | g.49185899C>T | CA384642420 | TUBA1A | c.467G>A (p.Arg156His) c.362G>A (p.Arg121His) n.1500G>A c.490G>A (p.Val164Ile) c.619G>A (p.Val207Ile) | ClinVar dbSNP COSMIC |
12 | g.49185900G>A | CA384642427 | TUBA1A | c.466C>T (p.Arg156Cys) c.361C>T (p.Arg121Cys) n.1499C>T c.489C>T (p.Asn163=) c.618C>T (p.Asn206=) | |
12 | g.49185900G>C | CA384642425 | TUBA1A | c.466C>G (p.Arg156Gly) c.361C>G (p.Arg121Gly) n.1499C>G c.489C>G (p.Asn163Lys) c.618C>G (p.Asn206Lys) | |
12 | g.49185900G>T | CA384642423 | TUBA1A | c.466C>A (p.Arg156Ser) c.361C>A (p.Arg121Ser) n.1499C>A c.489C>A (p.Asn163Lys) c.618C>A (p.Asn206Lys) | |
12 | g.49185901T>A | CA384642430 | TUBA1A | c.465A>T (p.Glu155Asp) c.360A>T (p.Glu120Asp) n.1498A>T c.488A>T (p.Asn163Ile) c.617A>T (p.Asn206Ile) | |
12 | g.49185901T>C | CA384642433 | TUBA1A | c.465A>G (p.Glu155=) c.360A>G (p.Glu120=) n.1498A>G c.488A>G (p.Asn163Ser) c.617A>G (p.Asn206Ser) | gnomAD v4 |
12 | g.49185901T>G | CA384642435 | TUBA1A | c.465A>C (p.Glu155Asp) c.360A>C (p.Glu120Asp) n.1498A>C c.488A>C (p.Asn163Thr) c.617A>C (p.Asn206Thr) | |
12 | g.49185902T>A | CA384642438 | TUBA1A | c.464A>T (p.Glu155Val) c.359A>T (p.Glu120Val) n.1497A>T c.487A>T (p.Asn163Tyr) c.616A>T (p.Asn206Tyr) | |
12 | g.49185902T>C | CA384642441 | TUBA1A | c.464A>G (p.Glu155Gly) c.359A>G (p.Glu120Gly) n.1497A>G c.487A>G (p.Asn163Asp) c.616A>G (p.Asn206Asp) | |
12 | g.49185902T>G | CA384642444 | TUBA1A | c.464A>C (p.Glu155Ala) c.359A>C (p.Glu120Ala) n.1497A>C c.487A>C (p.Asn163His) c.616A>C (p.Asn206His) | |
12 | g.49185903C>A | CA384642448 | TUBA1A | c.463G>T (p.Glu155Ter) c.358G>T (p.Glu120Ter) n.1496G>T c.486G>T (p.Trp162Cys) c.615G>T (p.Trp205Cys) | |
12 | g.49185903C>G | CA384642452 | TUBA1A | c.463G>C (p.Glu155Gln) c.358G>C (p.Glu120Gln) n.1496G>C c.486G>C (p.Trp162Cys) c.615G>C (p.Trp205Cys) | |
12 | g.49185903C>T | CA384642449 | TUBA1A | c.463G>A (p.Glu155Lys) c.358G>A (p.Glu120Lys) n.1496G>A c.486G>A (p.Trp162Ter) c.615G>A (p.Trp205Ter) | |
12 | g.49185904C>A | CA384642459 | TUBA1A | c.462G>T (p.Met154Ile) c.357G>T (p.Met119Ile) n.1495G>T c.485G>T (p.Trp162Leu) c.614G>T (p.Trp205Leu) | |
12 | g.49185904C>G | CA384642462 | TUBA1A | c.462G>C (p.Met154Ile) c.357G>C (p.Met119Ile) n.1495G>C c.485G>C (p.Trp162Ser) c.614G>C (p.Trp205Ser) | |
12 | g.49185904C>T | CA384642464 | TUBA1A | c.462G>A (p.Met154Ile) c.357G>A (p.Met119Ile) n.1495G>A c.485G>A (p.Trp162Ter) c.614G>A (p.Trp205Ter) | |
12 | g.49185905A>C | CA384642466 | TUBA1A | c.461T>G (p.Met154Arg) c.356T>G (p.Met119Arg) n.1494T>G c.484T>G (p.Trp162Gly) c.613T>G (p.Trp205Gly) | |
12 | g.49185905A>G | CA384642468 | TUBA1A | c.461T>C (p.Met154Thr) c.356T>C (p.Met119Thr) n.1494T>C c.484T>C (p.Trp162Arg) c.613T>C (p.Trp205Arg) | |
12 | g.49185905A>T | CA384642470 | TUBA1A | c.461T>A (p.Met154Lys) c.356T>A (p.Met119Lys) n.1494T>A c.484T>A (p.Trp162Arg) c.613T>A (p.Trp205Arg) | |
12 | g.49185906T>A | CA384642472 | TUBA1A | c.460A>T (p.Met154Leu) c.355A>T (p.Met119Leu) n.1493A>T c.483A>T (p.Ser161=) c.612A>T (p.Ser204=) | |
12 | g.49185906T>C | CA384642473 | TUBA1A | c.460A>G (p.Met154Val) c.355A>G (p.Met119Val) n.1493A>G c.483A>G (p.Ser161=) c.612A>G (p.Ser204=) | |
12 | g.49185906T>G | CA384642475 | TUBA1A | c.460A>C (p.Met154Leu) c.355A>C (p.Met119Leu) n.1493A>C c.483A>C (p.Ser161=) c.612A>C (p.Ser204=) | |
12 | g.49185907G>A | CA384642477 | TUBA1A | c.459C>T (p.Leu153=) c.354C>T (p.Leu118=) n.1492C>T c.482C>T (p.Ser161Leu) c.611C>T (p.Ser204Leu) | |
12 | g.49185907G>C | CA384642479 | TUBA1A | c.459C>G (p.Leu153=) c.354C>G (p.Leu118=) n.1492C>G c.482C>G (p.Ser161Ter) c.611C>G (p.Ser204Ter) | |
12 | g.49185907G>T | CA384642480 | TUBA1A | c.459C>A (p.Leu153=) c.354C>A (p.Leu118=) n.1492C>A c.482C>A (p.Ser161Ter) c.611C>A (p.Ser204Ter) | |
12 | g.49185908A>C | CA384642483 | TUBA1A | c.458T>G (p.Leu153Arg) c.353T>G (p.Leu118Arg) n.1491T>G c.481T>G (p.Ser161Ala) c.610T>G (p.Ser204Ala) | |
12 | g.49185908A>G | CA384642486 | TUBA1A | c.458T>C (p.Leu153Pro) c.353T>C (p.Leu118Pro) n.1491T>C c.481T>C (p.Ser161Pro) c.610T>C (p.Ser204Pro) | |
12 | g.49185908A>T | CA384642484 | TUBA1A | c.458T>A (p.Leu153His) c.353T>A (p.Leu118His) n.1491T>A c.481T>A (p.Ser161Thr) c.610T>A (p.Ser204Thr) | |
12 | g.49185909G>A | CA384642487 | TUBA1A | c.457C>T (p.Leu153Phe) c.352C>T (p.Leu118Phe) n.1490C>T c.480C>T (p.Cys160=) c.609C>T (p.Cys203=) | |
12 | g.49185909G>C | CA384642488 | TUBA1A | c.457C>G (p.Leu153Val) c.352C>G (p.Leu118Val) n.1490C>G c.480C>G (p.Cys160Trp) c.609C>G (p.Cys203Trp) | |
12 | g.49185909G>T | CA384642490 | TUBA1A | c.457C>A (p.Leu153Ile) c.352C>A (p.Leu118Ile) n.1490C>A c.480C>A (p.Cys160Ter) c.609C>A (p.Cys203Ter) | |
12 | g.49185910C>A | CA384642492 | TUBA1A | c.456G>T (p.Leu152=) c.351G>T (p.Leu117=) n.1489G>T c.479G>T (p.Cys160Phe) c.608G>T (p.Cys203Phe) | |
12 | g.49185910C= | CA2035023127 | TUBA1A | c.456G= (p.Leu152=) c.351G= (p.Leu117=) n.1489G= c.479G= (p.Cys160=) c.608G= (p.Cys203=) | |
12 | g.49185910C>G | CA384642494 | TUBA1A | c.456G>C (p.Leu152=) c.351G>C (p.Leu117=) n.1489G>C c.479G>C (p.Cys160Ser) c.608G>C (p.Cys203Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49185910C>T | CA384642497 | TUBA1A | c.456G>A (p.Leu152=) c.351G>A (p.Leu117=) n.1489G>A c.479G>A (p.Cys160Tyr) c.608G>A (p.Cys203Tyr) | gnomAD v4 |
12 | g.49185911A= | CA2035023133 | TUBA1A | c.455T= (p.Leu152=) c.350T= (p.Leu117=) n.1488T= c.478T= (p.Cys160=) c.607T= (p.Cys203=) | |
12 | g.49185911A>C | CA384642499 | TUBA1A | c.455T>G (p.Leu152Arg) c.350T>G (p.Leu117Arg) n.1488T>G c.478T>G (p.Cys160Gly) c.607T>G (p.Cys203Gly) | |
12 | g.49185911A>G | CA384642501 | TUBA1A | c.455T>C (p.Leu152Pro) c.350T>C (p.Leu117Pro) n.1488T>C c.478T>C (p.Cys160Arg) c.607T>C (p.Cys203Arg) | |
12 | g.49185911A>T | CA16606634 | TUBA1A | c.455T>A (p.Leu152Gln) c.350T>A (p.Leu117Gln) n.1488T>A c.478T>A (p.Cys160Ser) c.607T>A (p.Cys203Ser) | ClinVar dbSNP |
12 | g.49185912G>A | CA479717458 | TUBA1A | c.454C>T (p.Leu152=) c.349C>T (p.Leu117=) n.1487C>T c.477C>T (p.Arg159=) c.606C>T (p.Arg202=) | |
12 | g.49185912G>C | CA384642505 | TUBA1A | c.454C>G (p.Leu152Val) c.349C>G (p.Leu117Val) n.1487C>G c.477C>G (p.Arg159=) c.606C>G (p.Arg202=) | |
12 | g.49185912G>T | CA384642510 | TUBA1A | c.454C>A (p.Leu152Met) c.349C>A (p.Leu117Met) n.1487C>A c.477C>A (p.Arg159=) c.606C>A (p.Arg202=) | |
12 | g.49185913C>A | CA384642515 | TUBA1A | c.453G>T (p.Ser151=) c.348G>T (p.Ser116=) n.1486G>T c.476G>T (p.Arg159Leu) c.605G>T (p.Arg202Leu) | |
12 | g.49185913C= | CA2035023146 | TUBA1A | c.453G= (p.Ser151=) c.348G= (p.Ser116=) n.1486G= c.476G= (p.Arg159=) c.605G= (p.Arg202=) | |
12 | g.49185913C>G | CA173756 | TUBA1A | c.453G>C (p.Ser151=) c.348G>C (p.Ser116=) n.1486G>C c.476G>C (p.Arg159Pro) c.605G>C (p.Arg202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49185913C>T | CA6550247 | TUBA1A | c.453G>A (p.Ser151=) c.348G>A (p.Ser116=) n.1486G>A c.476G>A (p.Arg159His) c.605G>A (p.Arg202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185914G>A | CA384642517 | TUBA1A | c.452C>T (p.Ser151Leu) c.347C>T (p.Ser116Leu) n.1485C>T c.475C>T (p.Arg159Cys) c.604C>T (p.Arg202Cys) | |
12 | g.49185914G>C | CA384642520 | TUBA1A | c.452C>G (p.Ser151Trp) c.347C>G (p.Ser116Trp) n.1485C>G c.475C>G (p.Arg159Gly) c.604C>G (p.Arg202Gly) | |
12 | g.49185914G>T | CA384642522 | TUBA1A | c.452C>A (p.Ser151Ter) c.347C>A (p.Ser116Ter) n.1485C>A c.475C>A (p.Arg159Ser) c.604C>A (p.Arg202Ser) | |
12 | g.49185915A>C | CA384642524 | TUBA1A | c.451T>G (p.Ser151Ala) c.346T>G (p.Ser116Ala) n.1484T>G c.474T>G (p.Pro158=) c.603T>G (p.Pro201=) | |
12 | g.49185915A>G | CA384642526 | TUBA1A | c.451T>C (p.Ser151Pro) c.346T>C (p.Ser116Pro) n.1484T>C c.474T>C (p.Pro158=) c.603T>C (p.Pro201=) | |
12 | g.49185915A>T | CA384642529 | TUBA1A | c.451T>A (p.Ser151Thr) c.346T>A (p.Ser116Thr) n.1484T>A c.474T>A (p.Pro158=) c.603T>A (p.Pro201=) | |
12 | g.49185916G>A | CA384642531 | TUBA1A | c.450C>T (p.Thr150=) c.345C>T (p.Thr115=) n.1483C>T c.473C>T (p.Pro158Leu) c.602C>T (p.Pro201Leu) | gnomAD v4 |
12 | g.49185916G>C | CA384642532 | TUBA1A | c.450C>G (p.Thr150=) c.345C>G (p.Thr115=) n.1483C>G c.473C>G (p.Pro158Arg) c.602C>G (p.Pro201Arg) | |
12 | g.49185916G>T | CA384642534 | TUBA1A | c.450C>A (p.Thr150=) c.345C>A (p.Thr115=) n.1483C>A c.473C>A (p.Pro158His) c.602C>A (p.Pro201His) | |
12 | g.49185917G>A | CA384642536 | TUBA1A | c.449C>T (p.Thr150Ile) c.344C>T (p.Thr115Ile) n.1482C>T c.472C>T (p.Pro158Ser) c.601C>T (p.Pro201Ser) | ClinVar dbSNP |
12 | g.49185917G>C | CA384642538 | TUBA1A | c.449C>G (p.Thr150Ser) c.344C>G (p.Thr115Ser) n.1482C>G c.472C>G (p.Pro158Ala) c.601C>G (p.Pro201Ala) | |
12 | g.49185917G= | CA2035023152 | TUBA1A | c.449C= (p.Thr150=) c.344C= (p.Thr115=) n.1482C= c.472C= (p.Pro158=) c.601C= (p.Pro201=) | |
12 | g.49185917G>T | CA384642540 | TUBA1A | c.449C>A (p.Thr150Asn) c.344C>A (p.Thr115Asn) n.1482C>A c.472C>A (p.Pro158Thr) c.601C>A (p.Pro201Thr) | |
12 | g.49185918T>A | CA384642546 | TUBA1A | c.448A>T (p.Thr150Ser) c.343A>T (p.Thr115Ser) n.1481A>T c.471A>T (p.Ser157=) c.600A>T (p.Ser200=) | |
12 | g.49185918T>C | CA384642545 | TUBA1A | c.448A>G (p.Thr150Ala) c.343A>G (p.Thr115Ala) n.1481A>G c.471A>G (p.Ser157=) c.600A>G (p.Ser200=) | |
12 | g.49185918T>G | CA384642543 | TUBA1A | c.448A>C (p.Thr150Pro) c.343A>C (p.Thr115Pro) n.1481A>C c.471A>C (p.Ser157=) c.600A>C (p.Ser200=) | |
12 | g.49185919G>A | CA384642548 | TUBA1A | c.447C>T (p.Phe149=) c.342C>T (p.Phe114=) n.1480C>T c.470C>T (p.Ser157Leu) c.599C>T (p.Ser200Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49185919G>C | CA384642551 | TUBA1A | c.447C>G (p.Phe149Leu) c.342C>G (p.Phe114Leu) n.1480C>G c.470C>G (p.Ser157Ter) c.599C>G (p.Ser200Ter) | |
12 | g.49185919G= | CA2035023157 | TUBA1A | c.447C= (p.Phe149=) c.342C= (p.Phe114=) n.1480C= c.470C= (p.Ser157=) c.599C= (p.Ser200=) | |
12 | g.49185919G>T | CA384642549 | TUBA1A | c.447C>A (p.Phe149Leu) c.342C>A (p.Phe114Leu) n.1480C>A c.470C>A (p.Ser157Ter) c.599C>A (p.Ser200Ter) | |
12 | g.49185920A>C | CA384642553 | TUBA1A | c.446T>G (p.Phe149Cys) c.341T>G (p.Phe114Cys) n.1479T>G c.469T>G (p.Ser157Ala) c.598T>G (p.Ser200Ala) | |
12 | g.49185920A>G | CA384642557 | TUBA1A | c.446T>C (p.Phe149Ser) c.341T>C (p.Phe114Ser) n.1479T>C c.469T>C (p.Ser157Pro) c.598T>C (p.Ser200Pro) | |
12 | g.49185920A>T | CA384642555 | TUBA1A | c.446T>A (p.Phe149Tyr) c.341T>A (p.Phe114Tyr) n.1479T>A c.469T>A (p.Ser157Thr) c.598T>A (p.Ser200Thr) | |
12 | g.49185921A>C | CA384642559 | TUBA1A | c.445T>G (p.Phe149Val) c.340T>G (p.Phe114Val) n.1478T>G c.468T>G (p.Gly156=) c.597T>G (p.Gly199=) | |
12 | g.49185921A>G | CA384642561 | TUBA1A | c.445T>C (p.Phe149Leu) c.340T>C (p.Phe114Leu) n.1478T>C c.468T>C (p.Gly156=) c.597T>C (p.Gly199=) | |
12 | g.49185921A>T | CA384642562 | TUBA1A | c.445T>A (p.Phe149Ile) c.340T>A (p.Phe114Ile) n.1478T>A c.468T>A (p.Gly156=) c.597T>A (p.Gly199=) | |
12 | g.49185922C>A | CA384642565 | TUBA1A | c.444G>T (p.Gly148=) c.339G>T (p.Gly113=) n.1477G>T c.467G>T (p.Gly156Val) c.596G>T (p.Gly199Val) | |
12 | g.49185922C= | CA2035023163 | TUBA1A | c.444G= (p.Gly148=) c.339G= (p.Gly113=) n.1477G= c.467G= (p.Gly156=) c.596G= (p.Gly199=) | |
12 | g.49185922C>G | CA384642567 | TUBA1A | c.444G>C (p.Gly148=) c.339G>C (p.Gly113=) n.1477G>C c.467G>C (p.Gly156Ala) c.596G>C (p.Gly199Ala) | |
12 | g.49185922C>T | CA384642568 | TUBA1A | c.444G>A (p.Gly148=) c.339G>A (p.Gly113=) n.1477G>A c.467G>A (p.Gly156Asp) c.596G>A (p.Gly199Asp) | dbSNP |
12 | g.49185923C>A | CA384642571 | TUBA1A | c.443G>T (p.Gly148Val) c.338G>T (p.Gly113Val) n.1476G>T c.466G>T (p.Gly156Cys) c.595G>T (p.Gly199Cys) | |
12 | g.49185923C>G | CA384642573 | TUBA1A | c.443G>C (p.Gly148Ala) c.338G>C (p.Gly113Ala) n.1476G>C c.466G>C (p.Gly156Arg) c.595G>C (p.Gly199Arg) | |
12 | g.49185923C>T | CA384642576 | TUBA1A | c.443G>A (p.Gly148Glu) c.338G>A (p.Gly113Glu) n.1476G>A c.466G>A (p.Gly156Ser) c.595G>A (p.Gly199Ser) | |
12 | g.49185924C>A | CA384642582 | TUBA1A | c.442G>T (p.Gly148Trp) c.337G>T (p.Gly113Trp) n.1475G>T c.465G>T (p.Leu155=) c.594G>T (p.Leu198=) | |
12 | g.49185924C>G | CA384642584 | TUBA1A | c.442G>C (p.Gly148Arg) c.337G>C (p.Gly113Arg) n.1475G>C c.465G>C (p.Leu155=) c.594G>C (p.Leu198=) | |
12 | g.49185924C>T | CA384642585 | TUBA1A | c.442G>A (p.Gly148Arg) c.337G>A (p.Gly113Arg) n.1475G>A c.465G>A (p.Leu155=) c.594G>A (p.Leu198=) | ClinVar dbSNP |
12 | g.49185925A>C | CA384642588 | TUBA1A | c.441T>G (p.Ser147=) c.336T>G (p.Ser112=) n.1474T>G c.464T>G (p.Leu155Arg) c.593T>G (p.Leu198Arg) | |
12 | g.49185925A>G | CA384642592 | TUBA1A | c.441T>C (p.Ser147=) c.336T>C (p.Ser112=) n.1474T>C c.464T>C (p.Leu155Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
12 | g.49185925A>T | CA384642590 | TUBA1A | c.441T>A (p.Ser147=) c.336T>A (p.Ser112=) n.1474T>A c.464T>A (p.Leu155Gln) c.593T>A (p.Leu198Gln) | |
12 | g.49185926G>A | CA384642597 | TUBA1A | c.440C>T (p.Ser147Phe) c.335C>T (p.Ser112Phe) n.1473C>T c.463C>T (p.Leu155=) c.592C>T (p.Leu198=) | |
12 | g.49185926G>C | CA384642599 | TUBA1A | c.440C>G (p.Ser147Cys) c.335C>G (p.Ser112Cys) n.1473C>G c.463C>G (p.Leu155Val) c.592C>G (p.Leu198Val) | |
12 | g.49185926G>T | CA384642601 | TUBA1A | c.440C>A (p.Ser147Tyr) c.335C>A (p.Ser112Tyr) n.1473C>A c.463C>A (p.Leu155Met) c.592C>A (p.Leu198Met) | |
12 | g.49185927A>C | CA384642608 | TUBA1A | c.439T>G (p.Ser147Ala) c.334T>G (p.Ser112Ala) n.1472T>G c.462T>G (p.Val154=) c.591T>G (p.Val197=) | |
12 | g.49185927A>G | CA384642610 | TUBA1A | c.439T>C (p.Ser147Pro) c.334T>C (p.Ser112Pro) n.1472T>C c.462T>C (p.Val154=) c.591T>C (p.Val197=) | |
12 | g.49185927A>T | CA384642611 | TUBA1A | c.439T>A (p.Ser147Thr) c.334T>A (p.Ser112Thr) n.1472T>A c.462T>A (p.Val154=) c.591T>A (p.Val197=) | |
12 | g.49185928A= | CA2035023165 | TUBA1A | c.438T= (p.Gly146=) c.333T= (p.Gly111=) n.1471T= c.461T= (p.Val154=) c.590T= (p.Val197=) | |
12 | g.49185928A>C | CA6550248 | TUBA1A | c.438T>G (p.Gly146=) c.333T>G (p.Gly111=) n.1471T>G c.461T>G (p.Val154Gly) c.590T>G (p.Val197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185928A>G | CA384642614 | TUBA1A | c.438T>C (p.Gly146=) c.333T>C (p.Gly111=) n.1471T>C c.461T>C (p.Val154Ala) c.590T>C (p.Val197Ala) | |
12 | g.49185928A>T | CA384642616 | TUBA1A | c.438T>A (p.Gly146=) c.333T>A (p.Gly111=) n.1471T>A c.461T>A (p.Val154Asp) c.590T>A (p.Val197Asp) | |
12 | g.49185929C>A | CA384642621 | TUBA1A | c.437G>T (p.Gly146Val) c.332G>T (p.Gly111Val) n.1470G>T c.460G>T (p.Val154Phe) c.589G>T (p.Val197Phe) | |
12 | g.49185929C>G | CA384642620 | TUBA1A | c.437G>C (p.Gly146Ala) c.332G>C (p.Gly111Ala) n.1470G>C c.460G>C (p.Val154Leu) c.589G>C (p.Val197Leu) | |
12 | g.49185929C>T | CA384642618 | TUBA1A | c.437G>A (p.Gly146Asp) c.332G>A (p.Gly111Asp) n.1470G>A c.460G>A (p.Val154Ile) c.589G>A (p.Val197Ile) | |
12 | g.49185930C>A | CA384642622 | TUBA1A | c.436G>T (p.Gly146Cys) c.331G>T (p.Gly111Cys) n.1469G>T c.459G>T (p.Leu153=) c.588G>T (p.Leu196=) | |
12 | g.49185930C>G | CA384642623 | TUBA1A | c.436G>C (p.Gly146Arg) c.331G>C (p.Gly111Arg) n.1469G>C c.459G>C (p.Leu153=) c.588G>C (p.Leu196=) | |
12 | g.49185930C>T | CA384642626 | TUBA1A | c.436G>A (p.Gly146Ser) c.331G>A (p.Gly111Ser) n.1469G>A c.459G>A (p.Leu153=) c.588G>A (p.Leu196=) | gnomAD v4 COSMIC |
12 | g.49185931A= | CA2035023170 | TUBA1A | c.435T= (p.Thr145=) c.330T= (p.Thr110=) n.1468T= c.458T= (p.Leu153=) c.587T= (p.Leu196=) | |
12 | g.49185931A>C | CA384642628 | TUBA1A | c.435T>G (p.Thr145=) c.330T>G (p.Thr110=) n.1468T>G c.458T>G (p.Leu153Arg) c.587T>G (p.Leu196Arg) | |
12 | g.49185931A>G | CA384642631 | TUBA1A | c.435T>C (p.Thr145=) c.330T>C (p.Thr110=) n.1468T>C c.458T>C (p.Leu153Pro) c.587T>C (p.Leu196Pro) | gnomAD v4 |
12 | g.49185931A>T | CA384642633 | TUBA1A | c.435T>A (p.Thr145=) c.330T>A (p.Thr110=) n.1468T>A c.458T>A (p.Leu153Gln) c.587T>A (p.Leu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49185932G>A | CA384642634 | TUBA1A | c.434C>T (p.Thr145Ile) c.329C>T (p.Thr110Ile) n.1467C>T c.457C>T (p.Leu153=) c.586C>T (p.Leu196=) | |
12 | g.49185932G>C | CA384642635 | TUBA1A | c.434C>G (p.Thr145Ser) c.329C>G (p.Thr110Ser) n.1467C>G c.457C>G (p.Leu153Val) c.586C>G (p.Leu196Val) | |
12 | g.49185932G>T | CA384642636 | TUBA1A | c.434C>A (p.Thr145Asn) c.329C>A (p.Thr110Asn) n.1467C>A c.457C>A (p.Leu153Met) c.586C>A (p.Leu196Met) | |
12 | g.49185933T>A | CA384642637 | TUBA1A | c.433A>T (p.Thr145Ser) c.328A>T (p.Thr110Ser) n.1466A>T c.456A>T (p.Glu152Asp) c.585A>T (p.Glu195Asp) | |
12 | g.49185933T>C | CA384642638 | TUBA1A | c.433A>G (p.Thr145Ala) c.328A>G (p.Thr110Ala) n.1466A>G c.456A>G (p.Glu152=) c.585A>G (p.Glu195=) | |
12 | g.49185933T>G | CA384642642 | TUBA1A | c.433A>C (p.Thr145Pro) c.328A>C (p.Thr110Pro) n.1466A>C c.456A>C (p.Glu152Asp) c.585A>C (p.Glu195Asp) | |
12 | g.49185934T>A | CA6550249 | TUBA1A | c.432A>T (p.Gly144=) c.327A>T (p.Gly109=) n.1465A>T c.455A>T (p.Glu152Val) c.584A>T (p.Glu195Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185934T>C | CA384642646 | TUBA1A | c.432A>G (p.Gly144=) c.327A>G (p.Gly109=) n.1465A>G c.455A>G (p.Glu152Gly) c.584A>G (p.Glu195Gly) | |
12 | g.49185934T>G | CA384642647 | TUBA1A | c.432A>C (p.Gly144=) c.327A>C (p.Gly109=) n.1465A>C c.455A>C (p.Glu152Ala) c.584A>C (p.Glu195Ala) | |
12 | g.49185934T= | CA2035023172 | TUBA1A | c.432A= (p.Gly144=) c.327A= (p.Gly109=) n.1465A= c.455A= (p.Glu152=) c.584A= (p.Glu195=) | |
12 | g.49185935C>A | CA384642650 | TUBA1A | c.431G>T (p.Gly144Val) c.326G>T (p.Gly109Val) n.1464G>T c.454G>T (p.Glu152Ter) c.583G>T (p.Glu195Ter) | ClinVar dbSNP |
12 | g.49185935C>G | CA384642652 | TUBA1A | c.431G>C (p.Gly144Ala) c.326G>C (p.Gly109Ala) n.1464G>C c.454G>C (p.Glu152Gln) c.583G>C (p.Glu195Gln) | |
12 | g.49185935C>T | CA384642654 | TUBA1A | c.431G>A (p.Gly144Glu) c.326G>A (p.Gly109Glu) n.1464G>A c.454G>A (p.Glu152Lys) c.583G>A (p.Glu195Lys) | |
12 | g.49185936C>A | CA384642656 | TUBA1A | c.430G>T (p.Gly144Ter) c.325G>T (p.Gly109Ter) n.1463G>T c.453G>T (p.Gly151=) c.582G>T (p.Gly194=) | |
12 | g.49185936C>G | CA384642661 | TUBA1A | c.430G>C (p.Gly144Arg) c.325G>C (p.Gly109Arg) n.1463G>C c.453G>C (p.Gly151=) c.582G>C (p.Gly194=) | |
12 | g.49185936C>T | CA384642663 | TUBA1A | c.430G>A (p.Gly144Arg) c.325G>A (p.Gly109Arg) n.1463G>A c.453G>A (p.Gly151=) c.582G>A (p.Gly194=) | |
12 | g.49185937C>A | CA384642665 | TUBA1A | c.429G>T (p.Gly143=) c.324G>T (p.Gly108=) n.1462G>T c.452G>T (p.Gly151Val) c.581G>T (p.Gly194Val) | |
12 | g.49185937C>G | CA384642667 | TUBA1A | c.429G>C (p.Gly143=) c.324G>C (p.Gly108=) n.1462G>C c.452G>C (p.Gly151Ala) c.581G>C (p.Gly194Ala) | |
12 | g.49185937C>T | CA384642669 | TUBA1A | c.429G>A (p.Gly143=) c.324G>A (p.Gly108=) n.1462G>A c.452G>A (p.Gly151Glu) c.581G>A (p.Gly194Glu) | dbSNP |
12 | g.49185938C>A | CA384642671 | TUBA1A | c.428G>T (p.Gly143Val) c.323G>T (p.Gly108Val) n.1461G>T c.451G>T (p.Gly151Trp) c.580G>T (p.Gly194Trp) | |
12 | g.49185938C>G | CA384642673 | TUBA1A | c.428G>C (p.Gly143Ala) c.323G>C (p.Gly108Ala) n.1461G>C c.451G>C (p.Gly151Arg) c.580G>C (p.Gly194Arg) | |
12 | g.49185938C>T | CA384642675 | TUBA1A | c.428G>A (p.Gly143Glu) c.323G>A (p.Gly108Glu) n.1461G>A c.451G>A (p.Gly151Arg) c.580G>A (p.Gly194Arg) | |
12 | g.49185939C>A | CA384642679 | TUBA1A | c.427G>T (p.Gly143Trp) c.322G>T (p.Gly108Trp) n.1460G>T c.450G>T (p.Val150=) c.579G>T (p.Val193=) | ClinVar dbSNP |
12 | g.49185939C= | CA2035023177 | TUBA1A | c.427G= (p.Gly143=) c.322G= (p.Gly108=) n.1460G= c.450G= (p.Val150=) c.579G= (p.Val193=) | |
12 | g.49185939C>G | CA384642681 | TUBA1A | c.427G>C (p.Gly143Arg) c.322G>C (p.Gly108Arg) n.1460G>C c.450G>C (p.Val150=) c.579G>C (p.Val193=) | ClinVar |
12 | g.49185939C>T | CA384642677 | TUBA1A | c.427G>A (p.Gly143Arg) c.322G>A (p.Gly108Arg) n.1460G>A c.450G>A (p.Val150=) c.579G>A (p.Val193=) | ClinVar dbSNP |
12 | g.49185940A= | CA2035023180 | TUBA1A | c.426T= (p.Gly142=) c.321T= (p.Gly107=) n.1459T= c.449T= (p.Val150=) c.578T= (p.Val193=) | |
12 | g.49185940A>C | CA384642683 | TUBA1A | c.426T>G (p.Gly142=) c.321T>G (p.Gly107=) n.1459T>G c.449T>G (p.Val150Gly) c.578T>G (p.Val193Gly) | |
12 | g.49185940A>G | CA6550250 | TUBA1A | c.426T>C (p.Gly142=) c.321T>C (p.Gly107=) n.1459T>C c.449T>C (p.Val150Ala) c.578T>C (p.Val193Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49185940A>T | CA384642686 | TUBA1A | c.426T>A (p.Gly142=) c.321T>A (p.Gly107=) n.1459T>A c.449T>A (p.Val150Glu) c.578T>A (p.Val193Glu) | |
12 | g.49185941C>A | CA384642687 | TUBA1A | c.425G>T (p.Gly142Val) c.320G>T (p.Gly107Val) n.1458G>T c.448G>T (p.Val150Leu) c.577G>T (p.Val193Leu) | |
12 | g.49185941C>G | CA384642688 | TUBA1A | c.425G>C (p.Gly142Ala) c.320G>C (p.Gly107Ala) n.1458G>C c.448G>C (p.Val150Leu) c.577G>C (p.Val193Leu) | |
12 | g.49185941C>T | CA384642689 | TUBA1A | c.425G>A (p.Gly142Asp) c.320G>A (p.Gly107Asp) n.1458G>A c.448G>A (p.Val150Met) c.577G>A (p.Val193Met) | |
12 | g.49185942C>A | CA384642692 | TUBA1A | c.424G>T (p.Gly142Cys) c.319G>T (p.Gly107Cys) n.1457G>T c.447G>T (p.Leu149Phe) c.576G>T (p.Leu192Phe) | ClinVar dbSNP |
12 | g.49185942C= | CA2035023186 | TUBA1A | c.424G= (p.Gly142=) c.319G= (p.Gly107=) n.1457G= c.447G= (p.Leu149=) c.576G= (p.Leu192=) | |
12 | g.49185942C>G | CA384642690 | TUBA1A | c.424G>C (p.Gly142Arg) c.319G>C (p.Gly107Arg) n.1457G>C c.447G>C (p.Leu149Phe) c.576G>C (p.Leu192Phe) | |
12 | g.49185942C>T | CA384642691 | TUBA1A | c.424G>A (p.Gly142Ser) c.319G>A (p.Gly107Ser) n.1457G>A c.447G>A (p.Leu149=) c.576G>A (p.Leu192=) | ClinVar dbSNP |
12 | g.49185943A>C | CA384642693 | TUBA1A | c.423T>G (p.Phe141Leu) c.318T>G (p.Phe106Leu) n.1456T>G c.446T>G (p.Leu149Trp) c.575T>G (p.Leu192Trp) | |
12 | g.49185943A>G | CA384642694 | TUBA1A | c.423T>C (p.Phe141=) c.318T>C (p.Phe106=) n.1456T>C c.446T>C (p.Leu149Ser) c.575T>C (p.Leu192Ser) | |
12 | g.49185943A>T | CA384642695 | TUBA1A | c.423T>A (p.Phe141Leu) c.318T>A (p.Phe106Leu) n.1456T>A c.446T>A (p.Leu149Ter) c.575T>A (p.Leu192Ter) | |
12 | g.49185944A>C | CA384642696 | TUBA1A | c.422T>G (p.Phe141Cys) c.317T>G (p.Phe106Cys) n.1455T>G c.445T>G (p.Leu149Val) c.574T>G (p.Leu192Val) | |
12 | g.49185944A>G | CA384642697 | TUBA1A | c.422T>C (p.Phe141Ser) c.317T>C (p.Phe106Ser) n.1455T>C c.445T>C (p.Leu149=) c.574T>C (p.Leu192=) | |
12 | g.49185944A>T | CA384642698 | TUBA1A | c.422T>A (p.Phe141Tyr) c.317T>A (p.Phe106Tyr) n.1455T>A c.445T>A (p.Leu149Met) c.574T>A (p.Leu192Met) |