Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49185816delCA2618625232TUBA1Ac.552del (p.Tyr185ThrfsTer20)
c.447del (p.Tyr150ThrfsTer20)
n.1585del
c.*8del (n.*8del)
 gnomAD v4
12g.49185815G>ACA384641813TUBA1Ac.551C>T (p.Pro184Leu)
c.446C>T (p.Pro149Leu)
n.1584C>T
c.*7C>T (n.*7C>T)
12g.49185815G>CCA384641814TUBA1Ac.551C>G (p.Pro184Arg)
c.446C>G (p.Pro149Arg)
n.1584C>G
c.*7C>G (n.*7C>G)
12g.49185815G>TCA384641815TUBA1Ac.551C>A (p.Pro184His)
c.446C>A (p.Pro149His)
n.1584C>A
c.*7C>A (n.*7C>A)
12g.49185816G>ACA384641816TUBA1Ac.550C>T (p.Pro184Ser)
c.445C>T (p.Pro149Ser)
n.1583C>T
c.*6C>T (n.*6C>T)
12g.49185816G>CCA384641819TUBA1Ac.550C>G (p.Pro184Ala)
c.445C>G (p.Pro149Ala)
n.1583C>G
c.*6C>G (n.*6C>G)
12g.49185816G>TCA384641820TUBA1Ac.550C>A (p.Pro184Thr)
c.445C>A (p.Pro149Thr)
n.1583C>A
c.*6C>A (n.*6C>A)
12g.49185817C>ACA384641822TUBA1Ac.549G>T (p.Glu183Asp)
c.444G>T (p.Glu148Asp)
n.1582G>T
c.*5G>T (n.*5G>T)
12g.49185817C>GCA384641823TUBA1Ac.549G>C (p.Glu183Asp)
c.444G>C (p.Glu148Asp)
n.1582G>C
c.*5G>C (n.*5G>C)
12g.49185817C>TCA479717339TUBA1Ac.549G>A (p.Glu183=)
c.444G>A (p.Glu148=)
n.1582G>A
c.*5G>A (n.*5G>A)
12g.49185818T>ACA384641828TUBA1Ac.548A>T (p.Glu183Val)
c.443A>T (p.Glu148Val)
n.1581A>T
c.*4A>T (n.*4A>T)
12g.49185818T>CCA384641829TUBA1Ac.548A>G (p.Glu183Gly)
c.443A>G (p.Glu148Gly)
n.1581A>G
c.*4A>G (n.*4A>G)
12g.49185818T>GCA384641830TUBA1Ac.548A>C (p.Glu183Ala)
c.443A>C (p.Glu148Ala)
n.1581A>C
c.*4A>C (n.*4A>C)
12g.49185819C>ACA384641832TUBA1Ac.547G>T (p.Glu183Ter)
c.442G>T (p.Glu148Ter)
n.1580G>T
c.*3G>T (n.*3G>T)
12g.49185819C>GCA384641833TUBA1Ac.547G>C (p.Glu183Gln)
c.442G>C (p.Glu148Gln)
n.1580G>C
c.*3G>C (n.*3G>C)
12g.49185819C>TCA384641834TUBA1Ac.547G>A (p.Glu183Lys)
c.442G>A (p.Glu148Lys)
n.1580G>A
c.*3G>A (n.*3G>A)
 ClinVar
12g.49185820A=CA2035023045TUBA1Ac.546T= (p.Val182=)
c.441T= (p.Val147=)
n.1579T=
c.*2T= (n.*2T=)
12g.49185820A>CCA479717346TUBA1Ac.546T>G (p.Val182=)
c.441T>G (p.Val147=)
n.1579T>G
c.*2T>G (n.*2T>G)
12g.49185820A>GCA479717347TUBA1Ac.546T>C (p.Val182=)
c.441T>C (p.Val147=)
n.1579T>C
c.*2T>C (n.*2T>C)
12g.49185820A>TCA6550240TUBA1Ac.546T>A (p.Val182=)
c.441T>A (p.Val147=)
n.1579T>A
c.*2T>A (n.*2T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49185821A=CA2035023050TUBA1Ac.545T= (p.Val182=)
c.440T= (p.Val147=)
n.1578T=
c.*1T= (n.*1T=)
12g.49185821A>CCA384641838TUBA1Ac.545T>G (p.Val182Gly)
c.440T>G (p.Val147Gly)
n.1578T>G
c.*1T>G (n.*1T>G)
12g.49185821A>GCA384641839TUBA1Ac.545T>C (p.Val182Ala)
c.440T>C (p.Val147Ala)
n.1578T>C
c.*1T>C (n.*1T>C)
 ClinVar dbSNP
12g.49185821A>TCA384641841TUBA1Ac.545T>A (p.Val182Asp)
c.440T>A (p.Val147Asp)
n.1578T>A
c.*1T>A (n.*1T>A)
12g.49185822C>ACA384641842TUBA1Ac.544G>T (p.Val182Phe)
c.439G>T (p.Val147Phe)
n.1577G>T
c.567G>T (p.Ter189Tyr)
c.696G>T (p.Ter232Tyr)
12g.49185822C>GCA384641844TUBA1Ac.544G>C (p.Val182Leu)
c.439G>C (p.Val147Leu)
n.1577G>C
c.567G>C (p.Ter189Tyr)
c.696G>C (p.Ter232Tyr)
12g.49185822C>TCA384641845TUBA1Ac.544G>A (p.Val182Ile)
c.439G>A (p.Val147Ile)
n.1577G>A
c.567G>A (p.Ter189=)
c.696G>A (p.Ter232=)
12g.49185823T>ACA384641847TUBA1Ac.543A>T (p.Val181=)
c.438A>T (p.Val146=)
n.1576A>T
c.566A>T (p.Ter189Leu)
c.695A>T (p.Ter232Leu)
12g.49185823T>CCA236622617TUBA1Ac.543A>G (p.Val181=)
c.438A>G (p.Val146=)
n.1576A>G
c.566A>G (p.Ter189Trp)
c.695A>G (p.Ter232Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49185823T>GCA6550241TUBA1Ac.543A>C (p.Val181=)
c.438A>C (p.Val146=)
n.1576A>C
c.566A>C (p.Ter189Ser)
c.695A>C (p.Ter232Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49185823T=CA2035023055TUBA1Ac.543A= (p.Val181=)
c.438A= (p.Val146=)
n.1576A=
c.566A= (p.Ter189=)
c.695A= (p.Ter232=)
12g.49185824A>CCA384641850TUBA1Ac.542T>G (p.Val181Gly)
c.437T>G (p.Val146Gly)
n.1575T>G
c.565T>G (p.Ter189Glu)
c.694T>G (p.Ter232Glu)
12g.49185824A>GCA384641852TUBA1Ac.542T>C (p.Val181Ala)
c.437T>C (p.Val146Ala)
n.1575T>C
c.565T>C (p.Ter189Gln)
c.694T>C (p.Ter232Gln)
 ClinVar
12g.49185824A>TCA384641855TUBA1Ac.542T>A (p.Val181Glu)
c.437T>A (p.Val146Glu)
n.1575T>A
c.565T>A (p.Ter189Lys)
c.694T>A (p.Ter232Lys)
12g.49185825C>ACA384641858TUBA1Ac.541G>T (p.Val181Leu)
c.436G>T (p.Val146Leu)
n.1574G>T
c.564G>T (p.Leu188=)
c.693G>T (p.Leu231=)
12g.49185825C>GCA384641861TUBA1Ac.541G>C (p.Val181Leu)
c.436G>C (p.Val146Leu)
n.1574G>C
c.564G>C (p.Leu188=)
c.693G>C (p.Leu231=)
12g.49185825C>TCA384641862TUBA1Ac.541G>A (p.Val181Ile)
c.436G>A (p.Val146Ile)
n.1574G>A
c.564G>A (p.Leu188=)
c.693G>A (p.Leu231=)
 ClinVar
12g.49185826A>CCA384641863TUBA1Ac.540T>G (p.Ala180=)
c.435T>G (p.Ala145=)
n.1573T>G
c.563T>G (p.Leu188Arg)
c.692T>G (p.Leu231Arg)
12g.49185826A>GCA384641865TUBA1Ac.540T>C (p.Ala180=)
c.435T>C (p.Ala145=)
n.1573T>C
c.563T>C (p.Leu188Pro)
c.692T>C (p.Leu231Pro)
12g.49185826A>TCA384641866TUBA1Ac.540T>A (p.Ala180=)
c.435T>A (p.Ala145=)
n.1573T>A
c.563T>A (p.Leu188Gln)
c.692T>A (p.Leu231Gln)
12g.49185827G>ACA384641867TUBA1Ac.539C>T (p.Ala180Val)
c.434C>T (p.Ala145Val)
n.1572C>T
c.562C>T (p.Leu188=)
c.691C>T (p.Leu231=)
 ClinVar dbSNP
12g.49185827G>CCA384641869TUBA1Ac.539C>G (p.Ala180Gly)
c.434C>G (p.Ala145Gly)
n.1572C>G
c.562C>G (p.Leu188Val)
c.691C>G (p.Leu231Val)
12g.49185827G>TCA384641871TUBA1Ac.539C>A (p.Ala180Asp)
c.434C>A (p.Ala145Asp)
n.1572C>A
c.562C>A (p.Leu188Met)
c.691C>A (p.Leu231Met)
12g.49185828C>ACA384641876TUBA1Ac.538G>T (p.Ala180Ser)
c.433G>T (p.Ala145Ser)
n.1571G>T
c.561G>T (p.Gln187His)
c.690G>T (p.Gln230His)
12g.49185828C>GCA384641874TUBA1Ac.538G>C (p.Ala180Pro)
c.433G>C (p.Ala145Pro)
n.1571G>C
c.561G>C (p.Gln187His)
c.690G>C (p.Gln230His)
12g.49185828C>TCA384641873TUBA1Ac.538G>A (p.Ala180Thr)
c.433G>A (p.Ala145Thr)
n.1571G>A
c.561G>A (p.Gln187=)
c.690G>A (p.Gln230=)
12g.49185829T>ACA384641878TUBA1Ac.537A>T (p.Thr179=)
c.432A>T (p.Thr144=)
n.1570A>T
c.560A>T (p.Gln187Leu)
c.689A>T (p.Gln230Leu)
12g.49185829T>CCA384641879TUBA1Ac.537A>G (p.Thr179=)
c.432A>G (p.Thr144=)
n.1570A>G
c.560A>G (p.Gln187Arg)
c.689A>G (p.Gln230Arg)
 gnomAD v4
12g.49185829T>GCA384641881TUBA1Ac.537A>C (p.Thr179=)
c.432A>C (p.Thr144=)
n.1570A>C
c.560A>C (p.Gln187Pro)
c.689A>C (p.Gln230Pro)
12g.49185830G>ACA384641883TUBA1Ac.536C>T (p.Thr179Ile)
c.431C>T (p.Thr144Ile)
n.1569C>T
c.559C>T (p.Gln187Ter)
c.688C>T (p.Gln230Ter)
12g.49185830G>CCA384641885TUBA1Ac.536C>G (p.Thr179Arg)
c.431C>G (p.Thr144Arg)
n.1569C>G
c.559C>G (p.Gln187Glu)
c.688C>G (p.Gln230Glu)
12g.49185830G>TCA384641886TUBA1Ac.536C>A (p.Thr179Lys)
c.431C>A (p.Thr144Lys)
n.1569C>A
c.559C>A (p.Gln187Lys)
c.688C>A (p.Gln230Lys)
12g.49185831T>ACA384641887TUBA1Ac.535A>T (p.Thr179Ser)
c.430A>T (p.Thr144Ser)
n.1568A>T
c.558A>T (p.Pro186=)
c.687A>T (p.Pro229=)
12g.49185831T>CCA384641889TUBA1Ac.535A>G (p.Thr179Ala)
c.430A>G (p.Thr144Ala)
n.1568A>G
c.558A>G (p.Pro186=)
c.687A>G (p.Pro229=)
12g.49185831T>GCA384641891TUBA1Ac.535A>C (p.Thr179Pro)
c.430A>C (p.Thr144Pro)
n.1568A>C
c.558A>C (p.Pro186=)
c.687A>C (p.Pro229=)
12g.49185832G>ACA384641903TUBA1Ac.534C>T (p.Ser178=)
c.429C>T (p.Ser143=)
n.1567C>T
c.557C>T (p.Pro186Leu)
c.686C>T (p.Pro229Leu)
12g.49185832G>CCA384641906TUBA1Ac.534C>G (p.Ser178=)
c.429C>G (p.Ser143=)
n.1567C>G
c.557C>G (p.Pro186Arg)
c.686C>G (p.Pro229Arg)
12g.49185832G>TCA384641908TUBA1Ac.534C>A (p.Ser178=)
c.429C>A (p.Ser143=)
n.1567C>A
c.557C>A (p.Pro186Gln)
c.686C>A (p.Pro229Gln)
12g.49185833G>ACA384641916TUBA1Ac.533C>T (p.Ser178Phe)
c.428C>T (p.Ser143Phe)
n.1566C>T
c.556C>T (p.Pro186Ser)
c.685C>T (p.Pro229Ser)
12g.49185833G>CCA384641915TUBA1Ac.533C>G (p.Ser178Cys)
c.428C>G (p.Ser143Cys)
n.1566C>G
c.556C>G (p.Pro186Ala)
c.685C>G (p.Pro229Ala)
12g.49185833G>TCA384641913TUBA1Ac.533C>A (p.Ser178Tyr)
c.428C>A (p.Ser143Tyr)
n.1566C>A
c.556C>A (p.Pro186Thr)
c.685C>A (p.Pro229Thr)
12g.49185834A>CCA384641920TUBA1Ac.532T>G (p.Ser178Ala)
c.427T>G (p.Ser143Ala)
n.1565T>G
c.555T>G (p.Phe185Leu)
c.684T>G (p.Phe228Leu)
12g.49185834A>GCA384641924TUBA1Ac.532T>C (p.Ser178Pro)
c.427T>C (p.Ser143Pro)
n.1565T>C
c.555T>C (p.Phe185=)
c.684T>C (p.Phe228=)
12g.49185834A>TCA384641923TUBA1Ac.532T>A (p.Ser178Thr)
c.427T>A (p.Ser143Thr)
n.1565T>A
c.555T>A (p.Phe185Leu)
c.684T>A (p.Phe228Leu)
12g.49185835A>CCA384641927TUBA1Ac.531T>G (p.Val177=)
c.426T>G (p.Val142=)
n.1564T>G
c.554T>G (p.Phe185Cys)
c.683T>G (p.Phe228Cys)
 gnomAD v4
12g.49185835A>GCA384641931TUBA1Ac.531T>C (p.Val177=)
c.426T>C (p.Val142=)
n.1564T>C
c.554T>C (p.Phe185Ser)
c.683T>C (p.Phe228Ser)
12g.49185835A>TCA384641928TUBA1Ac.531T>A (p.Val177=)
c.426T>A (p.Val142=)
n.1564T>A
c.554T>A (p.Phe185Tyr)
c.683T>A (p.Phe228Tyr)
12g.49185836A>CCA384641932TUBA1Ac.530T>G (p.Val177Gly)
c.425T>G (p.Val142Gly)
n.1563T>G
c.553T>G (p.Phe185Val)
c.682T>G (p.Phe228Val)
12g.49185836A>GCA384641934TUBA1Ac.530T>C (p.Val177Ala)
c.425T>C (p.Val142Ala)
n.1563T>C
c.553T>C (p.Phe185Leu)
c.682T>C (p.Phe228Leu)
12g.49185836A>TCA384641937TUBA1Ac.530T>A (p.Val177Asp)
c.425T>A (p.Val142Asp)
n.1563T>A
c.553T>A (p.Phe185Ile)
c.682T>A (p.Phe228Ile)
12g.49185837C>ACA384641939TUBA1Ac.529G>T (p.Val177Phe)
c.424G>T (p.Val142Phe)
n.1562G>T
c.552G>T (p.Arg184Ser)
c.681G>T (p.Arg227Ser)
12g.49185837C>GCA384641942TUBA1Ac.529G>C (p.Val177Leu)
c.424G>C (p.Val142Leu)
n.1562G>C
c.552G>C (p.Arg184Ser)
c.681G>C (p.Arg227Ser)
12g.49185837C>TCA384641945TUBA1Ac.529G>A (p.Val177Ile)
c.424G>A (p.Val142Ile)
n.1562G>A
c.552G>A (p.Arg184=)
c.681G>A (p.Arg227=)
12g.49185838C>ACA384641948TUBA1Ac.528G>T (p.Gln176His)
c.423G>T (p.Gln141His)
n.1561G>T
c.551G>T (p.Arg184Met)
c.680G>T (p.Arg227Met)
 ClinVar
12g.49185838C>GCA384641950TUBA1Ac.528G>C (p.Gln176His)
c.423G>C (p.Gln141His)
n.1561G>C
c.551G>C (p.Arg184Thr)
c.680G>C (p.Arg227Thr)
 ClinVar
12g.49185838C>TCA384641952TUBA1Ac.528G>A (p.Gln176=)
c.423G>A (p.Gln141=)
n.1561G>A
c.551G>A (p.Arg184Lys)
c.680G>A (p.Arg227Lys)
 gnomAD v4
12g.49185839T>ACA384641956TUBA1Ac.527A>T (p.Gln176Leu)
c.422A>T (p.Gln141Leu)
n.1560A>T
c.550A>T (p.Arg184Trp)
c.679A>T (p.Arg227Trp)
 ClinVar
12g.49185839T>CCA384641958TUBA1Ac.527A>G (p.Gln176Arg)
c.422A>G (p.Gln141Arg)
n.1560A>G
c.550A>G (p.Arg184Gly)
c.679A>G (p.Arg227Gly)
12g.49185839T>GCA384641960TUBA1Ac.527A>C (p.Gln176Pro)
c.422A>C (p.Gln141Pro)
n.1560A>C
c.550A>C (p.Arg184=)
c.679A>C (p.Arg227=)
12g.49185840G>ACA384641963TUBA1Ac.526C>T (p.Gln176Ter)
c.421C>T (p.Gln141Ter)
n.1559C>T
c.549C>T (p.Pro183=)
c.678C>T (p.Pro226=)
12g.49185840G>CCA384641967TUBA1Ac.526C>G (p.Gln176Glu)
c.421C>G (p.Gln141Glu)
n.1559C>G
c.549C>G (p.Pro183=)
c.678C>G (p.Pro226=)
12g.49185840G>TCA384641965TUBA1Ac.526C>A (p.Gln176Lys)
c.421C>A (p.Gln141Lys)
n.1559C>A
c.549C>A (p.Pro183=)
c.678C>A (p.Pro226=)
12g.49185841G>ACA6550242TUBA1Ac.525C>T (p.Pro175=)
c.420C>T (p.Pro140=)
n.1558C>T
c.548C>T (p.Pro183Leu)
c.677C>T (p.Pro226Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49185841G>CCA384641971TUBA1Ac.525C>G (p.Pro175=)
c.420C>G (p.Pro140=)
n.1558C>G
c.548C>G (p.Pro183Arg)
c.677C>G (p.Pro226Arg)
 gnomAD v4
12g.49185841G=CA2035023057TUBA1Ac.525C= (p.Pro175=)
c.420C= (p.Pro140=)
n.1558C=
c.548C= (p.Pro183=)
c.677C= (p.Pro226=)
12g.49185841G>TCA6550243TUBA1Ac.525C>A (p.Pro175=)
c.420C>A (p.Pro140=)
n.1558C>A
c.548C>A (p.Pro183His)
c.677C>A (p.Pro226His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49185842G>ACA384641974TUBA1Ac.524C>T (p.Pro175Leu)
c.419C>T (p.Pro140Leu)
n.1557C>T
c.547C>T (p.Pro183Ser)
c.676C>T (p.Pro226Ser)
12g.49185842G>CCA384641978TUBA1Ac.524C>G (p.Pro175Arg)
c.419C>G (p.Pro140Arg)
n.1557C>G
c.547C>G (p.Pro183Ala)
c.676C>G (p.Pro226Ala)
12g.49185842G>TCA384641980TUBA1Ac.524C>A (p.Pro175His)
c.419C>A (p.Pro140His)
n.1557C>A
c.547C>A (p.Pro183Thr)
c.676C>A (p.Pro226Thr)
12g.49185843G>ACA384641984TUBA1Ac.523C>T (p.Pro175Ser)
c.418C>T (p.Pro140Ser)
n.1556C>T
c.546C>T (p.Arg182=)
c.675C>T (p.Arg225=)
12g.49185843G>CCA384641987TUBA1Ac.523C>G (p.Pro175Ala)
c.418C>G (p.Pro140Ala)
n.1556C>G
c.546C>G (p.Arg182=)
c.675C>G (p.Arg225=)
12g.49185843G>TCA384641988TUBA1Ac.523C>A (p.Pro175Thr)
c.418C>A (p.Pro140Thr)
n.1556C>A
c.546C>A (p.Arg182=)
c.675C>A (p.Arg225=)
12g.49185844C>ACA384641993TUBA1Ac.522G>T (p.Ala174=)
c.417G>T (p.Ala139=)
n.1555G>T
c.545G>T (p.Arg182Leu)
c.674G>T (p.Arg225Leu)
12g.49185844C=CA2035023063TUBA1Ac.522G= (p.Ala174=)
c.417G= (p.Ala139=)
n.1555G=
c.545G= (p.Arg182=)
c.674G= (p.Arg225=)
12g.49185844C>GCA384641994TUBA1Ac.522G>C (p.Ala174=)
c.417G>C (p.Ala139=)
n.1555G>C
c.545G>C (p.Arg182Pro)
c.674G>C (p.Arg225Pro)
12g.49185844C>TCA173760TUBA1Ac.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
12g.49185845G>ACA213271TUBA1Ac.521C>T (p.Ala174Val)
c.416C>T (p.Ala139Val)
n.1554C>T
c.544C>T (p.Arg182Cys)
c.673C>T (p.Arg225Cys)
 ClinVar dbSNP
12g.49185845G>CCA384641999TUBA1Ac.521C>G (p.Ala174Gly)
c.416C>G (p.Ala139Gly)
n.1554C>G
c.544C>G (p.Arg182Gly)
c.673C>G (p.Arg225Gly)
12g.49185845G=CA2035023068TUBA1Ac.521C= (p.Ala174=)
c.416C= (p.Ala139=)
n.1554C=
c.544C= (p.Arg182=)
c.673C= (p.Arg225=)
12g.49185845G>TCA384642000TUBA1Ac.521C>A (p.Ala174Glu)
c.416C>A (p.Ala139Glu)
n.1554C>A
c.544C>A (p.Arg182Ser)
c.673C>A (p.Arg225Ser)
12g.49185846C>ACA384642003TUBA1Ac.520G>T (p.Ala174Ser)
c.415G>T (p.Ala139Ser)
n.1553G>T
c.543G>T (p.Arg181=)
c.672G>T (p.Arg224=)
12g.49185846C=CA2035023072TUBA1Ac.520G= (p.Ala174=)
c.415G= (p.Ala139=)
n.1553G=
c.543G= (p.Arg181=)
c.672G= (p.Arg224=)
12g.49185846C>GCA384642005TUBA1Ac.520G>C (p.Ala174Pro)
c.415G>C (p.Ala139Pro)
n.1553G>C
c.543G>C (p.Arg181=)
c.672G>C (p.Arg224=)
 ClinVar dbSNP
12g.49185846C>TCA384642008TUBA1Ac.520G>A (p.Ala174Thr)
c.415G>A (p.Ala139Thr)
n.1553G>A
c.543G>A (p.Arg181=)
c.672G>A (p.Arg224=)
12g.49185847C>ACA384642011TUBA1Ac.519G>T (p.Pro173=)
c.414G>T (p.Pro138=)
n.1552G>T
c.542G>T (p.Arg181Leu)
c.671G>T (p.Arg224Leu)
12g.49185847C=CA2035023077TUBA1Ac.519G= (p.Pro173=)
c.414G= (p.Pro138=)
n.1552G=
c.542G= (p.Arg181=)
c.671G= (p.Arg224=)
12g.49185847C>GCA384642013TUBA1Ac.519G>C (p.Pro173=)
c.414G>C (p.Pro138=)
n.1552G>C
c.542G>C (p.Arg181Pro)
c.671G>C (p.Arg224Pro)
 gnomAD v4
12g.49185847C>TCA236622660TUBA1Ac.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
12g.49185848G>ACA384642016TUBA1Ac.518C>T (p.Pro173Leu)
c.413C>T (p.Pro138Leu)
n.1551C>T
c.541C>T (p.Arg181Trp)
c.670C>T (p.Arg224Trp)
 ClinVar dbSNP
12g.49185848G>CCA384642019TUBA1Ac.518C>G (p.Pro173Arg)
c.413C>G (p.Pro138Arg)
n.1551C>G
c.541C>G (p.Arg181Gly)
c.670C>G (p.Arg224Gly)
12g.49185848G=CA2035023082TUBA1Ac.518C= (p.Pro173=)
c.413C= (p.Pro138=)
n.1551C=
c.541C= (p.Arg181=)
c.670C= (p.Arg224=)
12g.49185848G>TCA384642021TUBA1Ac.518C>A (p.Pro173Gln)
c.413C>A (p.Pro138Gln)
n.1551C>A
c.541C>A (p.Arg181=)
c.670C>A (p.Arg224=)
12g.49185849G>ACA384642030TUBA1Ac.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
12g.49185849G>CCA384642024TUBA1Ac.517C>G (p.Pro173Ala)
c.412C>G (p.Pro138Ala)
n.1550C>G
c.540C>G (p.Thr180=)
c.669C>G (p.Thr223=)
12g.49185849G=CA2035023087TUBA1Ac.517C= (p.Pro173=)
c.412C= (p.Pro138=)
n.1550C=
c.540C= (p.Thr180=)
c.669C= (p.Thr223=)
12g.49185849G>TCA384642027TUBA1Ac.517C>A (p.Pro173Thr)
c.412C>A (p.Pro138Thr)
n.1550C>A
c.540C>A (p.Thr180=)
c.669C>A (p.Thr223=)
12g.49185850G>ACA236622664TUBA1Ac.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
12g.49185850G>CCA384642034TUBA1Ac.516C>G (p.Tyr172Ter)
c.411C>G (p.Tyr137Ter)
n.1549C>G
c.539C>G (p.Thr180Ser)
c.668C>G (p.Thr223Ser)
12g.49185850G=CA2035023090TUBA1Ac.516C= (p.Tyr172=)
c.411C= (p.Tyr137=)
n.1549C=
c.539C= (p.Thr180=)
c.668C= (p.Thr223=)
12g.49185850G>TCA384642036TUBA1Ac.516C>A (p.Tyr172Ter)
c.411C>A (p.Tyr137Ter)
n.1549C>A
c.539C>A (p.Thr180Asn)
c.668C>A (p.Thr223Asn)
12g.49185851T>ACA384642040TUBA1Ac.515A>T (p.Tyr172Phe)
c.410A>T (p.Tyr137Phe)
n.1548A>T
c.538A>T (p.Thr180Ser)
c.667A>T (p.Thr223Ser)
12g.49185851T>CCA384642042TUBA1Ac.515A>G (p.Tyr172Cys)
c.410A>G (p.Tyr137Cys)
n.1548A>G
c.538A>G (p.Thr180Ala)
c.667A>G (p.Thr223Ala)
12g.49185851T>GCA384642044TUBA1Ac.515A>C (p.Tyr172Ser)
c.410A>C (p.Tyr137Ser)
n.1548A>C
c.538A>C (p.Thr180Pro)
c.667A>C (p.Thr223Pro)
12g.49185852A>CCA384642047TUBA1Ac.514T>G (p.Tyr172Asp)
c.409T>G (p.Tyr137Asp)
n.1547T>G
c.537T>G (p.Phe179Leu)
c.666T>G (p.Phe222Leu)
12g.49185852A>GCA384642049TUBA1Ac.514T>C (p.Tyr172His)
c.409T>C (p.Tyr137His)
n.1547T>C
c.537T>C (p.Phe179=)
c.666T>C (p.Phe222=)
12g.49185852A>TCA384642053TUBA1Ac.514T>A (p.Tyr172Asn)
c.409T>A (p.Tyr137Asn)
n.1547T>A
c.537T>A (p.Phe179Leu)
c.666T>A (p.Phe222Leu)
12g.49185853A>CCA384642056TUBA1Ac.513T>G (p.Ile171Met)
c.408T>G (p.Ile136Met)
n.1546T>G
c.536T>G (p.Phe179Cys)
c.665T>G (p.Phe222Cys)
12g.49185853A>GCA384642057TUBA1Ac.513T>C (p.Ile171=)
c.408T>C (p.Ile136=)
n.1546T>C
c.536T>C (p.Phe179Ser)
c.665T>C (p.Phe222Ser)
12g.49185853A>TCA384642061TUBA1Ac.513T>A (p.Ile171=)
c.408T>A (p.Ile136=)
n.1546T>A
c.536T>A (p.Phe179Tyr)
c.665T>A (p.Phe222Tyr)
12g.49185854A>CCA384642070TUBA1Ac.512T>G (p.Ile171Ser)
c.407T>G (p.Ile136Ser)
n.1545T>G
c.535T>G (p.Phe179Val)
c.664T>G (p.Phe222Val)
12g.49185854A>GCA384642067TUBA1Ac.512T>C (p.Ile171Thr)
c.407T>C (p.Ile136Thr)
n.1545T>C
c.535T>C (p.Phe179Leu)
c.664T>C (p.Phe222Leu)
12g.49185854A>TCA384642064TUBA1Ac.512T>A (p.Ile171Asn)
c.407T>A (p.Ile136Asn)
n.1545T>A
c.535T>A (p.Phe179Ile)
c.664T>A (p.Phe222Ile)
12g.49185855T>ACA384642072TUBA1Ac.511A>T (p.Ile171Phe)
c.406A>T (p.Ile136Phe)
n.1544A>T
c.534A>T (p.Leu178=)
c.663A>T (p.Leu221=)
12g.49185855T>CCA384642078TUBA1Ac.511A>G (p.Ile171Val)
c.406A>G (p.Ile136Val)
n.1544A>G
c.534A>G (p.Leu178=)
c.663A>G (p.Leu221=)
12g.49185855T>GCA384642075TUBA1Ac.511A>C (p.Ile171Leu)
c.406A>C (p.Ile136Leu)
n.1544A>C
c.534A>C (p.Leu178=)
c.663A>C (p.Leu221=)
12g.49185856A=CA2035023092TUBA1Ac.510T= (p.Ser170=)
c.405T= (p.Ser135=)
n.1543T=
c.533T= (p.Leu178=)
c.662T= (p.Leu221=)
12g.49185856A>CCA384642082TUBA1Ac.510T>G (p.Ser170=)
c.405T>G (p.Ser135=)
n.1543T>G
c.533T>G (p.Leu178Arg)
c.662T>G (p.Leu221Arg)
 dbSNP
12g.49185856A>GCA173758TUBA1Ac.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
12g.49185856A>TCA384642086TUBA1Ac.510T>A (p.Ser170=)
c.405T>A (p.Ser135=)
n.1543T>A
c.533T>A (p.Leu178Gln)
c.662T>A (p.Leu221Gln)
12g.49185857G>ACA384642089TUBA1Ac.509C>T (p.Ser170Phe)
c.404C>T (p.Ser135Phe)
n.1542C>T
c.532C>T (p.Leu178=)
c.661C>T (p.Leu221=)
12g.49185857G>CCA384642091TUBA1Ac.509C>G (p.Ser170Cys)
c.404C>G (p.Ser135Cys)
n.1542C>G
c.532C>G (p.Leu178Val)
c.661C>G (p.Leu221Val)
12g.49185857G>TCA384642093TUBA1Ac.509C>A (p.Ser170Tyr)
c.404C>A (p.Ser135Tyr)
n.1542C>A
c.532C>A (p.Leu178Ile)
c.661C>A (p.Leu221Ile)
12g.49185858A>CCA384642095TUBA1Ac.508T>G (p.Ser170Ala)
c.403T>G (p.Ser135Ala)
n.1541T>G
c.531T>G (p.Ser177=)
c.660T>G (p.Ser220=)
12g.49185858A>GCA384642098TUBA1Ac.508T>C (p.Ser170Pro)
c.403T>C (p.Ser135Pro)
n.1541T>C
c.531T>C (p.Ser177=)
c.660T>C (p.Ser220=)
12g.49185858A>TCA384642100TUBA1Ac.508T>A (p.Ser170Thr)
c.403T>A (p.Ser135Thr)
n.1541T>A
c.531T>A (p.Ser177=)
c.660T>A (p.Ser220=)
12g.49185859G>ACA384642104TUBA1Ac.507C>T (p.Phe169=)
c.402C>T (p.Phe134=)
n.1540C>T
c.530C>T (p.Ser177Phe)
c.659C>T (p.Ser220Phe)
 gnomAD v4
12g.49185859G>CCA384642105TUBA1Ac.507C>G (p.Phe169Leu)
c.402C>G (p.Phe134Leu)
n.1540C>G
c.530C>G (p.Ser177Cys)
c.659C>G (p.Ser220Cys)
12g.49185859G>TCA384642106TUBA1Ac.507C>A (p.Phe169Leu)
c.402C>A (p.Phe134Leu)
n.1540C>A
c.530C>A (p.Ser177Tyr)
c.659C>A (p.Ser220Tyr)
12g.49185860A>CCA384642108TUBA1Ac.506T>G (p.Phe169Cys)
c.401T>G (p.Phe134Cys)
n.1539T>G
c.529T>G (p.Ser177Ala)
c.658T>G (p.Ser220Ala)
12g.49185860A>GCA384642112TUBA1Ac.506T>C (p.Phe169Ser)
c.401T>C (p.Phe134Ser)
n.1539T>C
c.529T>C (p.Ser177Pro)
c.658T>C (p.Ser220Pro)
12g.49185860A>TCA384642110TUBA1Ac.506T>A (p.Phe169Tyr)
c.401T>A (p.Phe134Tyr)
n.1539T>A
c.529T>A (p.Ser177Thr)
c.658T>A (p.Ser220Thr)
12g.49185861A>CCA384642116TUBA1Ac.505T>G (p.Phe169Val)
c.400T>G (p.Phe134Val)
n.1538T>G
c.528T>G (p.Ser176Arg)
c.657T>G (p.Ser219Arg)
12g.49185861A>GCA384642118TUBA1Ac.505T>C (p.Phe169Leu)
c.400T>C (p.Phe134Leu)
n.1538T>C
c.528T>C (p.Ser176=)
c.657T>C (p.Ser219=)
12g.49185861A>TCA384642121TUBA1Ac.505T>A (p.Phe169Ile)
c.400T>A (p.Phe134Ile)
n.1538T>A
c.528T>A (p.Ser176Arg)
c.657T>A (p.Ser219Arg)
12g.49185862C>ACA384642124TUBA1Ac.504G>T (p.Glu168Asp)
c.399G>T (p.Glu133Asp)
n.1537G>T
c.527G>T (p.Ser176Ile)
c.656G>T (p.Ser219Ile)
12g.49185862C=CA2035023098TUBA1Ac.504G= (p.Glu168=)
c.399G= (p.Glu133=)
n.1537G=
c.527G= (p.Ser176=)
c.656G= (p.Ser219=)
12g.49185862C>GCA384642125TUBA1Ac.504G>C (p.Glu168Asp)
c.399G>C (p.Glu133Asp)
n.1537G>C
c.527G>C (p.Ser176Thr)
c.656G>C (p.Ser219Thr)
12g.49185862C>TCA6550244TUBA1Ac.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
12g.49185863T>ACA384642129TUBA1Ac.503A>T (p.Glu168Val)
c.398A>T (p.Glu133Val)
n.1536A>T
c.526A>T (p.Ser176Cys)
c.655A>T (p.Ser219Cys)
12g.49185863T>CCA384642132TUBA1Ac.503A>G (p.Glu168Gly)
c.398A>G (p.Glu133Gly)
n.1536A>G
c.526A>G (p.Ser176Gly)
c.655A>G (p.Ser219Gly)
12g.49185863T>GCA384642134TUBA1Ac.503A>C (p.Glu168Ala)
c.398A>C (p.Glu133Ala)
n.1536A>C
c.526A>C (p.Ser176Arg)
c.655A>C (p.Ser219Arg)
12g.49185864C>ACA384642140TUBA1Ac.502G>T (p.Glu168Ter)
c.397G>T (p.Glu133Ter)
n.1535G>T
c.525G>T (p.Trp175Cys)
c.654G>T (p.Trp218Cys)
12g.49185864C>GCA384642143TUBA1Ac.502G>C (p.Glu168Gln)
c.397G>C (p.Glu133Gln)
n.1535G>C
c.525G>C (p.Trp175Cys)
c.654G>C (p.Trp218Cys)
12g.49185864C>TCA384642137TUBA1Ac.502G>A (p.Glu168Lys)
c.397G>A (p.Glu133Lys)
n.1535G>A
c.525G>A (p.Trp175Ter)
c.654G>A (p.Trp218Ter)
12g.49185865C>ACA384642149TUBA1Ac.501G>T (p.Leu167=)
c.396G>T (p.Leu132=)
n.1534G>T
c.524G>T (p.Trp175Leu)
c.653G>T (p.Trp218Leu)
12g.49185865C>GCA384642150TUBA1Ac.501G>C (p.Leu167=)
c.396G>C (p.Leu132=)
n.1534G>C
c.524G>C (p.Trp175Ser)
c.653G>C (p.Trp218Ser)
12g.49185865C>TCA384642152TUBA1Ac.501G>A (p.Leu167=)
c.396G>A (p.Leu132=)
n.1534G>A
c.524G>A (p.Trp175Ter)
c.653G>A (p.Trp218Ter)
12g.49185866A>CCA384642154TUBA1Ac.500T>G (p.Leu167Arg)
c.395T>G (p.Leu132Arg)
n.1533T>G
c.523T>G (p.Trp175Gly)
c.652T>G (p.Trp218Gly)
12g.49185866A>GCA384642157TUBA1Ac.500T>C (p.Leu167Pro)
c.395T>C (p.Leu132Pro)
n.1533T>C
c.523T>C (p.Trp175Arg)
c.652T>C (p.Trp218Arg)
12g.49185866A>TCA384642160TUBA1Ac.500T>A (p.Leu167Gln)
c.395T>A (p.Leu132Gln)
n.1533T>A
c.523T>A (p.Trp175Arg)
c.652T>A (p.Trp218Arg)
12g.49185867G>ACA479717398TUBA1Ac.499C>T (p.Leu167=)
c.394C>T (p.Leu132=)
n.1532C>T
c.522C>T (p.Ser174=)
c.651C>T (p.Ser217=)
 gnomAD v4
12g.49185867G>CCA384642166TUBA1Ac.499C>G (p.Leu167Val)
c.394C>G (p.Leu132Val)
n.1532C>G
c.522C>G (p.Ser174Arg)
c.651C>G (p.Ser217Arg)
12g.49185867G>TCA384642164TUBA1Ac.499C>A (p.Leu167Met)
c.394C>A (p.Leu132Met)
n.1532C>A
c.522C>A (p.Ser174Arg)
c.651C>A (p.Ser217Arg)
12g.49185868C>ACA384642168TUBA1Ac.498G>T (p.Lys166Asn)
c.393G>T (p.Lys131Asn)
n.1531G>T
c.521G>T (p.Ser174Ile)
c.650G>T (p.Ser217Ile)
12g.49185868C>GCA384642171TUBA1Ac.498G>C (p.Lys166Asn)
c.393G>C (p.Lys131Asn)
n.1531G>C
c.521G>C (p.Ser174Thr)
c.650G>C (p.Ser217Thr)
12g.49185868C>TCA384642174TUBA1Ac.498G>A (p.Lys166=)
c.393G>A (p.Lys131=)
n.1531G>A
c.521G>A (p.Ser174Asn)
c.650G>A (p.Ser217Asn)
12g.49185869T>ACA384642177TUBA1Ac.497A>T (p.Lys166Met)
c.392A>T (p.Lys131Met)
n.1530A>T
c.520A>T (p.Ser174Cys)
c.649A>T (p.Ser217Cys)
12g.49185869T>CCA384642179TUBA1Ac.497A>G (p.Lys166Arg)
c.392A>G (p.Lys131Arg)
n.1530A>G
c.520A>G (p.Ser174Gly)
c.649A>G (p.Ser217Gly)
12g.49185869T>GCA384642181TUBA1Ac.497A>C (p.Lys166Thr)
c.392A>C (p.Lys131Thr)
n.1530A>C
c.520A>C (p.Ser174Arg)
c.649A>C (p.Ser217Arg)
12g.49185870T>ACA384642184TUBA1Ac.496A>T (p.Lys166Ter)
c.391A>T (p.Lys131Ter)
n.1529A>T
c.519A>T (p.Pro173=)
c.648A>T (p.Pro216=)
12g.49185870T>CCA384642189TUBA1Ac.496A>G (p.Lys166Glu)
c.391A>G (p.Lys131Glu)
n.1529A>G
c.519A>G (p.Pro173=)
c.648A>G (p.Pro216=)
12g.49185870T>GCA384642186TUBA1Ac.496A>C (p.Lys166Gln)
c.391A>C (p.Lys131Gln)
n.1529A>C
c.519A>C (p.Pro173=)
c.648A>C (p.Pro216=)
12g.49185871G>ACA384642192TUBA1Ac.495C>T (p.Ser165=)
c.390C>T (p.Ser130=)
n.1528C>T
c.518C>T (p.Pro173Leu)
c.647C>T (p.Pro216Leu)
 gnomAD v4
12g.49185871G>CCA384642195TUBA1Ac.495C>G (p.Ser165=)
c.390C>G (p.Ser130=)
n.1528C>G
c.518C>G (p.Pro173Arg)
c.647C>G (p.Pro216Arg)
12g.49185871G>TCA384642199TUBA1Ac.495C>A (p.Ser165=)
c.390C>A (p.Ser130=)
n.1528C>A
c.518C>A (p.Pro173Gln)
c.647C>A (p.Pro216Gln)
12g.49185872G>ACA384642203TUBA1Ac.494C>T (p.Ser165Phe)
c.389C>T (p.Ser130Phe)
n.1527C>T
c.517C>T (p.Pro173Ser)
c.646C>T (p.Pro216Ser)
12g.49185872G>CCA384642205TUBA1Ac.494C>G (p.Ser165Cys)
c.389C>G (p.Ser130Cys)
n.1527C>G
c.517C>G (p.Pro173Ala)
c.646C>G (p.Pro216Ala)
12g.49185872G>TCA384642208TUBA1Ac.494C>A (p.Ser165Tyr)
c.389C>A (p.Ser130Tyr)
n.1527C>A
c.517C>A (p.Pro173Thr)
c.646C>A (p.Pro216Thr)
12g.49185873A>CCA384642210TUBA1Ac.493T>G (p.Ser165Ala)
c.388T>G (p.Ser130Ala)
n.1526T>G
c.516T>G (p.Ser172Arg)
c.645T>G (p.Ser215Arg)
12g.49185873A>GCA384642213TUBA1Ac.493T>C (p.Ser165Pro)
c.388T>C (p.Ser130Pro)
n.1526T>C
c.516T>C (p.Ser172=)
c.645T>C (p.Ser215=)
12g.49185873A>TCA384642215TUBA1Ac.493T>A (p.Ser165Thr)
c.388T>A (p.Ser130Thr)
n.1526T>A
c.516T>A (p.Ser172Arg)
c.645T>A (p.Ser215Arg)
12g.49185874C>ACA384642219TUBA1Ac.492G>T (p.Lys164Asn)
c.387G>T (p.Lys129Asn)
n.1525G>T
c.515G>T (p.Ser172Ile)
c.644G>T (p.Ser215Ile)
12g.49185874C=CA2035023103TUBA1Ac.492G= (p.Lys164=)
c.387G= (p.Lys129=)
n.1525G=
c.515G= (p.Ser172=)
c.644G= (p.Ser215=)
12g.49185874C>GCA384642221TUBA1Ac.492G>C (p.Lys164Asn)
c.387G>C (p.Lys129Asn)
n.1525G>C
c.515G>C (p.Ser172Thr)
c.644G>C (p.Ser215Thr)
12g.49185874C>TCA6550245TUBA1Ac.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
12g.49185875T>ACA384642227TUBA1Ac.491A>T (p.Lys164Met)
c.386A>T (p.Lys129Met)
n.1524A>T
c.514A>T (p.Ser172Cys)
c.643A>T (p.Ser215Cys)
12g.49185875T>CCA384642230TUBA1Ac.491A>G (p.Lys164Arg)
c.386A>G (p.Lys129Arg)
n.1524A>G
c.514A>G (p.Ser172Gly)
c.643A>G (p.Ser215Gly)
 COSMIC
12g.49185875T>GCA384642225TUBA1Ac.491A>C (p.Lys164Thr)
c.386A>C (p.Lys129Thr)
n.1524A>C
c.514A>C (p.Ser172Arg)
c.643A>C (p.Ser215Arg)
 COSMIC
12g.49185876delCA2575146020TUBA1Ac.491del (p.Lys164SerfsTer18)
c.386del (p.Lys129SerfsTer18)
n.1524del
c.514del (p.Ser172ValfsTer19)
c.643del (p.Ser215ValfsTer19)
12g.49185876T>ACA384642237TUBA1Ac.490A>T (p.Lys164Ter)
c.385A>T (p.Lys129Ter)
n.1523A>T
c.513A>T (p.Arg171Ser)
c.642A>T (p.Arg214Ser)
12g.49185876T>CCA384642234TUBA1Ac.490A>G (p.Lys164Glu)
c.385A>G (p.Lys129Glu)
n.1523A>G
c.513A>G (p.Arg171=)
c.642A>G (p.Arg214=)
12g.49185876T>GCA384642239TUBA1Ac.490A>C (p.Lys164Gln)
c.385A>C (p.Lys129Gln)
n.1523A>C
c.513A>C (p.Arg171Ser)
c.642A>C (p.Arg214Ser)
12g.49185877delCA2580617843TUBA1Ac.489del (p.Lys164SerfsTer18)
c.384del (p.Lys129SerfsTer18)
n.1522del
c.512del (p.Arg171LysfsTer20)
c.641del (p.Arg214LysfsTer20)
 ClinVar
12g.49185877C>ACA384642241TUBA1Ac.489G>T (p.Lys163Asn)
c.384G>T (p.Lys128Asn)
n.1522G>T
c.512G>T (p.Arg171Ile)
c.641G>T (p.Arg214Ile)
12g.49185877C>GCA384642244TUBA1Ac.489G>C (p.Lys163Asn)
c.384G>C (p.Lys128Asn)
n.1522G>C
c.512G>C (p.Arg171Thr)
c.641G>C (p.Arg214Thr)
12g.49185877C>TCA384642246TUBA1Ac.489G>A (p.Lys163=)
c.384G>A (p.Lys128=)
n.1522G>A
c.512G>A (p.Arg171Lys)
c.641G>A (p.Arg214Lys)
12g.49185878T>ACA384642249TUBA1Ac.488A>T (p.Lys163Met)
c.383A>T (p.Lys128Met)
n.1521A>T
c.511A>T (p.Arg171Ter)
c.640A>T (p.Arg214Ter)
12g.49185878T>CCA384642253TUBA1Ac.488A>G (p.Lys163Arg)
c.383A>G (p.Lys128Arg)
n.1521A>G
c.511A>G (p.Arg171Gly)
c.640A>G (p.Arg214Gly)
12g.49185878T>GCA384642256TUBA1Ac.488A>C (p.Lys163Thr)
c.383A>C (p.Lys128Thr)
n.1521A>C
c.511A>C (p.Arg171=)
c.640A>C (p.Arg214=)
12g.49185879T>ACA384642258TUBA1Ac.487A>T (p.Lys163Ter)
c.382A>T (p.Lys128Ter)
n.1520A>T
c.510A>T (p.Ala170=)
c.639A>T (p.Ala213=)
12g.49185879T>CCA384642260TUBA1Ac.487A>G (p.Lys163Glu)
c.382A>G (p.Lys128Glu)
n.1520A>G
c.510A>G (p.Ala170=)
c.639A>G (p.Ala213=)
12g.49185879T>GCA384642263TUBA1Ac.487A>C (p.Lys163Gln)
c.382A>C (p.Lys128Gln)
n.1520A>C
c.510A>C (p.Ala170=)
c.639A>C (p.Ala213=)
12g.49185880G>ACA384642266TUBA1Ac.486C>T (p.Gly162=)
c.381C>T (p.Gly127=)
n.1519C>T
c.509C>T (p.Ala170Val)
c.638C>T (p.Ala213Val)
12g.49185880G>CCA384642270TUBA1Ac.486C>G (p.Gly162=)
c.381C>G (p.Gly127=)
n.1519C>G
c.509C>G (p.Ala170Gly)
c.638C>G (p.Ala213Gly)
 gnomAD v4
12g.49185880G>TCA384642272TUBA1Ac.486C>A (p.Gly162=)
c.381C>A (p.Gly127=)
n.1519C>A
c.509C>A (p.Ala170Glu)
c.638C>A (p.Ala213Glu)
12g.49185881C>ACA384642281TUBA1Ac.485G>T (p.Gly162Val)
c.380G>T (p.Gly127Val)
n.1518G>T
c.508G>T (p.Ala170Ser)
c.637G>T (p.Ala213Ser)
 ClinVar dbSNP
12g.49185881C>GCA384642275TUBA1Ac.485G>C (p.Gly162Ala)
c.380G>C (p.Gly127Ala)
n.1518G>C
c.508G>C (p.Ala170Pro)
c.637G>C (p.Ala213Pro)
12g.49185881C>TCA384642278TUBA1Ac.485G>A (p.Gly162Asp)
c.380G>A (p.Gly127Asp)
n.1518G>A
c.508G>A (p.Ala170Thr)
c.637G>A (p.Ala213Thr)
 ClinVar COSMIC
12g.49185882C>ACA384642283TUBA1Ac.484G>T (p.Gly162Cys)
c.379G>T (p.Gly127Cys)
n.1517G>T
c.507G>T (p.Met169Ile)
c.636G>T (p.Met212Ile)
12g.49185882C>GCA384642285TUBA1Ac.484G>C (p.Gly162Arg)
c.379G>C (p.Gly127Arg)
n.1517G>C
c.507G>C (p.Met169Ile)
c.636G>C (p.Met212Ile)
12g.49185882C>TCA384642288TUBA1Ac.484G>A (p.Gly162Ser)
c.379G>A (p.Gly127Ser)
n.1517G>A
c.507G>A (p.Met169Ile)
c.636G>A (p.Met212Ile)
12g.49185883A=CA2035023105TUBA1Ac.483T= (p.Tyr161=)
c.378T= (p.Tyr126=)
n.1516T=
c.506T= (p.Met169=)
c.635T= (p.Met212=)
12g.49185883A>CCA384642291TUBA1Ac.483T>G (p.Tyr161Ter)
c.378T>G (p.Tyr126Ter)
n.1516T>G
c.506T>G (p.Met169Arg)
c.635T>G (p.Met212Arg)
12g.49185883A>GCA384642293TUBA1Ac.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
12g.49185883A>TCA384642296TUBA1Ac.483T>A (p.Tyr161Ter)
c.378T>A (p.Tyr126Ter)
n.1516T>A
c.506T>A (p.Met169Lys)
c.635T>A (p.Met212Lys)
12g.49185884T>ACA384642298TUBA1Ac.482A>T (p.Tyr161Phe)
c.377A>T (p.Tyr126Phe)
n.1515A>T
c.505A>T (p.Met169Leu)
c.634A>T (p.Met212Leu)
12g.49185884T>CCA384642301TUBA1Ac.482A>G (p.Tyr161Cys)
c.377A>G (p.Tyr126Cys)
n.1515A>G
c.505A>G (p.Met169Val)
c.634A>G (p.Met212Val)
12g.49185884T>GCA384642303TUBA1Ac.482A>C (p.Tyr161Ser)
c.377A>C (p.Tyr126Ser)
n.1515A>C
c.505A>C (p.Met169Leu)
c.634A>C (p.Met212Leu)
12g.49185885A=CA2035023110TUBA1Ac.481T= (p.Tyr161=)
c.376T= (p.Tyr126=)
n.1514T=
c.504T= (p.Ile168=)
c.633T= (p.Ile211=)
12g.49185885A>CCA213269TUBA1Ac.481T>G (p.Tyr161Asp)
c.376T>G (p.Tyr126Asp)
n.1514T>G
c.504T>G (p.Ile168Met)
c.633T>G (p.Ile211Met)
 ClinVar dbSNP
12g.49185885A>GCA384642308TUBA1Ac.481T>C (p.Tyr161His)
c.376T>C (p.Tyr126His)
n.1514T>C
c.504T>C (p.Ile168=)
c.633T>C (p.Ile211=)
 ClinVar dbSNP
12g.49185885A>TCA384642311TUBA1Ac.481T>A (p.Tyr161Asn)
c.376T>A (p.Tyr126Asn)
n.1514T>A
c.504T>A (p.Ile168=)
c.633T>A (p.Ile211=)
12g.49185886A>CCA384642318TUBA1Ac.480T>G (p.Asp160Glu)
c.375T>G (p.Asp125Glu)
n.1513T>G
c.503T>G (p.Ile168Ser)
c.632T>G (p.Ile211Ser)
12g.49185886A>GCA384642317TUBA1Ac.480T>C (p.Asp160=)
c.375T>C (p.Asp125=)
n.1513T>C
c.503T>C (p.Ile168Thr)
c.632T>C (p.Ile211Thr)
12g.49185886A>TCA384642314TUBA1Ac.480T>A (p.Asp160Glu)
c.375T>A (p.Asp125Glu)
n.1513T>A
c.503T>A (p.Ile168Asn)
c.632T>A (p.Ile211Asn)
12g.49185887T>ACA384642329TUBA1Ac.479A>T (p.Asp160Val)
c.374A>T (p.Asp125Val)
n.1512A>T
c.502A>T (p.Ile168Phe)
c.631A>T (p.Ile211Phe)
12g.49185887T>CCA384642322TUBA1Ac.479A>G (p.Asp160Gly)
c.374A>G (p.Asp125Gly)
n.1512A>G
c.502A>G (p.Ile168Val)
c.631A>G (p.Ile211Val)
12g.49185887T>GCA384642327TUBA1Ac.479A>C (p.Asp160Ala)
c.374A>C (p.Asp125Ala)
n.1512A>C
c.502A>C (p.Ile168Leu)
c.631A>C (p.Ile211Leu)
12g.49185888C>ACA384642332TUBA1Ac.478G>T (p.Asp160Tyr)
c.373G>T (p.Asp125Tyr)
n.1511G>T
c.501G>T (p.Leu167Phe)
c.630G>T (p.Leu210Phe)
12g.49185888C>GCA384642335TUBA1Ac.478G>C (p.Asp160His)
c.373G>C (p.Asp125His)
n.1511G>C
c.501G>C (p.Leu167Phe)
c.630G>C (p.Leu210Phe)
12g.49185888C>TCA384642337TUBA1Ac.478G>A (p.Asp160Asn)
c.373G>A (p.Asp125Asn)
n.1511G>A
c.501G>A (p.Leu167=)
c.630G>A (p.Leu210=)
12g.49185889A>CCA384642346TUBA1Ac.477T>G (p.Val159=)
c.372T>G (p.Val124=)
n.1510T>G
c.500T>G (p.Leu167Trp)
c.629T>G (p.Leu210Trp)
12g.49185889A>GCA384642343TUBA1Ac.477T>C (p.Val159=)
c.372T>C (p.Val124=)
n.1510T>C
c.500T>C (p.Leu167Ser)
c.629T>C (p.Leu210Ser)
 gnomAD v4
12g.49185889A>TCA384642340TUBA1Ac.477T>A (p.Val159=)
c.372T>A (p.Val124=)
n.1510T>A
c.500T>A (p.Leu167Ter)
c.629T>A (p.Leu210Ter)
12g.49185890A>CCA384642350TUBA1Ac.476T>G (p.Val159Gly)
c.371T>G (p.Val124Gly)
n.1509T>G
c.499T>G (p.Leu167Val)
c.628T>G (p.Leu210Val)
12g.49185890A>GCA384642353TUBA1Ac.476T>C (p.Val159Ala)
c.371T>C (p.Val124Ala)
n.1509T>C
c.499T>C (p.Leu167=)
c.628T>C (p.Leu210=)
12g.49185890A>TCA384642355TUBA1Ac.476T>A (p.Val159Asp)
c.371T>A (p.Val124Asp)
n.1509T>A
c.499T>A (p.Leu167Met)
c.628T>A (p.Leu210Met)
12g.49185891C>ACA384642359TUBA1Ac.475G>T (p.Val159Phe)
c.370G>T (p.Val124Phe)
n.1508G>T
c.498G>T (p.Gln166His)
c.627G>T (p.Gln209His)
12g.49185891C>GCA384642361TUBA1Ac.475G>C (p.Val159Leu)
c.370G>C (p.Val124Leu)
n.1508G>C
c.498G>C (p.Gln166His)
c.627G>C (p.Gln209His)
12g.49185891C>TCA384642363TUBA1Ac.475G>A (p.Val159Ile)
c.370G>A (p.Val124Ile)
n.1508G>A
c.498G>A (p.Gln166=)
c.627G>A (p.Gln209=)
12g.49185892T>ACA384642367TUBA1Ac.474A>T (p.Ser158=)
c.369A>T (p.Ser123=)
n.1507A>T
c.497A>T (p.Gln166Leu)
c.626A>T (p.Gln209Leu)
12g.49185892T>CCA384642371TUBA1Ac.474A>G (p.Ser158=)
c.369A>G (p.Ser123=)
n.1507A>G
c.497A>G (p.Gln166Arg)
c.626A>G (p.Gln209Arg)
12g.49185892T>GCA384642370TUBA1Ac.474A>C (p.Ser158=)
c.369A>C (p.Ser123=)
n.1507A>C
c.497A>C (p.Gln166Pro)
c.626A>C (p.Gln209Pro)
12g.49185893G>ACA384642375TUBA1Ac.473C>T (p.Ser158Leu)
c.368C>T (p.Ser123Leu)
n.1506C>T
c.496C>T (p.Gln166Ter)
c.625C>T (p.Gln209Ter)
 ClinVar dbSNP
12g.49185893G>CCA384642378TUBA1Ac.473C>G (p.Ser158Ter)
c.368C>G (p.Ser123Ter)
n.1506C>G
c.496C>G (p.Gln166Glu)
c.625C>G (p.Gln209Glu)
12g.49185893G=CA2035023112TUBA1Ac.473C= (p.Ser158=)
c.368C= (p.Ser123=)
n.1506C=
c.496C= (p.Gln166=)
c.625C= (p.Gln209=)
12g.49185893G>TCA384642381TUBA1Ac.473C>A (p.Ser158Ter)
c.368C>A (p.Ser123Ter)
n.1506C>A
c.496C>A (p.Gln166Lys)
c.625C>A (p.Gln209Lys)
12g.49185894A>CCA384642384TUBA1Ac.472T>G (p.Ser158Ala)
c.367T>G (p.Ser123Ala)
n.1505T>G
c.495T>G (p.Ser165=)
c.624T>G (p.Ser208=)
12g.49185894A>GCA384642387TUBA1Ac.472T>C (p.Ser158Pro)
c.367T>C (p.Ser123Pro)
n.1505T>C
c.495T>C (p.Ser165=)
c.624T>C (p.Ser208=)
12g.49185894A>TCA384642390TUBA1Ac.472T>A (p.Ser158Thr)
c.367T>A (p.Ser123Thr)
n.1505T>A
c.495T>A (p.Ser165=)
c.624T>A (p.Ser208=)
12g.49185895G>ACA6550246TUBA1Ac.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
12g.49185895G>CCA384642393TUBA1Ac.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
12g.49185895G=CA2035023117TUBA1Ac.471C= (p.Leu157=)
c.366C= (p.Leu122=)
n.1504C=
c.494C= (p.Ser165=)
c.623C= (p.Ser208=)
12g.49185895G>TCA384642394TUBA1Ac.471C>A (p.Leu157=)
c.366C>A (p.Leu122=)
n.1504C>A
c.494C>A (p.Ser165Tyr)
c.623C>A (p.Ser208Tyr)
12g.49185896A>CCA384642397TUBA1Ac.470T>G (p.Leu157Arg)
c.365T>G (p.Leu122Arg)
n.1503T>G
c.493T>G (p.Ser165Ala)
c.622T>G (p.Ser208Ala)
12g.49185896A>GCA384642398TUBA1Ac.470T>C (p.Leu157Pro)
c.365T>C (p.Leu122Pro)
n.1503T>C
c.493T>C (p.Ser165Pro)
c.622T>C (p.Ser208Pro)
12g.49185896A>TCA384642400TUBA1Ac.470T>A (p.Leu157His)
c.365T>A (p.Leu122His)
n.1503T>A
c.493T>A (p.Ser165Thr)
c.622T>A (p.Ser208Thr)
12g.49185897G>ACA384642405TUBA1Ac.469C>T (p.Leu157Phe)
c.364C>T (p.Leu122Phe)
n.1502C>T
c.492C>T (p.Val164=)
c.621C>T (p.Val207=)
12g.49185897G>CCA384642408TUBA1Ac.469C>G (p.Leu157Val)
c.364C>G (p.Leu122Val)
n.1502C>G
c.492C>G (p.Val164=)
c.621C>G (p.Val207=)
12g.49185897G>TCA384642403TUBA1Ac.469C>A (p.Leu157Ile)
c.364C>A (p.Leu122Ile)
n.1502C>A
c.492C>A (p.Val164=)
c.621C>A (p.Val207=)
12g.49185898A=CA2035023120TUBA1Ac.468T= (p.Arg156=)
c.363T= (p.Arg121=)
n.1501T=
c.491T= (p.Val164=)
c.620T= (p.Val207=)
12g.49185898A>CCA384642412TUBA1Ac.468T>G (p.Arg156=)
c.363T>G (p.Arg121=)
n.1501T>G
c.491T>G (p.Val164Gly)
c.620T>G (p.Val207Gly)
12g.49185898A>GCA384642413TUBA1Ac.468T>C (p.Arg156=)
c.363T>C (p.Arg121=)
n.1501T>C
c.491T>C (p.Val164Ala)
c.620T>C (p.Val207Ala)
12g.49185898A>TCA384642415TUBA1Ac.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
12g.49185899C>ACA384642417TUBA1Ac.467G>T (p.Arg156Leu)
c.362G>T (p.Arg121Leu)
n.1500G>T
c.490G>T (p.Val164Phe)
c.619G>T (p.Val207Phe)
12g.49185899C=CA2035023124TUBA1Ac.467G= (p.Arg156=)
c.362G= (p.Arg121=)
n.1500G=
c.490G= (p.Val164=)
c.619G= (p.Val207=)
12g.49185899C>GCA384642419TUBA1Ac.467G>C (p.Arg156Pro)
c.362G>C (p.Arg121Pro)
n.1500G>C
c.490G>C (p.Val164Leu)
c.619G>C (p.Val207Leu)
12g.49185899C>TCA384642420TUBA1Ac.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
12g.49185900G>ACA384642427TUBA1Ac.466C>T (p.Arg156Cys)
c.361C>T (p.Arg121Cys)
n.1499C>T
c.489C>T (p.Asn163=)
c.618C>T (p.Asn206=)
12g.49185900G>CCA384642425TUBA1Ac.466C>G (p.Arg156Gly)
c.361C>G (p.Arg121Gly)
n.1499C>G
c.489C>G (p.Asn163Lys)
c.618C>G (p.Asn206Lys)
12g.49185900G>TCA384642423TUBA1Ac.466C>A (p.Arg156Ser)
c.361C>A (p.Arg121Ser)
n.1499C>A
c.489C>A (p.Asn163Lys)
c.618C>A (p.Asn206Lys)
12g.49185901T>ACA384642430TUBA1Ac.465A>T (p.Glu155Asp)
c.360A>T (p.Glu120Asp)
n.1498A>T
c.488A>T (p.Asn163Ile)
c.617A>T (p.Asn206Ile)
12g.49185901T>CCA384642433TUBA1Ac.465A>G (p.Glu155=)
c.360A>G (p.Glu120=)
n.1498A>G
c.488A>G (p.Asn163Ser)
c.617A>G (p.Asn206Ser)
 gnomAD v4
12g.49185901T>GCA384642435TUBA1Ac.465A>C (p.Glu155Asp)
c.360A>C (p.Glu120Asp)
n.1498A>C
c.488A>C (p.Asn163Thr)
c.617A>C (p.Asn206Thr)
12g.49185902T>ACA384642438TUBA1Ac.464A>T (p.Glu155Val)
c.359A>T (p.Glu120Val)
n.1497A>T
c.487A>T (p.Asn163Tyr)
c.616A>T (p.Asn206Tyr)
12g.49185902T>CCA384642441TUBA1Ac.464A>G (p.Glu155Gly)
c.359A>G (p.Glu120Gly)
n.1497A>G
c.487A>G (p.Asn163Asp)
c.616A>G (p.Asn206Asp)
12g.49185902T>GCA384642444TUBA1Ac.464A>C (p.Glu155Ala)
c.359A>C (p.Glu120Ala)
n.1497A>C
c.487A>C (p.Asn163His)
c.616A>C (p.Asn206His)
12g.49185903C>ACA384642448TUBA1Ac.463G>T (p.Glu155Ter)
c.358G>T (p.Glu120Ter)
n.1496G>T
c.486G>T (p.Trp162Cys)
c.615G>T (p.Trp205Cys)
12g.49185903C>GCA384642452TUBA1Ac.463G>C (p.Glu155Gln)
c.358G>C (p.Glu120Gln)
n.1496G>C
c.486G>C (p.Trp162Cys)
c.615G>C (p.Trp205Cys)
12g.49185903C>TCA384642449TUBA1Ac.463G>A (p.Glu155Lys)
c.358G>A (p.Glu120Lys)
n.1496G>A
c.486G>A (p.Trp162Ter)
c.615G>A (p.Trp205Ter)
12g.49185904C>ACA384642459TUBA1Ac.462G>T (p.Met154Ile)
c.357G>T (p.Met119Ile)
n.1495G>T
c.485G>T (p.Trp162Leu)
c.614G>T (p.Trp205Leu)
12g.49185904C>GCA384642462TUBA1Ac.462G>C (p.Met154Ile)
c.357G>C (p.Met119Ile)
n.1495G>C
c.485G>C (p.Trp162Ser)
c.614G>C (p.Trp205Ser)
12g.49185904C>TCA384642464TUBA1Ac.462G>A (p.Met154Ile)
c.357G>A (p.Met119Ile)
n.1495G>A
c.485G>A (p.Trp162Ter)
c.614G>A (p.Trp205Ter)
12g.49185905A>CCA384642466TUBA1Ac.461T>G (p.Met154Arg)
c.356T>G (p.Met119Arg)
n.1494T>G
c.484T>G (p.Trp162Gly)
c.613T>G (p.Trp205Gly)
12g.49185905A>GCA384642468TUBA1Ac.461T>C (p.Met154Thr)
c.356T>C (p.Met119Thr)
n.1494T>C
c.484T>C (p.Trp162Arg)
c.613T>C (p.Trp205Arg)
12g.49185905A>TCA384642470TUBA1Ac.461T>A (p.Met154Lys)
c.356T>A (p.Met119Lys)
n.1494T>A
c.484T>A (p.Trp162Arg)
c.613T>A (p.Trp205Arg)
12g.49185906T>ACA384642472TUBA1Ac.460A>T (p.Met154Leu)
c.355A>T (p.Met119Leu)
n.1493A>T
c.483A>T (p.Ser161=)
c.612A>T (p.Ser204=)
12g.49185906T>CCA384642473TUBA1Ac.460A>G (p.Met154Val)
c.355A>G (p.Met119Val)
n.1493A>G
c.483A>G (p.Ser161=)
c.612A>G (p.Ser204=)
12g.49185906T>GCA384642475TUBA1Ac.460A>C (p.Met154Leu)
c.355A>C (p.Met119Leu)
n.1493A>C
c.483A>C (p.Ser161=)
c.612A>C (p.Ser204=)
12g.49185907G>ACA384642477TUBA1Ac.459C>T (p.Leu153=)
c.354C>T (p.Leu118=)
n.1492C>T
c.482C>T (p.Ser161Leu)
c.611C>T (p.Ser204Leu)
12g.49185907G>CCA384642479TUBA1Ac.459C>G (p.Leu153=)
c.354C>G (p.Leu118=)
n.1492C>G
c.482C>G (p.Ser161Ter)
c.611C>G (p.Ser204Ter)
12g.49185907G>TCA384642480TUBA1Ac.459C>A (p.Leu153=)
c.354C>A (p.Leu118=)
n.1492C>A
c.482C>A (p.Ser161Ter)
c.611C>A (p.Ser204Ter)
12g.49185908A>CCA384642483TUBA1Ac.458T>G (p.Leu153Arg)
c.353T>G (p.Leu118Arg)
n.1491T>G
c.481T>G (p.Ser161Ala)
c.610T>G (p.Ser204Ala)
12g.49185908A>GCA384642486TUBA1Ac.458T>C (p.Leu153Pro)
c.353T>C (p.Leu118Pro)
n.1491T>C
c.481T>C (p.Ser161Pro)
c.610T>C (p.Ser204Pro)
12g.49185908A>TCA384642484TUBA1Ac.458T>A (p.Leu153His)
c.353T>A (p.Leu118His)
n.1491T>A
c.481T>A (p.Ser161Thr)
c.610T>A (p.Ser204Thr)
12g.49185909G>ACA384642487TUBA1Ac.457C>T (p.Leu153Phe)
c.352C>T (p.Leu118Phe)
n.1490C>T
c.480C>T (p.Cys160=)
c.609C>T (p.Cys203=)
12g.49185909G>CCA384642488TUBA1Ac.457C>G (p.Leu153Val)
c.352C>G (p.Leu118Val)
n.1490C>G
c.480C>G (p.Cys160Trp)
c.609C>G (p.Cys203Trp)
12g.49185909G>TCA384642490TUBA1Ac.457C>A (p.Leu153Ile)
c.352C>A (p.Leu118Ile)
n.1490C>A
c.480C>A (p.Cys160Ter)
c.609C>A (p.Cys203Ter)
12g.49185910C>ACA384642492TUBA1Ac.456G>T (p.Leu152=)
c.351G>T (p.Leu117=)
n.1489G>T
c.479G>T (p.Cys160Phe)
c.608G>T (p.Cys203Phe)
12g.49185910C=CA2035023127TUBA1Ac.456G= (p.Leu152=)
c.351G= (p.Leu117=)
n.1489G=
c.479G= (p.Cys160=)
c.608G= (p.Cys203=)
12g.49185910C>GCA384642494TUBA1Ac.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
12g.49185910C>TCA384642497TUBA1Ac.456G>A (p.Leu152=)
c.351G>A (p.Leu117=)
n.1489G>A
c.479G>A (p.Cys160Tyr)
c.608G>A (p.Cys203Tyr)
 gnomAD v4
12g.49185911A=CA2035023133TUBA1Ac.455T= (p.Leu152=)
c.350T= (p.Leu117=)
n.1488T=
c.478T= (p.Cys160=)
c.607T= (p.Cys203=)
12g.49185911A>CCA384642499TUBA1Ac.455T>G (p.Leu152Arg)
c.350T>G (p.Leu117Arg)
n.1488T>G
c.478T>G (p.Cys160Gly)
c.607T>G (p.Cys203Gly)
12g.49185911A>GCA384642501TUBA1Ac.455T>C (p.Leu152Pro)
c.350T>C (p.Leu117Pro)
n.1488T>C
c.478T>C (p.Cys160Arg)
c.607T>C (p.Cys203Arg)
12g.49185911A>TCA16606634TUBA1Ac.455T>A (p.Leu152Gln)
c.350T>A (p.Leu117Gln)
n.1488T>A
c.478T>A (p.Cys160Ser)
c.607T>A (p.Cys203Ser)
 ClinVar dbSNP
12g.49185912G>ACA479717458TUBA1Ac.454C>T (p.Leu152=)
c.349C>T (p.Leu117=)
n.1487C>T
c.477C>T (p.Arg159=)
c.606C>T (p.Arg202=)
12g.49185912G>CCA384642505TUBA1Ac.454C>G (p.Leu152Val)
c.349C>G (p.Leu117Val)
n.1487C>G
c.477C>G (p.Arg159=)
c.606C>G (p.Arg202=)
12g.49185912G>TCA384642510TUBA1Ac.454C>A (p.Leu152Met)
c.349C>A (p.Leu117Met)
n.1487C>A
c.477C>A (p.Arg159=)
c.606C>A (p.Arg202=)
12g.49185913C>ACA384642515TUBA1Ac.453G>T (p.Ser151=)
c.348G>T (p.Ser116=)
n.1486G>T
c.476G>T (p.Arg159Leu)
c.605G>T (p.Arg202Leu)
12g.49185913C=CA2035023146TUBA1Ac.453G= (p.Ser151=)
c.348G= (p.Ser116=)
n.1486G=
c.476G= (p.Arg159=)
c.605G= (p.Arg202=)
12g.49185913C>GCA173756TUBA1Ac.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
12g.49185913C>TCA6550247TUBA1Ac.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
12g.49185914G>ACA384642517TUBA1Ac.452C>T (p.Ser151Leu)
c.347C>T (p.Ser116Leu)
n.1485C>T
c.475C>T (p.Arg159Cys)
c.604C>T (p.Arg202Cys)
12g.49185914G>CCA384642520TUBA1Ac.452C>G (p.Ser151Trp)
c.347C>G (p.Ser116Trp)
n.1485C>G
c.475C>G (p.Arg159Gly)
c.604C>G (p.Arg202Gly)
12g.49185914G>TCA384642522TUBA1Ac.452C>A (p.Ser151Ter)
c.347C>A (p.Ser116Ter)
n.1485C>A
c.475C>A (p.Arg159Ser)
c.604C>A (p.Arg202Ser)
12g.49185915A>CCA384642524TUBA1Ac.451T>G (p.Ser151Ala)
c.346T>G (p.Ser116Ala)
n.1484T>G
c.474T>G (p.Pro158=)
c.603T>G (p.Pro201=)
12g.49185915A>GCA384642526TUBA1Ac.451T>C (p.Ser151Pro)
c.346T>C (p.Ser116Pro)
n.1484T>C
c.474T>C (p.Pro158=)
c.603T>C (p.Pro201=)
12g.49185915A>TCA384642529TUBA1Ac.451T>A (p.Ser151Thr)
c.346T>A (p.Ser116Thr)
n.1484T>A
c.474T>A (p.Pro158=)
c.603T>A (p.Pro201=)

Number of alleles fetched