Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2169634_2169678dup | CA597431668 | TH | c.286_312+18dup c.110_*1+18dup c.122_*1+18dup c.367_393+18dup c.379_405+18dup c.298_324+18dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169661T>A | CA379112144 | TH | c.301A>T (p.Lys101Ter) c.125A>T (p.Glu42Val) c.137A>T (p.Glu46Val) c.382A>T (p.Lys128Ter) c.394A>T (p.Lys132Ter) c.313A>T (p.Lys105Ter) | |
11 | g.2169661T>C | CA379112142 | TH | c.301A>G (p.Lys101Glu) c.125A>G (p.Glu42Gly) c.137A>G (p.Glu46Gly) c.382A>G (p.Lys128Glu) c.394A>G (p.Lys132Glu) c.313A>G (p.Lys105Glu) | |
11 | g.2169661T>G | CA379112143 | TH | c.301A>C (p.Lys101Gln) c.125A>C (p.Glu42Ala) c.137A>C (p.Glu46Ala) c.382A>C (p.Lys128Gln) c.394A>C (p.Lys132Gln) c.313A>C (p.Lys105Gln) | |
11 | g.2169662C>A | CA472018731 | TH | c.300G>T (p.Val100=) c.124G>T (p.Glu42Ter) c.136G>T (p.Glu46Ter) c.381G>T (p.Val127=) c.393G>T (p.Val131=) c.312G>T (p.Val104=) | |
11 | g.2169662C>G | CA472018732 | TH | c.300G>C (p.Val100=) c.124G>C (p.Glu42Gln) c.136G>C (p.Glu46Gln) c.381G>C (p.Val127=) c.393G>C (p.Val131=) c.312G>C (p.Val104=) | |
11 | g.2169662C>T | CA472018733 | TH | c.300G>A (p.Val100=) c.124G>A (p.Glu42Lys) c.136G>A (p.Glu46Lys) c.381G>A (p.Val127=) c.393G>A (p.Val131=) c.312G>A (p.Val104=) | |
11 | g.2169663A>C | CA379112145 | TH | c.299T>G (p.Val100Gly) c.123T>G (p.Cys41Trp) c.135T>G (p.Cys45Trp) c.380T>G (p.Val127Gly) c.392T>G (p.Val131Gly) c.311T>G (p.Val104Gly) | |
11 | g.2169663A>G | CA379112146 | TH | c.299T>C (p.Val100Ala) c.123T>C (p.Cys41=) c.135T>C (p.Cys45=) c.380T>C (p.Val127Ala) c.392T>C (p.Val131Ala) c.311T>C (p.Val104Ala) | |
11 | g.2169663A>T | CA379112147 | TH | c.299T>A (p.Val100Glu) c.123T>A (p.Cys41Ter) c.135T>A (p.Cys45Ter) c.380T>A (p.Val127Glu) c.392T>A (p.Val131Glu) c.311T>A (p.Val104Glu) | |
11 | g.2169664C>A | CA379112150 | TH | c.298G>T (p.Val100Leu) c.122G>T (p.Cys41Phe) c.134G>T (p.Cys45Phe) c.379G>T (p.Val127Leu) c.391G>T (p.Val131Leu) c.310G>T (p.Val104Leu) | |
11 | g.2169664C= | CA1948009449 | TH | c.298G= (p.Val100=) c.122G= (p.Cys41=) c.134G= (p.Cys45=) c.379G= (p.Val127=) c.391G= (p.Val131=) c.310G= (p.Val104=) | |
11 | g.2169664C>G | CA379112149 | TH | c.298G>C (p.Val100Leu) c.122G>C (p.Cys41Ser) c.134G>C (p.Cys45Ser) c.379G>C (p.Val127Leu) c.391G>C (p.Val131Leu) c.310G>C (p.Val104Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2169664C>T | CA379112148 | TH | c.298G>A (p.Val100Met) c.122G>A (p.Cys41Tyr) c.134G>A (p.Cys45Tyr) c.379G>A (p.Val127Met) c.391G>A (p.Val131Met) c.310G>A (p.Val104Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169665A= | CA1948009451 | TH | c.297T= (p.Ala99=) c.121T= (p.Cys41=) c.133T= (p.Cys45=) c.378T= (p.Ala126=) c.390T= (p.Ala130=) c.309T= (p.Ala103=) | |
11 | g.2169665A>C | CA472018735 | TH | c.297T>G (p.Ala99=) c.121T>G (p.Cys41Gly) c.133T>G (p.Cys45Gly) c.378T>G (p.Ala126=) c.390T>G (p.Ala130=) c.309T>G (p.Ala103=) | |
11 | g.2169665A>G | CA216227540 | TH | c.297T>C (p.Ala99=) c.121T>C (p.Cys41Arg) c.133T>C (p.Cys45Arg) c.378T>C (p.Ala126=) c.390T>C (p.Ala130=) c.309T>C (p.Ala103=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169665A>T | CA472018734 | TH | c.297T>A (p.Ala99=) c.121T>A (p.Cys41Ser) c.133T>A (p.Cys45Ser) c.378T>A (p.Ala126=) c.390T>A (p.Ala130=) c.309T>A (p.Ala103=) | |
11 | g.2169665dup | CA912971947 | TH | c.297dup (p.Val100CysfsTer5) c.121dup (p.Cys41LeufsTer2) c.133dup (p.Cys45LeufsTer2) c.378dup (p.Val127CysfsTer5) c.390dup (p.Val131CysfsTer5) c.309dup (p.Val104CysfsTer5) | |
11 | g.2169666G>A | CA379112151 | TH | c.296C>T (p.Ala99Val) c.120C>T (p.Ser40=) c.132C>T (p.Ser44=) c.377C>T (p.Ala126Val) c.389C>T (p.Ala130Val) c.308C>T (p.Ala103Val) | |
11 | g.2169666G>C | CA379112152 | TH | c.296C>G (p.Ala99Gly) c.120C>G (p.Ser40Arg) c.132C>G (p.Ser44Arg) c.377C>G (p.Ala126Gly) c.389C>G (p.Ala130Gly) c.308C>G (p.Ala103Gly) | gnomAD v4 |
11 | g.2169666G= | CA1948009455 | TH | c.296C= (p.Ala99=) c.120C= (p.Ser40=) c.132C= (p.Ser44=) c.377C= (p.Ala126=) c.389C= (p.Ala130=) c.308C= (p.Ala103=) | |
11 | g.2169666G>T | CA379112153 | TH | c.296C>A (p.Ala99Asp) c.120C>A (p.Ser40Arg) c.132C>A (p.Ser44Arg) c.377C>A (p.Ala126Asp) c.389C>A (p.Ala130Asp) c.308C>A (p.Ala103Asp) | dbSNP gnomAD v4 |
11 | g.2169669_2169687dup | CA658821339 | TH | c.278_296dup (p.Val100LeufsTer11) c.102_120dup (p.Cys41ProfsTer8) c.114_132dup (p.Cys45ProfsTer8) c.359_377dup (p.Val127LeufsTer11) c.371_389dup (p.Val131LeufsTer11) c.290_308dup (p.Val104LeufsTer11) | ClinVar dbSNP |
11 | g.2169667C>A | CA379112154 | TH | c.295G>T (p.Ala99Ser) c.119G>T (p.Ser40Ile) c.131G>T (p.Ser44Ile) c.376G>T (p.Ala126Ser) c.388G>T (p.Ala130Ser) c.307G>T (p.Ala103Ser) | |
11 | g.2169667C= | CA1948009459 | TH | c.295G= (p.Ala99=) c.119G= (p.Ser40=) c.131G= (p.Ser44=) c.376G= (p.Ala126=) c.388G= (p.Ala130=) c.307G= (p.Ala103=) | |
11 | g.2169667C>G | CA379112155 | TH | c.295G>C (p.Ala99Pro) c.119G>C (p.Ser40Thr) c.131G>C (p.Ser44Thr) c.376G>C (p.Ala126Pro) c.388G>C (p.Ala130Pro) c.307G>C (p.Ala103Pro) | dbSNP |
11 | g.2169667C>T | CA379112156 | TH | c.295G>A (p.Ala99Thr) c.119G>A (p.Ser40Asn) c.131G>A (p.Ser44Asn) c.376G>A (p.Ala126Thr) c.388G>A (p.Ala130Thr) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2169667_2169669dup | CA915948014 | TH | c.293_295dup (p.Arg98_Ala99insGly) c.117_119dup (p.Pro39_Ser40insArg) c.129_131dup (p.Pro43_Ser44insArg) c.374_376dup (p.Arg125_Ala126insGly) c.386_388dup (p.Arg129_Ala130insGly) c.305_307dup (p.Arg102_Ala103insGly) | ClinVar dbSNP |
11 | g.2169668T>A | CA472018737 | TH | c.294A>T (p.Arg98=) c.118A>T (p.Ser40Cys) c.130A>T (p.Ser44Cys) c.375A>T (p.Arg125=) c.387A>T (p.Arg129=) c.306A>T (p.Arg102=) | |
11 | g.2169668T>C | CA472018738 | TH | c.294A>G (p.Arg98=) c.118A>G (p.Ser40Gly) c.130A>G (p.Ser44Gly) c.375A>G (p.Arg125=) c.387A>G (p.Arg129=) c.306A>G (p.Arg102=) | |
11 | g.2169668T>G | CA472018739 | TH | c.294A>C (p.Arg98=) c.118A>C (p.Ser40Arg) c.130A>C (p.Ser44Arg) c.375A>C (p.Arg125=) c.387A>C (p.Arg129=) c.306A>C (p.Arg102=) | |
11 | g.2169669C>A | CA379112157 | TH | c.293G>T (p.Arg98Leu) c.117G>T (p.Pro39=) c.129G>T (p.Pro43=) c.374G>T (p.Arg125Leu) c.386G>T (p.Arg129Leu) c.305G>T (p.Arg102Leu) | |
11 | g.2169669C= | CA1948009462 | TH | c.293G= (p.Arg98=) c.117G= (p.Pro39=) c.129G= (p.Pro43=) c.374G= (p.Arg125=) c.386G= (p.Arg129=) c.305G= (p.Arg102=) | |
11 | g.2169669C>G | CA5818733 | TH | c.293G>C (p.Arg98Pro) c.117G>C (p.Pro39=) c.129G>C (p.Pro43=) c.374G>C (p.Arg125Pro) c.386G>C (p.Arg129Pro) c.305G>C (p.Arg102Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169669C>T | CA5818732 | TH | c.293G>A (p.Arg98Gln) c.117G>A (p.Pro39=) c.129G>A (p.Pro43=) c.374G>A (p.Arg125Gln) c.386G>A (p.Arg129Gln) c.305G>A (p.Arg102Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169670G>A | CA16043869 | TH | c.292C>T (p.Arg98Ter) c.116C>T (p.Pro39Leu) c.128C>T (p.Pro43Leu) c.373C>T (p.Arg125Ter) c.385C>T (p.Arg129Ter) c.304C>T (p.Arg102Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2169670G>C | CA379112158 | TH | c.292C>G (p.Arg98Gly) c.116C>G (p.Pro39Arg) c.128C>G (p.Pro43Arg) c.373C>G (p.Arg125Gly) c.385C>G (p.Arg129Gly) c.304C>G (p.Arg102Gly) | gnomAD v4 |
11 | g.2169670G= | CA1948009465 | TH | c.292C= (p.Arg98=) c.116C= (p.Pro39=) c.128C= (p.Pro43=) c.373C= (p.Arg125=) c.385C= (p.Arg129=) c.304C= (p.Arg102=) | |
11 | g.2169670G>T | CA472018741 | TH | c.292C>A (p.Arg98=) c.116C>A (p.Pro39Gln) c.128C>A (p.Pro43Gln) c.373C>A (p.Arg125=) c.385C>A (p.Arg129=) c.304C>A (p.Arg102=) | gnomAD v4 |
11 | g.2169671_2169672del | CA2580082699 | TH | c.291_292del (p.Arg98SerfsTer6) c.115_116del (p.Pro39GlufsTer3) c.127_128del (p.Pro43GlufsTer3) c.372_373del (p.Arg125SerfsTer6) c.384_385del (p.Arg129SerfsTer6) c.303_304del (p.Arg102SerfsTer6) | ClinVar |
11 | g.2169671G>A | CA472018742 | TH | c.291C>T (p.Ser97=) c.115C>T (p.Pro39Ser) c.127C>T (p.Pro43Ser) c.372C>T (p.Ser124=) c.384C>T (p.Ser128=) c.303C>T (p.Ser101=) | gnomAD v4 |
11 | g.2169671G>C | CA5818734 | TH | c.291C>G (p.Ser97=) c.115C>G (p.Pro39Ala) c.127C>G (p.Pro43Ala) c.372C>G (p.Ser124=) c.384C>G (p.Ser128=) c.303C>G (p.Ser101=) | dbSNP ExAC gnomAD v2 |
11 | g.2169671G= | CA1948009467 | TH | c.291C= (p.Ser97=) c.115C= (p.Pro39=) c.127C= (p.Pro43=) c.372C= (p.Ser124=) c.384C= (p.Ser128=) c.303C= (p.Ser101=) | |
11 | g.2169671G>T | CA472018745 | TH | c.291C>A (p.Ser97=) c.115C>A (p.Pro39Thr) c.127C>A (p.Pro43Thr) c.372C>A (p.Ser124=) c.384C>A (p.Ser128=) c.303C>A (p.Ser101=) | |
11 | g.2169672G>A | CA379112159 | TH | c.290C>T (p.Ser97Phe) c.114C>T (p.Val38=) c.126C>T (p.Val42=) c.371C>T (p.Ser124Phe) c.383C>T (p.Ser128Phe) c.302C>T (p.Ser101Phe) | |
11 | g.2169672G>C | CA379112160 | TH | c.290C>G (p.Ser97Cys) c.114C>G (p.Val38=) c.126C>G (p.Val42=) c.371C>G (p.Ser124Cys) c.383C>G (p.Ser128Cys) c.302C>G (p.Ser101Cys) | |
11 | g.2169672G>T | CA379112161 | TH | c.290C>A (p.Ser97Tyr) c.114C>A (p.Val38=) c.126C>A (p.Val42=) c.371C>A (p.Ser124Tyr) c.383C>A (p.Ser128Tyr) c.302C>A (p.Ser101Tyr) | gnomAD v4 |
11 | g.2169673A>C | CA379112162 | TH | c.289T>G (p.Ser97Ala) c.113T>G (p.Val38Gly) c.125T>G (p.Val42Gly) c.370T>G (p.Ser124Ala) c.382T>G (p.Ser128Ala) c.301T>G (p.Ser101Ala) | |
11 | g.2169673A>G | CA379112163 | TH | c.289T>C (p.Ser97Pro) c.113T>C (p.Val38Ala) c.125T>C (p.Val42Ala) c.370T>C (p.Ser124Pro) c.382T>C (p.Ser128Pro) c.301T>C (p.Ser101Pro) |