Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.8089608A>CCA379562227TUBc.39-2A>C (n.39-2A>C)
c.204-2A>C (n.204-2A>C)
c.57-2A>C (n.57-2A>C)
c.165-2A>C (n.165-2A>C)
c.75-2A>C (n.75-2A>C)
11g.8089608A>GCA379562228TUBc.39-2A>G (n.39-2A>G)
c.204-2A>G (n.204-2A>G)
c.57-2A>G (n.57-2A>G)
c.165-2A>G (n.165-2A>G)
c.75-2A>G (n.75-2A>G)
11g.8089608A>TCA379562229TUBc.39-2A>T (n.39-2A>T)
c.204-2A>T (n.204-2A>T)
c.57-2A>T (n.57-2A>T)
c.165-2A>T (n.165-2A>T)
c.75-2A>T (n.75-2A>T)
11g.8089609G>ACA379562230TUBc.39-1G>A (n.39-1G>A)
c.204-1G>A (n.204-1G>A)
c.57-1G>A (n.57-1G>A)
c.165-1G>A (n.165-1G>A)
c.75-1G>A (n.75-1G>A)
 gnomAD v4
11g.8089609G>CCA379562231TUBc.39-1G>C (n.39-1G>C)
c.204-1G>C (n.204-1G>C)
c.57-1G>C (n.57-1G>C)
c.165-1G>C (n.165-1G>C)
c.75-1G>C (n.75-1G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.8089609G=CA1950952712TUBc.39-1G= (n.39-1G=)
c.204-1G= (n.204-1G=)
c.57-1G= (n.57-1G=)
c.165-1G= (n.165-1G=)
c.75-1G= (n.75-1G=)
11g.8089609G>TCA379562233TUBc.39-1G>T (n.39-1G>T)
c.204-1G>T (n.204-1G>T)
c.57-1G>T (n.57-1G>T)
c.165-1G>T (n.165-1G>T)
c.75-1G>T (n.75-1G>T)
 gnomAD v4
11g.8089610T>ACA379562235TUBc.39T>A (p.Ser13Arg)
c.204T>A (p.Arg68=)
c.57T>A (p.Ser19Arg)
c.165T>A (p.Ser55Arg)
c.75T>A (p.Ser25Arg)
11g.8089610T>CCA473008999TUBc.39T>C (p.Ser13=)
c.204T>C (p.Arg68=)
c.57T>C (p.Ser19=)
c.165T>C (p.Ser55=)
c.75T>C (p.Ser25=)
11g.8089610T>GCA379562237TUBc.39T>G (p.Ser13Arg)
c.204T>G (p.Arg68=)
c.57T>G (p.Ser19Arg)
c.165T>G (p.Ser55Arg)
c.75T>G (p.Ser25Arg)
11g.8089611G>ACA379562244TUBc.40G>A (p.Val14Ile)
c.205G>A (p.Val69Ile)
c.58G>A (p.Val20Ile)
c.166G>A (p.Val56Ile)
c.76G>A (p.Val26Ile)
11g.8089611G>CCA379562242TUBc.40G>C (p.Val14Leu)
c.205G>C (p.Val69Leu)
c.58G>C (p.Val20Leu)
c.166G>C (p.Val56Leu)
c.76G>C (p.Val26Leu)
11g.8089611G>TCA379562239TUBc.40G>T (p.Val14Phe)
c.205G>T (p.Val69Phe)
c.58G>T (p.Val20Phe)
c.166G>T (p.Val56Phe)
c.76G>T (p.Val26Phe)
 gnomAD v4
11g.8089612T>ACA379562249TUBc.41T>A (p.Val14Asp)
c.206T>A (p.Val69Asp)
c.59T>A (p.Val20Asp)
c.167T>A (p.Val56Asp)
c.77T>A (p.Val26Asp)
11g.8089612T>CCA379562250TUBc.41T>C (p.Val14Ala)
c.206T>C (p.Val69Ala)
c.59T>C (p.Val20Ala)
c.167T>C (p.Val56Ala)
c.77T>C (p.Val26Ala)
11g.8089612T>GCA379562251TUBc.41T>G (p.Val14Gly)
c.206T>G (p.Val69Gly)
c.59T>G (p.Val20Gly)
c.167T>G (p.Val56Gly)
c.77T>G (p.Val26Gly)
11g.8089613C>ACA473009000TUBc.42C>A (p.Val14=)
c.207C>A (p.Val69=)
c.60C>A (p.Val20=)
c.168C>A (p.Val56=)
c.78C>A (p.Val26=)
11g.8089613C>GCA473009001TUBc.42C>G (p.Val14=)
c.207C>G (p.Val69=)
c.60C>G (p.Val20=)
c.168C>G (p.Val56=)
c.78C>G (p.Val26=)
11g.8089613C>TCA473009002TUBc.42C>T (p.Val14=)
c.207C>T (p.Val69=)
c.60C>T (p.Val20=)
c.168C>T (p.Val56=)
c.78C>T (p.Val26=)
11g.8089614T>ACA379562253TUBc.43T>A (p.Leu15Ile)
c.208T>A (p.Leu70Ile)
c.61T>A (p.Leu21Ile)
c.169T>A (p.Leu57Ile)
c.79T>A (p.Leu27Ile)
11g.8089614T>CCA473009003TUBc.43T>C (p.Leu15=)
c.208T>C (p.Leu70=)
c.61T>C (p.Leu21=)
c.169T>C (p.Leu57=)
c.79T>C (p.Leu27=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8089614T>GCA379562254TUBc.43T>G (p.Leu15Val)
c.208T>G (p.Leu70Val)
c.61T>G (p.Leu21Val)
c.169T>G (p.Leu57Val)
c.79T>G (p.Leu27Val)
 COSMIC
11g.8089614T=CA1950952714TUBc.43T= (p.Leu15=)
c.208T= (p.Leu70=)
c.61T= (p.Leu21=)
c.169T= (p.Leu57=)
c.79T= (p.Leu27=)
11g.8089615T>ACA379562257TUBc.44T>A (p.Leu15Ter)
c.209T>A (p.Leu70Ter)
c.62T>A (p.Leu21Ter)
c.170T>A (p.Leu57Ter)
c.80T>A (p.Leu27Ter)
11g.8089615T>CCA379562256TUBc.44T>C (p.Leu15Ser)
c.209T>C (p.Leu70Ser)
c.62T>C (p.Leu21Ser)
c.170T>C (p.Leu57Ser)
c.80T>C (p.Leu27Ser)
 ClinVar dbSNP gnomAD v4
11g.8089615T>GCA379562255TUBc.44T>G (p.Leu15Ter)
c.209T>G (p.Leu70Ter)
c.62T>G (p.Leu21Ter)
c.170T>G (p.Leu57Ter)
c.80T>G (p.Leu27Ter)
11g.8089616A=CA1950952717TUBc.45A= (p.Leu15=)
c.210A= (p.Leu70=)
c.63A= (p.Leu21=)
c.171A= (p.Leu57=)
c.81A= (p.Leu27=)
11g.8089616A>CCA5870929TUBc.45A>C (p.Leu15Phe)
c.210A>C (p.Leu70Phe)
c.63A>C (p.Leu21Phe)
c.171A>C (p.Leu57Phe)
c.81A>C (p.Leu27Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089616A>GCA5870930TUBc.45A>G (p.Leu15=)
c.210A>G (p.Leu70=)
c.63A>G (p.Leu21=)
c.171A>G (p.Leu57=)
c.81A>G (p.Leu27=)
 dbSNP ExAC gnomAD v2
11g.8089616A>TCA379562258TUBc.45A>T (p.Leu15Phe)
c.210A>T (p.Leu70Phe)
c.63A>T (p.Leu21Phe)
c.171A>T (p.Leu57Phe)
c.81A>T (p.Leu27Phe)
11g.8089617G>ACA379562259TUBc.46G>A (p.Asp16Asn)
c.211G>A (p.Asp71Asn)
c.64G>A (p.Asp22Asn)
c.172G>A (p.Asp58Asn)
c.82G>A (p.Asp28Asn)
11g.8089617G>CCA379562261TUBc.46G>C (p.Asp16His)
c.211G>C (p.Asp71His)
c.64G>C (p.Asp22His)
c.172G>C (p.Asp58His)
c.82G>C (p.Asp28His)
11g.8089617G>TCA379562263TUBc.46G>T (p.Asp16Tyr)
c.211G>T (p.Asp71Tyr)
c.64G>T (p.Asp22Tyr)
c.172G>T (p.Asp58Tyr)
c.82G>T (p.Asp28Tyr)
11g.8089622_8089624delCA2612330360TUBc.51_53del (p.Asp17del)
c.216_218del (p.Asp72del)
c.69_71del (p.Asp23del)
c.177_179del (p.Asp59del)
c.87_89del (p.Asp29del)
 gnomAD v4
11g.8089618A=CA1950952722TUBc.47A= (p.Asp16=)
c.212A= (p.Asp71=)
c.65A= (p.Asp22=)
c.173A= (p.Asp58=)
c.83A= (p.Asp28=)
11g.8089618A>CCA379562270TUBc.47A>C (p.Asp16Ala)
c.212A>C (p.Asp71Ala)
c.65A>C (p.Asp22Ala)
c.173A>C (p.Asp58Ala)
c.83A>C (p.Asp28Ala)
 dbSNP
11g.8089618A>GCA379562266TUBc.47A>G (p.Asp16Gly)
c.212A>G (p.Asp71Gly)
c.65A>G (p.Asp22Gly)
c.173A>G (p.Asp58Gly)
c.83A>G (p.Asp28Gly)
 gnomAD v4
11g.8089618A>TCA379562268TUBc.47A>T (p.Asp16Val)
c.212A>T (p.Asp71Val)
c.65A>T (p.Asp22Val)
c.173A>T (p.Asp58Val)
c.83A>T (p.Asp28Val)
 gnomAD v4
11g.8089619T>ACA379562271TUBc.48T>A (p.Asp16Glu)
c.213T>A (p.Asp71Glu)
c.66T>A (p.Asp22Glu)
c.174T>A (p.Asp58Glu)
c.84T>A (p.Asp28Glu)
11g.8089619T>CCA473009004TUBc.48T>C (p.Asp16=)
c.213T>C (p.Asp71=)
c.66T>C (p.Asp22=)
c.174T>C (p.Asp58=)
c.84T>C (p.Asp28=)
 gnomAD v4
11g.8089619T>GCA379562273TUBc.48T>G (p.Asp16Glu)
c.213T>G (p.Asp71Glu)
c.66T>G (p.Asp22Glu)
c.174T>G (p.Asp58Glu)
c.84T>G (p.Asp28Glu)
11g.8089620G>ACA379562275TUBc.49G>A (p.Asp17Asn)
c.214G>A (p.Asp72Asn)
c.67G>A (p.Asp23Asn)
c.175G>A (p.Asp59Asn)
c.85G>A (p.Asp29Asn)
 gnomAD v4
11g.8089620G>CCA5870931TUBc.49G>C (p.Asp17His)
c.214G>C (p.Asp72His)
c.67G>C (p.Asp23His)
c.175G>C (p.Asp59His)
c.85G>C (p.Asp29His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089620G=CA1950952725TUBc.49G= (p.Asp17=)
c.214G= (p.Asp72=)
c.67G= (p.Asp23=)
c.175G= (p.Asp59=)
c.85G= (p.Asp29=)
11g.8089620G>TCA379562276TUBc.49G>T (p.Asp17Tyr)
c.214G>T (p.Asp72Tyr)
c.67G>T (p.Asp23Tyr)
c.175G>T (p.Asp59Tyr)
c.85G>T (p.Asp29Tyr)
11g.8089621A>CCA379562277TUBc.50A>C (p.Asp17Ala)
c.215A>C (p.Asp72Ala)
c.68A>C (p.Asp23Ala)
c.176A>C (p.Asp59Ala)
c.86A>C (p.Asp29Ala)
11g.8089621A>GCA379562278TUBc.50A>G (p.Asp17Gly)
c.215A>G (p.Asp72Gly)
c.68A>G (p.Asp23Gly)
c.176A>G (p.Asp59Gly)
c.86A>G (p.Asp29Gly)
11g.8089621A>TCA379562279TUBc.50A>T (p.Asp17Val)
c.215A>T (p.Asp72Val)
c.68A>T (p.Asp23Val)
c.176A>T (p.Asp59Val)
c.86A>T (p.Asp29Val)
 gnomAD v4
11g.8089622T>ACA379562285TUBc.51T>A (p.Asp17Glu)
c.216T>A (p.Asp72Glu)
c.69T>A (p.Asp23Glu)
c.177T>A (p.Asp59Glu)
c.87T>A (p.Asp29Glu)
11g.8089622T>CCA473009005TUBc.51T>C (p.Asp17=)
c.216T>C (p.Asp72=)
c.69T>C (p.Asp23=)
c.177T>C (p.Asp59=)
c.87T>C (p.Asp29=)
 ClinVar dbSNP
11g.8089622T>GCA379562286TUBc.51T>G (p.Asp17Glu)
c.216T>G (p.Asp72Glu)
c.69T>G (p.Asp23Glu)
c.177T>G (p.Asp59Glu)
c.87T>G (p.Asp29Glu)
11g.8089622T=CA1950952728TUBc.51T= (p.Asp17=)
c.216T= (p.Asp72=)
c.69T= (p.Asp23=)
c.177T= (p.Asp59=)
c.87T= (p.Asp29=)
11g.8089623G>ACA379562287TUBc.52G>A (p.Glu18Lys)
c.217G>A (p.Glu73Lys)
c.70G>A (p.Glu24Lys)
c.178G>A (p.Glu60Lys)
c.88G>A (p.Glu30Lys)
 ClinVar dbSNP
11g.8089623G>CCA5870932TUBc.52G>C (p.Glu18Gln)
c.217G>C (p.Glu73Gln)
c.70G>C (p.Glu24Gln)
c.178G>C (p.Glu60Gln)
c.88G>C (p.Glu30Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089623G=CA1950952731TUBc.52G= (p.Glu18=)
c.217G= (p.Glu73=)
c.70G= (p.Glu24=)
c.178G= (p.Glu60=)
c.88G= (p.Glu30=)
11g.8089623G>TCA379562289TUBc.52G>T (p.Glu18Ter)
c.217G>T (p.Glu73Ter)
c.70G>T (p.Glu24Ter)
c.178G>T (p.Glu60Ter)
c.88G>T (p.Glu30Ter)
11g.8089624A>CCA379562292TUBc.53A>C (p.Glu18Ala)
c.218A>C (p.Glu73Ala)
c.71A>C (p.Glu24Ala)
c.179A>C (p.Glu60Ala)
c.89A>C (p.Glu30Ala)
 gnomAD v4
11g.8089624A>GCA379562295TUBc.53A>G (p.Glu18Gly)
c.218A>G (p.Glu73Gly)
c.71A>G (p.Glu24Gly)
c.179A>G (p.Glu60Gly)
c.89A>G (p.Glu30Gly)
11g.8089624A>TCA379562294TUBc.53A>T (p.Glu18Val)
c.218A>T (p.Glu73Val)
c.71A>T (p.Glu24Val)
c.179A>T (p.Glu60Val)
c.89A>T (p.Glu30Val)
11g.8089625G>ACA473009006TUBc.54G>A (p.Glu18=)
c.219G>A (p.Glu73=)
c.72G>A (p.Glu24=)
c.180G>A (p.Glu60=)
c.90G>A (p.Glu30=)
11g.8089625G>CCA379562298TUBc.54G>C (p.Glu18Asp)
c.219G>C (p.Glu73Asp)
c.72G>C (p.Glu24Asp)
c.180G>C (p.Glu60Asp)
c.90G>C (p.Glu30Asp)
11g.8089625G>TCA379562300TUBc.54G>T (p.Glu18Asp)
c.219G>T (p.Glu73Asp)
c.72G>T (p.Glu24Asp)
c.180G>T (p.Glu60Asp)
c.90G>T (p.Glu30Asp)
 gnomAD v4
11g.8089626G>ACA379562303TUBc.55G>A (p.Gly19Ser)
c.220G>A (p.Gly74Ser)
c.73G>A (p.Gly25Ser)
c.181G>A (p.Gly61Ser)
c.91G>A (p.Gly31Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8089626G>CCA379562304TUBc.55G>C (p.Gly19Arg)
c.220G>C (p.Gly74Arg)
c.73G>C (p.Gly25Arg)
c.181G>C (p.Gly61Arg)
c.91G>C (p.Gly31Arg)
11g.8089626G=CA1950952740TUBc.55G= (p.Gly19=)
c.220G= (p.Gly74=)
c.73G= (p.Gly25=)
c.181G= (p.Gly61=)
c.91G= (p.Gly31=)
11g.8089626G>TCA379562306TUBc.55G>T (p.Gly19Cys)
c.220G>T (p.Gly74Cys)
c.73G>T (p.Gly25Cys)
c.181G>T (p.Gly61Cys)
c.91G>T (p.Gly31Cys)
11g.8089627G>ACA379562308TUBc.56G>A (p.Gly19Asp)
c.221G>A (p.Gly74Asp)
c.74G>A (p.Gly25Asp)
c.182G>A (p.Gly61Asp)
c.92G>A (p.Gly31Asp)
 gnomAD v4
11g.8089627G>CCA379562315TUBc.56G>C (p.Gly19Ala)
c.221G>C (p.Gly74Ala)
c.74G>C (p.Gly25Ala)
c.182G>C (p.Gly61Ala)
c.92G>C (p.Gly31Ala)
11g.8089627G>TCA379562317TUBc.56G>T (p.Gly19Val)
c.221G>T (p.Gly74Val)
c.74G>T (p.Gly25Val)
c.182G>T (p.Gly61Val)
c.92G>T (p.Gly31Val)
11g.8089628C>ACA473009007TUBc.57C>A (p.Gly19=)
c.222C>A (p.Gly74=)
c.75C>A (p.Gly25=)
c.183C>A (p.Gly61=)
c.93C>A (p.Gly31=)
11g.8089628C=CA1950952744TUBc.57C= (p.Gly19=)
c.222C= (p.Gly74=)
c.75C= (p.Gly25=)
c.183C= (p.Gly61=)
c.93C= (p.Gly31=)
11g.8089628C>GCA473009008TUBc.57C>G (p.Gly19=)
c.222C>G (p.Gly74=)
c.75C>G (p.Gly25=)
c.183C>G (p.Gly61=)
c.93C>G (p.Gly31=)
11g.8089628C>TCA5870933TUBc.57C>T (p.Gly19=)
c.222C>T (p.Gly74=)
c.75C>T (p.Gly25=)
c.183C>T (p.Gly61=)
c.93C>T (p.Gly31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089629A>CCA473009009TUBc.58A>C (p.Arg20=)
c.223A>C (p.Arg75=)
c.76A>C (p.Arg26=)
c.184A>C (p.Arg62=)
c.94A>C (p.Arg32=)
11g.8089629A>GCA379562318TUBc.58A>G (p.Arg20Gly)
c.223A>G (p.Arg75Gly)
c.76A>G (p.Arg26Gly)
c.184A>G (p.Arg62Gly)
c.94A>G (p.Arg32Gly)
 dbSNP
11g.8089629A>TCA379562320TUBc.58A>T (p.Arg20Ter)
c.223A>T (p.Arg75Ter)
c.76A>T (p.Arg26Ter)
c.184A>T (p.Arg62Ter)
c.94A>T (p.Arg32Ter)
11g.8089630G>ACA379562326TUBc.59G>A (p.Arg20Lys)
c.224G>A (p.Arg75Lys)
c.77G>A (p.Arg26Lys)
c.185G>A (p.Arg62Lys)
c.95G>A (p.Arg32Lys)
11g.8089630G>CCA379562324TUBc.59G>C (p.Arg20Thr)
c.224G>C (p.Arg75Thr)
c.77G>C (p.Arg26Thr)
c.185G>C (p.Arg62Thr)
c.95G>C (p.Arg32Thr)
11g.8089630G>TCA379562321TUBc.59G>T (p.Arg20Ile)
c.224G>T (p.Arg75Ile)
c.77G>T (p.Arg26Ile)
c.185G>T (p.Arg62Ile)
c.95G>T (p.Arg32Ile)
11g.8089631A=CA1950952748TUBc.60A= (p.Arg20=)
c.225A= (p.Arg75=)
c.78A= (p.Arg26=)
c.186A= (p.Arg62=)
c.96A= (p.Arg32=)
11g.8089631A>CCA379562329TUBc.60A>C (p.Arg20Ser)
c.225A>C (p.Arg75Ser)
c.78A>C (p.Arg26Ser)
c.186A>C (p.Arg62Ser)
c.96A>C (p.Arg32Ser)
 dbSNP
11g.8089631A>GCA473009010TUBc.60A>G (p.Arg20=)
c.225A>G (p.Arg75=)
c.78A>G (p.Arg26=)
c.186A>G (p.Arg62=)
c.96A>G (p.Arg32=)
11g.8089631A>TCA379562333TUBc.60A>T (p.Arg20Ser)
c.225A>T (p.Arg75Ser)
c.78A>T (p.Arg26Ser)
c.186A>T (p.Arg62Ser)
c.96A>T (p.Arg32Ser)
11g.8089632A>CCA379562335TUBc.61A>C (p.Asn21His)
c.226A>C (p.Asn76His)
c.79A>C (p.Asn27His)
c.187A>C (p.Asn63His)
c.97A>C (p.Asn33His)
11g.8089632A>GCA379562337TUBc.61A>G (p.Asn21Asp)
c.226A>G (p.Asn76Asp)
c.79A>G (p.Asn27Asp)
c.187A>G (p.Asn63Asp)
c.97A>G (p.Asn33Asp)
11g.8089632A>TCA379562338TUBc.61A>T (p.Asn21Tyr)
c.226A>T (p.Asn76Tyr)
c.79A>T (p.Asn27Tyr)
c.187A>T (p.Asn63Tyr)
c.97A>T (p.Asn33Tyr)
11g.8089633A>CCA379562340TUBc.62A>C (p.Asn21Thr)
c.227A>C (p.Asn76Thr)
c.80A>C (p.Asn27Thr)
c.188A>C (p.Asn63Thr)
c.98A>C (p.Asn33Thr)
11g.8089633A>GCA379562341TUBc.62A>G (p.Asn21Ser)
c.227A>G (p.Asn76Ser)
c.80A>G (p.Asn27Ser)
c.188A>G (p.Asn63Ser)
c.98A>G (p.Asn33Ser)
11g.8089633A>TCA379562342TUBc.62A>T (p.Asn21Ile)
c.227A>T (p.Asn76Ile)
c.80A>T (p.Asn27Ile)
c.188A>T (p.Asn63Ile)
c.98A>T (p.Asn33Ile)
11g.8089634C>ACA379562345TUBc.63C>A (p.Asn21Lys)
c.228C>A (p.Asn76Lys)
c.81C>A (p.Asn27Lys)
c.189C>A (p.Asn63Lys)
c.99C>A (p.Asn33Lys)
11g.8089634C>GCA379562347TUBc.63C>G (p.Asn21Lys)
c.228C>G (p.Asn76Lys)
c.81C>G (p.Asn27Lys)
c.189C>G (p.Asn63Lys)
c.99C>G (p.Asn33Lys)
11g.8089634C>TCA473009011TUBc.63C>T (p.Asn21=)
c.228C>T (p.Asn76=)
c.81C>T (p.Asn27=)
c.189C>T (p.Asn63=)
c.99C>T (p.Asn33=)
11g.8089635C>ACA379562348TUBc.64C>A (p.Leu22Met)
c.229C>A (p.Leu77Met)
c.82C>A (p.Leu28Met)
c.190C>A (p.Leu64Met)
c.100C>A (p.Leu34Met)
11g.8089635C>GCA379562350TUBc.64C>G (p.Leu22Val)
c.229C>G (p.Leu77Val)
c.82C>G (p.Leu28Val)
c.190C>G (p.Leu64Val)
c.100C>G (p.Leu34Val)
11g.8089635C>TCA473009012TUBc.64C>T (p.Leu22=)
c.229C>T (p.Leu77=)
c.82C>T (p.Leu28=)
c.190C>T (p.Leu64=)
c.100C>T (p.Leu34=)
11g.8089636T>ACA379562354TUBc.65T>A (p.Leu22Gln)
c.230T>A (p.Leu77Gln)
c.83T>A (p.Leu28Gln)
c.191T>A (p.Leu64Gln)
c.101T>A (p.Leu34Gln)
11g.8089636T>CCA379562353TUBc.65T>C (p.Leu22Pro)
c.230T>C (p.Leu77Pro)
c.83T>C (p.Leu28Pro)
c.191T>C (p.Leu64Pro)
c.101T>C (p.Leu34Pro)
11g.8089636T>GCA379562352TUBc.65T>G (p.Leu22Arg)
c.230T>G (p.Leu77Arg)
c.83T>G (p.Leu28Arg)
c.191T>G (p.Leu64Arg)
c.101T>G (p.Leu34Arg)
11g.8089637G>ACA473009013TUBc.66G>A (p.Leu22=)
c.231G>A (p.Leu77=)
c.84G>A (p.Leu28=)
c.192G>A (p.Leu64=)
c.102G>A (p.Leu34=)
 COSMIC
11g.8089637G>CCA473009014TUBc.66G>C (p.Leu22=)
c.231G>C (p.Leu77=)
c.84G>C (p.Leu28=)
c.192G>C (p.Leu64=)
c.102G>C (p.Leu34=)
11g.8089637G>TCA473009015TUBc.66G>T (p.Leu22=)
c.231G>T (p.Leu77=)
c.84G>T (p.Leu28=)
c.192G>T (p.Leu64=)
c.102G>T (p.Leu34=)
11g.8089638A>CCA473009016TUBc.67A>C (p.Arg23=)
c.232A>C (p.Arg78=)
c.85A>C (p.Arg29=)
c.193A>C (p.Arg65=)
c.103A>C (p.Arg35=)
11g.8089638A>GCA379562356TUBc.67A>G (p.Arg23Gly)
c.232A>G (p.Arg78Gly)
c.85A>G (p.Arg29Gly)
c.193A>G (p.Arg65Gly)
c.103A>G (p.Arg35Gly)
11g.8089638A>TCA379562357TUBc.67A>T (p.Arg23Trp)
c.232A>T (p.Arg78Trp)
c.85A>T (p.Arg29Trp)
c.193A>T (p.Arg65Trp)
c.103A>T (p.Arg35Trp)
11g.8089639G>ACA379562360TUBc.68G>A (p.Arg23Lys)
c.233G>A (p.Arg78Lys)
c.86G>A (p.Arg29Lys)
c.194G>A (p.Arg65Lys)
c.104G>A (p.Arg35Lys)
11g.8089639G>CCA379562363TUBc.68G>C (p.Arg23Thr)
c.233G>C (p.Arg78Thr)
c.86G>C (p.Arg29Thr)
c.194G>C (p.Arg65Thr)
c.104G>C (p.Arg35Thr)
11g.8089639G=CA1950952753TUBc.68G= (p.Arg23=)
c.233G= (p.Arg78=)
c.86G= (p.Arg29=)
c.194G= (p.Arg65=)
c.104G= (p.Arg35=)
11g.8089639G>TCA217415090TUBc.68G>T (p.Arg23Met)
c.233G>T (p.Arg78Met)
c.86G>T (p.Arg29Met)
c.194G>T (p.Arg65Met)
c.104G>T (p.Arg35Met)
 dbSNP
11g.8089640G>ACA473009017TUBc.69G>A (p.Arg23=)
c.234G>A (p.Arg78=)
c.87G>A (p.Arg29=)
c.195G>A (p.Arg65=)
c.105G>A (p.Arg35=)
11g.8089640G>CCA379562367TUBc.69G>C (p.Arg23Ser)
c.234G>C (p.Arg78Ser)
c.87G>C (p.Arg29Ser)
c.195G>C (p.Arg65Ser)
c.105G>C (p.Arg35Ser)
11g.8089640G>TCA379562369TUBc.69G>T (p.Arg23Ser)
c.234G>T (p.Arg78Ser)
c.87G>T (p.Arg29Ser)
c.195G>T (p.Arg65Ser)
c.105G>T (p.Arg35Ser)
11g.8089641C>ACA379562371TUBc.70C>A (p.Gln24Lys)
c.235C>A (p.Gln79Lys)
c.88C>A (p.Gln30Lys)
c.196C>A (p.Gln66Lys)
c.106C>A (p.Gln36Lys)
11g.8089641C>GCA379562375TUBc.70C>G (p.Gln24Glu)
c.235C>G (p.Gln79Glu)
c.88C>G (p.Gln30Glu)
c.196C>G (p.Gln66Glu)
c.106C>G (p.Gln36Glu)
11g.8089641C>TCA379562373TUBc.70C>T (p.Gln24Ter)
c.235C>T (p.Gln79Ter)
c.88C>T (p.Gln30Ter)
c.196C>T (p.Gln66Ter)
c.106C>T (p.Gln36Ter)
11g.8089642A>CCA379562376TUBc.71A>C (p.Gln24Pro)
c.236A>C (p.Gln79Pro)
c.89A>C (p.Gln30Pro)
c.197A>C (p.Gln66Pro)
c.107A>C (p.Gln36Pro)
11g.8089642A>GCA379562378TUBc.71A>G (p.Gln24Arg)
c.236A>G (p.Gln79Arg)
c.89A>G (p.Gln30Arg)
c.197A>G (p.Gln66Arg)
c.107A>G (p.Gln36Arg)
 ClinVar
11g.8089642A>TCA379562377TUBc.71A>T (p.Gln24Leu)
c.236A>T (p.Gln79Leu)
c.89A>T (p.Gln30Leu)
c.197A>T (p.Gln66Leu)
c.107A>T (p.Gln36Leu)
11g.8089643G>ACA5870934TUBc.72G>A (p.Gln24=)
c.237G>A (p.Gln79=)
c.90G>A (p.Gln30=)
c.198G>A (p.Gln66=)
c.108G>A (p.Gln36=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089643G>CCA379562381TUBc.72G>C (p.Gln24His)
c.237G>C (p.Gln79His)
c.90G>C (p.Gln30His)
c.198G>C (p.Gln66His)
c.108G>C (p.Gln36His)
11g.8089643G=CA1950952757TUBc.72G= (p.Gln24=)
c.237G= (p.Gln79=)
c.90G= (p.Gln30=)
c.198G= (p.Gln66=)
c.108G= (p.Gln36=)
11g.8089643G>TCA379562380TUBc.72G>T (p.Gln24His)
c.237G>T (p.Gln79His)
c.90G>T (p.Gln30His)
c.198G>T (p.Gln66His)
c.108G>T (p.Gln36His)
11g.8089644C>ACA379562382TUBc.73C>A (p.Gln25Lys)
c.238C>A (p.Gln80Lys)
c.91C>A (p.Gln31Lys)
c.199C>A (p.Gln67Lys)
c.109C>A (p.Gln37Lys)
11g.8089644C>GCA379562384TUBc.73C>G (p.Gln25Glu)
c.238C>G (p.Gln80Glu)
c.91C>G (p.Gln31Glu)
c.199C>G (p.Gln67Glu)
c.109C>G (p.Gln37Glu)
 gnomAD v4
11g.8089644C>TCA379562383TUBc.73C>T (p.Gln25Ter)
c.238C>T (p.Gln80Ter)
c.91C>T (p.Gln31Ter)
c.199C>T (p.Gln67Ter)
c.109C>T (p.Gln37Ter)
11g.8089645A>CCA379562385TUBc.74A>C (p.Gln25Pro)
c.239A>C (p.Gln80Pro)
c.92A>C (p.Gln31Pro)
c.200A>C (p.Gln67Pro)
c.110A>C (p.Gln37Pro)
11g.8089645A>GCA379562388TUBc.74A>G (p.Gln25Arg)
c.239A>G (p.Gln80Arg)
c.92A>G (p.Gln31Arg)
c.200A>G (p.Gln67Arg)
c.110A>G (p.Gln37Arg)
11g.8089645A>TCA379562387TUBc.74A>T (p.Gln25Leu)
c.239A>T (p.Gln80Leu)
c.92A>T (p.Gln31Leu)
c.200A>T (p.Gln67Leu)
c.110A>T (p.Gln37Leu)
11g.8089646G>ACA473009018TUBc.75G>A (p.Gln25=)
c.240G>A (p.Gln80=)
c.93G>A (p.Gln31=)
c.201G>A (p.Gln67=)
c.111G>A (p.Gln37=)
11g.8089646G>CCA379562390TUBc.75G>C (p.Gln25His)
c.240G>C (p.Gln80His)
c.93G>C (p.Gln31His)
c.201G>C (p.Gln67His)
c.111G>C (p.Gln37His)
11g.8089646G>TCA379562394TUBc.75G>T (p.Gln25His)
c.240G>T (p.Gln80His)
c.93G>T (p.Gln31His)
c.201G>T (p.Gln67His)
c.111G>T (p.Gln37His)
11g.8089647A=CA1950952760TUBc.76A= (p.Lys26=)
c.241A= (p.Lys81=)
c.94A= (p.Lys32=)
c.202A= (p.Lys68=)
c.112A= (p.Lys38=)
11g.8089647A>CCA379562397TUBc.76A>C (p.Lys26Gln)
c.241A>C (p.Lys81Gln)
c.94A>C (p.Lys32Gln)
c.202A>C (p.Lys68Gln)
c.112A>C (p.Lys38Gln)
 dbSNP
11g.8089647A>GCA379562399TUBc.76A>G (p.Lys26Glu)
c.241A>G (p.Lys81Glu)
c.94A>G (p.Lys32Glu)
c.202A>G (p.Lys68Glu)
c.112A>G (p.Lys38Glu)
11g.8089647A>TCA379562401TUBc.76A>T (p.Lys26Ter)
c.241A>T (p.Lys81Ter)
c.94A>T (p.Lys32Ter)
c.202A>T (p.Lys68Ter)
c.112A>T (p.Lys38Ter)
11g.8089648A>CCA379562403TUBc.77A>C (p.Lys26Thr)
c.242A>C (p.Lys81Thr)
c.95A>C (p.Lys32Thr)
c.203A>C (p.Lys68Thr)
c.113A>C (p.Lys38Thr)
11g.8089648A>GCA379562405TUBc.77A>G (p.Lys26Arg)
c.242A>G (p.Lys81Arg)
c.95A>G (p.Lys32Arg)
c.203A>G (p.Lys68Arg)
c.113A>G (p.Lys38Arg)
11g.8089648A>TCA379562406TUBc.77A>T (p.Lys26Met)
c.242A>T (p.Lys81Met)
c.95A>T (p.Lys32Met)
c.203A>T (p.Lys68Met)
c.113A>T (p.Lys38Met)
11g.8089649G>ACA5870935TUBc.78G>A (p.Lys26=)
c.243G>A (p.Lys81=)
c.96G>A (p.Lys32=)
c.204G>A (p.Lys68=)
c.114G>A (p.Lys38=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089649G>CCA5870936TUBc.78G>C (p.Lys26Asn)
c.243G>C (p.Lys81Asn)
c.96G>C (p.Lys32Asn)
c.204G>C (p.Lys68Asn)
c.114G>C (p.Lys38Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089649G=CA1950952763TUBc.78G= (p.Lys26=)
c.243G= (p.Lys81=)
c.96G= (p.Lys32=)
c.204G= (p.Lys68=)
c.114G= (p.Lys38=)
11g.8089649G>TCA379562407TUBc.78G>T (p.Lys26Asn)
c.243G>T (p.Lys81Asn)
c.96G>T (p.Lys32Asn)
c.204G>T (p.Lys68Asn)
c.114G>T (p.Lys38Asn)
 gnomAD v3 gnomAD v4
11g.8089650C>ACA379562411TUBc.79C>A (p.Leu27Ile)
c.244C>A (p.Leu82Ile)
c.97C>A (p.Leu33Ile)
c.205C>A (p.Leu69Ile)
c.115C>A (p.Leu39Ile)
11g.8089650C>GCA379562408TUBc.79C>G (p.Leu27Val)
c.244C>G (p.Leu82Val)
c.97C>G (p.Leu33Val)
c.205C>G (p.Leu69Val)
c.115C>G (p.Leu39Val)
11g.8089650C>TCA379562410TUBc.79C>T (p.Leu27Phe)
c.244C>T (p.Leu82Phe)
c.97C>T (p.Leu33Phe)
c.205C>T (p.Leu69Phe)
c.115C>T (p.Leu39Phe)
 ClinVar
11g.8089651T>ACA379562414TUBc.80T>A (p.Leu27His)
c.245T>A (p.Leu82His)
c.98T>A (p.Leu33His)
c.206T>A (p.Leu69His)
c.116T>A (p.Leu39His)
11g.8089651T>CCA379562416TUBc.80T>C (p.Leu27Pro)
c.245T>C (p.Leu82Pro)
c.98T>C (p.Leu33Pro)
c.206T>C (p.Leu69Pro)
c.116T>C (p.Leu39Pro)
11g.8089651T>GCA379562418TUBc.80T>G (p.Leu27Arg)
c.245T>G (p.Leu82Arg)
c.98T>G (p.Leu33Arg)
c.206T>G (p.Leu69Arg)
c.116T>G (p.Leu39Arg)
11g.8089652T>ACA473009019TUBc.81T>A (p.Leu27=)
c.246T>A (p.Leu82=)
c.99T>A (p.Leu33=)
c.207T>A (p.Leu69=)
c.117T>A (p.Leu39=)
11g.8089652T>CCA473009020TUBc.81T>C (p.Leu27=)
c.246T>C (p.Leu82=)
c.99T>C (p.Leu33=)
c.207T>C (p.Leu69=)
c.117T>C (p.Leu39=)
11g.8089652T>GCA473009021TUBc.81T>G (p.Leu27=)
c.246T>G (p.Leu82=)
c.99T>G (p.Leu33=)
c.207T>G (p.Leu69=)
c.117T>G (p.Leu39=)
 dbSNP gnomAD v2 gnomAD v4
11g.8089652T=CA1950952770TUBc.81T= (p.Leu27=)
c.246T= (p.Leu82=)
c.99T= (p.Leu33=)
c.207T= (p.Leu69=)
c.117T= (p.Leu39=)
11g.8089653G>ACA379562420TUBc.82G>A (p.Asp28Asn)
c.247G>A (p.Asp83Asn)
c.100G>A (p.Asp34Asn)
c.208G>A (p.Asp70Asn)
c.118G>A (p.Asp40Asn)
11g.8089653G>CCA379562422TUBc.82G>C (p.Asp28His)
c.247G>C (p.Asp83His)
c.100G>C (p.Asp34His)
c.208G>C (p.Asp70His)
c.118G>C (p.Asp40His)
 gnomAD v4
11g.8089653G>TCA379562424TUBc.82G>T (p.Asp28Tyr)
c.247G>T (p.Asp83Tyr)
c.100G>T (p.Asp34Tyr)
c.208G>T (p.Asp70Tyr)
c.118G>T (p.Asp40Tyr)
 gnomAD v4
11g.8089654A>CCA379562426TUBc.83A>C (p.Asp28Ala)
c.248A>C (p.Asp83Ala)
c.101A>C (p.Asp34Ala)
c.209A>C (p.Asp70Ala)
c.119A>C (p.Asp40Ala)
11g.8089654A>GCA379562428TUBc.83A>G (p.Asp28Gly)
c.248A>G (p.Asp83Gly)
c.101A>G (p.Asp34Gly)
c.209A>G (p.Asp70Gly)
c.119A>G (p.Asp40Gly)
 ClinVar dbSNP gnomAD v4
11g.8089654A>TCA379562430TUBc.83A>T (p.Asp28Val)
c.248A>T (p.Asp83Val)
c.101A>T (p.Asp34Val)
c.209A>T (p.Asp70Val)
c.119A>T (p.Asp40Val)
11g.8089655T>ACA379562432TUBc.84T>A (p.Asp28Glu)
c.249T>A (p.Asp83Glu)
c.102T>A (p.Asp34Glu)
c.210T>A (p.Asp70Glu)
c.120T>A (p.Asp40Glu)
11g.8089655T>CCA473009022TUBc.84T>C (p.Asp28=)
c.249T>C (p.Asp83=)
c.102T>C (p.Asp34=)
c.210T>C (p.Asp70=)
c.120T>C (p.Asp40=)
 gnomAD v4
11g.8089655T>GCA379562434TUBc.84T>G (p.Asp28Glu)
c.249T>G (p.Asp83Glu)
c.102T>G (p.Asp34Glu)
c.210T>G (p.Asp70Glu)
c.120T>G (p.Asp40Glu)
11g.8089656C>ACA217415099TUBc.85C>A (p.Arg29=)
c.250C>A (p.Arg84=)
c.103C>A (p.Arg35=)
c.211C>A (p.Arg71=)
c.121C>A (p.Arg41=)
 dbSNP COSMIC
11g.8089656C=CA1950952775TUBc.85C= (p.Arg29=)
c.250C= (p.Arg84=)
c.103C= (p.Arg35=)
c.211C= (p.Arg71=)
c.121C= (p.Arg41=)
11g.8089656C>GCA379562437TUBc.85C>G (p.Arg29Gly)
c.250C>G (p.Arg84Gly)
c.103C>G (p.Arg35Gly)
c.211C>G (p.Arg71Gly)
c.121C>G (p.Arg41Gly)
 dbSNP
11g.8089656C>TCA5870937TUBc.85C>T (p.Arg29Trp)
c.250C>T (p.Arg84Trp)
c.103C>T (p.Arg35Trp)
c.211C>T (p.Arg71Trp)
c.121C>T (p.Arg41Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.8089657G>ACA5870938TUBc.86G>A (p.Arg29Gln)
c.251G>A (p.Arg84Gln)
c.104G>A (p.Arg35Gln)
c.212G>A (p.Arg71Gln)
c.122G>A (p.Arg41Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089657G>CCA379562441TUBc.86G>C (p.Arg29Pro)
c.251G>C (p.Arg84Pro)
c.104G>C (p.Arg35Pro)
c.212G>C (p.Arg71Pro)
c.122G>C (p.Arg41Pro)
11g.8089657G=CA1950952777TUBc.86G= (p.Arg29=)
c.251G= (p.Arg84=)
c.104G= (p.Arg35=)
c.212G= (p.Arg71=)
c.122G= (p.Arg41=)
11g.8089657G>TCA379562443TUBc.86G>T (p.Arg29Leu)
c.251G>T (p.Arg84Leu)
c.104G>T (p.Arg35Leu)
c.212G>T (p.Arg71Leu)
c.122G>T (p.Arg41Leu)
11g.8089658G>ACA473009023TUBc.87G>A (p.Arg29=)
c.252G>A (p.Arg84=)
c.105G>A (p.Arg35=)
c.213G>A (p.Arg71=)
c.123G>A (p.Arg41=)
11g.8089658G>CCA473009024TUBc.87G>C (p.Arg29=)
c.252G>C (p.Arg84=)
c.105G>C (p.Arg35=)
c.213G>C (p.Arg71=)
c.123G>C (p.Arg41=)
11g.8089658G>TCA473009025TUBc.87G>T (p.Arg29=)
c.252G>T (p.Arg84=)
c.105G>T (p.Arg35=)
c.213G>T (p.Arg71=)
c.123G>T (p.Arg41=)
11g.8089659C>ACA379562446TUBc.88C>A (p.Gln30Lys)
c.253C>A (p.Gln85Lys)
c.106C>A (p.Gln36Lys)
c.214C>A (p.Gln72Lys)
c.124C>A (p.Gln42Lys)
11g.8089659C>GCA379562447TUBc.88C>G (p.Gln30Glu)
c.253C>G (p.Gln85Glu)
c.106C>G (p.Gln36Glu)
c.214C>G (p.Gln72Glu)
c.124C>G (p.Gln42Glu)
11g.8089659C>TCA379562449TUBc.88C>T (p.Gln30Ter)
c.253C>T (p.Gln85Ter)
c.106C>T (p.Gln36Ter)
c.214C>T (p.Gln72Ter)
c.124C>T (p.Gln42Ter)
11g.8089660A>CCA379562451TUBc.89A>C (p.Gln30Pro)
c.254A>C (p.Gln85Pro)
c.107A>C (p.Gln36Pro)
c.215A>C (p.Gln72Pro)
c.125A>C (p.Gln42Pro)
11g.8089660A>GCA379562453TUBc.89A>G (p.Gln30Arg)
c.254A>G (p.Gln85Arg)
c.107A>G (p.Gln36Arg)
c.215A>G (p.Gln72Arg)
c.125A>G (p.Gln42Arg)
11g.8089660A>TCA379562455TUBc.89A>T (p.Gln30Leu)
c.254A>T (p.Gln85Leu)
c.107A>T (p.Gln36Leu)
c.215A>T (p.Gln72Leu)
c.125A>T (p.Gln42Leu)
11g.8089661G>ACA473009026TUBc.90G>A (p.Gln30=)
c.255G>A (p.Gln85=)
c.108G>A (p.Gln36=)
c.216G>A (p.Gln72=)
c.126G>A (p.Gln42=)
11g.8089661G>CCA379562457TUBc.90G>C (p.Gln30His)
c.255G>C (p.Gln85His)
c.108G>C (p.Gln36His)
c.216G>C (p.Gln72His)
c.126G>C (p.Gln42His)
 gnomAD v4
11g.8089661G>TCA379562459TUBc.90G>T (p.Gln30His)
c.255G>T (p.Gln85His)
c.108G>T (p.Gln36His)
c.216G>T (p.Gln72His)
c.126G>T (p.Gln42His)
11g.8089662G>ACA379562465TUBc.90+1G>A (n.90+1G>A)
c.255+1G>A (n.255+1G>A)
c.108+1G>A (n.108+1G>A)
c.216+1G>A (n.216+1G>A)
c.126+1G>A (n.126+1G>A)
11g.8089662G>CCA379562463TUBc.90+1G>C (n.90+1G>C)
c.255+1G>C (n.255+1G>C)
c.108+1G>C (n.108+1G>C)
c.216+1G>C (n.216+1G>C)
c.126+1G>C (n.126+1G>C)
11g.8089662G>TCA379562461TUBc.90+1G>T (n.90+1G>T)
c.255+1G>T (n.255+1G>T)
c.108+1G>T (n.108+1G>T)
c.216+1G>T (n.216+1G>T)
c.126+1G>T (n.126+1G>T)
11g.8089663T>ACA379562468TUBc.90+2T>A (n.90+2T>A)
c.255+2T>A (n.255+2T>A)
c.108+2T>A (n.108+2T>A)
c.216+2T>A (n.216+2T>A)
c.126+2T>A (n.126+2T>A)
11g.8089663T>CCA379562470TUBc.90+2T>C (n.90+2T>C)
c.255+2T>C (n.255+2T>C)
c.108+2T>C (n.108+2T>C)
c.216+2T>C (n.216+2T>C)
c.126+2T>C (n.126+2T>C)
11g.8089663T>GCA5870939TUBc.90+2T>G (n.90+2T>G)
c.255+2T>G (n.255+2T>G)
c.108+2T>G (n.108+2T>G)
c.216+2T>G (n.216+2T>G)
c.126+2T>G (n.126+2T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089663T=CA1950952781TUBc.90+2T= (n.90+2T=)
c.255+2T= (n.255+2T=)
c.108+2T= (n.108+2T=)
c.216+2T= (n.216+2T=)
c.126+2T= (n.126+2T=)
11g.8089664G>ACA2573147216TUBc.90+3G>A (n.90+3G>A)
c.255+3G>A (n.255+3G>A)
c.108+3G>A (n.108+3G>A)
c.216+3G>A (n.216+3G>A)
c.126+3G>A (n.126+3G>A)
 ClinVar dbSNP gnomAD v4
11g.8089664G=CA1950952785TUBc.90+3G= (n.90+3G=)
c.255+3G= (n.255+3G=)
c.108+3G= (n.108+3G=)
c.216+3G= (n.216+3G=)
c.126+3G= (n.126+3G=)
11g.8089664G>TCA1950952786TUBc.90+3G>T (n.90+3G>T)
c.255+3G>T (n.255+3G>T)
c.108+3G>T (n.108+3G>T)
c.216+3G>T (n.216+3G>T)
c.126+3G>T (n.126+3G>T)
 dbSNP
11g.8089665A=CA1950952790TUBc.90+4A= (n.90+4A=)
c.255+4A= (n.255+4A=)
c.108+4A= (n.108+4A=)
c.216+4A= (n.216+4A=)
c.126+4A= (n.126+4A=)
11g.8089665A>CCA597322472TUBc.90+4A>C (n.90+4A>C)
c.255+4A>C (n.255+4A>C)
c.108+4A>C (n.108+4A>C)
c.216+4A>C (n.216+4A>C)
c.126+4A>C (n.126+4A>C)
 dbSNP gnomAD v2 gnomAD v4
11g.8089665A>GCA5870940TUBc.90+4A>G (n.90+4A>G)
c.255+4A>G (n.255+4A>G)
c.108+4A>G (n.108+4A>G)
c.216+4A>G (n.216+4A>G)
c.126+4A>G (n.126+4A>G)
 dbSNP ExAC gnomAD v2
11g.8089666G=CA1950952792TUBc.90+5G= (n.90+5G=)
c.255+5G= (n.255+5G=)
c.108+5G= (n.108+5G=)
c.216+5G= (n.216+5G=)
c.126+5G= (n.126+5G=)
11g.8089667T>CCA2612330361TUBc.90+6T>C (n.90+6T>C)
c.255+6T>C (n.255+6T>C)
c.108+6T>C (n.108+6T>C)
c.216+6T>C (n.216+6T>C)
c.126+6T>C (n.126+6T>C)
 gnomAD v4
11g.8089667T>GCA2574745770TUBc.90+6T>G (n.90+6T>G)
c.255+6T>G (n.255+6T>G)
c.108+6T>G (n.108+6T>G)
c.216+6T>G (n.216+6T>G)
c.126+6T>G (n.126+6T>G)
11g.8089668_8089669insCTACA597322474TUBc.90+7_90+8insCTA (n.90+7_90+8insCTA)
c.255+7_255+8insCTA (n.255+7_255+8insCTA)
c.108+7_108+8insCTA (n.108+7_108+8insCTA)
c.216+7_216+8insCTA (n.216+7_216+8insCTA)
c.126+7_126+8insCTA (n.126+7_126+8insCTA)
 dbSNP gnomAD v2 gnomAD v4
11g.8089669G>ACA2570712562TUBc.90+8G>A (n.90+8G>A)
c.255+8G>A (n.255+8G>A)
c.108+8G>A (n.108+8G>A)
c.216+8G>A (n.216+8G>A)
c.126+8G>A (n.126+8G>A)
11g.8089671C=CA1950952797TUBc.90+10C= (n.90+10C=)
c.255+10C= (n.255+10C=)
c.108+10C= (n.108+10C=)
c.216+10C= (n.216+10C=)
c.126+10C= (n.126+10C=)
11g.8089671C>TCA5870941TUBc.90+10C>T (n.90+10C>T)
c.255+10C>T (n.255+10C>T)
c.108+10C>T (n.108+10C>T)
c.216+10C>T (n.216+10C>T)
c.126+10C>T (n.126+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089672C>ACA2574745771TUBc.90+11C>A (n.90+11C>A)
c.255+11C>A (n.255+11C>A)
c.108+11C>A (n.108+11C>A)
c.216+11C>A (n.216+11C>A)
c.126+11C>A (n.126+11C>A)
11g.8089673T>CCA2790351730TUBc.90+12T>C (n.90+12T>C)
c.255+12T>C (n.255+12T>C)
c.108+12T>C (n.108+12T>C)
c.216+12T>C (n.216+12T>C)
c.126+12T>C (n.126+12T>C)
11g.8089674G>ACA2612330362TUBc.90+13G>A (n.90+13G>A)
c.255+13G>A (n.255+13G>A)
c.108+13G>A (n.108+13G>A)
c.216+13G>A (n.216+13G>A)
c.126+13G>A (n.126+13G>A)
 gnomAD v4
11g.8089675G=CA1950952799TUBc.90+14G= (n.90+14G=)
c.255+14G= (n.255+14G=)
c.108+14G= (n.108+14G=)
c.216+14G= (n.216+14G=)
c.126+14G= (n.126+14G=)
11g.8089675G>TCA1950952800TUBc.90+14G>T (n.90+14G>T)
c.255+14G>T (n.255+14G>T)
c.108+14G>T (n.108+14G>T)
c.216+14G>T (n.216+14G>T)
c.126+14G>T (n.126+14G>T)
 ClinVar dbSNP gnomAD v4
11g.8089676G>TCA2612330363TUBc.90+15G>T (n.90+15G>T)
c.255+15G>T (n.255+15G>T)
c.108+15G>T (n.108+15G>T)
c.216+15G>T (n.216+15G>T)
c.126+15G>T (n.126+15G>T)
 gnomAD v4
11g.8089679C>ACA597322480TUBc.90+18C>A (n.90+18C>A)
c.255+18C>A (n.255+18C>A)
c.108+18C>A (n.108+18C>A)
c.216+18C>A (n.216+18C>A)
c.126+18C>A (n.126+18C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8089679C=CA1950952802TUBc.90+18C= (n.90+18C=)
c.255+18C= (n.255+18C=)
c.108+18C= (n.108+18C=)
c.216+18C= (n.216+18C=)
c.126+18C= (n.126+18C=)
11g.8089679C>TCA5870942TUBc.90+18C>T (n.90+18C>T)
c.255+18C>T (n.255+18C>T)
c.108+18C>T (n.108+18C>T)
c.216+18C>T (n.216+18C>T)
c.126+18C>T (n.126+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089680G>ACA5870943TUBc.90+19G>A (n.90+19G>A)
c.255+19G>A (n.255+19G>A)
c.108+19G>A (n.108+19G>A)
c.216+19G>A (n.216+19G>A)
c.126+19G>A (n.126+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8089680G>CCA5870944TUBc.90+19G>C (n.90+19G>C)
c.255+19G>C (n.255+19G>C)
c.108+19G>C (n.108+19G>C)
c.216+19G>C (n.216+19G>C)
c.126+19G>C (n.126+19G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089680G=CA1950952805TUBc.90+19G= (n.90+19G=)
c.255+19G= (n.255+19G=)
c.108+19G= (n.108+19G=)
c.216+19G= (n.216+19G=)
c.126+19G= (n.126+19G=)
11g.8089682dupCA912973177TUBc.90+21dup (n.90+21dup)
c.255+21dup (n.255+21dup)
c.108+21dup (n.108+21dup)
c.216+21dup (n.216+21dup)
c.126+21dup (n.126+21dup)
 gnomAD v4
11g.8089682G>CCA2574745772TUBc.90+21G>C (n.90+21G>C)
c.255+21G>C (n.255+21G>C)
c.108+21G>C (n.108+21G>C)
c.216+21G>C (n.216+21G>C)
c.126+21G>C (n.126+21G>C)
11g.8089683T>ACA934888065TUBc.90+22T>A (n.90+22T>A)
c.255+22T>A (n.255+22T>A)
c.108+22T>A (n.108+22T>A)
c.216+22T>A (n.216+22T>A)
c.126+22T>A (n.126+22T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.8089683T>CCA2574745773TUBc.90+22T>C (n.90+22T>C)
c.255+22T>C (n.255+22T>C)
c.108+22T>C (n.108+22T>C)
c.216+22T>C (n.216+22T>C)
c.126+22T>C (n.126+22T>C)
11g.8089683T>GCA217415149TUBc.90+22T>G (n.90+22T>G)
c.255+22T>G (n.255+22T>G)
c.108+22T>G (n.108+22T>G)
c.216+22T>G (n.216+22T>G)
c.126+22T>G (n.126+22T>G)
 dbSNP gnomAD v4
11g.8089683T=CA1950952809TUBc.90+22T= (n.90+22T=)
c.255+22T= (n.255+22T=)
c.108+22T= (n.108+22T=)
c.216+22T= (n.216+22T=)
c.126+22T= (n.126+22T=)
11g.8089685G>ACA217415154TUBc.90+24G>A (n.90+24G>A)
c.255+24G>A (n.255+24G>A)
c.108+24G>A (n.108+24G>A)
c.216+24G>A (n.216+24G>A)
c.126+24G>A (n.126+24G>A)
 dbSNP
11g.8089685G=CA1950952812TUBc.90+24G= (n.90+24G=)
c.255+24G= (n.255+24G=)
c.108+24G= (n.108+24G=)
c.216+24G= (n.216+24G=)
c.126+24G= (n.126+24G=)
11g.8089688G>ACA1950952815TUBc.90+27G>A (n.90+27G>A)
c.255+27G>A (n.255+27G>A)
c.108+27G>A (n.108+27G>A)
c.216+27G>A (n.216+27G>A)
c.126+27G>A (n.126+27G>A)
 dbSNP
11g.8089688G=CA1950952814TUBc.90+27G= (n.90+27G=)
c.255+27G= (n.255+27G=)
c.108+27G= (n.108+27G=)
c.216+27G= (n.216+27G=)
c.126+27G= (n.126+27G=)
11g.8089688G>TCA2612330364TUBc.90+27G>T (n.90+27G>T)
c.255+27G>T (n.255+27G>T)
c.108+27G>T (n.108+27G>T)
c.216+27G>T (n.216+27G>T)
c.126+27G>T (n.126+27G>T)
 gnomAD v4
11g.8089690G>ACA217415162TUBc.90+29G>A (n.90+29G>A)
c.255+29G>A (n.255+29G>A)
c.108+29G>A (n.108+29G>A)
c.216+29G>A (n.216+29G>A)
c.126+29G>A (n.126+29G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.8089690G=CA1950952818TUBc.90+29G= (n.90+29G=)
c.255+29G= (n.255+29G=)
c.108+29G= (n.108+29G=)
c.216+29G= (n.216+29G=)
c.126+29G= (n.126+29G=)
11g.8089690G>TCA5870945TUBc.90+29G>T (n.90+29G>T)
c.255+29G>T (n.255+29G>T)
c.108+29G>T (n.108+29G>T)
c.216+29G>T (n.216+29G>T)
c.126+29G>T (n.126+29G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089693G>ACA5870946TUBc.90+32G>A (n.90+32G>A)
c.255+32G>A (n.255+32G>A)
c.108+32G>A (n.108+32G>A)
c.216+32G>A (n.216+32G>A)
c.126+32G>A (n.126+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089693G=CA1950952823TUBc.90+32G= (n.90+32G=)
c.255+32G= (n.255+32G=)
c.108+32G= (n.108+32G=)
c.216+32G= (n.216+32G=)
c.126+32G= (n.126+32G=)
11g.8089694A>GCA2612330365TUBc.90+33A>G (n.90+33A>G)
c.255+33A>G (n.255+33A>G)
c.108+33A>G (n.108+33A>G)
c.216+33A>G (n.216+33A>G)
c.126+33A>G (n.126+33A>G)
 gnomAD v4
11g.8089695G>CCA2612330366TUBc.90+34G>C (n.90+34G>C)
c.255+34G>C (n.255+34G>C)
c.108+34G>C (n.108+34G>C)
c.216+34G>C (n.216+34G>C)
c.126+34G>C (n.126+34G>C)
 gnomAD v4
11g.8089695G=CA1950952826TUBc.90+34G= (n.90+34G=)
c.255+34G= (n.255+34G=)
c.108+34G= (n.108+34G=)
c.216+34G= (n.216+34G=)
c.126+34G= (n.126+34G=)
11g.8089695G>TCA217415182TUBc.90+34G>T (n.90+34G>T)
c.255+34G>T (n.255+34G>T)
c.108+34G>T (n.108+34G>T)
c.216+34G>T (n.216+34G>T)
c.126+34G>T (n.126+34G>T)
 dbSNP
11g.8089696T>ACA934888071TUBc.90+35T>A (n.90+35T>A)
c.255+35T>A (n.255+35T>A)
c.108+35T>A (n.108+35T>A)
c.216+35T>A (n.216+35T>A)
c.126+35T>A (n.126+35T>A)
 dbSNP gnomAD v3 gnomAD v4
11g.8089696T>GCA2612330367TUBc.90+35T>G (n.90+35T>G)
c.255+35T>G (n.255+35T>G)
c.108+35T>G (n.108+35T>G)
c.216+35T>G (n.216+35T>G)
c.126+35T>G (n.126+35T>G)
 gnomAD v4
11g.8089696T=CA1950952829TUBc.90+35T= (n.90+35T=)
c.255+35T= (n.255+35T=)
c.108+35T= (n.108+35T=)
c.216+35T= (n.216+35T=)
c.126+35T= (n.126+35T=)
11g.8089698T>GCA2574745774TUBc.90+37T>G (n.90+37T>G)
c.255+37T>G (n.255+37T>G)
c.108+37T>G (n.108+37T>G)
c.216+37T>G (n.216+37T>G)
c.126+37T>G (n.126+37T>G)
11g.8089698_8089699delinsTGCA1950952831TUBc.90+37_90+38delinsTG (n.90+37_90+38delinsTG)
c.255+37_255+38delinsTG (n.255+37_255+38delinsTG)
c.108+37_108+38delinsTG (n.108+37_108+38delinsTG)
c.216+37_216+38delinsTG (n.216+37_216+38delinsTG)
c.126+37_126+38delinsTG (n.126+37_126+38delinsTG)
11g.8089699G>ACA2526561358TUBc.90+38G>A (n.90+38G>A)
c.255+38G>A (n.255+38G>A)
c.108+38G>A (n.108+38G>A)
c.216+38G>A (n.216+38G>A)
c.126+38G>A (n.126+38G>A)
11g.8089701delCA680746996TUBc.90+40del (n.90+40del)
c.255+40del (n.255+40del)
c.108+40del (n.108+40del)
c.216+40del (n.216+40del)
c.126+40del (n.126+40del)
 dbSNP
11g.8089701G>ACA473009027TUBc.90+40G>A (n.90+40G>A)
c.255+40G>A (n.255+40G>A)
c.108+40G>A (n.108+40G>A)
c.216+40G>A (n.216+40G>A)
c.126+40G>A (n.126+40G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.8089701G>CCA680747010TUBc.90+40G>C (n.90+40G>C)
c.255+40G>C (n.255+40G>C)
c.108+40G>C (n.108+40G>C)
c.216+40G>C (n.216+40G>C)
c.126+40G>C (n.126+40G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.8089701G=CA1950952836TUBc.90+40G= (n.90+40G=)
c.255+40G= (n.255+40G=)
c.108+40G= (n.108+40G=)
c.216+40G= (n.216+40G=)
c.126+40G= (n.126+40G=)
11g.8089702C=CA1950952840TUBc.90+41C= (n.90+41C=)
c.255+41C= (n.255+41C=)
c.108+41C= (n.108+41C=)
c.216+41C= (n.216+41C=)
c.126+41C= (n.126+41C=)
11g.8089702C>TCA5870947TUBc.90+41C>T (n.90+41C>T)
c.255+41C>T (n.255+41C>T)
c.108+41C>T (n.108+41C>T)
c.216+41C>T (n.216+41C>T)
c.126+41C>T (n.126+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8089704G>TCA2612330369TUBc.90+43G>T (n.90+43G>T)
c.255+43G>T (n.255+43G>T)
c.108+43G>T (n.108+43G>T)
c.216+43G>T (n.216+43G>T)
c.126+43G>T (n.126+43G>T)
 gnomAD v4
11g.8089707_8089730dupCA2612330368TUBc.90+46_90+69dup (n.90+46_90+69dup)
c.255+46_255+69dup (n.255+46_255+69dup)
c.108+46_108+69dup (n.108+46_108+69dup)
c.216+46_216+69dup (n.216+46_216+69dup)
c.126+46_126+69dup (n.126+46_126+69dup)
 gnomAD v4
11g.8089707A=CA1950952842TUBc.90+46A= (n.90+46A=)
c.255+46A= (n.255+46A=)
c.108+46A= (n.108+46A=)
c.216+46A= (n.216+46A=)
c.126+46A= (n.126+46A=)
11g.8089707A>GCA217415195TUBc.90+46A>G (n.90+46A>G)
c.255+46A>G (n.255+46A>G)
c.108+46A>G (n.108+46A>G)
c.216+46A>G (n.216+46A>G)
c.126+46A>G (n.126+46A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8089707A>TCA2612330370TUBc.90+46A>T (n.90+46A>T)
c.255+46A>T (n.255+46A>T)
c.108+46A>T (n.108+46A>T)
c.216+46A>T (n.216+46A>T)
c.126+46A>T (n.126+46A>T)
 gnomAD v4
11g.8089708T>CCA1950952847TUBc.90+47T>C (n.90+47T>C)
c.255+47T>C (n.255+47T>C)
c.108+47T>C (n.108+47T>C)
c.216+47T>C (n.216+47T>C)
c.126+47T>C (n.126+47T>C)
 dbSNP gnomAD v4
11g.8089708T=CA1950952845TUBc.90+47T= (n.90+47T=)
c.255+47T= (n.255+47T=)
c.108+47T= (n.108+47T=)
c.216+47T= (n.216+47T=)
c.126+47T= (n.126+47T=)

Number of alleles fetched