Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.8089602C>A | CA5870926 | TUB | c.39-8C>A (n.39-8C>A) c.204-8C>A (n.204-8C>A) c.57-8C>A (n.57-8C>A) c.165-8C>A (n.165-8C>A) c.75-8C>A (n.75-8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8089602C= | CA1950952703 | TUB | c.39-8C= (n.39-8C=) c.204-8C= (n.204-8C=) c.57-8C= (n.57-8C=) c.165-8C= (n.165-8C=) c.75-8C= (n.75-8C=) | |
11 | g.8089603T>C | CA1950952707 | TUB | c.39-7T>C (n.39-7T>C) c.204-7T>C (n.204-7T>C) c.57-7T>C (n.57-7T>C) c.165-7T>C (n.165-7T>C) c.75-7T>C (n.75-7T>C) | dbSNP |
11 | g.8089603T= | CA1950952706 | TUB | c.39-7T= (n.39-7T=) c.204-7T= (n.204-7T=) c.57-7T= (n.57-7T=) c.165-7T= (n.165-7T=) c.75-7T= (n.75-7T=) | |
11 | g.8089605T>A | CA2612330359 | TUB | c.39-5T>A (n.39-5T>A) c.204-5T>A (n.204-5T>A) c.57-5T>A (n.57-5T>A) c.165-5T>A (n.165-5T>A) c.75-5T>A (n.75-5T>A) | gnomAD v4 |
11 | g.8089606G= | CA1950952708 | TUB | c.39-4G= (n.39-4G=) c.204-4G= (n.204-4G=) c.57-4G= (n.57-4G=) c.165-4G= (n.165-4G=) c.75-4G= (n.75-4G=) | |
11 | g.8089606G>T | CA5870927 | TUB | c.39-4G>T (n.39-4G>T) c.204-4G>T (n.204-4G>T) c.57-4G>T (n.57-4G>T) c.165-4G>T (n.165-4G>T) c.75-4G>T (n.75-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8089607C= | CA1950952710 | TUB | c.39-3C= (n.39-3C=) c.204-3C= (n.204-3C=) c.57-3C= (n.57-3C=) c.165-3C= (n.165-3C=) c.75-3C= (n.75-3C=) | |
11 | g.8089607C>T | CA5870928 | TUB | c.39-3C>T (n.39-3C>T) c.204-3C>T (n.204-3C>T) c.57-3C>T (n.57-3C>T) c.165-3C>T (n.165-3C>T) c.75-3C>T (n.75-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8089608A>C | CA379562227 | TUB | c.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) | |
11 | g.8089608A>G | CA379562228 | TUB | c.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) | |
11 | g.8089608A>T | CA379562229 | TUB | c.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) | |
11 | g.8089609G>A | CA379562230 | TUB | c.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 |
11 | g.8089609G>C | CA379562231 | TUB | c.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 |
11 | g.8089609G= | CA1950952712 | TUB | c.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=) | |
11 | g.8089609G>T | CA379562233 | TUB | c.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 |
11 | g.8089610T>A | CA379562235 | TUB | c.39T>A (p.Ser13Arg) c.204T>A (p.Arg68=) c.57T>A (p.Ser19Arg) c.165T>A (p.Ser55Arg) c.75T>A (p.Ser25Arg) | |
11 | g.8089610T>C | CA473008999 | TUB | c.39T>C (p.Ser13=) c.204T>C (p.Arg68=) c.57T>C (p.Ser19=) c.165T>C (p.Ser55=) c.75T>C (p.Ser25=) | |
11 | g.8089610T>G | CA379562237 | TUB | c.39T>G (p.Ser13Arg) c.204T>G (p.Arg68=) c.57T>G (p.Ser19Arg) c.165T>G (p.Ser55Arg) c.75T>G (p.Ser25Arg) | |
11 | g.8089611G>A | CA379562244 | TUB | c.40G>A (p.Val14Ile) c.205G>A (p.Val69Ile) c.58G>A (p.Val20Ile) c.166G>A (p.Val56Ile) c.76G>A (p.Val26Ile) | |
11 | g.8089611G>C | CA379562242 | TUB | c.40G>C (p.Val14Leu) c.205G>C (p.Val69Leu) c.58G>C (p.Val20Leu) c.166G>C (p.Val56Leu) c.76G>C (p.Val26Leu) | |
11 | g.8089611G>T | CA379562239 | TUB | c.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 |
11 | g.8089612T>A | CA379562249 | TUB | c.41T>A (p.Val14Asp) c.206T>A (p.Val69Asp) c.59T>A (p.Val20Asp) c.167T>A (p.Val56Asp) c.77T>A (p.Val26Asp) | |
11 | g.8089612T>C | CA379562250 | TUB | c.41T>C (p.Val14Ala) c.206T>C (p.Val69Ala) c.59T>C (p.Val20Ala) c.167T>C (p.Val56Ala) c.77T>C (p.Val26Ala) | |
11 | g.8089612T>G | CA379562251 | TUB | c.41T>G (p.Val14Gly) c.206T>G (p.Val69Gly) c.59T>G (p.Val20Gly) c.167T>G (p.Val56Gly) c.77T>G (p.Val26Gly) | |
11 | g.8089613C>A | CA473009000 | TUB | c.42C>A (p.Val14=) c.207C>A (p.Val69=) c.60C>A (p.Val20=) c.168C>A (p.Val56=) c.78C>A (p.Val26=) | |
11 | g.8089613C>G | CA473009001 | TUB | c.42C>G (p.Val14=) c.207C>G (p.Val69=) c.60C>G (p.Val20=) c.168C>G (p.Val56=) c.78C>G (p.Val26=) | |
11 | g.8089613C>T | CA473009002 | TUB | c.42C>T (p.Val14=) c.207C>T (p.Val69=) c.60C>T (p.Val20=) c.168C>T (p.Val56=) c.78C>T (p.Val26=) | |
11 | g.8089614T>A | CA379562253 | TUB | c.43T>A (p.Leu15Ile) c.208T>A (p.Leu70Ile) c.61T>A (p.Leu21Ile) c.169T>A (p.Leu57Ile) c.79T>A (p.Leu27Ile) | |
11 | g.8089614T>C | CA473009003 | TUB | c.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 |
11 | g.8089614T>G | CA379562254 | TUB | c.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 |
11 | g.8089614T= | CA1950952714 | TUB | c.43T= (p.Leu15=) c.208T= (p.Leu70=) c.61T= (p.Leu21=) c.169T= (p.Leu57=) c.79T= (p.Leu27=) | |
11 | g.8089615T>A | CA379562257 | TUB | c.44T>A (p.Leu15Ter) c.209T>A (p.Leu70Ter) c.62T>A (p.Leu21Ter) c.170T>A (p.Leu57Ter) c.80T>A (p.Leu27Ter) | |
11 | g.8089615T>C | CA379562256 | TUB | c.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 |
11 | g.8089615T>G | CA379562255 | TUB | c.44T>G (p.Leu15Ter) c.209T>G (p.Leu70Ter) c.62T>G (p.Leu21Ter) c.170T>G (p.Leu57Ter) c.80T>G (p.Leu27Ter) | |
11 | g.8089616A= | CA1950952717 | TUB | c.45A= (p.Leu15=) c.210A= (p.Leu70=) c.63A= (p.Leu21=) c.171A= (p.Leu57=) c.81A= (p.Leu27=) | |
11 | g.8089616A>C | CA5870929 | TUB | c.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 |
11 | g.8089616A>G | CA5870930 | TUB | c.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 |
11 | g.8089616A>T | CA379562258 | TUB | c.45A>T (p.Leu15Phe) c.210A>T (p.Leu70Phe) c.63A>T (p.Leu21Phe) c.171A>T (p.Leu57Phe) c.81A>T (p.Leu27Phe) | |
11 | g.8089617G>A | CA379562259 | TUB | c.46G>A (p.Asp16Asn) c.211G>A (p.Asp71Asn) c.64G>A (p.Asp22Asn) c.172G>A (p.Asp58Asn) c.82G>A (p.Asp28Asn) | |
11 | g.8089617G>C | CA379562261 | TUB | c.46G>C (p.Asp16His) c.211G>C (p.Asp71His) c.64G>C (p.Asp22His) c.172G>C (p.Asp58His) c.82G>C (p.Asp28His) | |
11 | g.8089617G>T | CA379562263 | TUB | c.46G>T (p.Asp16Tyr) c.211G>T (p.Asp71Tyr) c.64G>T (p.Asp22Tyr) c.172G>T (p.Asp58Tyr) c.82G>T (p.Asp28Tyr) | |
11 | g.8089622_8089624del | CA2612330360 | TUB | c.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 |
11 | g.8089618A= | CA1950952722 | TUB | c.47A= (p.Asp16=) c.212A= (p.Asp71=) c.65A= (p.Asp22=) c.173A= (p.Asp58=) c.83A= (p.Asp28=) | |
11 | g.8089618A>C | CA379562270 | TUB | c.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 |
11 | g.8089618A>G | CA379562266 | TUB | c.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 |
11 | g.8089618A>T | CA379562268 | TUB | c.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 |
11 | g.8089619T>A | CA379562271 | TUB | c.48T>A (p.Asp16Glu) c.213T>A (p.Asp71Glu) c.66T>A (p.Asp22Glu) c.174T>A (p.Asp58Glu) c.84T>A (p.Asp28Glu) | |
11 | g.8089619T>C | CA473009004 | TUB | c.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 |
11 | g.8089619T>G | CA379562273 | TUB | c.48T>G (p.Asp16Glu) c.213T>G (p.Asp71Glu) c.66T>G (p.Asp22Glu) c.174T>G (p.Asp58Glu) c.84T>G (p.Asp28Glu) | |
11 | g.8089620G>A | CA379562275 | TUB | c.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 |
11 | g.8089620G>C | CA5870931 | TUB | c.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 |
11 | g.8089620G= | CA1950952725 | TUB | c.49G= (p.Asp17=) c.214G= (p.Asp72=) c.67G= (p.Asp23=) c.175G= (p.Asp59=) c.85G= (p.Asp29=) | |
11 | g.8089620G>T | CA379562276 | TUB | c.49G>T (p.Asp17Tyr) c.214G>T (p.Asp72Tyr) c.67G>T (p.Asp23Tyr) c.175G>T (p.Asp59Tyr) c.85G>T (p.Asp29Tyr) | |
11 | g.8089621A>C | CA379562277 | TUB | c.50A>C (p.Asp17Ala) c.215A>C (p.Asp72Ala) c.68A>C (p.Asp23Ala) c.176A>C (p.Asp59Ala) c.86A>C (p.Asp29Ala) | |
11 | g.8089621A>G | CA379562278 | TUB | c.50A>G (p.Asp17Gly) c.215A>G (p.Asp72Gly) c.68A>G (p.Asp23Gly) c.176A>G (p.Asp59Gly) c.86A>G (p.Asp29Gly) | |
11 | g.8089621A>T | CA379562279 | TUB | c.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 |
11 | g.8089622T>A | CA379562285 | TUB | c.51T>A (p.Asp17Glu) c.216T>A (p.Asp72Glu) c.69T>A (p.Asp23Glu) c.177T>A (p.Asp59Glu) c.87T>A (p.Asp29Glu) | |
11 | g.8089622T>C | CA473009005 | TUB | c.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 |
11 | g.8089622T>G | CA379562286 | TUB | c.51T>G (p.Asp17Glu) c.216T>G (p.Asp72Glu) c.69T>G (p.Asp23Glu) c.177T>G (p.Asp59Glu) c.87T>G (p.Asp29Glu) | |
11 | g.8089622T= | CA1950952728 | TUB | c.51T= (p.Asp17=) c.216T= (p.Asp72=) c.69T= (p.Asp23=) c.177T= (p.Asp59=) c.87T= (p.Asp29=) | |
11 | g.8089623G>A | CA379562287 | TUB | c.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 |
11 | g.8089623G>C | CA5870932 | TUB | c.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 |
11 | g.8089623G= | CA1950952731 | TUB | c.52G= (p.Glu18=) c.217G= (p.Glu73=) c.70G= (p.Glu24=) c.178G= (p.Glu60=) c.88G= (p.Glu30=) | |
11 | g.8089623G>T | CA379562289 | TUB | c.52G>T (p.Glu18Ter) c.217G>T (p.Glu73Ter) c.70G>T (p.Glu24Ter) c.178G>T (p.Glu60Ter) c.88G>T (p.Glu30Ter) | |
11 | g.8089624A>C | CA379562292 | TUB | c.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 |
11 | g.8089624A>G | CA379562295 | TUB | c.53A>G (p.Glu18Gly) c.218A>G (p.Glu73Gly) c.71A>G (p.Glu24Gly) c.179A>G (p.Glu60Gly) c.89A>G (p.Glu30Gly) | |
11 | g.8089624A>T | CA379562294 | TUB | c.53A>T (p.Glu18Val) c.218A>T (p.Glu73Val) c.71A>T (p.Glu24Val) c.179A>T (p.Glu60Val) c.89A>T (p.Glu30Val) | |
11 | g.8089625G>A | CA473009006 | TUB | c.54G>A (p.Glu18=) c.219G>A (p.Glu73=) c.72G>A (p.Glu24=) c.180G>A (p.Glu60=) c.90G>A (p.Glu30=) | |
11 | g.8089625G>C | CA379562298 | TUB | c.54G>C (p.Glu18Asp) c.219G>C (p.Glu73Asp) c.72G>C (p.Glu24Asp) c.180G>C (p.Glu60Asp) c.90G>C (p.Glu30Asp) | |
11 | g.8089625G>T | CA379562300 | TUB | c.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 |
11 | g.8089626G>A | CA379562303 | TUB | c.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 |
11 | g.8089626G>C | CA379562304 | TUB | c.55G>C (p.Gly19Arg) c.220G>C (p.Gly74Arg) c.73G>C (p.Gly25Arg) c.181G>C (p.Gly61Arg) c.91G>C (p.Gly31Arg) | |
11 | g.8089626G= | CA1950952740 | TUB | c.55G= (p.Gly19=) c.220G= (p.Gly74=) c.73G= (p.Gly25=) c.181G= (p.Gly61=) c.91G= (p.Gly31=) | |
11 | g.8089626G>T | CA379562306 | TUB | c.55G>T (p.Gly19Cys) c.220G>T (p.Gly74Cys) c.73G>T (p.Gly25Cys) c.181G>T (p.Gly61Cys) c.91G>T (p.Gly31Cys) | |
11 | g.8089627G>A | CA379562308 | TUB | c.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 |
11 | g.8089627G>C | CA379562315 | TUB | c.56G>C (p.Gly19Ala) c.221G>C (p.Gly74Ala) c.74G>C (p.Gly25Ala) c.182G>C (p.Gly61Ala) c.92G>C (p.Gly31Ala) | |
11 | g.8089627G>T | CA379562317 | TUB | c.56G>T (p.Gly19Val) c.221G>T (p.Gly74Val) c.74G>T (p.Gly25Val) c.182G>T (p.Gly61Val) c.92G>T (p.Gly31Val) | |
11 | g.8089628C>A | CA473009007 | TUB | c.57C>A (p.Gly19=) c.222C>A (p.Gly74=) c.75C>A (p.Gly25=) c.183C>A (p.Gly61=) c.93C>A (p.Gly31=) | |
11 | g.8089628C= | CA1950952744 | TUB | c.57C= (p.Gly19=) c.222C= (p.Gly74=) c.75C= (p.Gly25=) c.183C= (p.Gly61=) c.93C= (p.Gly31=) | |
11 | g.8089628C>G | CA473009008 | TUB | c.57C>G (p.Gly19=) c.222C>G (p.Gly74=) c.75C>G (p.Gly25=) c.183C>G (p.Gly61=) c.93C>G (p.Gly31=) | |
11 | g.8089628C>T | CA5870933 | TUB | c.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 |
11 | g.8089629A>C | CA473009009 | TUB | c.58A>C (p.Arg20=) c.223A>C (p.Arg75=) c.76A>C (p.Arg26=) c.184A>C (p.Arg62=) c.94A>C (p.Arg32=) | |
11 | g.8089629A>G | CA379562318 | TUB | c.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 |
11 | g.8089629A>T | CA379562320 | TUB | c.58A>T (p.Arg20Ter) c.223A>T (p.Arg75Ter) c.76A>T (p.Arg26Ter) c.184A>T (p.Arg62Ter) c.94A>T (p.Arg32Ter) | |
11 | g.8089630G>A | CA379562326 | TUB | c.59G>A (p.Arg20Lys) c.224G>A (p.Arg75Lys) c.77G>A (p.Arg26Lys) c.185G>A (p.Arg62Lys) c.95G>A (p.Arg32Lys) | |
11 | g.8089630G>C | CA379562324 | TUB | c.59G>C (p.Arg20Thr) c.224G>C (p.Arg75Thr) c.77G>C (p.Arg26Thr) c.185G>C (p.Arg62Thr) c.95G>C (p.Arg32Thr) | |
11 | g.8089630G>T | CA379562321 | TUB | c.59G>T (p.Arg20Ile) c.224G>T (p.Arg75Ile) c.77G>T (p.Arg26Ile) c.185G>T (p.Arg62Ile) c.95G>T (p.Arg32Ile) | |
11 | g.8089631A= | CA1950952748 | TUB | c.60A= (p.Arg20=) c.225A= (p.Arg75=) c.78A= (p.Arg26=) c.186A= (p.Arg62=) c.96A= (p.Arg32=) | |
11 | g.8089631A>C | CA379562329 | TUB | c.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 |
11 | g.8089631A>G | CA473009010 | TUB | c.60A>G (p.Arg20=) c.225A>G (p.Arg75=) c.78A>G (p.Arg26=) c.186A>G (p.Arg62=) c.96A>G (p.Arg32=) | |
11 | g.8089631A>T | CA379562333 | TUB | c.60A>T (p.Arg20Ser) c.225A>T (p.Arg75Ser) c.78A>T (p.Arg26Ser) c.186A>T (p.Arg62Ser) c.96A>T (p.Arg32Ser) | |
11 | g.8089632A>C | CA379562335 | TUB | c.61A>C (p.Asn21His) c.226A>C (p.Asn76His) c.79A>C (p.Asn27His) c.187A>C (p.Asn63His) c.97A>C (p.Asn33His) | |
11 | g.8089632A>G | CA379562337 | TUB | c.61A>G (p.Asn21Asp) c.226A>G (p.Asn76Asp) c.79A>G (p.Asn27Asp) c.187A>G (p.Asn63Asp) c.97A>G (p.Asn33Asp) | |
11 | g.8089632A>T | CA379562338 | TUB | c.61A>T (p.Asn21Tyr) c.226A>T (p.Asn76Tyr) c.79A>T (p.Asn27Tyr) c.187A>T (p.Asn63Tyr) c.97A>T (p.Asn33Tyr) | |
11 | g.8089633A>C | CA379562340 | TUB | c.62A>C (p.Asn21Thr) c.227A>C (p.Asn76Thr) c.80A>C (p.Asn27Thr) c.188A>C (p.Asn63Thr) c.98A>C (p.Asn33Thr) | |
11 | g.8089633A>G | CA379562341 | TUB | c.62A>G (p.Asn21Ser) c.227A>G (p.Asn76Ser) c.80A>G (p.Asn27Ser) c.188A>G (p.Asn63Ser) c.98A>G (p.Asn33Ser) | |
11 | g.8089633A>T | CA379562342 | TUB | c.62A>T (p.Asn21Ile) c.227A>T (p.Asn76Ile) c.80A>T (p.Asn27Ile) c.188A>T (p.Asn63Ile) c.98A>T (p.Asn33Ile) | |
11 | g.8089634C>A | CA379562345 | TUB | c.63C>A (p.Asn21Lys) c.228C>A (p.Asn76Lys) c.81C>A (p.Asn27Lys) c.189C>A (p.Asn63Lys) c.99C>A (p.Asn33Lys) | |
11 | g.8089634C>G | CA379562347 | TUB | c.63C>G (p.Asn21Lys) c.228C>G (p.Asn76Lys) c.81C>G (p.Asn27Lys) c.189C>G (p.Asn63Lys) c.99C>G (p.Asn33Lys) | |
11 | g.8089634C>T | CA473009011 | TUB | c.63C>T (p.Asn21=) c.228C>T (p.Asn76=) c.81C>T (p.Asn27=) c.189C>T (p.Asn63=) c.99C>T (p.Asn33=) | |
11 | g.8089635C>A | CA379562348 | TUB | c.64C>A (p.Leu22Met) c.229C>A (p.Leu77Met) c.82C>A (p.Leu28Met) c.190C>A (p.Leu64Met) c.100C>A (p.Leu34Met) | |
11 | g.8089635C>G | CA379562350 | TUB | c.64C>G (p.Leu22Val) c.229C>G (p.Leu77Val) c.82C>G (p.Leu28Val) c.190C>G (p.Leu64Val) c.100C>G (p.Leu34Val) | |
11 | g.8089635C>T | CA473009012 | TUB | c.64C>T (p.Leu22=) c.229C>T (p.Leu77=) c.82C>T (p.Leu28=) c.190C>T (p.Leu64=) c.100C>T (p.Leu34=) | |
11 | g.8089636T>A | CA379562354 | TUB | c.65T>A (p.Leu22Gln) c.230T>A (p.Leu77Gln) c.83T>A (p.Leu28Gln) c.191T>A (p.Leu64Gln) c.101T>A (p.Leu34Gln) | |
11 | g.8089636T>C | CA379562353 | TUB | c.65T>C (p.Leu22Pro) c.230T>C (p.Leu77Pro) c.83T>C (p.Leu28Pro) c.191T>C (p.Leu64Pro) c.101T>C (p.Leu34Pro) | |
11 | g.8089636T>G | CA379562352 | TUB | c.65T>G (p.Leu22Arg) c.230T>G (p.Leu77Arg) c.83T>G (p.Leu28Arg) c.191T>G (p.Leu64Arg) c.101T>G (p.Leu34Arg) | |
11 | g.8089637G>A | CA473009013 | TUB | c.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 |
11 | g.8089637G>C | CA473009014 | TUB | c.66G>C (p.Leu22=) c.231G>C (p.Leu77=) c.84G>C (p.Leu28=) c.192G>C (p.Leu64=) c.102G>C (p.Leu34=) | |
11 | g.8089637G>T | CA473009015 | TUB | c.66G>T (p.Leu22=) c.231G>T (p.Leu77=) c.84G>T (p.Leu28=) c.192G>T (p.Leu64=) c.102G>T (p.Leu34=) | |
11 | g.8089638A>C | CA473009016 | TUB | c.67A>C (p.Arg23=) c.232A>C (p.Arg78=) c.85A>C (p.Arg29=) c.193A>C (p.Arg65=) c.103A>C (p.Arg35=) | |
11 | g.8089638A>G | CA379562356 | TUB | c.67A>G (p.Arg23Gly) c.232A>G (p.Arg78Gly) c.85A>G (p.Arg29Gly) c.193A>G (p.Arg65Gly) c.103A>G (p.Arg35Gly) | |
11 | g.8089638A>T | CA379562357 | TUB | c.67A>T (p.Arg23Trp) c.232A>T (p.Arg78Trp) c.85A>T (p.Arg29Trp) c.193A>T (p.Arg65Trp) c.103A>T (p.Arg35Trp) | |
11 | g.8089639G>A | CA379562360 | TUB | c.68G>A (p.Arg23Lys) c.233G>A (p.Arg78Lys) c.86G>A (p.Arg29Lys) c.194G>A (p.Arg65Lys) c.104G>A (p.Arg35Lys) | |
11 | g.8089639G>C | CA379562363 | TUB | c.68G>C (p.Arg23Thr) c.233G>C (p.Arg78Thr) c.86G>C (p.Arg29Thr) c.194G>C (p.Arg65Thr) c.104G>C (p.Arg35Thr) | |
11 | g.8089639G= | CA1950952753 | TUB | c.68G= (p.Arg23=) c.233G= (p.Arg78=) c.86G= (p.Arg29=) c.194G= (p.Arg65=) c.104G= (p.Arg35=) | |
11 | g.8089639G>T | CA217415090 | TUB | c.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 |
11 | g.8089640G>A | CA473009017 | TUB | c.69G>A (p.Arg23=) c.234G>A (p.Arg78=) c.87G>A (p.Arg29=) c.195G>A (p.Arg65=) c.105G>A (p.Arg35=) | |
11 | g.8089640G>C | CA379562367 | TUB | c.69G>C (p.Arg23Ser) c.234G>C (p.Arg78Ser) c.87G>C (p.Arg29Ser) c.195G>C (p.Arg65Ser) c.105G>C (p.Arg35Ser) | |
11 | g.8089640G>T | CA379562369 | TUB | c.69G>T (p.Arg23Ser) c.234G>T (p.Arg78Ser) c.87G>T (p.Arg29Ser) c.195G>T (p.Arg65Ser) c.105G>T (p.Arg35Ser) | |
11 | g.8089641C>A | CA379562371 | TUB | c.70C>A (p.Gln24Lys) c.235C>A (p.Gln79Lys) c.88C>A (p.Gln30Lys) c.196C>A (p.Gln66Lys) c.106C>A (p.Gln36Lys) | |
11 | g.8089641C>G | CA379562375 | TUB | c.70C>G (p.Gln24Glu) c.235C>G (p.Gln79Glu) c.88C>G (p.Gln30Glu) c.196C>G (p.Gln66Glu) c.106C>G (p.Gln36Glu) | |
11 | g.8089641C>T | CA379562373 | TUB | c.70C>T (p.Gln24Ter) c.235C>T (p.Gln79Ter) c.88C>T (p.Gln30Ter) c.196C>T (p.Gln66Ter) c.106C>T (p.Gln36Ter) | |
11 | g.8089642A>C | CA379562376 | TUB | c.71A>C (p.Gln24Pro) c.236A>C (p.Gln79Pro) c.89A>C (p.Gln30Pro) c.197A>C (p.Gln66Pro) c.107A>C (p.Gln36Pro) | |
11 | g.8089642A>G | CA379562378 | TUB | c.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 |
11 | g.8089642A>T | CA379562377 | TUB | c.71A>T (p.Gln24Leu) c.236A>T (p.Gln79Leu) c.89A>T (p.Gln30Leu) c.197A>T (p.Gln66Leu) c.107A>T (p.Gln36Leu) | |
11 | g.8089643G>A | CA5870934 | TUB | c.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 |
11 | g.8089643G>C | CA379562381 | TUB | c.72G>C (p.Gln24His) c.237G>C (p.Gln79His) c.90G>C (p.Gln30His) c.198G>C (p.Gln66His) c.108G>C (p.Gln36His) | |
11 | g.8089643G= | CA1950952757 | TUB | c.72G= (p.Gln24=) c.237G= (p.Gln79=) c.90G= (p.Gln30=) c.198G= (p.Gln66=) c.108G= (p.Gln36=) | |
11 | g.8089643G>T | CA379562380 | TUB | c.72G>T (p.Gln24His) c.237G>T (p.Gln79His) c.90G>T (p.Gln30His) c.198G>T (p.Gln66His) c.108G>T (p.Gln36His) | |
11 | g.8089644C>A | CA379562382 | TUB | c.73C>A (p.Gln25Lys) c.238C>A (p.Gln80Lys) c.91C>A (p.Gln31Lys) c.199C>A (p.Gln67Lys) c.109C>A (p.Gln37Lys) | |
11 | g.8089644C>G | CA379562384 | TUB | c.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 |
11 | g.8089644C>T | CA379562383 | TUB | c.73C>T (p.Gln25Ter) c.238C>T (p.Gln80Ter) c.91C>T (p.Gln31Ter) c.199C>T (p.Gln67Ter) c.109C>T (p.Gln37Ter) | |
11 | g.8089645A>C | CA379562385 | TUB | c.74A>C (p.Gln25Pro) c.239A>C (p.Gln80Pro) c.92A>C (p.Gln31Pro) c.200A>C (p.Gln67Pro) c.110A>C (p.Gln37Pro) | |
11 | g.8089645A>G | CA379562388 | TUB | c.74A>G (p.Gln25Arg) c.239A>G (p.Gln80Arg) c.92A>G (p.Gln31Arg) c.200A>G (p.Gln67Arg) c.110A>G (p.Gln37Arg) | |
11 | g.8089645A>T | CA379562387 | TUB | c.74A>T (p.Gln25Leu) c.239A>T (p.Gln80Leu) c.92A>T (p.Gln31Leu) c.200A>T (p.Gln67Leu) c.110A>T (p.Gln37Leu) | |
11 | g.8089646G>A | CA473009018 | TUB | c.75G>A (p.Gln25=) c.240G>A (p.Gln80=) c.93G>A (p.Gln31=) c.201G>A (p.Gln67=) c.111G>A (p.Gln37=) | |
11 | g.8089646G>C | CA379562390 | TUB | c.75G>C (p.Gln25His) c.240G>C (p.Gln80His) c.93G>C (p.Gln31His) c.201G>C (p.Gln67His) c.111G>C (p.Gln37His) | |
11 | g.8089646G>T | CA379562394 | TUB | c.75G>T (p.Gln25His) c.240G>T (p.Gln80His) c.93G>T (p.Gln31His) c.201G>T (p.Gln67His) c.111G>T (p.Gln37His) | |
11 | g.8089647A= | CA1950952760 | TUB | c.76A= (p.Lys26=) c.241A= (p.Lys81=) c.94A= (p.Lys32=) c.202A= (p.Lys68=) c.112A= (p.Lys38=) | |
11 | g.8089647A>C | CA379562397 | TUB | c.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 |
11 | g.8089647A>G | CA379562399 | TUB | c.76A>G (p.Lys26Glu) c.241A>G (p.Lys81Glu) c.94A>G (p.Lys32Glu) c.202A>G (p.Lys68Glu) c.112A>G (p.Lys38Glu) | |
11 | g.8089647A>T | CA379562401 | TUB | c.76A>T (p.Lys26Ter) c.241A>T (p.Lys81Ter) c.94A>T (p.Lys32Ter) c.202A>T (p.Lys68Ter) c.112A>T (p.Lys38Ter) | |
11 | g.8089648A>C | CA379562403 | TUB | c.77A>C (p.Lys26Thr) c.242A>C (p.Lys81Thr) c.95A>C (p.Lys32Thr) c.203A>C (p.Lys68Thr) c.113A>C (p.Lys38Thr) | |
11 | g.8089648A>G | CA379562405 | TUB | c.77A>G (p.Lys26Arg) c.242A>G (p.Lys81Arg) c.95A>G (p.Lys32Arg) c.203A>G (p.Lys68Arg) c.113A>G (p.Lys38Arg) | |
11 | g.8089648A>T | CA379562406 | TUB | c.77A>T (p.Lys26Met) c.242A>T (p.Lys81Met) c.95A>T (p.Lys32Met) c.203A>T (p.Lys68Met) c.113A>T (p.Lys38Met) | |
11 | g.8089649G>A | CA5870935 | TUB | c.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 |
11 | g.8089649G>C | CA5870936 | TUB | c.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 |
11 | g.8089649G= | CA1950952763 | TUB | c.78G= (p.Lys26=) c.243G= (p.Lys81=) c.96G= (p.Lys32=) c.204G= (p.Lys68=) c.114G= (p.Lys38=) | |
11 | g.8089649G>T | CA379562407 | TUB | c.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 |
11 | g.8089650C>A | CA379562411 | TUB | c.79C>A (p.Leu27Ile) c.244C>A (p.Leu82Ile) c.97C>A (p.Leu33Ile) c.205C>A (p.Leu69Ile) c.115C>A (p.Leu39Ile) | |
11 | g.8089650C>G | CA379562408 | TUB | c.79C>G (p.Leu27Val) c.244C>G (p.Leu82Val) c.97C>G (p.Leu33Val) c.205C>G (p.Leu69Val) c.115C>G (p.Leu39Val) | |
11 | g.8089650C>T | CA379562410 | TUB | c.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 |
11 | g.8089651T>A | CA379562414 | TUB | c.80T>A (p.Leu27His) c.245T>A (p.Leu82His) c.98T>A (p.Leu33His) c.206T>A (p.Leu69His) c.116T>A (p.Leu39His) | |
11 | g.8089651T>C | CA379562416 | TUB | c.80T>C (p.Leu27Pro) c.245T>C (p.Leu82Pro) c.98T>C (p.Leu33Pro) c.206T>C (p.Leu69Pro) c.116T>C (p.Leu39Pro) | |
11 | g.8089651T>G | CA379562418 | TUB | c.80T>G (p.Leu27Arg) c.245T>G (p.Leu82Arg) c.98T>G (p.Leu33Arg) c.206T>G (p.Leu69Arg) c.116T>G (p.Leu39Arg) | |
11 | g.8089652T>A | CA473009019 | TUB | c.81T>A (p.Leu27=) c.246T>A (p.Leu82=) c.99T>A (p.Leu33=) c.207T>A (p.Leu69=) c.117T>A (p.Leu39=) | |
11 | g.8089652T>C | CA473009020 | TUB | c.81T>C (p.Leu27=) c.246T>C (p.Leu82=) c.99T>C (p.Leu33=) c.207T>C (p.Leu69=) c.117T>C (p.Leu39=) | |
11 | g.8089652T>G | CA473009021 | TUB | c.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 |
11 | g.8089652T= | CA1950952770 | TUB | c.81T= (p.Leu27=) c.246T= (p.Leu82=) c.99T= (p.Leu33=) c.207T= (p.Leu69=) c.117T= (p.Leu39=) | |
11 | g.8089653G>A | CA379562420 | TUB | c.82G>A (p.Asp28Asn) c.247G>A (p.Asp83Asn) c.100G>A (p.Asp34Asn) c.208G>A (p.Asp70Asn) c.118G>A (p.Asp40Asn) | |
11 | g.8089653G>C | CA379562422 | TUB | c.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 |
11 | g.8089653G>T | CA379562424 | TUB | c.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 |
11 | g.8089654A>C | CA379562426 | TUB | c.83A>C (p.Asp28Ala) c.248A>C (p.Asp83Ala) c.101A>C (p.Asp34Ala) c.209A>C (p.Asp70Ala) c.119A>C (p.Asp40Ala) | |
11 | g.8089654A>G | CA379562428 | TUB | c.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 |
11 | g.8089654A>T | CA379562430 | TUB | c.83A>T (p.Asp28Val) c.248A>T (p.Asp83Val) c.101A>T (p.Asp34Val) c.209A>T (p.Asp70Val) c.119A>T (p.Asp40Val) | |
11 | g.8089655T>A | CA379562432 | TUB | c.84T>A (p.Asp28Glu) c.249T>A (p.Asp83Glu) c.102T>A (p.Asp34Glu) c.210T>A (p.Asp70Glu) c.120T>A (p.Asp40Glu) | |
11 | g.8089655T>C | CA473009022 | TUB | c.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 |
11 | g.8089655T>G | CA379562434 | TUB | c.84T>G (p.Asp28Glu) c.249T>G (p.Asp83Glu) c.102T>G (p.Asp34Glu) c.210T>G (p.Asp70Glu) c.120T>G (p.Asp40Glu) | |
11 | g.8089656C>A | CA217415099 | TUB | c.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 |
11 | g.8089656C= | CA1950952775 | TUB | c.85C= (p.Arg29=) c.250C= (p.Arg84=) c.103C= (p.Arg35=) c.211C= (p.Arg71=) c.121C= (p.Arg41=) | |
11 | g.8089656C>G | CA379562437 | TUB | c.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 |
11 | g.8089656C>T | CA5870937 | TUB | c.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 |
11 | g.8089657G>A | CA5870938 | TUB | c.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 |
11 | g.8089657G>C | CA379562441 | TUB | c.86G>C (p.Arg29Pro) c.251G>C (p.Arg84Pro) c.104G>C (p.Arg35Pro) c.212G>C (p.Arg71Pro) c.122G>C (p.Arg41Pro) | |
11 | g.8089657G= | CA1950952777 | TUB | c.86G= (p.Arg29=) c.251G= (p.Arg84=) c.104G= (p.Arg35=) c.212G= (p.Arg71=) c.122G= (p.Arg41=) | |
11 | g.8089657G>T | CA379562443 | TUB | c.86G>T (p.Arg29Leu) c.251G>T (p.Arg84Leu) c.104G>T (p.Arg35Leu) c.212G>T (p.Arg71Leu) c.122G>T (p.Arg41Leu) | |
11 | g.8089658G>A | CA473009023 | TUB | c.87G>A (p.Arg29=) c.252G>A (p.Arg84=) c.105G>A (p.Arg35=) c.213G>A (p.Arg71=) c.123G>A (p.Arg41=) | |
11 | g.8089658G>C | CA473009024 | TUB | c.87G>C (p.Arg29=) c.252G>C (p.Arg84=) c.105G>C (p.Arg35=) c.213G>C (p.Arg71=) c.123G>C (p.Arg41=) | |
11 | g.8089658G>T | CA473009025 | TUB | c.87G>T (p.Arg29=) c.252G>T (p.Arg84=) c.105G>T (p.Arg35=) c.213G>T (p.Arg71=) c.123G>T (p.Arg41=) | |
11 | g.8089659C>A | CA379562446 | TUB | c.88C>A (p.Gln30Lys) c.253C>A (p.Gln85Lys) c.106C>A (p.Gln36Lys) c.214C>A (p.Gln72Lys) c.124C>A (p.Gln42Lys) | |
11 | g.8089659C>G | CA379562447 | TUB | c.88C>G (p.Gln30Glu) c.253C>G (p.Gln85Glu) c.106C>G (p.Gln36Glu) c.214C>G (p.Gln72Glu) c.124C>G (p.Gln42Glu) | |
11 | g.8089659C>T | CA379562449 | TUB | c.88C>T (p.Gln30Ter) c.253C>T (p.Gln85Ter) c.106C>T (p.Gln36Ter) c.214C>T (p.Gln72Ter) c.124C>T (p.Gln42Ter) | |
11 | g.8089660A>C | CA379562451 | TUB | c.89A>C (p.Gln30Pro) c.254A>C (p.Gln85Pro) c.107A>C (p.Gln36Pro) c.215A>C (p.Gln72Pro) c.125A>C (p.Gln42Pro) | |
11 | g.8089660A>G | CA379562453 | TUB | c.89A>G (p.Gln30Arg) c.254A>G (p.Gln85Arg) c.107A>G (p.Gln36Arg) c.215A>G (p.Gln72Arg) c.125A>G (p.Gln42Arg) | |
11 | g.8089660A>T | CA379562455 | TUB | c.89A>T (p.Gln30Leu) c.254A>T (p.Gln85Leu) c.107A>T (p.Gln36Leu) c.215A>T (p.Gln72Leu) c.125A>T (p.Gln42Leu) | |
11 | g.8089661G>A | CA473009026 | TUB | c.90G>A (p.Gln30=) c.255G>A (p.Gln85=) c.108G>A (p.Gln36=) c.216G>A (p.Gln72=) c.126G>A (p.Gln42=) | |
11 | g.8089661G>C | CA379562457 | TUB | c.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 |
11 | g.8089661G>T | CA379562459 | TUB | c.90G>T (p.Gln30His) c.255G>T (p.Gln85His) c.108G>T (p.Gln36His) c.216G>T (p.Gln72His) c.126G>T (p.Gln42His) | |
11 | g.8089662G>A | CA379562465 | TUB | c.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) | |
11 | g.8089662G>C | CA379562463 | TUB | c.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) | |
11 | g.8089662G>T | CA379562461 | TUB | c.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) | |
11 | g.8089663T>A | CA379562468 | TUB | c.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) | |
11 | g.8089663T>C | CA379562470 | TUB | c.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) | |
11 | g.8089663T>G | CA5870939 | TUB | c.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 |
11 | g.8089663T= | CA1950952781 | TUB | c.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=) | |
11 | g.8089664G>A | CA2573147216 | TUB | c.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 |
11 | g.8089664G= | CA1950952785 | TUB | c.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=) | |
11 | g.8089664G>T | CA1950952786 | TUB | c.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 |
11 | g.8089665A= | CA1950952790 | TUB | c.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=) | |
11 | g.8089665A>C | CA597322472 | TUB | c.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 |
11 | g.8089665A>G | CA5870940 | TUB | c.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 |
11 | g.8089666G= | CA1950952792 | TUB | c.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=) | |
11 | g.8089667T>C | CA2612330361 | TUB | c.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 |
11 | g.8089667T>G | CA2574745770 | TUB | c.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) | |
11 | g.8089668_8089669insCTA | CA597322474 | TUB | c.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 |
11 | g.8089669G>A | CA2570712562 | TUB | c.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) | |
11 | g.8089671C= | CA1950952797 | TUB | c.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=) | |
11 | g.8089671C>T | CA5870941 | TUB | c.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 |
11 | g.8089672C>A | CA2574745771 | TUB | c.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) | |
11 | g.8089673T>C | CA2790351730 | TUB | c.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) | |
11 | g.8089674G>A | CA2612330362 | TUB | c.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 |
11 | g.8089675G= | CA1950952799 | TUB | c.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=) | |
11 | g.8089675G>T | CA1950952800 | TUB | c.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 |
11 | g.8089676G>T | CA2612330363 | TUB | c.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 |
11 | g.8089679dup | CA2842029651 | TUB | c.90+18dup (n.90+18dup) c.255+18dup (n.255+18dup) c.108+18dup (n.108+18dup) c.216+18dup (n.216+18dup) c.126+18dup (n.126+18dup) | |
11 | g.8089679C>A | CA597322480 | TUB | c.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 |
11 | g.8089679C= | CA1950952802 | TUB | c.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=) | |
11 | g.8089679C>T | CA5870942 | TUB | c.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 |
11 | g.8089680G>A | CA5870943 | TUB | c.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 |
11 | g.8089680G>C | CA5870944 | TUB | c.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 |
11 | g.8089680G= | CA1950952805 | TUB | c.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=) | |
11 | g.8089682dup | CA912973177 | TUB | c.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 |
11 | g.8089682G>C | CA2574745772 | TUB | c.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) | |
11 | g.8089683T>A | CA934888065 | TUB | c.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 |
11 | g.8089683T>C | CA2574745773 | TUB | c.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) | |
11 | g.8089683T>G | CA217415149 | TUB | c.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 |
11 | g.8089683T= | CA1950952809 | TUB | c.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=) | |
11 | g.8089684A>C | CA2842029652 | TUB | c.90+23A>C (n.90+23A>C) c.255+23A>C (n.255+23A>C) c.108+23A>C (n.108+23A>C) c.216+23A>C (n.216+23A>C) c.126+23A>C (n.126+23A>C) | |
11 | g.8089685G>A | CA217415154 | TUB | c.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 |
11 | g.8089685G= | CA1950952812 | TUB | c.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=) | |
11 | g.8089688G>A | CA1950952815 | TUB | c.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 |
11 | g.8089688G= | CA1950952814 | TUB | c.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=) | |
11 | g.8089688G>T | CA2612330364 | TUB | c.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 |
11 | g.8089690G>A | CA217415162 | TUB | c.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 |
11 | g.8089690G= | CA1950952818 | TUB | c.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=) | |
11 | g.8089690G>T | CA5870945 | TUB | c.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 |
11 | g.8089693G>A | CA5870946 | TUB | c.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 |
11 | g.8089693G= | CA1950952823 | TUB | c.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=) | |
11 | g.8089694A>G | CA2612330365 | TUB | c.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 |
11 | g.8089695G>C | CA2612330366 | TUB | c.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 |
11 | g.8089695G= | CA1950952826 | TUB | c.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=) | |
11 | g.8089695G>T | CA217415182 | TUB | c.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 |
11 | g.8089696T>A | CA934888071 | TUB | c.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 |
11 | g.8089696T>G | CA2612330367 | TUB | c.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 |
11 | g.8089696T= | CA1950952829 | TUB | c.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=) | |
11 | g.8089698T>G | CA2574745774 | TUB | c.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) | |
11 | g.8089698_8089699delinsTG | CA1950952831 | TUB | c.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) | |
11 | g.8089699G>A | CA2526561358 | TUB | c.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) | |
11 | g.8089699G>T | CA2839719946 | TUB | c.90+38G>T (n.90+38G>T) c.255+38G>T (n.255+38G>T) c.108+38G>T (n.108+38G>T) c.216+38G>T (n.216+38G>T) c.126+38G>T (n.126+38G>T) | |
11 | g.8089701del | CA680746996 | TUB | c.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 |
11 | g.8089701G>A | CA473009027 | TUB | c.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 |
11 | g.8089701G>C | CA680747010 | TUB | c.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 |
11 | g.8089701G= | CA1950952836 | TUB | c.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=) | |
11 | g.8089702C= | CA1950952840 | TUB | c.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=) | |
11 | g.8089702C>T | CA5870947 | TUB | c.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 |