Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.8090150_8090164del | CA2612330585 | TUB | c.172_186del (p.Ser58_Arg62del) c.337_351del (p.Ser113_Arg117del) c.190_204del (p.Ser64_Arg68del) c.298_312del (p.Ser100_Arg104del) c.208_222del (p.Ser70_Arg74del) | gnomAD v4 |
11 | g.8090159_8090160delinsGC | CA1950953481 | TUB | c.181_182delinsGC (p.Ala61=) c.346_347delinsGC (p.Ala116=) c.199_200delinsGC (p.Ala67=) c.307_308delinsGC (p.Ala103=) c.217_218delinsGC (p.Ala73=) | |
11 | g.8090160C>A | CA379562899 | TUB | c.182C>A (p.Ala61Asp) c.347C>A (p.Ala116Asp) c.200C>A (p.Ala67Asp) c.308C>A (p.Ala103Asp) c.218C>A (p.Ala73Asp) | |
11 | g.8090160C>G | CA379562900 | TUB | c.182C>G (p.Ala61Gly) c.347C>G (p.Ala116Gly) c.200C>G (p.Ala67Gly) c.308C>G (p.Ala103Gly) c.218C>G (p.Ala73Gly) | |
11 | g.8090160C>T | CA379562901 | TUB | c.182C>T (p.Ala61Val) c.347C>T (p.Ala116Val) c.200C>T (p.Ala67Val) c.308C>T (p.Ala103Val) c.218C>T (p.Ala73Val) | gnomAD v4 |
11 | g.8090162del | CA680747486 | TUB | c.184del (p.Arg62GlyfsTer?) c.349del (p.Arg117GlyfsTer?) c.202del (p.Arg68GlyfsTer?) c.310del (p.Arg104GlyfsTer?) c.220del (p.Arg74GlyfsTer?) | dbSNP |
11 | g.8090161C>A | CA473009092 | TUB | c.183C>A (p.Ala61=) c.348C>A (p.Ala116=) c.201C>A (p.Ala67=) c.309C>A (p.Ala103=) c.219C>A (p.Ala73=) | |
11 | g.8090161C= | CA1950953487 | TUB | c.183C= (p.Ala61=) c.348C= (p.Ala116=) c.201C= (p.Ala67=) c.309C= (p.Ala103=) c.219C= (p.Ala73=) | |
11 | g.8090161C>G | CA473009093 | TUB | c.183C>G (p.Ala61=) c.348C>G (p.Ala116=) c.201C>G (p.Ala67=) c.309C>G (p.Ala103=) c.219C>G (p.Ala73=) | |
11 | g.8090161C>T | CA217415615 | TUB | c.183C>T (p.Ala61=) c.348C>T (p.Ala116=) c.201C>T (p.Ala67=) c.309C>T (p.Ala103=) c.219C>T (p.Ala73=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090162C>A | CA5870987 | TUB | c.184C>A (p.Arg62=) c.349C>A (p.Arg117=) c.202C>A (p.Arg68=) c.310C>A (p.Arg104=) c.220C>A (p.Arg74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090162C= | CA1950953492 | TUB | c.184C= (p.Arg62=) c.349C= (p.Arg117=) c.202C= (p.Arg68=) c.310C= (p.Arg104=) c.220C= (p.Arg74=) | |
11 | g.8090162C>G | CA379562908 | TUB | c.184C>G (p.Arg62Gly) c.349C>G (p.Arg117Gly) c.202C>G (p.Arg68Gly) c.310C>G (p.Arg104Gly) c.220C>G (p.Arg74Gly) | gnomAD v4 |
11 | g.8090162C>T | CA5870986 | TUB | c.184C>T (p.Arg62Trp) c.349C>T (p.Arg117Trp) c.202C>T (p.Arg68Trp) c.310C>T (p.Arg104Trp) c.220C>T (p.Arg74Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090163G>A | CA5870989 | TUB | c.185G>A (p.Arg62Gln) c.350G>A (p.Arg117Gln) c.203G>A (p.Arg68Gln) c.311G>A (p.Arg104Gln) c.221G>A (p.Arg74Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090163G>C | CA379562912 | TUB | c.185G>C (p.Arg62Pro) c.350G>C (p.Arg117Pro) c.203G>C (p.Arg68Pro) c.311G>C (p.Arg104Pro) c.221G>C (p.Arg74Pro) | gnomAD v4 |
11 | g.8090163G= | CA1950953497 | TUB | c.185G= (p.Arg62=) c.350G= (p.Arg117=) c.203G= (p.Arg68=) c.311G= (p.Arg104=) c.221G= (p.Arg74=) | |
11 | g.8090163G>T | CA5870988 | TUB | c.185G>T (p.Arg62Leu) c.350G>T (p.Arg117Leu) c.203G>T (p.Arg68Leu) c.311G>T (p.Arg104Leu) c.221G>T (p.Arg74Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090164G>A | CA473009094 | TUB | c.186G>A (p.Arg62=) c.351G>A (p.Arg117=) c.204G>A (p.Arg68=) c.312G>A (p.Arg104=) c.222G>A (p.Arg74=) | |
11 | g.8090164G>C | CA473009096 | TUB | c.186G>C (p.Arg62=) c.351G>C (p.Arg117=) c.204G>C (p.Arg68=) c.312G>C (p.Arg104=) c.222G>C (p.Arg74=) | |
11 | g.8090164G>T | CA473009095 | TUB | c.186G>T (p.Arg62=) c.351G>T (p.Arg117=) c.204G>T (p.Arg68=) c.312G>T (p.Arg104=) c.222G>T (p.Arg74=) | |
11 | g.8090164_8090165delinsGC | CA1950953499 | TUB | c.186_187delinsGC (p.Arg62=) c.351_352delinsGC (p.Arg117=) c.204_205delinsGC (p.Arg68=) c.312_313delinsGC (p.Arg104=) c.222_223delinsGC (p.Arg74=) | |
11 | g.8090165del | CA5870990 | TUB | c.187del (p.Gln63SerfsTer?) c.352del (p.Gln118SerfsTer?) c.205del (p.Gln69SerfsTer?) c.313del (p.Gln105SerfsTer?) c.223del (p.Gln75SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090165C>A | CA379562920 | TUB | c.187C>A (p.Gln63Lys) c.352C>A (p.Gln118Lys) c.205C>A (p.Gln69Lys) c.313C>A (p.Gln105Lys) c.223C>A (p.Gln75Lys) | |
11 | g.8090165C>G | CA379562917 | TUB | c.187C>G (p.Gln63Glu) c.352C>G (p.Gln118Glu) c.205C>G (p.Gln69Glu) c.313C>G (p.Gln105Glu) c.223C>G (p.Gln75Glu) | |
11 | g.8090165C>T | CA379562916 | TUB | c.187C>T (p.Gln63Ter) c.352C>T (p.Gln118Ter) c.205C>T (p.Gln69Ter) c.313C>T (p.Gln105Ter) c.223C>T (p.Gln75Ter) | |
11 | g.8090166A>C | CA379562923 | TUB | c.188A>C (p.Gln63Pro) c.353A>C (p.Gln118Pro) c.206A>C (p.Gln69Pro) c.314A>C (p.Gln105Pro) c.224A>C (p.Gln75Pro) | |
11 | g.8090166A>G | CA379562924 | TUB | c.188A>G (p.Gln63Arg) c.353A>G (p.Gln118Arg) c.206A>G (p.Gln69Arg) c.314A>G (p.Gln105Arg) c.224A>G (p.Gln75Arg) | |
11 | g.8090166A>T | CA379562926 | TUB | c.188A>T (p.Gln63Leu) c.353A>T (p.Gln118Leu) c.206A>T (p.Gln69Leu) c.314A>T (p.Gln105Leu) c.224A>T (p.Gln75Leu) | |
11 | g.8090167G>A | CA473009097 | TUB | c.189G>A (p.Gln63=) c.354G>A (p.Gln118=) c.207G>A (p.Gln69=) c.315G>A (p.Gln105=) c.225G>A (p.Gln75=) | |
11 | g.8090167G>C | CA379562928 | TUB | c.189G>C (p.Gln63His) c.354G>C (p.Gln118His) c.207G>C (p.Gln69His) c.315G>C (p.Gln105His) c.225G>C (p.Gln75His) | |
11 | g.8090167G>T | CA379562930 | TUB | c.189G>T (p.Gln63His) c.354G>T (p.Gln118His) c.207G>T (p.Gln69His) c.315G>T (p.Gln105His) c.225G>T (p.Gln75His) | ClinVar dbSNP |
11 | g.8090168T>A | CA379562932 | TUB | c.190T>A (p.Ser64Thr) c.355T>A (p.Ser119Thr) c.208T>A (p.Ser70Thr) c.316T>A (p.Ser106Thr) c.226T>A (p.Ser76Thr) | |
11 | g.8090168T>C | CA5870991 | TUB | c.190T>C (p.Ser64Pro) c.355T>C (p.Ser119Pro) c.208T>C (p.Ser70Pro) c.316T>C (p.Ser106Pro) c.226T>C (p.Ser76Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090168T>G | CA379562935 | TUB | c.190T>G (p.Ser64Ala) c.355T>G (p.Ser119Ala) c.208T>G (p.Ser70Ala) c.316T>G (p.Ser106Ala) c.226T>G (p.Ser76Ala) | dbSNP |
11 | g.8090168T= | CA1950953504 | TUB | c.190T= (p.Ser64=) c.355T= (p.Ser119=) c.208T= (p.Ser70=) c.316T= (p.Ser106=) c.226T= (p.Ser76=) | |
11 | g.8090169C>A | CA379562938 | TUB | c.191C>A (p.Ser64Ter) c.356C>A (p.Ser119Ter) c.209C>A (p.Ser70Ter) c.317C>A (p.Ser106Ter) c.227C>A (p.Ser76Ter) | |
11 | g.8090169C>G | CA379562940 | TUB | c.191C>G (p.Ser64Ter) c.356C>G (p.Ser119Ter) c.209C>G (p.Ser70Ter) c.317C>G (p.Ser106Ter) c.227C>G (p.Ser76Ter) | |
11 | g.8090169C>T | CA379562942 | TUB | c.191C>T (p.Ser64Leu) c.356C>T (p.Ser119Leu) c.209C>T (p.Ser70Leu) c.317C>T (p.Ser106Leu) c.227C>T (p.Ser76Leu) | gnomAD v4 |
11 | g.8090170A>C | CA473009098 | TUB | c.192A>C (p.Ser64=) c.357A>C (p.Ser119=) c.210A>C (p.Ser70=) c.318A>C (p.Ser106=) c.228A>C (p.Ser76=) | |
11 | g.8090170A>G | CA473009099 | TUB | c.192A>G (p.Ser64=) c.357A>G (p.Ser119=) c.210A>G (p.Ser70=) c.318A>G (p.Ser106=) c.228A>G (p.Ser76=) | |
11 | g.8090170A>T | CA473009100 | TUB | c.192A>T (p.Ser64=) c.357A>T (p.Ser119=) c.210A>T (p.Ser70=) c.318A>T (p.Ser106=) c.228A>T (p.Ser76=) | |
11 | g.8090171G>A | CA379562949 | TUB | c.193G>A (p.Glu65Lys) c.358G>A (p.Glu120Lys) c.211G>A (p.Glu71Lys) c.319G>A (p.Glu107Lys) c.229G>A (p.Glu77Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.8090171G>C | CA379562946 | TUB | c.193G>C (p.Glu65Gln) c.358G>C (p.Glu120Gln) c.211G>C (p.Glu71Gln) c.319G>C (p.Glu107Gln) c.229G>C (p.Glu77Gln) | |
11 | g.8090171G= | CA1950953508 | TUB | c.193G= (p.Glu65=) c.358G= (p.Glu120=) c.211G= (p.Glu71=) c.319G= (p.Glu107=) c.229G= (p.Glu77=) | |
11 | g.8090171G>T | CA379562944 | TUB | c.193G>T (p.Glu65Ter) c.358G>T (p.Glu120Ter) c.211G>T (p.Glu71Ter) c.319G>T (p.Glu107Ter) c.229G>T (p.Glu77Ter) | |
11 | g.8090172A>C | CA379562951 | TUB | c.194A>C (p.Glu65Ala) c.359A>C (p.Glu120Ala) c.212A>C (p.Glu71Ala) c.320A>C (p.Glu107Ala) c.230A>C (p.Glu77Ala) | |
11 | g.8090172A>G | CA379562953 | TUB | c.194A>G (p.Glu65Gly) c.359A>G (p.Glu120Gly) c.212A>G (p.Glu71Gly) c.320A>G (p.Glu107Gly) c.230A>G (p.Glu77Gly) | gnomAD v4 |
11 | g.8090172A>T | CA379562955 | TUB | c.194A>T (p.Glu65Val) c.359A>T (p.Glu120Val) c.212A>T (p.Glu71Val) c.320A>T (p.Glu107Val) c.230A>T (p.Glu77Val) | |
11 | g.8090173G>A | CA473009101 | TUB | c.195G>A (p.Glu65=) c.360G>A (p.Glu120=) c.213G>A (p.Glu71=) c.321G>A (p.Glu107=) c.231G>A (p.Glu77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090173G>C | CA379562958 | TUB | c.195G>C (p.Glu65Asp) c.360G>C (p.Glu120Asp) c.213G>C (p.Glu71Asp) c.321G>C (p.Glu107Asp) c.231G>C (p.Glu77Asp) | |
11 | g.8090173G= | CA1950953511 | TUB | c.195G= (p.Glu65=) c.360G= (p.Glu120=) c.213G= (p.Glu71=) c.321G= (p.Glu107=) c.231G= (p.Glu77=) | |
11 | g.8090173G>T | CA379562959 | TUB | c.195G>T (p.Glu65Asp) c.360G>T (p.Glu120Asp) c.213G>T (p.Glu71Asp) c.321G>T (p.Glu107Asp) c.231G>T (p.Glu77Asp) | |
11 | g.8090174G>A | CA379562961 | TUB | c.196G>A (p.Glu66Lys) c.361G>A (p.Glu121Lys) c.214G>A (p.Glu72Lys) c.322G>A (p.Glu108Lys) c.232G>A (p.Glu78Lys) | |
11 | g.8090174G>C | CA379562963 | TUB | c.196G>C (p.Glu66Gln) c.361G>C (p.Glu121Gln) c.214G>C (p.Glu72Gln) c.322G>C (p.Glu108Gln) c.232G>C (p.Glu78Gln) | |
11 | g.8090174G>T | CA379562965 | TUB | c.196G>T (p.Glu66Ter) c.361G>T (p.Glu121Ter) c.214G>T (p.Glu72Ter) c.322G>T (p.Glu108Ter) c.232G>T (p.Glu78Ter) | |
11 | g.8090175A>C | CA379562968 | TUB | c.197A>C (p.Glu66Ala) c.362A>C (p.Glu121Ala) c.215A>C (p.Glu72Ala) c.323A>C (p.Glu108Ala) c.233A>C (p.Glu78Ala) | |
11 | g.8090175A>G | CA379562969 | TUB | c.197A>G (p.Glu66Gly) c.362A>G (p.Glu121Gly) c.215A>G (p.Glu72Gly) c.323A>G (p.Glu108Gly) c.233A>G (p.Glu78Gly) | |
11 | g.8090175A>T | CA379562970 | TUB | c.197A>T (p.Glu66Val) c.362A>T (p.Glu121Val) c.215A>T (p.Glu72Val) c.323A>T (p.Glu108Val) c.233A>T (p.Glu78Val) | |
11 | g.8090176A>C | CA379562972 | TUB | c.198A>C (p.Glu66Asp) c.363A>C (p.Glu121Asp) c.216A>C (p.Glu72Asp) c.324A>C (p.Glu108Asp) c.234A>C (p.Glu78Asp) | |
11 | g.8090176A>G | CA473009102 | TUB | c.198A>G (p.Glu66=) c.363A>G (p.Glu121=) c.216A>G (p.Glu72=) c.324A>G (p.Glu108=) c.234A>G (p.Glu78=) | COSMIC |
11 | g.8090176A>T | CA379562974 | TUB | c.198A>T (p.Glu66Asp) c.363A>T (p.Glu121Asp) c.216A>T (p.Glu72Asp) c.324A>T (p.Glu108Asp) c.234A>T (p.Glu78Asp) | |
11 | g.8090177C>A | CA379562981 | TUB | c.199C>A (p.Gln67Lys) c.364C>A (p.Gln122Lys) c.217C>A (p.Gln73Lys) c.325C>A (p.Gln109Lys) c.235C>A (p.Gln79Lys) | dbSNP gnomAD v4 |
11 | g.8090177C= | CA1950953514 | TUB | c.199C= (p.Gln67=) c.364C= (p.Gln122=) c.217C= (p.Gln73=) c.325C= (p.Gln109=) c.235C= (p.Gln79=) | |
11 | g.8090177C>G | CA379562977 | TUB | c.199C>G (p.Gln67Glu) c.364C>G (p.Gln122Glu) c.217C>G (p.Gln73Glu) c.325C>G (p.Gln109Glu) c.235C>G (p.Gln79Glu) | |
11 | g.8090177C>T | CA379562979 | TUB | c.199C>T (p.Gln67Ter) c.364C>T (p.Gln122Ter) c.217C>T (p.Gln73Ter) c.325C>T (p.Gln109Ter) c.235C>T (p.Gln79Ter) | |
11 | g.8090178A>C | CA379562983 | TUB | c.200A>C (p.Gln67Pro) c.365A>C (p.Gln122Pro) c.218A>C (p.Gln73Pro) c.326A>C (p.Gln109Pro) c.236A>C (p.Gln79Pro) | |
11 | g.8090178A>G | CA379562985 | TUB | c.200A>G (p.Gln67Arg) c.365A>G (p.Gln122Arg) c.218A>G (p.Gln73Arg) c.326A>G (p.Gln109Arg) c.236A>G (p.Gln79Arg) | |
11 | g.8090178A>T | CA379562987 | TUB | c.200A>T (p.Gln67Leu) c.365A>T (p.Gln122Leu) c.218A>T (p.Gln73Leu) c.326A>T (p.Gln109Leu) c.236A>T (p.Gln79Leu) | |
11 | g.8090178_8090192delinsAAGCCCCCCTGGTGG | CA1950953517 | TUB | c.200_214delinsAAGCCCCCCTGGTGG (p.Gln67=) c.365_379delinsAAGCCCCCCTGGTGG (p.Gln122=) c.218_232delinsAAGCCCCCCTGGTGG (p.Gln73=) c.326_340delinsAAGCCCCCCTGGTGG (p.Gln109=) c.236_250delinsAAGCCCCCCTGGTGG (p.Gln79=) | |
11 | g.8090179A>C | CA379562989 | TUB | c.201A>C (p.Gln67His) c.366A>C (p.Gln122His) c.219A>C (p.Gln73His) c.327A>C (p.Gln109His) c.237A>C (p.Gln79His) | |
11 | g.8090179A>G | CA473009103 | TUB | c.201A>G (p.Gln67=) c.366A>G (p.Gln122=) c.219A>G (p.Gln73=) c.327A>G (p.Gln109=) c.237A>G (p.Gln79=) | |
11 | g.8090179A>T | CA379562991 | TUB | c.201A>T (p.Gln67His) c.366A>T (p.Gln122His) c.219A>T (p.Gln73His) c.327A>T (p.Gln109His) c.237A>T (p.Gln79His) | |
11 | g.8090181_8090194del | CA5870992 | TUB | c.203_216del (p.Ala68ValfsTer?) c.368_381del (p.Ala123ValfsTer?) c.221_234del (p.Ala74ValfsTer?) c.329_342del (p.Ala110ValfsTer?) c.239_252del (p.Ala80ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090180G>A | CA379562995 | TUB | c.202G>A (p.Ala68Thr) c.367G>A (p.Ala123Thr) c.220G>A (p.Ala74Thr) c.328G>A (p.Ala110Thr) c.238G>A (p.Ala80Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090180G>C | CA379562997 | TUB | c.202G>C (p.Ala68Pro) c.367G>C (p.Ala123Pro) c.220G>C (p.Ala74Pro) c.328G>C (p.Ala110Pro) c.238G>C (p.Ala80Pro) | |
11 | g.8090180G= | CA1950953522 | TUB | c.202G= (p.Ala68=) c.367G= (p.Ala123=) c.220G= (p.Ala74=) c.328G= (p.Ala110=) c.238G= (p.Ala80=) | |
11 | g.8090180G>T | CA379562999 | TUB | c.202G>T (p.Ala68Ser) c.367G>T (p.Ala123Ser) c.220G>T (p.Ala74Ser) c.328G>T (p.Ala110Ser) c.238G>T (p.Ala80Ser) | |
11 | g.8090181C>A | CA379563001 | TUB | c.203C>A (p.Ala68Asp) c.368C>A (p.Ala123Asp) c.221C>A (p.Ala74Asp) c.329C>A (p.Ala110Asp) c.239C>A (p.Ala80Asp) | gnomAD v4 |
11 | g.8090181C= | CA1950953525 | TUB | c.203C= (p.Ala68=) c.368C= (p.Ala123=) c.221C= (p.Ala74=) c.329C= (p.Ala110=) c.239C= (p.Ala80=) | |
11 | g.8090181C>G | CA379563003 | TUB | c.203C>G (p.Ala68Gly) c.368C>G (p.Ala123Gly) c.221C>G (p.Ala74Gly) c.329C>G (p.Ala110Gly) c.239C>G (p.Ala80Gly) | |
11 | g.8090181C>T | CA5870993 | TUB | c.203C>T (p.Ala68Val) c.368C>T (p.Ala123Val) c.221C>T (p.Ala74Val) c.329C>T (p.Ala110Val) c.239C>T (p.Ala80Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090186dup | CA597441574 | TUB | c.208dup (p.Leu70ProfsTer?) c.373dup (p.Leu125ProfsTer?) c.226dup (p.Leu76ProfsTer?) c.334dup (p.Leu112ProfsTer?) c.244dup (p.Leu82ProfsTer?) | gnomAD v2 |
11 | g.8090183_8090186dup | CA2790351904 | TUB | c.205_208dup (p.Leu70ProfsTer?) c.370_373dup (p.Leu125ProfsTer?) c.223_226dup (p.Leu76ProfsTer?) c.331_334dup (p.Leu112ProfsTer?) c.241_244dup (p.Leu82ProfsTer?) | |
11 | g.8090186del | CA473009104 | TUB | c.208del (p.Leu70TrpfsTer?) c.373del (p.Leu125TrpfsTer?) c.226del (p.Leu76TrpfsTer?) c.334del (p.Leu112TrpfsTer?) c.244del (p.Leu82TrpfsTer?) | gnomAD v4 COSMIC |
11 | g.8090182C>A | CA473009105 | TUB | c.204C>A (p.Ala68=) c.369C>A (p.Ala123=) c.222C>A (p.Ala74=) c.330C>A (p.Ala110=) c.240C>A (p.Ala80=) | dbSNP COSMIC |
11 | g.8090182C= | CA1950953531 | TUB | c.204C= (p.Ala68=) c.369C= (p.Ala123=) c.222C= (p.Ala74=) c.330C= (p.Ala110=) c.240C= (p.Ala80=) | |
11 | g.8090182C>G | CA473009106 | TUB | c.204C>G (p.Ala68=) c.369C>G (p.Ala123=) c.222C>G (p.Ala74=) c.330C>G (p.Ala110=) c.240C>G (p.Ala80=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090182C>T | CA5870994 | TUB | c.204C>T (p.Ala68=) c.369C>T (p.Ala123=) c.222C>T (p.Ala74=) c.330C>T (p.Ala110=) c.240C>T (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090184_8090197dup | CA2612330586 | TUB | c.206_219dup (p.Tyr74ProfsTer?) c.371_384dup (p.Tyr129ProfsTer?) c.224_237dup (p.Tyr80ProfsTer?) c.332_345dup (p.Tyr116ProfsTer?) c.242_255dup (p.Tyr86ProfsTer?) | gnomAD v4 |
11 | g.8090183C>A | CA379563007 | TUB | c.205C>A (p.Pro69Thr) c.370C>A (p.Pro124Thr) c.223C>A (p.Pro75Thr) c.331C>A (p.Pro111Thr) c.241C>A (p.Pro81Thr) | |
11 | g.8090183C= | CA1950953535 | TUB | c.205C= (p.Pro69=) c.370C= (p.Pro124=) c.223C= (p.Pro75=) c.331C= (p.Pro111=) c.241C= (p.Pro81=) | |
11 | g.8090183C>G | CA379563008 | TUB | c.205C>G (p.Pro69Ala) c.370C>G (p.Pro124Ala) c.223C>G (p.Pro75Ala) c.331C>G (p.Pro111Ala) c.241C>G (p.Pro81Ala) | |
11 | g.8090183C>T | CA217415637 | TUB | c.205C>T (p.Pro69Ser) c.370C>T (p.Pro124Ser) c.223C>T (p.Pro75Ser) c.331C>T (p.Pro111Ser) c.241C>T (p.Pro81Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090184C>A | CA379563014 | TUB | c.206C>A (p.Pro69His) c.371C>A (p.Pro124His) c.224C>A (p.Pro75His) c.332C>A (p.Pro111His) c.242C>A (p.Pro81His) | |
11 | g.8090184C= | CA1950953537 | TUB | c.206C= (p.Pro69=) c.371C= (p.Pro124=) c.224C= (p.Pro75=) c.332C= (p.Pro111=) c.242C= (p.Pro81=) | |
11 | g.8090184C>G | CA379563011 | TUB | c.206C>G (p.Pro69Arg) c.371C>G (p.Pro124Arg) c.224C>G (p.Pro75Arg) c.332C>G (p.Pro111Arg) c.242C>G (p.Pro81Arg) | |
11 | g.8090184C>T | CA379563012 | TUB | c.206C>T (p.Pro69Leu) c.371C>T (p.Pro124Leu) c.224C>T (p.Pro75Leu) c.332C>T (p.Pro111Leu) c.242C>T (p.Pro81Leu) | dbSNP |
11 | g.8090185C>A | CA473009107 | TUB | c.207C>A (p.Pro69=) c.372C>A (p.Pro124=) c.225C>A (p.Pro75=) c.333C>A (p.Pro111=) c.243C>A (p.Pro81=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090185C= | CA1950953541 | TUB | c.207C= (p.Pro69=) c.372C= (p.Pro124=) c.225C= (p.Pro75=) c.333C= (p.Pro111=) c.243C= (p.Pro81=) | |
11 | g.8090185C>G | CA473009108 | TUB | c.207C>G (p.Pro69=) c.372C>G (p.Pro124=) c.225C>G (p.Pro75=) c.333C>G (p.Pro111=) c.243C>G (p.Pro81=) | gnomAD v4 |
11 | g.8090185C>T | CA5870995 | TUB | c.207C>T (p.Pro69=) c.372C>T (p.Pro124=) c.225C>T (p.Pro75=) c.333C>T (p.Pro111=) c.243C>T (p.Pro81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090186C>A | CA379563016 | TUB | c.208C>A (p.Leu70Met) c.373C>A (p.Leu125Met) c.226C>A (p.Leu76Met) c.334C>A (p.Leu112Met) c.244C>A (p.Leu82Met) | |
11 | g.8090186C>G | CA379563018 | TUB | c.208C>G (p.Leu70Val) c.373C>G (p.Leu125Val) c.226C>G (p.Leu76Val) c.334C>G (p.Leu112Val) c.244C>G (p.Leu82Val) | |
11 | g.8090186C>T | CA473009109 | TUB | c.208C>T (p.Leu70=) c.373C>T (p.Leu125=) c.226C>T (p.Leu76=) c.334C>T (p.Leu112=) c.244C>T (p.Leu82=) | |
11 | g.8090187del | CA2790351910 | TUB | c.209del (p.Leu70ArgfsTer?) c.374del (p.Leu125ArgfsTer?) c.227del (p.Leu76ArgfsTer?) c.335del (p.Leu112ArgfsTer?) c.245del (p.Leu82ArgfsTer?) | |
11 | g.8090187T>A | CA379563025 | TUB | c.209T>A (p.Leu70Gln) c.374T>A (p.Leu125Gln) c.227T>A (p.Leu76Gln) c.335T>A (p.Leu112Gln) c.245T>A (p.Leu82Gln) | gnomAD v4 |
11 | g.8090187T>C | CA379563023 | TUB | c.209T>C (p.Leu70Pro) c.374T>C (p.Leu125Pro) c.227T>C (p.Leu76Pro) c.335T>C (p.Leu112Pro) c.245T>C (p.Leu82Pro) | |
11 | g.8090187T>G | CA379563021 | TUB | c.209T>G (p.Leu70Arg) c.374T>G (p.Leu125Arg) c.227T>G (p.Leu76Arg) c.335T>G (p.Leu112Arg) c.245T>G (p.Leu82Arg) | |
11 | g.8090188G>A | CA473009112 | TUB | c.210G>A (p.Leu70=) c.375G>A (p.Leu125=) c.228G>A (p.Leu76=) c.336G>A (p.Leu112=) c.246G>A (p.Leu82=) | dbSNP |
11 | g.8090188G>C | CA473009111 | TUB | c.210G>C (p.Leu70=) c.375G>C (p.Leu125=) c.228G>C (p.Leu76=) c.336G>C (p.Leu112=) c.246G>C (p.Leu82=) | |
11 | g.8090188G= | CA1950953547 | TUB | c.210G= (p.Leu70=) c.375G= (p.Leu125=) c.228G= (p.Leu76=) c.336G= (p.Leu112=) c.246G= (p.Leu82=) | |
11 | g.8090188G>T | CA473009110 | TUB | c.210G>T (p.Leu70=) c.375G>T (p.Leu125=) c.228G>T (p.Leu76=) c.336G>T (p.Leu112=) c.246G>T (p.Leu82=) | |
11 | g.8090189G>A | CA379563027 | TUB | c.211G>A (p.Val71Met) c.376G>A (p.Val126Met) c.229G>A (p.Val77Met) c.337G>A (p.Val113Met) c.247G>A (p.Val83Met) | |
11 | g.8090189G>C | CA379563029 | TUB | c.211G>C (p.Val71Leu) c.376G>C (p.Val126Leu) c.229G>C (p.Val77Leu) c.337G>C (p.Val113Leu) c.247G>C (p.Val83Leu) | |
11 | g.8090189G>T | CA379563031 | TUB | c.211G>T (p.Val71Leu) c.376G>T (p.Val126Leu) c.229G>T (p.Val77Leu) c.337G>T (p.Val113Leu) c.247G>T (p.Val83Leu) | |
11 | g.8090190T>A | CA379563033 | TUB | c.212T>A (p.Val71Glu) c.377T>A (p.Val126Glu) c.230T>A (p.Val77Glu) c.338T>A (p.Val113Glu) c.248T>A (p.Val83Glu) | |
11 | g.8090190T>C | CA379563035 | TUB | c.212T>C (p.Val71Ala) c.377T>C (p.Val126Ala) c.230T>C (p.Val77Ala) c.338T>C (p.Val113Ala) c.248T>C (p.Val83Ala) | |
11 | g.8090190T>G | CA379563037 | TUB | c.212T>G (p.Val71Gly) c.377T>G (p.Val126Gly) c.230T>G (p.Val77Gly) c.338T>G (p.Val113Gly) c.248T>G (p.Val83Gly) | dbSNP |
11 | g.8090190T= | CA1950953549 | TUB | c.212T= (p.Val71=) c.377T= (p.Val126=) c.230T= (p.Val77=) c.338T= (p.Val113=) c.248T= (p.Val83=) | |
11 | g.8090191G>A | CA473009113 | TUB | c.213G>A (p.Val71=) c.378G>A (p.Val126=) c.231G>A (p.Val77=) c.339G>A (p.Val113=) c.249G>A (p.Val83=) | gnomAD v4 |
11 | g.8090191G>C | CA473009114 | TUB | c.213G>C (p.Val71=) c.378G>C (p.Val126=) c.231G>C (p.Val77=) c.339G>C (p.Val113=) c.249G>C (p.Val83=) | |
11 | g.8090191G>T | CA473009115 | TUB | c.213G>T (p.Val71=) c.378G>T (p.Val126=) c.231G>T (p.Val77=) c.339G>T (p.Val113=) c.249G>T (p.Val83=) | |
11 | g.8090192G>A | CA379563043 | TUB | c.214G>A (p.Glu72Lys) c.379G>A (p.Glu127Lys) c.232G>A (p.Glu78Lys) c.340G>A (p.Glu114Lys) c.250G>A (p.Glu84Lys) | dbSNP |
11 | g.8090192G>C | CA379563039 | TUB | c.214G>C (p.Glu72Gln) c.379G>C (p.Glu127Gln) c.232G>C (p.Glu78Gln) c.340G>C (p.Glu114Gln) c.250G>C (p.Glu84Gln) | |
11 | g.8090192G= | CA1950953552 | TUB | c.214G= (p.Glu72=) c.379G= (p.Glu127=) c.232G= (p.Glu78=) c.340G= (p.Glu114=) c.250G= (p.Glu84=) | |
11 | g.8090192G>T | CA379563041 | TUB | c.214G>T (p.Glu72Ter) c.379G>T (p.Glu127Ter) c.232G>T (p.Glu78Ter) c.340G>T (p.Glu114Ter) c.250G>T (p.Glu84Ter) | dbSNP gnomAD v2 |
11 | g.8090193A= | CA1950953557 | TUB | c.215A= (p.Glu72=) c.380A= (p.Glu127=) c.233A= (p.Glu78=) c.341A= (p.Glu114=) c.251A= (p.Glu84=) | |
11 | g.8090193A>C | CA379563044 | TUB | c.215A>C (p.Glu72Ala) c.380A>C (p.Glu127Ala) c.233A>C (p.Glu78Ala) c.341A>C (p.Glu114Ala) c.251A>C (p.Glu84Ala) | dbSNP |
11 | g.8090193A>G | CA379563046 | TUB | c.215A>G (p.Glu72Gly) c.380A>G (p.Glu127Gly) c.233A>G (p.Glu78Gly) c.341A>G (p.Glu114Gly) c.251A>G (p.Glu84Gly) | |
11 | g.8090193A>T | CA379563048 | TUB | c.215A>T (p.Glu72Val) c.380A>T (p.Glu127Val) c.233A>T (p.Glu78Val) c.341A>T (p.Glu114Val) c.251A>T (p.Glu84Val) | |
11 | g.8090194G>A | CA473009116 | TUB | c.216G>A (p.Glu72=) c.381G>A (p.Glu127=) c.234G>A (p.Glu78=) c.342G>A (p.Glu114=) c.252G>A (p.Glu84=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090194G>C | CA379563049 | TUB | c.216G>C (p.Glu72Asp) c.381G>C (p.Glu127Asp) c.234G>C (p.Glu78Asp) c.342G>C (p.Glu114Asp) c.252G>C (p.Glu84Asp) | |
11 | g.8090194G= | CA1950953559 | TUB | c.216G= (p.Glu72=) c.381G= (p.Glu127=) c.234G= (p.Glu78=) c.342G= (p.Glu114=) c.252G= (p.Glu84=) | |
11 | g.8090194G>T | CA379563050 | TUB | c.216G>T (p.Glu72Asp) c.381G>T (p.Glu127Asp) c.234G>T (p.Glu78Asp) c.342G>T (p.Glu114Asp) c.252G>T (p.Glu84Asp) | |
11 | g.8090195T>A | CA379563052 | TUB | c.217T>A (p.Ser73Thr) c.382T>A (p.Ser128Thr) c.235T>A (p.Ser79Thr) c.343T>A (p.Ser115Thr) c.253T>A (p.Ser85Thr) | |
11 | g.8090195T>C | CA379563054 | TUB | c.217T>C (p.Ser73Pro) c.382T>C (p.Ser128Pro) c.235T>C (p.Ser79Pro) c.343T>C (p.Ser115Pro) c.253T>C (p.Ser85Pro) | |
11 | g.8090195T>G | CA379563055 | TUB | c.217T>G (p.Ser73Ala) c.382T>G (p.Ser128Ala) c.235T>G (p.Ser79Ala) c.343T>G (p.Ser115Ala) c.253T>G (p.Ser85Ala) | |
11 | g.8090196C>A | CA379563058 | TUB | c.218C>A (p.Ser73Tyr) c.383C>A (p.Ser128Tyr) c.236C>A (p.Ser79Tyr) c.344C>A (p.Ser115Tyr) c.254C>A (p.Ser85Tyr) | |
11 | g.8090196C= | CA1950953562 | TUB | c.218C= (p.Ser73=) c.383C= (p.Ser128=) c.236C= (p.Ser79=) c.344C= (p.Ser115=) c.254C= (p.Ser85=) | |
11 | g.8090196C>G | CA379563060 | TUB | c.218C>G (p.Ser73Cys) c.383C>G (p.Ser128Cys) c.236C>G (p.Ser79Cys) c.344C>G (p.Ser115Cys) c.254C>G (p.Ser85Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090196C>T | CA5870996 | TUB | c.218C>T (p.Ser73Phe) c.383C>T (p.Ser128Phe) c.236C>T (p.Ser79Phe) c.344C>T (p.Ser115Phe) c.254C>T (p.Ser85Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197C>A | CA473009117 | TUB | c.219C>A (p.Ser73=) c.384C>A (p.Ser128=) c.237C>A (p.Ser79=) c.345C>A (p.Ser115=) c.255C>A (p.Ser85=) | |
11 | g.8090197C= | CA1950953567 | TUB | c.219C= (p.Ser73=) c.384C= (p.Ser128=) c.237C= (p.Ser79=) c.345C= (p.Ser115=) c.255C= (p.Ser85=) | |
11 | g.8090197C>G | CA5870997 | TUB | c.219C>G (p.Ser73=) c.384C>G (p.Ser128=) c.237C>G (p.Ser79=) c.345C>G (p.Ser115=) c.255C>G (p.Ser85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197C>T | CA5870999 | TUB | c.219C>T (p.Ser73=) c.384C>T (p.Ser128=) c.237C>T (p.Ser79=) c.345C>T (p.Ser115=) c.255C>T (p.Ser85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197_8090202delinsCTACCT | CA1950953569 | TUB | c.219_224delinsCTACCT (p.Ser73=) c.384_389delinsCTACCT (p.Ser128=) c.237_242delinsCTACCT (p.Ser79=) c.345_350delinsCTACCT (p.Ser115=) c.255_260delinsCTACCT (p.Ser85=) | |
11 | g.8090198T>A | CA379563065 | TUB | c.220T>A (p.Tyr74Asn) c.385T>A (p.Tyr129Asn) c.238T>A (p.Tyr80Asn) c.346T>A (p.Tyr116Asn) c.256T>A (p.Tyr86Asn) | |
11 | g.8090198T>C | CA379563067 | TUB | c.220T>C (p.Tyr74His) c.385T>C (p.Tyr129His) c.238T>C (p.Tyr80His) c.346T>C (p.Tyr116His) c.256T>C (p.Tyr86His) | |
11 | g.8090198T>G | CA379563069 | TUB | c.220T>G (p.Tyr74Asp) c.385T>G (p.Tyr129Asp) c.238T>G (p.Tyr80Asp) c.346T>G (p.Tyr116Asp) c.256T>G (p.Tyr86Asp) | |
11 | g.8090198_8090202del | CA5870998 | TUB | c.220_224del (p.Tyr74GlnfsTer?) c.385_389del (p.Tyr129GlnfsTer?) c.238_242del (p.Tyr80GlnfsTer?) c.346_350del (p.Tyr116GlnfsTer?) c.256_260del (p.Tyr86GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090199A>C | CA379563071 | TUB | c.221A>C (p.Tyr74Ser) c.386A>C (p.Tyr129Ser) c.239A>C (p.Tyr80Ser) c.347A>C (p.Tyr116Ser) c.257A>C (p.Tyr86Ser) | |
11 | g.8090199A>G | CA379563072 | TUB | c.221A>G (p.Tyr74Cys) c.386A>G (p.Tyr129Cys) c.239A>G (p.Tyr80Cys) c.347A>G (p.Tyr116Cys) c.257A>G (p.Tyr86Cys) | |
11 | g.8090199A>T | CA379563074 | TUB | c.221A>T (p.Tyr74Phe) c.386A>T (p.Tyr129Phe) c.239A>T (p.Tyr80Phe) c.347A>T (p.Tyr116Phe) c.257A>T (p.Tyr86Phe) | |
11 | g.8090200C>A | CA379563077 | TUB | c.222C>A (p.Tyr74Ter) c.387C>A (p.Tyr129Ter) c.240C>A (p.Tyr80Ter) c.348C>A (p.Tyr116Ter) c.258C>A (p.Tyr86Ter) | |
11 | g.8090200C>G | CA379563079 | TUB | c.222C>G (p.Tyr74Ter) c.387C>G (p.Tyr129Ter) c.240C>G (p.Tyr80Ter) c.348C>G (p.Tyr116Ter) c.258C>G (p.Tyr86Ter) | |
11 | g.8090200C>T | CA473009118 | TUB | c.222C>T (p.Tyr74=) c.387C>T (p.Tyr129=) c.240C>T (p.Tyr80=) c.348C>T (p.Tyr116=) c.258C>T (p.Tyr86=) | COSMIC |
11 | g.8090201C>A | CA379563082 | TUB | c.223C>A (p.Leu75Ile) c.388C>A (p.Leu130Ile) c.241C>A (p.Leu81Ile) c.349C>A (p.Leu117Ile) c.259C>A (p.Leu87Ile) | |
11 | g.8090201C= | CA1950953573 | TUB | c.223C= (p.Leu75=) c.388C= (p.Leu130=) c.241C= (p.Leu81=) c.349C= (p.Leu117=) c.259C= (p.Leu87=) | |
11 | g.8090201C>G | CA379563084 | TUB | c.223C>G (p.Leu75Val) c.388C>G (p.Leu130Val) c.241C>G (p.Leu81Val) c.349C>G (p.Leu117Val) c.259C>G (p.Leu87Val) | |
11 | g.8090201C>T | CA217415675 | TUB | c.223C>T (p.Leu75Phe) c.388C>T (p.Leu130Phe) c.241C>T (p.Leu81Phe) c.349C>T (p.Leu117Phe) c.259C>T (p.Leu87Phe) | dbSNP |
11 | g.8090202T>A | CA379563087 | TUB | c.224T>A (p.Leu75His) c.389T>A (p.Leu130His) c.242T>A (p.Leu81His) c.350T>A (p.Leu117His) c.260T>A (p.Leu87His) | |
11 | g.8090202T>C | CA379563090 | TUB | c.224T>C (p.Leu75Pro) c.389T>C (p.Leu130Pro) c.242T>C (p.Leu81Pro) c.350T>C (p.Leu117Pro) c.260T>C (p.Leu87Pro) | |
11 | g.8090202T>G | CA379563091 | TUB | c.224T>G (p.Leu75Arg) c.389T>G (p.Leu130Arg) c.242T>G (p.Leu81Arg) c.350T>G (p.Leu117Arg) c.260T>G (p.Leu87Arg) | |
11 | g.8090203C>A | CA473009119 | TUB | c.225C>A (p.Leu75=) c.390C>A (p.Leu130=) c.243C>A (p.Leu81=) c.351C>A (p.Leu117=) c.261C>A (p.Leu87=) | |
11 | g.8090203C= | CA1950953576 | TUB | c.225C= (p.Leu75=) c.390C= (p.Leu130=) c.243C= (p.Leu81=) c.351C= (p.Leu117=) c.261C= (p.Leu87=) | |
11 | g.8090203C>G | CA473009120 | TUB | c.225C>G (p.Leu75=) c.390C>G (p.Leu130=) c.243C>G (p.Leu81=) c.351C>G (p.Leu117=) c.261C>G (p.Leu87=) | |
11 | g.8090203C>T | CA5871000 | TUB | c.225C>T (p.Leu75=) c.390C>T (p.Leu130=) c.243C>T (p.Leu81=) c.351C>T (p.Leu117=) c.261C>T (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090204A>C | CA379563096 | TUB | c.226A>C (p.Ser76Arg) c.391A>C (p.Ser131Arg) c.244A>C (p.Ser82Arg) c.352A>C (p.Ser118Arg) c.262A>C (p.Ser88Arg) | |
11 | g.8090204A>G | CA379563099 | TUB | c.226A>G (p.Ser76Gly) c.391A>G (p.Ser131Gly) c.244A>G (p.Ser82Gly) c.352A>G (p.Ser118Gly) c.262A>G (p.Ser88Gly) | gnomAD v4 |
11 | g.8090204A>T | CA379563097 | TUB | c.226A>T (p.Ser76Cys) c.391A>T (p.Ser131Cys) c.244A>T (p.Ser82Cys) c.352A>T (p.Ser118Cys) c.262A>T (p.Ser88Cys) | |
11 | g.8090205G>A | CA379563101 | TUB | c.227G>A (p.Ser76Asn) c.392G>A (p.Ser131Asn) c.245G>A (p.Ser82Asn) c.353G>A (p.Ser118Asn) c.263G>A (p.Ser88Asn) | |
11 | g.8090205G>C | CA379563103 | TUB | c.227G>C (p.Ser76Thr) c.392G>C (p.Ser131Thr) c.245G>C (p.Ser82Thr) c.353G>C (p.Ser118Thr) c.263G>C (p.Ser88Thr) | |
11 | g.8090205G>T | CA379563105 | TUB | c.227G>T (p.Ser76Ile) c.392G>T (p.Ser131Ile) c.245G>T (p.Ser82Ile) c.353G>T (p.Ser118Ile) c.263G>T (p.Ser88Ile) | |
11 | g.8090206C>A | CA379563107 | TUB | c.228C>A (p.Ser76Arg) c.393C>A (p.Ser131Arg) c.246C>A (p.Ser82Arg) c.354C>A (p.Ser118Arg) c.264C>A (p.Ser88Arg) | |
11 | g.8090206C>G | CA379563108 | TUB | c.228C>G (p.Ser76Arg) c.393C>G (p.Ser131Arg) c.246C>G (p.Ser82Arg) c.354C>G (p.Ser118Arg) c.264C>G (p.Ser88Arg) | |
11 | g.8090206C>T | CA473009121 | TUB | c.228C>T (p.Ser76=) c.393C>T (p.Ser131=) c.246C>T (p.Ser82=) c.354C>T (p.Ser118=) c.264C>T (p.Ser88=) | dbSNP |
11 | g.8090207A= | CA1950953579 | TUB | c.229A= (p.Ser77=) c.394A= (p.Ser132=) c.247A= (p.Ser83=) c.355A= (p.Ser119=) c.265A= (p.Ser89=) | |
11 | g.8090207A>C | CA5871001 | TUB | c.229A>C (p.Ser77Arg) c.394A>C (p.Ser132Arg) c.247A>C (p.Ser83Arg) c.355A>C (p.Ser119Arg) c.265A>C (p.Ser89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090207A>G | CA379563111 | TUB | c.229A>G (p.Ser77Gly) c.394A>G (p.Ser132Gly) c.247A>G (p.Ser83Gly) c.355A>G (p.Ser119Gly) c.265A>G (p.Ser89Gly) | |
11 | g.8090207A>T | CA379563112 | TUB | c.229A>T (p.Ser77Cys) c.394A>T (p.Ser132Cys) c.247A>T (p.Ser83Cys) c.355A>T (p.Ser119Cys) c.265A>T (p.Ser89Cys) | |
11 | g.8090208G>A | CA379563115 | TUB | c.230G>A (p.Ser77Asn) c.395G>A (p.Ser132Asn) c.248G>A (p.Ser83Asn) c.356G>A (p.Ser119Asn) c.266G>A (p.Ser89Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090208G>C | CA379563116 | TUB | c.230G>C (p.Ser77Thr) c.395G>C (p.Ser132Thr) c.248G>C (p.Ser83Thr) c.356G>C (p.Ser119Thr) c.266G>C (p.Ser89Thr) | gnomAD v4 |
11 | g.8090208G= | CA1950953582 | TUB | c.230G= (p.Ser77=) c.395G= (p.Ser132=) c.248G= (p.Ser83=) c.356G= (p.Ser119=) c.266G= (p.Ser89=) | |
11 | g.8090208G>T | CA5871002 | TUB | c.230G>T (p.Ser77Ile) c.395G>T (p.Ser132Ile) c.248G>T (p.Ser83Ile) c.356G>T (p.Ser119Ile) c.266G>T (p.Ser89Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090209C>A | CA379563123 | TUB | c.231C>A (p.Ser77Arg) c.396C>A (p.Ser132Arg) c.249C>A (p.Ser83Arg) c.357C>A (p.Ser119Arg) c.267C>A (p.Ser89Arg) | |
11 | g.8090209C>G | CA379563121 | TUB | c.231C>G (p.Ser77Arg) c.396C>G (p.Ser132Arg) c.249C>G (p.Ser83Arg) c.357C>G (p.Ser119Arg) c.267C>G (p.Ser89Arg) | |
11 | g.8090209C>T | CA473009122 | TUB | c.231C>T (p.Ser77=) c.396C>T (p.Ser132=) c.249C>T (p.Ser83=) c.357C>T (p.Ser119=) c.267C>T (p.Ser89=) | gnomAD v4 |
11 | g.8090210A= | CA1950953584 | TUB | c.232A= (p.Ser78=) c.397A= (p.Ser133=) c.250A= (p.Ser84=) c.358A= (p.Ser120=) c.268A= (p.Ser90=) | |
11 | g.8090210A>C | CA379563125 | TUB | c.232A>C (p.Ser78Arg) c.397A>C (p.Ser133Arg) c.250A>C (p.Ser84Arg) c.358A>C (p.Ser120Arg) c.268A>C (p.Ser90Arg) | dbSNP gnomAD v4 |
11 | g.8090210A>G | CA379563127 | TUB | c.232A>G (p.Ser78Gly) c.397A>G (p.Ser133Gly) c.250A>G (p.Ser84Gly) c.358A>G (p.Ser120Gly) c.268A>G (p.Ser90Gly) | |
11 | g.8090210A>T | CA379563129 | TUB | c.232A>T (p.Ser78Cys) c.397A>T (p.Ser133Cys) c.250A>T (p.Ser84Cys) c.358A>T (p.Ser120Cys) c.268A>T (p.Ser90Cys) | |
11 | g.8090211G>A | CA379563131 | TUB | c.233G>A (p.Ser78Asn) c.398G>A (p.Ser133Asn) c.251G>A (p.Ser84Asn) c.359G>A (p.Ser120Asn) c.269G>A (p.Ser90Asn) | dbSNP |
11 | g.8090211G>C | CA379563133 | TUB | c.233G>C (p.Ser78Thr) c.398G>C (p.Ser133Thr) c.251G>C (p.Ser84Thr) c.359G>C (p.Ser120Thr) c.269G>C (p.Ser90Thr) | |
11 | g.8090211G= | CA1950953586 | TUB | c.233G= (p.Ser78=) c.398G= (p.Ser133=) c.251G= (p.Ser84=) c.359G= (p.Ser120=) c.269G= (p.Ser90=) | |
11 | g.8090211G>T | CA379563135 | TUB | c.233G>T (p.Ser78Ile) c.398G>T (p.Ser133Ile) c.251G>T (p.Ser84Ile) c.359G>T (p.Ser120Ile) c.269G>T (p.Ser90Ile) | |
11 | g.8090212T>A | CA379563137 | TUB | c.234T>A (p.Ser78Arg) c.399T>A (p.Ser133Arg) c.252T>A (p.Ser84Arg) c.360T>A (p.Ser120Arg) c.270T>A (p.Ser90Arg) | |
11 | g.8090212T>C | CA473009123 | TUB | c.234T>C (p.Ser78=) c.399T>C (p.Ser133=) c.252T>C (p.Ser84=) c.360T>C (p.Ser120=) c.270T>C (p.Ser90=) | gnomAD v4 |
11 | g.8090212T>G | CA379563139 | TUB | c.234T>G (p.Ser78Arg) c.399T>G (p.Ser133Arg) c.252T>G (p.Ser84Arg) c.360T>G (p.Ser120Arg) c.270T>G (p.Ser90Arg) | |
11 | g.8090213G>A | CA379563140 | TUB | c.235G>A (p.Gly79Ser) c.400G>A (p.Gly134Ser) c.253G>A (p.Gly85Ser) c.361G>A (p.Gly121Ser) c.271G>A (p.Gly91Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090213G>C | CA379563141 | TUB | c.235G>C (p.Gly79Arg) c.400G>C (p.Gly134Arg) c.253G>C (p.Gly85Arg) c.361G>C (p.Gly121Arg) c.271G>C (p.Gly91Arg) | |
11 | g.8090213G= | CA1950953589 | TUB | c.235G= (p.Gly79=) c.400G= (p.Gly134=) c.253G= (p.Gly85=) c.361G= (p.Gly121=) c.271G= (p.Gly91=) | |
11 | g.8090213G>T | CA379563144 | TUB | c.235G>T (p.Gly79Cys) c.400G>T (p.Gly134Cys) c.253G>T (p.Gly85Cys) c.361G>T (p.Gly121Cys) c.271G>T (p.Gly91Cys) | |
11 | g.8090214G>A | CA379563145 | TUB | c.236G>A (p.Gly79Asp) c.401G>A (p.Gly134Asp) c.254G>A (p.Gly85Asp) c.362G>A (p.Gly121Asp) c.272G>A (p.Gly91Asp) | |
11 | g.8090214G>C | CA379563148 | TUB | c.236G>C (p.Gly79Ala) c.401G>C (p.Gly134Ala) c.254G>C (p.Gly85Ala) c.362G>C (p.Gly121Ala) c.272G>C (p.Gly91Ala) | |
11 | g.8090214G>T | CA379563151 | TUB | c.236G>T (p.Gly79Val) c.401G>T (p.Gly134Val) c.254G>T (p.Gly85Val) c.362G>T (p.Gly121Val) c.272G>T (p.Gly91Val) | |
11 | g.8090215C>A | CA473009124 | TUB | c.237C>A (p.Gly79=) c.402C>A (p.Gly134=) c.255C>A (p.Gly85=) c.363C>A (p.Gly121=) c.273C>A (p.Gly91=) | |
11 | g.8090215C>G | CA473009125 | TUB | c.237C>G (p.Gly79=) c.402C>G (p.Gly134=) c.255C>G (p.Gly85=) c.363C>G (p.Gly121=) c.273C>G (p.Gly91=) | |
11 | g.8090215C>T | CA473009126 | TUB | c.237C>T (p.Gly79=) c.402C>T (p.Gly134=) c.255C>T (p.Gly85=) c.363C>T (p.Gly121=) c.273C>T (p.Gly91=) | |
11 | g.8090216A= | CA1950953591 | TUB | c.238A= (p.Ser80=) c.403A= (p.Ser135=) c.256A= (p.Ser86=) c.364A= (p.Ser122=) c.274A= (p.Ser92=) | |
11 | g.8090216A>C | CA379563158 | TUB | c.238A>C (p.Ser80Arg) c.403A>C (p.Ser135Arg) c.256A>C (p.Ser86Arg) c.364A>C (p.Ser122Arg) c.274A>C (p.Ser92Arg) | |
11 | g.8090216A>G | CA379563156 | TUB | c.238A>G (p.Ser80Gly) c.403A>G (p.Ser135Gly) c.256A>G (p.Ser86Gly) c.364A>G (p.Ser122Gly) c.274A>G (p.Ser92Gly) | |
11 | g.8090216A>T | CA379563154 | TUB | c.238A>T (p.Ser80Cys) c.403A>T (p.Ser135Cys) c.256A>T (p.Ser86Cys) c.364A>T (p.Ser122Cys) c.274A>T (p.Ser92Cys) | |
11 | g.8090217G>A | CA379563160 | TUB | c.239G>A (p.Ser80Asn) c.404G>A (p.Ser135Asn) c.257G>A (p.Ser86Asn) c.365G>A (p.Ser122Asn) c.275G>A (p.Ser92Asn) | |
11 | g.8090217G>C | CA379563161 | TUB | c.239G>C (p.Ser80Thr) c.404G>C (p.Ser135Thr) c.257G>C (p.Ser86Thr) c.365G>C (p.Ser122Thr) c.275G>C (p.Ser92Thr) | |
11 | g.8090217G>T | CA379563164 | TUB | c.239G>T (p.Ser80Ile) c.404G>T (p.Ser135Ile) c.257G>T (p.Ser86Ile) c.365G>T (p.Ser122Ile) c.275G>T (p.Ser92Ile) | |
11 | g.8090219_8090267dup | CA934888266 | TUB | c.241_253+36dup c.406_418+36dup c.259_271+36dup c.367_379+36dup c.277_289+36dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090218C>A | CA379563167 | TUB | c.240C>A (p.Ser80Arg) c.405C>A (p.Ser135Arg) c.258C>A (p.Ser86Arg) c.366C>A (p.Ser122Arg) c.276C>A (p.Ser92Arg) | |
11 | g.8090218C= | CA1950953596 | TUB | c.240C= (p.Ser80=) c.405C= (p.Ser135=) c.258C= (p.Ser86=) c.366C= (p.Ser122=) c.276C= (p.Ser92=) | |
11 | g.8090218C>G | CA379563168 | TUB | c.240C>G (p.Ser80Arg) c.405C>G (p.Ser135Arg) c.258C>G (p.Ser86Arg) c.366C>G (p.Ser122Arg) c.276C>G (p.Ser92Arg) | dbSNP gnomAD v4 |
11 | g.8090218C>T | CA473009127 | TUB | c.240C>T (p.Ser80=) c.405C>T (p.Ser135=) c.258C>T (p.Ser86=) c.366C>T (p.Ser122=) c.276C>T (p.Ser92=) | dbSNP |
11 | g.8090219A>C | CA379563170 | TUB | c.241A>C (p.Thr81Pro) c.406A>C (p.Thr136Pro) c.259A>C (p.Thr87Pro) c.367A>C (p.Thr123Pro) c.277A>C (p.Thr93Pro) | |
11 | g.8090219A>G | CA379563172 | TUB | c.241A>G (p.Thr81Ala) c.406A>G (p.Thr136Ala) c.259A>G (p.Thr87Ala) c.367A>G (p.Thr123Ala) c.277A>G (p.Thr93Ala) | |
11 | g.8090219A>T | CA379563175 | TUB | c.241A>T (p.Thr81Ser) c.406A>T (p.Thr136Ser) c.259A>T (p.Thr87Ser) c.367A>T (p.Thr123Ser) c.277A>T (p.Thr93Ser) | |
11 | g.8090220C>A | CA379563176 | TUB | c.242C>A (p.Thr81Asn) c.407C>A (p.Thr136Asn) c.260C>A (p.Thr87Asn) c.368C>A (p.Thr123Asn) c.278C>A (p.Thr93Asn) | |
11 | g.8090220C= | CA1950953598 | TUB | c.242C= (p.Thr81=) c.407C= (p.Thr136=) c.260C= (p.Thr87=) c.368C= (p.Thr123=) c.278C= (p.Thr93=) | |
11 | g.8090220C>G | CA5871003 | TUB | c.242C>G (p.Thr81Ser) c.407C>G (p.Thr136Ser) c.260C>G (p.Thr87Ser) c.368C>G (p.Thr123Ser) c.278C>G (p.Thr93Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090220C>T | CA379563178 | TUB | c.242C>T (p.Thr81Ile) c.407C>T (p.Thr136Ile) c.260C>T (p.Thr87Ile) c.368C>T (p.Thr123Ile) c.278C>T (p.Thr93Ile) | gnomAD v4 |
11 | g.8090221C>A | CA473009128 | TUB | c.243C>A (p.Thr81=) c.408C>A (p.Thr136=) c.261C>A (p.Thr87=) c.369C>A (p.Thr123=) c.279C>A (p.Thr93=) | |
11 | g.8090221C>G | CA473009129 | TUB | c.243C>G (p.Thr81=) c.408C>G (p.Thr136=) c.261C>G (p.Thr87=) c.369C>G (p.Thr123=) c.279C>G (p.Thr93=) | |
11 | g.8090221C>T | CA473009130 | TUB | c.243C>T (p.Thr81=) c.408C>T (p.Thr136=) c.261C>T (p.Thr87=) c.369C>T (p.Thr123=) c.279C>T (p.Thr93=) | |
11 | g.8090222A>C | CA379563180 | TUB | c.244A>C (p.Ser82Arg) c.409A>C (p.Ser137Arg) c.262A>C (p.Ser88Arg) c.370A>C (p.Ser124Arg) c.280A>C (p.Ser94Arg) | |
11 | g.8090222A>G | CA379563181 | TUB | c.244A>G (p.Ser82Gly) c.409A>G (p.Ser137Gly) c.262A>G (p.Ser88Gly) c.370A>G (p.Ser124Gly) c.280A>G (p.Ser94Gly) | |
11 | g.8090222A>T | CA379563182 | TUB | c.244A>T (p.Ser82Cys) c.409A>T (p.Ser137Cys) c.262A>T (p.Ser88Cys) c.370A>T (p.Ser124Cys) c.280A>T (p.Ser94Cys) | |
11 | g.8090223G>A | CA379563185 | TUB | c.245G>A (p.Ser82Asn) c.410G>A (p.Ser137Asn) c.263G>A (p.Ser88Asn) c.371G>A (p.Ser124Asn) c.281G>A (p.Ser94Asn) | |
11 | g.8090223G>C | CA379563190 | TUB | c.245G>C (p.Ser82Thr) c.410G>C (p.Ser137Thr) c.263G>C (p.Ser88Thr) c.371G>C (p.Ser124Thr) c.281G>C (p.Ser94Thr) | |
11 | g.8090223G>T | CA379563183 | TUB | c.245G>T (p.Ser82Ile) c.410G>T (p.Ser137Ile) c.263G>T (p.Ser88Ile) c.371G>T (p.Ser124Ile) c.281G>T (p.Ser94Ile) | |
11 | g.8090224C>A | CA379563192 | TUB | c.246C>A (p.Ser82Arg) c.411C>A (p.Ser137Arg) c.264C>A (p.Ser88Arg) c.372C>A (p.Ser124Arg) c.282C>A (p.Ser94Arg) | |
11 | g.8090224C>G | CA379563194 | TUB | c.246C>G (p.Ser82Arg) c.411C>G (p.Ser137Arg) c.264C>G (p.Ser88Arg) c.372C>G (p.Ser124Arg) c.282C>G (p.Ser94Arg) | |
11 | g.8090224C>T | CA473009131 | TUB | c.246C>T (p.Ser82=) c.411C>T (p.Ser137=) c.264C>T (p.Ser88=) c.372C>T (p.Ser124=) c.282C>T (p.Ser94=) | |
11 | g.8090225_8090227del | CA2612330587 | TUB | c.247_249del (p.Tyr83del) c.412_414del (p.Tyr138del) c.265_267del (p.Tyr89del) c.373_375del (p.Tyr125del) c.283_285del (p.Tyr95del) | gnomAD v4 |
11 | g.8090225T>A | CA379563196 | TUB | c.247T>A (p.Tyr83Asn) c.412T>A (p.Tyr138Asn) c.265T>A (p.Tyr89Asn) c.373T>A (p.Tyr125Asn) c.283T>A (p.Tyr95Asn) | |
11 | g.8090225T>C | CA379563198 | TUB | c.247T>C (p.Tyr83His) c.412T>C (p.Tyr138His) c.265T>C (p.Tyr89His) c.373T>C (p.Tyr125His) c.283T>C (p.Tyr95His) | gnomAD v4 |
11 | g.8090225T>G | CA379563200 | TUB | c.247T>G (p.Tyr83Asp) c.412T>G (p.Tyr138Asp) c.265T>G (p.Tyr89Asp) c.373T>G (p.Tyr125Asp) c.283T>G (p.Tyr95Asp) | |
11 | g.8090226A= | CA1950953601 | TUB | c.248A= (p.Tyr83=) c.413A= (p.Tyr138=) c.266A= (p.Tyr89=) c.374A= (p.Tyr125=) c.284A= (p.Tyr95=) | |
11 | g.8090226A>C | CA379563201 | TUB | c.248A>C (p.Tyr83Ser) c.413A>C (p.Tyr138Ser) c.266A>C (p.Tyr89Ser) c.374A>C (p.Tyr125Ser) c.284A>C (p.Tyr95Ser) | |
11 | g.8090226A>G | CA379563203 | TUB | c.248A>G (p.Tyr83Cys) c.413A>G (p.Tyr138Cys) c.266A>G (p.Tyr89Cys) c.374A>G (p.Tyr125Cys) c.284A>G (p.Tyr95Cys) | dbSNP |
11 | g.8090226A>T | CA379563204 | TUB | c.248A>T (p.Tyr83Phe) c.413A>T (p.Tyr138Phe) c.266A>T (p.Tyr89Phe) c.374A>T (p.Tyr125Phe) c.284A>T (p.Tyr95Phe) | |
11 | g.8090227C>A | CA379563207 | TUB | c.249C>A (p.Tyr83Ter) c.414C>A (p.Tyr138Ter) c.267C>A (p.Tyr89Ter) c.375C>A (p.Tyr125Ter) c.285C>A (p.Tyr95Ter) | |
11 | g.8090227C= | CA1950953604 | TUB | c.249C= (p.Tyr83=) c.414C= (p.Tyr138=) c.267C= (p.Tyr89=) c.375C= (p.Tyr125=) c.285C= (p.Tyr95=) | |
11 | g.8090227C>G | CA5871004 | TUB | c.249C>G (p.Tyr83Ter) c.414C>G (p.Tyr138Ter) c.267C>G (p.Tyr89Ter) c.375C>G (p.Tyr125Ter) c.285C>G (p.Tyr95Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090227C>T | CA473009132 | TUB | c.249C>T (p.Tyr83=) c.414C>T (p.Tyr138=) c.267C>T (p.Tyr89=) c.375C>T (p.Tyr125=) c.285C>T (p.Tyr95=) | dbSNP gnomAD v4 |
11 | g.8090228C>A | CA379563211 | TUB | c.250C>A (p.Gln84Lys) c.415C>A (p.Gln139Lys) c.268C>A (p.Gln90Lys) c.376C>A (p.Gln126Lys) c.286C>A (p.Gln96Lys) | gnomAD v4 |
11 | g.8090228C= | CA1950953607 | TUB | c.250C= (p.Gln84=) c.415C= (p.Gln139=) c.268C= (p.Gln90=) c.376C= (p.Gln126=) c.286C= (p.Gln96=) | |
11 | g.8090228C>G | CA217415716 | TUB | c.250C>G (p.Gln84Glu) c.415C>G (p.Gln139Glu) c.268C>G (p.Gln90Glu) c.376C>G (p.Gln126Glu) c.286C>G (p.Gln96Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090228C>T | CA379563214 | TUB | c.250C>T (p.Gln84Ter) c.415C>T (p.Gln139Ter) c.268C>T (p.Gln90Ter) c.376C>T (p.Gln126Ter) c.286C>T (p.Gln96Ter) | |
11 | g.8090229A>C | CA379563222 | TUB | c.251A>C (p.Gln84Pro) c.416A>C (p.Gln139Pro) c.269A>C (p.Gln90Pro) c.377A>C (p.Gln126Pro) c.287A>C (p.Gln96Pro) | |
11 | g.8090229A>G | CA379563219 | TUB | c.251A>G (p.Gln84Arg) c.416A>G (p.Gln139Arg) c.269A>G (p.Gln90Arg) c.377A>G (p.Gln126Arg) c.287A>G (p.Gln96Arg) | gnomAD v4 |
11 | g.8090229A>T | CA379563220 | TUB | c.251A>T (p.Gln84Leu) c.416A>T (p.Gln139Leu) c.269A>T (p.Gln90Leu) c.377A>T (p.Gln126Leu) c.287A>T (p.Gln96Leu) | |
11 | g.8090230A>C | CA379563224 | TUB | c.252A>C (p.Gln84His) c.417A>C (p.Gln139His) c.270A>C (p.Gln90His) c.378A>C (p.Gln126His) c.288A>C (p.Gln96His) | gnomAD v4 |
11 | g.8090230A>G | CA473009133 | TUB | c.252A>G (p.Gln84=) c.417A>G (p.Gln139=) c.270A>G (p.Gln90=) c.378A>G (p.Gln126=) c.288A>G (p.Gln96=) | gnomAD v4 |
11 | g.8090230A>T | CA379563226 | TUB | c.252A>T (p.Gln84His) c.417A>T (p.Gln139His) c.270A>T (p.Gln90His) c.378A>T (p.Gln126His) c.288A>T (p.Gln96His) | |
11 | g.8090230_8090237del | CA2790351915 | TUB | c.252_253+6del c.417_418+6del c.270_271+6del c.378_379+6del c.288_289+6del | |
11 | g.8090231G>A | CA379563228 | TUB | c.253G>A (p.Val85Ile) c.418G>A (p.Val140Ile) c.271G>A (p.Val91Ile) c.379G>A (p.Val127Ile) c.289G>A (p.Val97Ile) | |
11 | g.8090231G>C | CA217415721 | TUB | c.253G>C (p.Val85Leu) c.418G>C (p.Val140Leu) c.271G>C (p.Val91Leu) c.379G>C (p.Val127Leu) c.289G>C (p.Val97Leu) | dbSNP |
11 | g.8090231G= | CA1950953612 | TUB | c.253G= (p.Val85=) c.418G= (p.Val140=) c.271G= (p.Val91=) c.379G= (p.Val127=) c.289G= (p.Val97=) | |
11 | g.8090231G>T | CA379563231 | TUB | c.253G>T (p.Val85Phe) c.418G>T (p.Val140Phe) c.271G>T (p.Val91Phe) c.379G>T (p.Val127Phe) c.289G>T (p.Val97Phe) | |
11 | g.8090232G>A | CA379563234 | TUB | c.253+1G>A (n.253+1G>A) c.418+1G>A (n.418+1G>A) c.271+1G>A (n.271+1G>A) c.379+1G>A (n.379+1G>A) c.289+1G>A (n.289+1G>A) | |
11 | g.8090232G>C | CA379563236 | TUB | c.253+1G>C (n.253+1G>C) c.418+1G>C (n.418+1G>C) c.271+1G>C (n.271+1G>C) c.379+1G>C (n.379+1G>C) c.289+1G>C (n.289+1G>C) | |
11 | g.8090232G>T | CA379563238 | TUB | c.253+1G>T (n.253+1G>T) c.418+1G>T (n.418+1G>T) c.271+1G>T (n.271+1G>T) c.379+1G>T (n.379+1G>T) c.289+1G>T (n.289+1G>T) | |
11 | g.8090233T>A | CA379563242 | TUB | c.253+2T>A (n.253+2T>A) c.418+2T>A (n.418+2T>A) c.271+2T>A (n.271+2T>A) c.379+2T>A (n.379+2T>A) c.289+2T>A (n.289+2T>A) | |
11 | g.8090233T>C | CA379563244 | TUB | c.253+2T>C (n.253+2T>C) c.418+2T>C (n.418+2T>C) c.271+2T>C (n.271+2T>C) c.379+2T>C (n.379+2T>C) c.289+2T>C (n.289+2T>C) | |
11 | g.8090233T>G | CA379563246 | TUB | c.253+2T>G (n.253+2T>G) c.418+2T>G (n.418+2T>G) c.271+2T>G (n.271+2T>G) c.379+2T>G (n.379+2T>G) c.289+2T>G (n.289+2T>G) | dbSNP |
11 | g.8090233T= | CA1950953614 | TUB | c.253+2T= (n.253+2T=) c.418+2T= (n.418+2T=) c.271+2T= (n.271+2T=) c.379+2T= (n.379+2T=) c.289+2T= (n.289+2T=) | |
11 | g.8090235T>G | CA2612330588 | TUB | c.253+4T>G (n.253+4T>G) c.418+4T>G (n.418+4T>G) c.271+4T>G (n.271+4T>G) c.379+4T>G (n.379+4T>G) c.289+4T>G (n.289+4T>G) | gnomAD v4 |
11 | g.8090236A= | CA1950953617 | TUB | c.253+5A= (n.253+5A=) c.418+5A= (n.418+5A=) c.271+5A= (n.271+5A=) c.379+5A= (n.379+5A=) c.289+5A= (n.289+5A=) | |
11 | g.8090236A>G | CA5871005 | TUB | c.253+5A>G (n.253+5A>G) c.418+5A>G (n.418+5A>G) c.271+5A>G (n.271+5A>G) c.379+5A>G (n.379+5A>G) c.289+5A>G (n.289+5A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090236_8090237delinsAC | CA1950953616 | TUB | c.253+5_253+6delinsAC (n.253+5_253+6delinsAC) c.418+5_418+6delinsAC (n.418+5_418+6delinsAC) c.271+5_271+6delinsAC (n.271+5_271+6delinsAC) c.379+5_379+6delinsAC (n.379+5_379+6delinsAC) c.289+5_289+6delinsAC (n.289+5_289+6delinsAC) | |
11 | g.8090237C>A | CA2612330589 | TUB | c.253+6C>A (n.253+6C>A) c.418+6C>A (n.418+6C>A) c.271+6C>A (n.271+6C>A) c.379+6C>A (n.379+6C>A) c.289+6C>A (n.289+6C>A) | gnomAD v4 |
11 | g.8090238del | CA5871006 | TUB | c.253+7del (n.253+7del) c.418+7del (n.418+7del) c.271+7del (n.271+7del) c.379+7del (n.379+7del) c.289+7del (n.289+7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090238C= | CA1950953619 | TUB | c.253+7C= (n.253+7C=) c.418+7C= (n.418+7C=) c.271+7C= (n.271+7C=) c.379+7C= (n.379+7C=) c.289+7C= (n.289+7C=) | |
11 | g.8090238C>G | CA597441578 | TUB | c.253+7C>G (n.253+7C>G) c.418+7C>G (n.418+7C>G) c.271+7C>G (n.271+7C>G) c.379+7C>G (n.379+7C>G) c.289+7C>G (n.289+7C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090239T>C | CA5871007 | TUB | c.253+8T>C (n.253+8T>C) c.418+8T>C (n.418+8T>C) c.271+8T>C (n.271+8T>C) c.379+8T>C (n.379+8T>C) c.289+8T>C (n.289+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090239T>G | CA2537241145 | TUB | c.253+8T>G (n.253+8T>G) c.418+8T>G (n.418+8T>G) c.271+8T>G (n.271+8T>G) c.379+8T>G (n.379+8T>G) c.289+8T>G (n.289+8T>G) | gnomAD v4 |
11 | g.8090239T= | CA1950953622 | TUB | c.253+8T= (n.253+8T=) c.418+8T= (n.418+8T=) c.271+8T= (n.271+8T=) c.379+8T= (n.379+8T=) c.289+8T= (n.289+8T=) | |
11 | g.8090240T>A | CA2612330590 | TUB | c.253+9T>A (n.253+9T>A) c.418+9T>A (n.418+9T>A) c.271+9T>A (n.271+9T>A) c.379+9T>A (n.379+9T>A) c.289+9T>A (n.289+9T>A) | gnomAD v4 |
11 | g.8090240T>C | CA2790351916 | TUB | c.253+9T>C (n.253+9T>C) c.418+9T>C (n.418+9T>C) c.271+9T>C (n.271+9T>C) c.379+9T>C (n.379+9T>C) c.289+9T>C (n.289+9T>C) | |
11 | g.8090240T>G | CA2790351917 | TUB | c.253+9T>G (n.253+9T>G) c.418+9T>G (n.418+9T>G) c.271+9T>G (n.271+9T>G) c.379+9T>G (n.379+9T>G) c.289+9T>G (n.289+9T>G) | |
11 | g.8090241G>A | CA1950953625 | TUB | c.253+10G>A (n.253+10G>A) c.418+10G>A (n.418+10G>A) c.271+10G>A (n.271+10G>A) c.379+10G>A (n.379+10G>A) c.289+10G>A (n.289+10G>A) | dbSNP |
11 | g.8090241G= | CA1950953624 | TUB | c.253+10G= (n.253+10G=) c.418+10G= (n.418+10G=) c.271+10G= (n.271+10G=) c.379+10G= (n.379+10G=) c.289+10G= (n.289+10G=) | |
11 | g.8090242C>T | CA2790351918 | TUB | c.253+11C>T (n.253+11C>T) c.418+11C>T (n.418+11C>T) c.271+11C>T (n.271+11C>T) c.379+11C>T (n.379+11C>T) c.289+11C>T (n.289+11C>T) | |
11 | g.8090243C= | CA1950953627 | TUB | c.253+12C= (n.253+12C=) c.418+12C= (n.418+12C=) c.271+12C= (n.271+12C=) c.379+12C= (n.379+12C=) c.289+12C= (n.289+12C=) | |
11 | g.8090243C>G | CA5871008 | TUB | c.253+12C>G (n.253+12C>G) c.418+12C>G (n.418+12C>G) c.271+12C>G (n.271+12C>G) c.379+12C>G (n.379+12C>G) c.289+12C>G (n.289+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090243C>T | CA2573147218 | TUB | c.253+12C>T (n.253+12C>T) c.418+12C>T (n.418+12C>T) c.271+12C>T (n.271+12C>T) c.379+12C>T (n.379+12C>T) c.289+12C>T (n.289+12C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.8090246C>A | CA2612330591 | TUB | c.253+15C>A (n.253+15C>A) c.418+15C>A (n.418+15C>A) c.271+15C>A (n.271+15C>A) c.379+15C>A (n.379+15C>A) c.289+15C>A (n.289+15C>A) | gnomAD v4 |
11 | g.8090247T>A | CA2790351919 | TUB | c.253+16T>A (n.253+16T>A) c.418+16T>A (n.418+16T>A) c.271+16T>A (n.271+16T>A) c.379+16T>A (n.379+16T>A) c.289+16T>A (n.289+16T>A) | |
11 | g.8090248G= | CA1950953634 | TUB | c.253+17G= (n.253+17G=) c.418+17G= (n.418+17G=) c.271+17G= (n.271+17G=) c.379+17G= (n.379+17G=) c.289+17G= (n.289+17G=) | |
11 | g.8090248G>T | CA653949616 | TUB | c.253+17G>T (n.253+17G>T) c.418+17G>T (n.418+17G>T) c.271+17G>T (n.271+17G>T) c.379+17G>T (n.379+17G>T) c.289+17G>T (n.289+17G>T) | COSMIC |
11 | g.8090249C= | CA1950953636 | TUB | c.253+18C= (n.253+18C=) c.418+18C= (n.418+18C=) c.271+18C= (n.271+18C=) c.379+18C= (n.379+18C=) c.289+18C= (n.289+18C=) | |
11 | g.8090249C>T | CA597441579 | TUB | c.253+18C>T (n.253+18C>T) c.418+18C>T (n.418+18C>T) c.271+18C>T (n.271+18C>T) c.379+18C>T (n.379+18C>T) c.289+18C>T (n.289+18C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090252dup | CA5871009 | TUB | c.253+21dup (n.253+21dup) c.418+21dup (n.418+21dup) c.271+21dup (n.271+21dup) c.379+21dup (n.379+21dup) c.289+21dup (n.289+21dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090250C= | CA1950953638 | TUB | c.253+19C= (n.253+19C=) c.418+19C= (n.418+19C=) c.271+19C= (n.271+19C=) c.379+19C= (n.379+19C=) c.289+19C= (n.289+19C=) | |
11 | g.8090250C>T | CA5871010 | TUB | c.253+19C>T (n.253+19C>T) c.418+19C>T (n.418+19C>T) c.271+19C>T (n.271+19C>T) c.379+19C>T (n.379+19C>T) c.289+19C>T (n.289+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090252C>G | CA2612330592 | TUB | c.253+21C>G (n.253+21C>G) c.418+21C>G (n.418+21C>G) c.271+21C>G (n.271+21C>G) c.379+21C>G (n.379+21C>G) c.289+21C>G (n.289+21C>G) | gnomAD v4 |
11 | g.8090253A>G | CA2612330593 | TUB | c.253+22A>G (n.253+22A>G) c.418+22A>G (n.418+22A>G) c.271+22A>G (n.271+22A>G) c.379+22A>G (n.379+22A>G) c.289+22A>G (n.289+22A>G) | gnomAD v4 |
11 | g.8090254C>A | CA2612330594 | TUB | c.253+23C>A (n.253+23C>A) c.418+23C>A (n.418+23C>A) c.271+23C>A (n.271+23C>A) c.379+23C>A (n.379+23C>A) c.289+23C>A (n.289+23C>A) | gnomAD v4 |
11 | g.8090254C= | CA1950953640 | TUB | c.253+23C= (n.253+23C=) c.418+23C= (n.418+23C=) c.271+23C= (n.271+23C=) c.379+23C= (n.379+23C=) c.289+23C= (n.289+23C=) | |
11 | g.8090254C>T | CA597441580 | TUB | c.253+23C>T (n.253+23C>T) c.418+23C>T (n.418+23C>T) c.271+23C>T (n.271+23C>T) c.379+23C>T (n.379+23C>T) c.289+23C>T (n.289+23C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090256T>C | CA597441581 | TUB | c.253+25T>C (n.253+25T>C) c.418+25T>C (n.418+25T>C) c.271+25T>C (n.271+25T>C) c.379+25T>C (n.379+25T>C) c.289+25T>C (n.289+25T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090256T= | CA1950953643 | TUB | c.253+25T= (n.253+25T=) c.418+25T= (n.418+25T=) c.271+25T= (n.271+25T=) c.379+25T= (n.379+25T=) c.289+25T= (n.289+25T=) | |
11 | g.8090266_8090285dup | CA2612330595 | TUB | c.253+35_253+54dup (n.253+35_253+54dup) c.418+35_418+54dup (n.418+35_418+54dup) c.271+35_271+54dup (n.271+35_271+54dup) c.379+35_379+54dup (n.379+35_379+54dup) c.289+35_289+54dup (n.289+35_289+54dup) | gnomAD v4 |
11 | g.8090258_8090259insACAA | CA2790351920 | TUB | c.253+27_253+28insACAA (n.253+27_253+28insACAA) c.418+27_418+28insACAA (n.418+27_418+28insACAA) c.271+27_271+28insACAA (n.271+27_271+28insACAA) c.379+27_379+28insACAA (n.379+27_379+28insACAA) c.289+27_289+28insACAA (n.289+27_289+28insACAA) | |
11 | g.8090259C= | CA1950953646 | TUB | c.253+28C= (n.253+28C=) c.418+28C= (n.418+28C=) c.271+28C= (n.271+28C=) c.379+28C= (n.379+28C=) c.289+28C= (n.289+28C=) | |
11 | g.8090259C>G | CA2723069221 | TUB | c.253+28C>G (n.253+28C>G) c.418+28C>G (n.418+28C>G) c.271+28C>G (n.271+28C>G) c.379+28C>G (n.379+28C>G) c.289+28C>G (n.289+28C>G) | dbSNP |
11 | g.8090259C>T | CA5871011 | TUB | c.253+28C>T (n.253+28C>T) c.418+28C>T (n.418+28C>T) c.271+28C>T (n.271+28C>T) c.379+28C>T (n.379+28C>T) c.289+28C>T (n.289+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090260G>A | CA5871012 | TUB | c.253+29G>A (n.253+29G>A) c.418+29G>A (n.418+29G>A) c.271+29G>A (n.271+29G>A) c.379+29G>A (n.379+29G>A) c.289+29G>A (n.289+29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090260G= | CA1950953648 | TUB | c.253+29G= (n.253+29G=) c.418+29G= (n.418+29G=) c.271+29G= (n.271+29G=) c.379+29G= (n.379+29G=) c.289+29G= (n.289+29G=) |