Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29495651A>C | CA399193744 | TAOK1 | c.923A>C (p.Gln308Pro) n.771A>C | |
17 | g.29495651A>G | CA399193746 | TAOK1 | c.923A>G (p.Gln308Arg) n.771A>G | |
17 | g.29495651A>T | CA399193748 | TAOK1 | c.923A>T (p.Gln308Leu) n.771A>T | |
17 | g.29495652G>A | CA499309092 | TAOK1 | c.924G>A (p.Gln308=) n.772G>A | |
17 | g.29495652G>C | CA399193750 | TAOK1 | c.924G>C (p.Gln308His) n.772G>C | dbSNP |
17 | g.29495652G= | CA2254790974 | TAOK1 | c.924G= (p.Gln308=) n.772G= | |
17 | g.29495652G>T | CA399193752 | TAOK1 | c.924G>T (p.Gln308His) n.772G>T | |
17 | g.29495653T>A | CA399193755 | TAOK1 | c.925T>A (p.Tyr309Asn) n.773T>A | |
17 | g.29495653T>C | CA399193757 | TAOK1 | c.925T>C (p.Tyr309His) n.773T>C | |
17 | g.29495653T>G | CA399193754 | TAOK1 | c.925T>G (p.Tyr309Asp) n.773T>G | |
17 | g.29495654A>C | CA399193760 | TAOK1 | c.926A>C (p.Tyr309Ser) n.774A>C | |
17 | g.29495654A>G | CA399193762 | TAOK1 | c.926A>G (p.Tyr309Cys) n.774A>G | dbSNP |
17 | g.29495654A>T | CA399193764 | TAOK1 | c.926A>T (p.Tyr309Phe) n.774A>T | |
17 | g.29495655T>A | CA399193766 | TAOK1 | c.927T>A (p.Tyr309Ter) n.775T>A | |
17 | g.29495655T>C | CA499309101 | TAOK1 | c.927T>C (p.Tyr309=) n.775T>C | |
17 | g.29495655T>G | CA399193768 | TAOK1 | c.927T>G (p.Tyr309Ter) n.775T>G | |
17 | g.29495656C>A | CA499309103 | TAOK1 | c.928C>A (p.Arg310=) n.776C>A | dbSNP |
17 | g.29495656C= | CA2254790975 | TAOK1 | c.928C= (p.Arg310=) n.776C= | |
17 | g.29495656C>G | CA399193771 | TAOK1 | c.928C>G (p.Arg310Gly) n.776C>G | |
17 | g.29495656C>T | CA289645002 | TAOK1 | c.928C>T (p.Arg310Ter) n.776C>T | ClinVar dbSNP |
17 | g.29495657G>A | CA8474561 | TAOK1 | c.929G>A (p.Arg310Gln) n.777G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29495657G>C | CA399193774 | TAOK1 | c.929G>C (p.Arg310Pro) n.777G>C | |
17 | g.29495657G= | CA2254790976 | TAOK1 | c.929G= (p.Arg310=) n.777G= | |
17 | g.29495657G>T | CA399193777 | TAOK1 | c.929G>T (p.Arg310Leu) n.777G>T | |
17 | g.29495658A>C | CA499309108 | TAOK1 | c.930A>C (p.Arg310=) n.778A>C | |
17 | g.29495658A>G | CA499309109 | TAOK1 | c.930A>G (p.Arg310=) n.778A>G | |
17 | g.29495658A>T | CA499309111 | TAOK1 | c.930A>T (p.Arg310=) n.778A>T | |
17 | g.29495659A>C | CA399193780 | TAOK1 | c.931A>C (p.Lys311Gln) n.779A>C | |
17 | g.29495659A>G | CA399193782 | TAOK1 | c.931A>G (p.Lys311Glu) n.779A>G | |
17 | g.29495659A>T | CA399193784 | TAOK1 | c.931A>T (p.Lys311Ter) n.779A>T | |
17 | g.29495660A>C | CA399193790 | TAOK1 | c.932A>C (p.Lys311Thr) n.780A>C | |
17 | g.29495660A>G | CA399193788 | TAOK1 | c.932A>G (p.Lys311Arg) n.780A>G | |
17 | g.29495660A>T | CA399193786 | TAOK1 | c.932A>T (p.Lys311Met) n.780A>T | |
17 | g.29495661G>A | CA499309117 | TAOK1 | c.933G>A (p.Lys311=) n.781G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29495661G>C | CA399193792 | TAOK1 | c.933G>C (p.Lys311Asn) n.781G>C | |
17 | g.29495661G= | CA2254790977 | TAOK1 | c.933G= (p.Lys311=) n.781G= | |
17 | g.29495661G>T | CA399193794 | TAOK1 | c.933G>T (p.Lys311Asn) n.781G>T | |
17 | g.29495662A>C | CA399193797 | TAOK1 | c.934A>C (p.Met312Leu) n.782A>C | |
17 | g.29495662A>G | CA399193798 | TAOK1 | c.934A>G (p.Met312Val) n.782A>G | gnomAD v4 |
17 | g.29495662A>T | CA399193801 | TAOK1 | c.934A>T (p.Met312Leu) n.782A>T | |
17 | g.29495663T>A | CA399193810 | TAOK1 | c.935T>A (p.Met312Lys) n.783T>A | |
17 | g.29495663T>C | CA399193805 | TAOK1 | c.935T>C (p.Met312Thr) n.783T>C | |
17 | g.29495663T>G | CA399193803 | TAOK1 | c.935T>G (p.Met312Arg) n.783T>G | |
17 | g.29495664G>A | CA399193813 | TAOK1 | c.936G>A (p.Met312Ile) n.784G>A | |
17 | g.29495664G>C | CA399193815 | TAOK1 | c.936G>C (p.Met312Ile) n.784G>C | |
17 | g.29495664G>T | CA399193817 | TAOK1 | c.936G>T (p.Met312Ile) n.784G>T | |
17 | g.29495665A>C | CA399193819 | TAOK1 | c.937A>C (p.Lys313Gln) n.785A>C | |
17 | g.29495665A>G | CA399193821 | TAOK1 | c.937A>G (p.Lys313Glu) n.785A>G | |
17 | g.29495665A>T | CA399193823 | TAOK1 | c.937A>T (p.Lys313Ter) n.785A>T | |
17 | g.29495666A= | CA2254790978 | TAOK1 | c.938A= (p.Lys313=) n.786A= |