Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29495667G>A | CA499309132 | TAOK1 | c.939G>A (p.Lys313=) n.787G>A | gnomAD v4 |
17 | g.29495667G>C | CA399193832 | TAOK1 | c.939G>C (p.Lys313Asn) n.787G>C | |
17 | g.29495667G>T | CA399193835 | TAOK1 | c.939G>T (p.Lys313Asn) n.787G>T | COSMIC |
17 | g.29495668A>C | CA399193837 | TAOK1 | c.940A>C (p.Lys314Gln) n.788A>C | |
17 | g.29495668A>G | CA399193839 | TAOK1 | c.940A>G (p.Lys314Glu) n.788A>G | |
17 | g.29495668A>T | CA399193841 | TAOK1 | c.940A>T (p.Lys314Ter) n.788A>T | |
17 | g.29495669A>C | CA399193844 | TAOK1 | c.941A>C (p.Lys314Thr) n.789A>C | |
17 | g.29495669A>G | CA399193846 | TAOK1 | c.941A>G (p.Lys314Arg) n.789A>G | |
17 | g.29495669A>T | CA399193848 | TAOK1 | c.941A>T (p.Lys314Ile) n.789A>T | |
17 | g.29495669_29495678delinsTGTG | CA2695225860 | TAOK1 | c.941_950delinsTGTG (p.Lys314_Phe317delinsMetCys) n.789_798delinsTGTG | |
17 | g.29495670A>C | CA399193850 | TAOK1 | c.942A>C (p.Lys314Asn) n.790A>C | |
17 | g.29495670A>G | CA499309141 | TAOK1 | c.942A>G (p.Lys314=) n.790A>G | |
17 | g.29495670A>T | CA399193851 | TAOK1 | c.942A>T (p.Lys314Asn) n.790A>T | |
17 | g.29495671C>A | CA399193852 | TAOK1 | c.943C>A (p.Leu315Ile) n.791C>A | |
17 | g.29495671C>G | CA399193854 | TAOK1 | c.943C>G (p.Leu315Val) n.791C>G | |
17 | g.29495671C>T | CA399193856 | TAOK1 | c.943C>T (p.Leu315Phe) n.791C>T | |
17 | g.29495672T>A | CA399193858 | TAOK1 | c.944T>A (p.Leu315His) n.792T>A | |
17 | g.29495672T>C | CA399193862 | TAOK1 | c.944T>C (p.Leu315Pro) n.792T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495672T>G | CA399193860 | TAOK1 | c.944T>G (p.Leu315Arg) n.792T>G | |
17 | g.29495672T= | CA2254790979 | TAOK1 | c.944T= (p.Leu315=) n.792T= | |
17 | g.29495673C>A | CA499309148 | TAOK1 | c.945C>A (p.Leu315=) n.793C>A | |
17 | g.29495673C= | CA2254790980 | TAOK1 | c.945C= (p.Leu315=) n.793C= | |
17 | g.29495673C>G | CA8474562 | TAOK1 | c.945C>G (p.Leu315=) n.793C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495673C>T | CA499309151 | TAOK1 | c.945C>T (p.Leu315=) n.793C>T | gnomAD v4 COSMIC |
17 | g.29495674C>A | CA399193865 | TAOK1 | c.946C>A (p.Leu316Ile) n.794C>A | |
17 | g.29495674C= | CA2254790981 | TAOK1 | c.946C= (p.Leu316=) n.794C= | |
17 | g.29495674C>G | CA289645003 | TAOK1 | c.946C>G (p.Leu316Val) n.794C>G | dbSNP |
17 | g.29495674C>T | CA399193868 | TAOK1 | c.946C>T (p.Leu316Phe) n.794C>T | |
17 | g.29495675T>A | CA399193870 | TAOK1 | c.947T>A (p.Leu316His) n.795T>A | |
17 | g.29495675T>C | CA399193873 | TAOK1 | c.947T>C (p.Leu316Pro) n.795T>C | |
17 | g.29495675T>G | CA399193875 | TAOK1 | c.947T>G (p.Leu316Arg) n.795T>G | |
17 | g.29495678del | CA2636951720 | TAOK1 | c.950del (p.Phe317SerfsTer10) n.798del | gnomAD v4 |
17 | g.29495676T>A | CA499309158 | TAOK1 | c.948T>A (p.Leu316=) n.796T>A | |
17 | g.29495676T>C | CA499309159 | TAOK1 | c.948T>C (p.Leu316=) n.796T>C | |
17 | g.29495676T>G | CA499309161 | TAOK1 | c.948T>G (p.Leu316=) n.796T>G | |
17 | g.29495677T>A | CA399193878 | TAOK1 | c.949T>A (p.Phe317Ile) n.797T>A | |
17 | g.29495677T>C | CA399193879 | TAOK1 | c.949T>C (p.Phe317Leu) n.797T>C | |
17 | g.29495677T>G | CA399193881 | TAOK1 | c.949T>G (p.Phe317Val) n.797T>G | |
17 | g.29495678T>A | CA399193883 | TAOK1 | c.950T>A (p.Phe317Tyr) n.798T>A | |
17 | g.29495678T>C | CA399193885 | TAOK1 | c.950T>C (p.Phe317Ser) n.798T>C | |
17 | g.29495678T>G | CA399193888 | TAOK1 | c.950T>G (p.Phe317Cys) n.798T>G | |
17 | g.29495679C>A | CA399193891 | TAOK1 | c.951C>A (p.Phe317Leu) n.799C>A | |
17 | g.29495679C>G | CA399193890 | TAOK1 | c.951C>G (p.Phe317Leu) n.799C>G | gnomAD v4 |
17 | g.29495679C>T | CA499309169 | TAOK1 | c.951C>T (p.Phe317=) n.799C>T | COSMIC |
17 | g.29495680C>A | CA399193895 | TAOK1 | c.952C>A (p.Gln318Lys) n.800C>A | |
17 | g.29495680C>G | CA399193898 | TAOK1 | c.952C>G (p.Gln318Glu) n.800C>G | |
17 | g.29495680C>T | CA399193900 | TAOK1 | c.952C>T (p.Gln318Ter) n.800C>T | COSMIC |
17 | g.29495681A>C | CA399193904 | TAOK1 | c.953A>C (p.Gln318Pro) n.801A>C | |
17 | g.29495681A>G | CA399193906 | TAOK1 | c.953A>G (p.Gln318Arg) n.801A>G | |
17 | g.29495681A>T | CA399193908 | TAOK1 | c.953A>T (p.Gln318Leu) n.801A>T | |
17 | g.29495682G>A | CA8474563 | TAOK1 | c.954G>A (p.Gln318=) n.802G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495682G>C | CA399193911 | TAOK1 | c.954G>C (p.Gln318His) n.802G>C | |
17 | g.29495682G= | CA2254790982 | TAOK1 | c.954G= (p.Gln318=) n.802G= | |
17 | g.29495682G>T | CA399193913 | TAOK1 | c.954G>T (p.Gln318His) n.802G>T | |
17 | g.29495683G>A | CA399193916 | TAOK1 | c.955G>A (p.Glu319Lys) n.803G>A | |
17 | g.29495683G>C | CA399193919 | TAOK1 | c.955G>C (p.Glu319Gln) n.803G>C | |
17 | g.29495683G>T | CA399193921 | TAOK1 | c.955G>T (p.Glu319Ter) n.803G>T | |
17 | g.29495684A>C | CA399193924 | TAOK1 | c.956A>C (p.Glu319Ala) n.804A>C | |
17 | g.29495684A>G | CA399193927 | TAOK1 | c.956A>G (p.Glu319Gly) n.804A>G | |
17 | g.29495684A>T | CA399193925 | TAOK1 | c.956A>T (p.Glu319Val) n.804A>T | |
17 | g.29495685G>A | CA499309184 | TAOK1 | c.957G>A (p.Glu319=) n.805G>A | gnomAD v4 |
17 | g.29495685G>C | CA399193930 | TAOK1 | c.957G>C (p.Glu319Asp) n.805G>C | |
17 | g.29495685G>T | CA399193932 | TAOK1 | c.957G>T (p.Glu319Asp) n.805G>T | |
17 | g.29495686G>A | CA8474564 | TAOK1 | c.958G>A (p.Ala320Thr) n.806G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495686G>C | CA399193938 | TAOK1 | c.958G>C (p.Ala320Pro) n.806G>C | |
17 | g.29495686G= | CA2254790983 | TAOK1 | c.958G= (p.Ala320=) n.806G= | |
17 | g.29495686G>T | CA399193936 | TAOK1 | c.958G>T (p.Ala320Ser) n.806G>T | |
17 | g.29495687C>A | CA399193940 | TAOK1 | c.959C>A (p.Ala320Glu) n.807C>A | gnomAD v4 |
17 | g.29495687C= | CA2254790984 | TAOK1 | c.959C= (p.Ala320=) n.807C= | |
17 | g.29495687C>G | CA399193942 | TAOK1 | c.959C>G (p.Ala320Gly) n.807C>G | |
17 | g.29495687C>T | CA8474565 | TAOK1 | c.959C>T (p.Ala320Val) n.807C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29495688A>C | CA499309193 | TAOK1 | c.960A>C (p.Ala320=) n.808A>C | |
17 | g.29495688A>G | CA499309194 | TAOK1 | c.960A>G (p.Ala320=) n.808A>G | |
17 | g.29495688A>T | CA499309195 | TAOK1 | c.960A>T (p.Ala320=) n.808A>T | |
17 | g.29495689C>A | CA399193945 | TAOK1 | c.961C>A (p.His321Asn) n.809C>A | |
17 | g.29495689C>G | CA399193947 | TAOK1 | c.961C>G (p.His321Asp) n.809C>G | |
17 | g.29495689C>T | CA399193949 | TAOK1 | c.961C>T (p.His321Tyr) n.809C>T | |
17 | g.29495690A= | CA2254790985 | TAOK1 | c.962A= (p.His321=) n.810A= | |
17 | g.29495690A>C | CA399193958 | TAOK1 | c.962A>C (p.His321Pro) n.810A>C | |
17 | g.29495690A>G | CA399193952 | TAOK1 | c.962A>G (p.His321Arg) n.810A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495690A>T | CA399193955 | TAOK1 | c.962A>T (p.His321Leu) n.810A>T | |
17 | g.29495691T>A | CA399193960 | TAOK1 | c.963T>A (p.His321Gln) n.811T>A | |
17 | g.29495691T>C | CA499309202 | TAOK1 | c.963T>C (p.His321=) n.811T>C | |
17 | g.29495691T>G | CA399193962 | TAOK1 | c.963T>G (p.His321Gln) n.811T>G | |
17 | g.29495692A>C | CA399193964 | TAOK1 | c.964A>C (p.Asn322His) n.812A>C | |
17 | g.29495692A>G | CA399193966 | TAOK1 | c.964A>G (p.Asn322Asp) n.812A>G | gnomAD v4 |
17 | g.29495692A>T | CA399193968 | TAOK1 | c.964A>T (p.Asn322Tyr) n.812A>T | |
17 | g.29495693A>C | CA399193971 | TAOK1 | c.965A>C (p.Asn322Thr) n.813A>C | |
17 | g.29495693A>G | CA399193974 | TAOK1 | c.965A>G (p.Asn322Ser) n.813A>G | |
17 | g.29495693A>T | CA399193973 | TAOK1 | c.965A>T (p.Asn322Ile) n.813A>T | |
17 | g.29495694T>A | CA399193976 | TAOK1 | c.966T>A (p.Asn322Lys) n.814T>A | |
17 | g.29495694T>C | CA499309210 | TAOK1 | c.966T>C (p.Asn322=) n.814T>C | |
17 | g.29495694T>G | CA399193986 | TAOK1 | c.966T>G (p.Asn322Lys) n.814T>G | |
17 | g.29495695G>A | CA399193987 | TAOK1 | c.967G>A (p.Gly323Arg) n.815G>A | |
17 | g.29495695G>C | CA399193988 | TAOK1 | c.967G>C (p.Gly323Arg) n.815G>C | |
17 | g.29495695G>T | CA399193990 | TAOK1 | c.967G>T (p.Gly323Ter) n.815G>T | |
17 | g.29495696G>A | CA399193992 | TAOK1 | c.968G>A (p.Gly323Glu) n.816G>A | |
17 | g.29495696G>C | CA399193994 | TAOK1 | c.968G>C (p.Gly323Ala) n.816G>C | |
17 | g.29495696G>T | CA399193996 | TAOK1 | c.968G>T (p.Gly323Val) n.816G>T | |
17 | g.29495696_29495697delinsGA | CA2254790986 | TAOK1 | c.968_969delinsGA (p.Gly323=) n.816_817delinsGA | |
17 | g.29495697del | CA727862456 | TAOK1 | c.969del (p.Pro324GlnfsTer3) n.817del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29495697A>C | CA499309218 | TAOK1 | c.969A>C (p.Gly323=) n.817A>C | |
17 | g.29495697A>G | CA499309220 | TAOK1 | c.969A>G (p.Gly323=) n.817A>G | |
17 | g.29495697A>T | CA499309221 | TAOK1 | c.969A>T (p.Gly323=) n.817A>T | |
17 | g.29495698C>A | CA399193999 | TAOK1 | c.970C>A (p.Pro324Thr) n.818C>A | gnomAD v4 |
17 | g.29495698C= | CA2254790987 | TAOK1 | c.970C= (p.Pro324=) n.818C= | |
17 | g.29495698C>G | CA399194000 | TAOK1 | c.970C>G (p.Pro324Ala) n.818C>G | |
17 | g.29495698C>T | CA399194002 | TAOK1 | c.970C>T (p.Pro324Ser) n.818C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495699C>A | CA399194006 | TAOK1 | c.971C>A (p.Pro324Gln) n.819C>A | |
17 | g.29495699C>G | CA399194010 | TAOK1 | c.971C>G (p.Pro324Arg) n.819C>G | gnomAD v4 |
17 | g.29495699C>T | CA399194008 | TAOK1 | c.971C>T (p.Pro324Leu) n.819C>T | |
17 | g.29495700A= | CA2254790988 | TAOK1 | c.972A= (p.Pro324=) n.820A= | |
17 | g.29495700A>C | CA289645004 | TAOK1 | c.972A>C (p.Pro324=) n.820A>C | dbSNP |
17 | g.29495700A>G | CA499309229 | TAOK1 | c.972A>G (p.Pro324=) n.820A>G | |
17 | g.29495700A>T | CA499309231 | TAOK1 | c.972A>T (p.Pro324=) n.820A>T | |
17 | g.29495701G>A | CA399194012 | TAOK1 | c.973G>A (p.Ala325Thr) n.821G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29495701G>C | CA399194014 | TAOK1 | c.973G>C (p.Ala325Pro) n.821G>C | |
17 | g.29495701G= | CA2254790989 | TAOK1 | c.973G= (p.Ala325=) n.821G= | |
17 | g.29495701G>T | CA399194015 | TAOK1 | c.973G>T (p.Ala325Ser) n.821G>T | |
17 | g.29495702C>A | CA399194016 | TAOK1 | c.974C>A (p.Ala325Glu) n.822C>A | |
17 | g.29495702C>G | CA399194018 | TAOK1 | c.974C>G (p.Ala325Gly) n.822C>G | |
17 | g.29495702C>T | CA399194019 | TAOK1 | c.974C>T (p.Ala325Val) n.822C>T | gnomAD v4 |
17 | g.29495703A>C | CA499309236 | TAOK1 | c.975A>C (p.Ala325=) n.823A>C | |
17 | g.29495703A>G | CA499309237 | TAOK1 | c.975A>G (p.Ala325=) n.823A>G | |
17 | g.29495703A>T | CA499309239 | TAOK1 | c.975A>T (p.Ala325=) n.823A>T | |
17 | g.29495704G>A | CA399194020 | TAOK1 | c.976G>A (p.Val326Ile) n.824G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495704G>C | CA399194021 | TAOK1 | c.976G>C (p.Val326Leu) n.824G>C | |
17 | g.29495704G= | CA2254790990 | TAOK1 | c.976G= (p.Val326=) n.824G= | |
17 | g.29495704G>T | CA399194022 | TAOK1 | c.976G>T (p.Val326Leu) n.824G>T | |
17 | g.29495705T>A | CA399194024 | TAOK1 | c.977T>A (p.Val326Glu) n.825T>A | |
17 | g.29495705T>C | CA399194025 | TAOK1 | c.977T>C (p.Val326Ala) n.825T>C | |
17 | g.29495705T>G | CA399194028 | TAOK1 | c.977T>G (p.Val326Gly) n.825T>G | |
17 | g.29495706A>C | CA499309250 | TAOK1 | c.978A>C (p.Val326=) n.826A>C | |
17 | g.29495706A>G | CA499309249 | TAOK1 | c.978A>G (p.Val326=) n.826A>G | |
17 | g.29495706A>T | CA499309247 | TAOK1 | c.978A>T (p.Val326=) n.826A>T | |
17 | g.29495707G>A | CA399194030 | TAOK1 | c.979G>A (p.Glu327Lys) n.827G>A | |
17 | g.29495707G>C | CA399194034 | TAOK1 | c.979G>C (p.Glu327Gln) n.827G>C | |
17 | g.29495707G>T | CA399194032 | TAOK1 | c.979G>T (p.Glu327Ter) n.827G>T | |
17 | g.29495708A>C | CA399194036 | TAOK1 | c.980A>C (p.Glu327Ala) n.828A>C | |
17 | g.29495708A>G | CA399194038 | TAOK1 | c.980A>G (p.Glu327Gly) n.828A>G | |
17 | g.29495708A>T | CA399194040 | TAOK1 | c.980A>T (p.Glu327Val) n.828A>T | |
17 | g.29495708_29495711delinsAAGC | CA2254790991 | TAOK1 | c.980_983delinsAAGC (p.Glu327=) n.828_831delinsAAGC | |
17 | g.29495709A= | CA2254790992 | TAOK1 | c.981A= (p.Glu327=) n.829A= | |
17 | g.29495709A>C | CA399194042 | TAOK1 | c.981A>C (p.Glu327Asp) n.829A>C | gnomAD v4 |
17 | g.29495709A>G | CA499309260 | TAOK1 | c.981A>G (p.Glu327=) n.829A>G | dbSNP |
17 | g.29495709A>T | CA399194044 | TAOK1 | c.981A>T (p.Glu327Asp) n.829A>T | |
17 | g.29495710_29495712del | CA8474566 | TAOK1 | c.982_984del (p.Ala328del) n.830_832del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495710G>A | CA399194049 | TAOK1 | c.982G>A (p.Ala328Thr) n.830G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495710G>C | CA289645005 | TAOK1 | c.982G>C (p.Ala328Pro) n.830G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29495710G= | CA2254790993 | TAOK1 | c.982G= (p.Ala328=) n.830G= | |
17 | g.29495710G>T | CA399194052 | TAOK1 | c.982G>T (p.Ala328Ser) n.830G>T | |
17 | g.29495711C>A | CA399194057 | TAOK1 | c.983C>A (p.Ala328Glu) n.831C>A | gnomAD v4 COSMIC |
17 | g.29495711C>G | CA399194059 | TAOK1 | c.983C>G (p.Ala328Gly) n.831C>G | |
17 | g.29495711C>T | CA399194055 | TAOK1 | c.983C>T (p.Ala328Val) n.831C>T | |
17 | g.29495712A>C | CA499309267 | TAOK1 | c.984A>C (p.Ala328=) n.832A>C | |
17 | g.29495712A>G | CA499309272 | TAOK1 | c.984A>G (p.Ala328=) n.832A>G | |
17 | g.29495712A>T | CA499309270 | TAOK1 | c.984A>T (p.Ala328=) n.832A>T | |
17 | g.29495713C>A | CA399194065 | TAOK1 | c.985C>A (p.Gln329Lys) n.833C>A | |
17 | g.29495713C>G | CA399194061 | TAOK1 | c.985C>G (p.Gln329Glu) n.833C>G | |
17 | g.29495713C>T | CA399194062 | TAOK1 | c.985C>T (p.Gln329Ter) n.833C>T | |
17 | g.29495714A>C | CA399194067 | TAOK1 | c.986A>C (p.Gln329Pro) n.834A>C | gnomAD v4 |
17 | g.29495714A>G | CA399194069 | TAOK1 | c.986A>G (p.Gln329Arg) n.834A>G | gnomAD v4 |
17 | g.29495714A>T | CA399194071 | TAOK1 | c.986A>T (p.Gln329Leu) n.834A>T | |
17 | g.29495715G>A | CA499309279 | TAOK1 | c.987G>A (p.Gln329=) n.835G>A | gnomAD v4 |
17 | g.29495715G>C | CA399194073 | TAOK1 | c.987G>C (p.Gln329His) n.835G>C | |
17 | g.29495715G= | CA2254790994 | TAOK1 | c.987G= (p.Gln329=) n.835G= | |
17 | g.29495715G>T | CA399194075 | TAOK1 | c.987G>T (p.Gln329His) n.835G>T | |
17 | g.29495716G>A | CA399194077 | TAOK1 | c.988G>A (p.Glu330Lys) n.836G>A | |
17 | g.29495716G>C | CA399194078 | TAOK1 | c.988G>C (p.Glu330Gln) n.836G>C | |
17 | g.29495716G>T | CA399194079 | TAOK1 | c.988G>T (p.Glu330Ter) n.836G>T | |
17 | g.29495724_29495726dup | CA625670148 | TAOK1 | c.996_998dup (p.Glu333_Glu334insGlu) n.844_846dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495724_29495726del | CA625670147 | TAOK1 | c.996_998del (p.Glu333del) n.844_846del | gnomAD v2 gnomAD v4 |
17 | g.29495717A= | CA2254790995 | TAOK1 | c.989A= (p.Glu330=) n.837A= | |
17 | g.29495717A>C | CA399194083 | TAOK1 | c.989A>C (p.Glu330Ala) n.837A>C | |
17 | g.29495717A>G | CA399194084 | TAOK1 | c.989A>G (p.Glu330Gly) n.837A>G | |
17 | g.29495717A>T | CA399194087 | TAOK1 | c.989A>T (p.Glu330Val) n.837A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495718A= | CA2254790996 | TAOK1 | c.990A= (p.Glu330=) n.838A= | |
17 | g.29495718A>C | CA399194089 | TAOK1 | c.990A>C (p.Glu330Asp) n.838A>C | |
17 | g.29495718A>G | CA499309288 | TAOK1 | c.990A>G (p.Glu330=) n.838A>G | dbSNP |
17 | g.29495718A>T | CA399194091 | TAOK1 | c.990A>T (p.Glu330Asp) n.838A>T | |
17 | g.29495718_29495719insAGGG | CA2840929483 | TAOK1 | c.990_991insAGGG (p.Glu331ArgfsTer17) n.838_839insAGGG | |
17 | g.29495719G>A | CA399194094 | TAOK1 | c.991G>A (p.Glu331Lys) n.839G>A | gnomAD v4 |
17 | g.29495719G>C | CA399194097 | TAOK1 | c.991G>C (p.Glu331Gln) n.839G>C | |
17 | g.29495719G>T | CA399194098 | TAOK1 | c.991G>T (p.Glu331Ter) n.839G>T | |
17 | g.29495720A>C | CA399194102 | TAOK1 | c.992A>C (p.Glu331Ala) n.840A>C | |
17 | g.29495720A>G | CA399194103 | TAOK1 | c.992A>G (p.Glu331Gly) n.840A>G | |
17 | g.29495720A>T | CA399194105 | TAOK1 | c.992A>T (p.Glu331Val) n.840A>T | |
17 | g.29495721A>C | CA399194107 | TAOK1 | c.993A>C (p.Glu331Asp) n.841A>C | |
17 | g.29495721A>G | CA499309296 | TAOK1 | c.993A>G (p.Glu331=) n.841A>G | gnomAD v4 |
17 | g.29495721A>T | CA399194109 | TAOK1 | c.993A>T (p.Glu331Asp) n.841A>T | |
17 | g.29495722G>A | CA399194111 | TAOK1 | c.994G>A (p.Glu332Lys) n.842G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495722G>C | CA399194113 | TAOK1 | c.994G>C (p.Glu332Gln) n.842G>C | dbSNP |
17 | g.29495722G= | CA2254790997 | TAOK1 | c.994G= (p.Glu332=) n.842G= | |
17 | g.29495722G>T | CA399194115 | TAOK1 | c.994G>T (p.Glu332Ter) n.842G>T | |
17 | g.29495723A= | CA2254790998 | TAOK1 | c.995A= (p.Glu332=) n.843A= | |
17 | g.29495723A>C | CA399194120 | TAOK1 | c.995A>C (p.Glu332Ala) n.843A>C | |
17 | g.29495723A>G | CA399194121 | TAOK1 | c.995A>G (p.Glu332Gly) n.843A>G | |
17 | g.29495723A>T | CA399194118 | TAOK1 | c.995A>T (p.Glu332Val) n.843A>T | |
17 | g.29495724A>C | CA399194123 | TAOK1 | c.996A>C (p.Glu332Asp) n.844A>C | |
17 | g.29495724A>G | CA499309303 | TAOK1 | c.996A>G (p.Glu332=) n.844A>G | |
17 | g.29495724A>T | CA399194125 | TAOK1 | c.996A>T (p.Glu332Asp) n.844A>T | |
17 | g.29495724_29495725insATATGTGCTA | CA919822467 | TAOK1 | c.996_997insATATGTGCTA (p.Glu333IlefsTer17) n.844_845insATATGTGCTA | dbSNP |
17 | g.29495725G>A | CA399194127 | TAOK1 | c.997G>A (p.Glu333Lys) n.845G>A | |
17 | g.29495725G>C | CA399194129 | TAOK1 | c.997G>C (p.Glu333Gln) n.845G>C | |
17 | g.29495725G= | CA2254790999 | TAOK1 | c.997G= (p.Glu333=) n.845G= | |
17 | g.29495725G>T | CA399194132 | TAOK1 | c.997G>T (p.Glu333Ter) n.845G>T | dbSNP gnomAD v2 |
17 | g.29495726A>C | CA399194135 | TAOK1 | c.998A>C (p.Glu333Ala) n.846A>C | |
17 | g.29495726A>G | CA399194137 | TAOK1 | c.998A>G (p.Glu333Gly) n.846A>G | |
17 | g.29495726A>T | CA399194138 | TAOK1 | c.998A>T (p.Glu333Val) n.846A>T | |
17 | g.29495727G>A | CA499309312 | TAOK1 | c.999G>A (p.Glu333=) n.847G>A | gnomAD v4 |
17 | g.29495727G>C | CA399194140 | TAOK1 | c.999G>C (p.Glu333Asp) n.847G>C | |
17 | g.29495727G>T | CA399194142 | TAOK1 | c.999G>T (p.Glu333Asp) n.847G>T | gnomAD v4 COSMIC |
17 | g.29495728dup | CA2695225861 | TAOK1 | c.999+1dup n.847+1dup | |
17 | g.29495728G>A | CA399194145 | TAOK1 | c.999+1G>A (n.999+1G>A) n.847+1G>A | gnomAD v4 |
17 | g.29495728G>C | CA399194147 | TAOK1 | c.999+1G>C (n.999+1G>C) n.847+1G>C | |
17 | g.29495728G= | CA2254791000 | TAOK1 | c.999+1G= (n.999+1G=) n.847+1G= | |
17 | g.29495728G>T | CA399194150 | TAOK1 | c.999+1G>T (n.999+1G>T) n.847+1G>T | gnomAD v4 |
17 | g.29495728_29495729insAACAAGA | CA625670149 | TAOK1 | c.999+1_999+2insAACAAGA (n.999+1_999+2insAACAAGA) n.847+1_847+2insAACAAGA | dbSNP gnomAD v2 |
17 | g.29495729T>A | CA399194153 | TAOK1 | c.999+2T>A (n.999+2T>A) n.847+2T>A | gnomAD v4 |
17 | g.29495729T>C | CA399194152 | TAOK1 | c.999+2T>C (n.999+2T>C) n.847+2T>C | |
17 | g.29495729T>G | CA399194151 | TAOK1 | c.999+2T>G (n.999+2T>G) n.847+2T>G | |
17 | g.29495729T= | CA2254791001 | TAOK1 | c.999+2T= (n.999+2T=) n.847+2T= | |
17 | g.29495729_29495730insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | CA625670150 | TAOK1 | c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG (n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG) n.847+2_847+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | dbSNP gnomAD v2 |
17 | g.29495730A>G | CA2636951721 | TAOK1 | c.999+3A>G (n.999+3A>G) n.847+3A>G | gnomAD v4 |
17 | g.29495731dup | CA8474567 | TAOK1 | c.999+4dup (n.999+4dup) n.847+4dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29495731A>C | CA2636951722 | TAOK1 | c.999+4A>C (n.999+4A>C) n.847+4A>C | gnomAD v4 |
17 | g.29495731A>G | CA2576121531 | TAOK1 | c.999+4A>G (n.999+4A>G) n.847+4A>G | gnomAD v4 |
17 | g.29495732G>A | CA8474568 | TAOK1 | c.999+5G>A (n.999+5G>A) n.847+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495732G= | CA2254791002 | TAOK1 | c.999+5G= (n.999+5G=) n.847+5G= | |
17 | g.29495734G>A | CA982834715 | TAOK1 | c.999+7G>A (n.999+7G>A) n.847+7G>A | gnomAD v3 gnomAD v4 |
17 | g.29495734G>C | CA8474569 | TAOK1 | c.999+7G>C (n.999+7G>C) n.847+7G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495734G= | CA2254791003 | TAOK1 | c.999+7G= (n.999+7G=) n.847+7G= | |
17 | g.29495736T>A | CA982834729 | TAOK1 | c.999+9T>A (n.999+9T>A) n.847+9T>A | gnomAD v3 gnomAD v4 |
17 | g.29495736T>G | CA625670151 | TAOK1 | c.999+9T>G (n.999+9T>G) n.847+9T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495736T= | CA2254791005 | TAOK1 | c.999+9T= (n.999+9T=) n.847+9T= | |
17 | g.29495736_29495739delinsTAAA | CA2254791004 | TAOK1 | c.999+9_999+12delinsTAAA (n.999+9_999+12delinsTAAA) n.847+9_847+12delinsTAAA | |
17 | g.29495736_29495737insCATGGTGTTGGCCGGACAGG | CA2636951723 | TAOK1 | c.999+9_999+10insCATGGTGTTGGCCGGACAGG (n.999+9_999+10insCATGGTGTTGGCCGGACAGG) n.847+9_847+10insCATGGTGTTGGCCGGACAGG | gnomAD v4 |
17 | g.29495737A= | CA2254791006 | TAOK1 | c.999+10A= (n.999+10A=) n.847+10A= | |
17 | g.29495737A>G | CA2254791007 | TAOK1 | c.999+10A>G (n.999+10A>G) n.847+10A>G | dbSNP gnomAD v4 |
17 | g.29495737A>T | CA8474573 | TAOK1 | c.999+10A>T (n.999+10A>T) n.847+10A>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.29495743dup | CA8474570 | TAOK1 | c.999+16dup (n.999+16dup) n.847+16dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495743del | CA8474571 | TAOK1 | c.999+16del (n.999+16del) n.847+16del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495741_29495743del | CA727862532 | TAOK1 | c.999+14_999+16del (n.999+14_999+16del) n.847+14_847+16del | dbSNP |
17 | g.29495737_29495738insGGGTAG | CA8474572 | TAOK1 | c.999+10_999+11insGGGTAG (n.999+10_999+11insGGGTAG) n.847+10_847+11insGGGTAG | dbSNP ExAC |
17 | g.29495737_29495738insGGGTAGAAGGT | CA625670152 | TAOK1 | c.999+10_999+11insGGGTAGAAGGT (n.999+10_999+11insGGGTAGAAGGT) n.847+10_847+11insGGGTAGAAGGT | dbSNP gnomAD v2 |
17 | g.29495738A= | CA2254791008 | TAOK1 | c.999+11A= (n.999+11A=) n.847+11A= | |
17 | g.29495738A>G | CA2636951724 | TAOK1 | c.999+11A>G (n.999+11A>G) n.847+11A>G | gnomAD v4 |
17 | g.29495738_29495739insCAGTT | CA2636951725 | TAOK1 | c.999+11_999+12insCAGTT (n.999+11_999+12insCAGTT) n.847+11_847+12insCAGTT | gnomAD v4 |
17 | g.29495738_29495739insTATCCTATGATAGATAATGCATGTAATCTAT | CA625670153 | TAOK1 | c.999+11_999+12insTATCCTATGATAGATAATGCATGTAATCTAT (n.999+11_999+12insTATCCTATGATAGATAATGCATGTAATCTAT) n.847+11_847+12insTATCCTATGATAGATAATGCATGTAATCTAT | dbSNP gnomAD v2 |
17 | g.29495739A= | CA2254791009 | TAOK1 | c.999+12A= (n.999+12A=) n.847+12A= | |
17 | g.29495739A>G | CA2636951726 | TAOK1 | c.999+12A>G (n.999+12A>G) n.847+12A>G | gnomAD v4 |
17 | g.29495739_29495740insTCCTATGATAG | CA625670154 | TAOK1 | c.999+12_999+13insTCCTATGATAG (n.999+12_999+13insTCCTATGATAG) n.847+12_847+13insTCCTATGATAG | dbSNP gnomAD v2 |
17 | g.29495740A>G | CA2636951727 | TAOK1 | c.999+13A>G (n.999+13A>G) n.847+13A>G | gnomAD v4 |
17 | g.29495741A= | CA2254791010 | TAOK1 | c.999+14A= (n.999+14A=) n.847+14A= | |
17 | g.29495741A>G | CA2636951728 | TAOK1 | c.999+14A>G (n.999+14A>G) n.847+14A>G | gnomAD v4 |
17 | g.29495741A>T | CA625670155 | TAOK1 | c.999+14A>T (n.999+14A>T) n.847+14A>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495743A= | CA2254791011 | TAOK1 | c.999+16A= (n.999+16A=) n.847+16A= | |
17 | g.29495743A>C | CA2636951729 | TAOK1 | c.999+16A>C (n.999+16A>C) n.847+16A>C | gnomAD v4 |
17 | g.29495743A>G | CA2636951730 | TAOK1 | c.999+16A>G (n.999+16A>G) n.847+16A>G | gnomAD v4 |
17 | g.29495743A>T | CA2254791012 | TAOK1 | c.999+16A>T (n.999+16A>T) n.847+16A>T | dbSNP |
17 | g.29495744T>A | CA2254791014 | TAOK1 | c.999+17T>A (n.999+17T>A) n.847+17T>A | dbSNP gnomAD v4 |
17 | g.29495744T>C | CA2636951731 | TAOK1 | c.999+17T>C (n.999+17T>C) n.847+17T>C | gnomAD v4 |
17 | g.29495744T= | CA2254791013 | TAOK1 | c.999+17T= (n.999+17T=) n.847+17T= | |
17 | g.29495746A= | CA2254791015 | TAOK1 | c.999+19A= (n.999+19A=) n.847+19A= | |
17 | g.29495746A>C | CA2636951732 | TAOK1 | c.999+19A>C (n.999+19A>C) n.847+19A>C | gnomAD v4 |
17 | g.29495746A>G | CA289645006 | TAOK1 | c.999+19A>G (n.999+19A>G) n.847+19A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495747C>A | CA2636951733 | TAOK1 | c.999+20C>A (n.999+20C>A) n.847+20C>A | gnomAD v4 |
17 | g.29495747C>T | CA2636951734 | TAOK1 | c.999+20C>T (n.999+20C>T) n.847+20C>T | gnomAD v4 |
17 | g.29495748T>C | CA2636951735 | TAOK1 | c.999+21T>C (n.999+21T>C) n.847+21T>C | gnomAD v4 |
17 | g.29495749C>A | CA2636951736 | TAOK1 | c.999+22C>A (n.999+22C>A) n.847+22C>A | gnomAD v4 |
17 | g.29495749C>G | CA2636951737 | TAOK1 | c.999+22C>G (n.999+22C>G) n.847+22C>G | gnomAD v4 |
17 | g.29495749C>T | CA2636951738 | TAOK1 | c.999+22C>T (n.999+22C>T) n.847+22C>T | gnomAD v4 |
17 | g.29495750del | CA2840929484 | TAOK1 | c.999+23del (n.999+23del) n.847+23del | |
17 | g.29495750C>A | CA2636951739 | TAOK1 | c.999+23C>A (n.999+23C>A) n.847+23C>A | gnomAD v4 |
17 | g.29495751A= | CA2254791016 | TAOK1 | c.999+24A= (n.999+24A=) n.847+24A= | |
17 | g.29495751A>G | CA625670156 | TAOK1 | c.999+24A>G (n.999+24A>G) n.847+24A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29495752A= | CA2254791017 | TAOK1 | c.999+25A= (n.999+25A=) n.847+25A= | |
17 | g.29495752A>G | CA2254791018 | TAOK1 | c.999+25A>G (n.999+25A>G) n.847+25A>G | dbSNP gnomAD v4 |
17 | g.29495753T>C | CA2636951740 | TAOK1 | c.999+26T>C (n.999+26T>C) n.847+26T>C | gnomAD v4 |
17 | g.29495755T>C | CA2636951741 | TAOK1 | c.999+28T>C (n.999+28T>C) n.847+28T>C | gnomAD v4 |
17 | g.29495756T>C | CA2636951742 | TAOK1 | c.999+29T>C (n.999+29T>C) n.847+29T>C | gnomAD v4 |
17 | g.29495757G>A | CA2636951743 | TAOK1 | c.999+30G>A (n.999+30G>A) n.847+30G>A | gnomAD v4 |
17 | g.29495757G>T | CA2636951744 | TAOK1 | c.999+30G>T (n.999+30G>T) n.847+30G>T | gnomAD v4 |
17 | g.29495759A= | CA2254791019 | TAOK1 | c.999+32A= (n.999+32A=) n.847+32A= | |
17 | g.29495759A>G | CA289645007 | TAOK1 | c.999+32A>G (n.999+32A>G) n.847+32A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29495759A>T | CA2576121532 | TAOK1 | c.999+32A>T (n.999+32A>T) n.847+32A>T | dbSNP gnomAD v4 |
17 | g.29495762T>C | CA2636951745 | TAOK1 | c.999+35T>C (n.999+35T>C) n.847+35T>C | gnomAD v4 |
17 | g.29495763T>C | CA2636951746 | TAOK1 | c.999+36T>C (n.999+36T>C) n.847+36T>C | gnomAD v4 |
17 | g.29495763T>G | CA2576121533 | TAOK1 | c.999+36T>G (n.999+36T>G) n.847+36T>G | |
17 | g.29495764C>A | CA2636951747 | TAOK1 | c.999+37C>A (n.999+37C>A) n.847+37C>A | gnomAD v4 |
17 | g.29495765A= | CA2254791020 | TAOK1 | c.999+38A= (n.999+38A=) n.847+38A= | |
17 | g.29495765A>C | CA8474574 | TAOK1 | c.999+38A>C (n.999+38A>C) n.847+38A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29495765A>G | CA8474575 | TAOK1 | c.999+38A>G (n.999+38A>G) n.847+38A>G | dbSNP ExAC |
17 | g.29495765A>T | CA2636951748 | TAOK1 | c.999+38A>T (n.999+38A>T) n.847+38A>T | gnomAD v4 |
17 | g.29495766C>A | CA2636951749 | TAOK1 | c.999+39C>A (n.999+39C>A) n.847+39C>A | gnomAD v4 |
17 | g.29495766C= | CA2254791021 | TAOK1 | c.999+39C= (n.999+39C=) n.847+39C= | |
17 | g.29495766C>G | CA289645008 | TAOK1 | c.999+39C>G (n.999+39C>G) n.847+39C>G | dbSNP gnomAD v4 |
17 | g.29495766C>T | CA2636951750 | TAOK1 | c.999+39C>T (n.999+39C>T) n.847+39C>T | gnomAD v4 |
17 | g.29495767T>C | CA8474576 | TAOK1 | c.999+40T>C (n.999+40T>C) n.847+40T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29495767T= | CA2254791022 | TAOK1 | c.999+40T= (n.999+40T=) n.847+40T= | |
17 | g.29495770del | CA2636951751 | TAOK1 | c.999+43del (n.999+43del) n.847+43del | dbSNP gnomAD v4 |