UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.29534147G>A | CA499152354 | TAOK1 | c.2391G>A (p.Glu797=) c.1947G>A (p.Glu649=) | gnomAD v4 |
| 17 | g.29534147G>C | CA398917013 | TAOK1 | c.2391G>C (p.Glu797Asp) c.1947G>C (p.Glu649Asp) | dbSNP gnomAD v2 |
| 17 | g.29534147G= | CA2254807127 | TAOK1 | c.2391G= (p.Glu797=) c.1947G= (p.Glu649=) | |
| 17 | g.29534147G>T | CA398917014 | TAOK1 | c.2391G>T (p.Glu797Asp) c.1947G>T (p.Glu649Asp) | gnomAD v4 |
| 17 | g.29534148T>A | CA398917023 | TAOK1 | c.2392T>A (p.Cys798Ser) c.1948T>A (p.Cys650Ser) | |
| 17 | g.29534148T>C | CA398917021 | TAOK1 | c.2392T>C (p.Cys798Arg) c.1948T>C (p.Cys650Arg) | |
| 17 | g.29534148T>G | CA398917018 | TAOK1 | c.2392T>G (p.Cys798Gly) c.1948T>G (p.Cys650Gly) | |
| 17 | g.29534149G>A | CA398917027 | TAOK1 | c.2393G>A (p.Cys798Tyr) c.1949G>A (p.Cys650Tyr) | dbSNP |
| 17 | g.29534149G>C | CA398917030 | TAOK1 | c.2393G>C (p.Cys798Ser) c.1949G>C (p.Cys650Ser) | |
| 17 | g.29534149G= | CA2254807130 | TAOK1 | c.2393G= (p.Cys798=) c.1949G= (p.Cys650=) | |
| 17 | g.29534149G>T | CA398917032 | TAOK1 | c.2393G>T (p.Cys798Phe) c.1949G>T (p.Cys650Phe) | |
| 17 | g.29534150C>A | CA398917035 | TAOK1 | c.2394C>A (p.Cys798Ter) c.1950C>A (p.Cys650Ter) | |
| 17 | g.29534150C= | CA2254807132 | TAOK1 | c.2394C= (p.Cys798=) c.1950C= (p.Cys650=) | |
| 17 | g.29534150C>G | CA398917036 | TAOK1 | c.2394C>G (p.Cys798Trp) c.1950C>G (p.Cys650Trp) | |
| 17 | g.29534150C>T | CA499152355 | TAOK1 | c.2394C>T (p.Cys798=) c.1950C>T (p.Cys650=) | dbSNP |
| 17 | g.29534151C>A | CA398917039 | TAOK1 | c.2395C>A (p.Gln799Lys) c.1951C>A (p.Gln651Lys) | COSMIC |
| 17 | g.29534151C>G | CA398917041 | TAOK1 | c.2395C>G (p.Gln799Glu) c.1951C>G (p.Gln651Glu) | |
| 17 | g.29534151C>T | CA398917043 | TAOK1 | c.2395C>T (p.Gln799Ter) c.1951C>T (p.Gln651Ter) | |
| 17 | g.29534152A>C | CA398917046 | TAOK1 | c.2396A>C (p.Gln799Pro) c.1952A>C (p.Gln651Pro) | |
| 17 | g.29534152A>G | CA398917049 | TAOK1 | c.2396A>G (p.Gln799Arg) c.1952A>G (p.Gln651Arg) | |
| 17 | g.29534152A>T | CA398917051 | TAOK1 | c.2396A>T (p.Gln799Leu) c.1952A>T (p.Gln651Leu) | |
| 17 | g.29534153G>A | CA499152356 | TAOK1 | c.2397G>A (p.Gln799=) c.1953G>A (p.Gln651=) | gnomAD v4 |
| 17 | g.29534153G>C | CA398917053 | TAOK1 | c.2397G>C (p.Gln799His) c.1953G>C (p.Gln651His) | ClinVar |
| 17 | g.29534153G>T | CA398917055 | TAOK1 | c.2397G>T (p.Gln799His) c.1953G>T (p.Gln651His) | |
| 17 | g.29534154G>A | CA289202049 | TAOK1 | c.2398G>A (p.Val800Ile) c.1954G>A (p.Val652Ile) | dbSNP |
| 17 | g.29534154G>C | CA398917058 | TAOK1 | c.2398G>C (p.Val800Leu) c.1954G>C (p.Val652Leu) | |
| 17 | g.29534154G= | CA2254807135 | TAOK1 | c.2398G= (p.Val800=) c.1954G= (p.Val652=) | |
| 17 | g.29534154G>T | CA398917060 | TAOK1 | c.2398G>T (p.Val800Phe) c.1954G>T (p.Val652Phe) | |
| 17 | g.29534155T>A | CA398917066 | TAOK1 | c.2399T>A (p.Val800Asp) c.1955T>A (p.Val652Asp) | |
| 17 | g.29534155T>C | CA398917068 | TAOK1 | c.2399T>C (p.Val800Ala) c.1955T>C (p.Val652Ala) | |
| 17 | g.29534155T>G | CA398917070 | TAOK1 | c.2399T>G (p.Val800Gly) c.1955T>G (p.Val652Gly) | |
| 17 | g.29534156T>A | CA499152357 | TAOK1 | c.2400T>A (p.Val800=) c.1956T>A (p.Val652=) | |
| 17 | g.29534156T>C | CA499152358 | TAOK1 | c.2400T>C (p.Val800=) c.1956T>C (p.Val652=) | |
| 17 | g.29534156T>G | CA499152359 | TAOK1 | c.2400T>G (p.Val800=) c.1956T>G (p.Val652=) | |
| 17 | g.29534157T>A | CA398917073 | TAOK1 | c.2401T>A (p.Leu801Met) c.1957T>A (p.Leu653Met) | |
| 17 | g.29534157T>C | CA499152360 | TAOK1 | c.2401T>C (p.Leu801=) c.1957T>C (p.Leu653=) | |
| 17 | g.29534157T>G | CA398917075 | TAOK1 | c.2401T>G (p.Leu801Val) c.1957T>G (p.Leu653Val) | |
| 17 | g.29534158T>A | CA398917079 | TAOK1 | c.2402T>A (p.Leu801Ter) c.1958T>A (p.Leu653Ter) | |
| 17 | g.29534158T>C | CA398917081 | TAOK1 | c.2402T>C (p.Leu801Ser) c.1958T>C (p.Leu653Ser) | |
| 17 | g.29534158T>G | CA398917084 | TAOK1 | c.2402T>G (p.Leu801Trp) c.1958T>G (p.Leu653Trp) | |
| 17 | g.29534159G>A | CA499152361 | TAOK1 | c.2403G>A (p.Leu801=) c.1959G>A (p.Leu653=) | dbSNP gnomAD v2 |
| 17 | g.29534159G>C | CA398917087 | TAOK1 | c.2403G>C (p.Leu801Phe) c.1959G>C (p.Leu653Phe) | |
| 17 | g.29534159G= | CA2254807139 | TAOK1 | c.2403G= (p.Leu801=) c.1959G= (p.Leu653=) | |
| 17 | g.29534159G>T | CA398917089 | TAOK1 | c.2403G>T (p.Leu801Phe) c.1959G>T (p.Leu653Phe) | |
| 17 | g.29534160A>C | CA398917091 | TAOK1 | c.2404A>C (p.Lys802Gln) c.1960A>C (p.Lys654Gln) | |
| 17 | g.29534160A>G | CA398917094 | TAOK1 | c.2404A>G (p.Lys802Glu) c.1960A>G (p.Lys654Glu) | |
| 17 | g.29534160A>T | CA398917096 | TAOK1 | c.2404A>T (p.Lys802Ter) c.1960A>T (p.Lys654Ter) | |
| 17 | g.29534161A>C | CA398917102 | TAOK1 | c.2405A>C (p.Lys802Thr) c.1961A>C (p.Lys654Thr) | |
| 17 | g.29534161A>G | CA398917105 | TAOK1 | c.2405A>G (p.Lys802Arg) c.1961A>G (p.Lys654Arg) | |
| 17 | g.29534161A>T | CA398917100 | TAOK1 | c.2405A>T (p.Lys802Met) c.1961A>T (p.Lys654Met) | |
| 17 | g.29534162G>A | CA499152362 | TAOK1 | c.2406G>A (p.Lys802=) c.1962G>A (p.Lys654=) | |
| 17 | g.29534162G>C | CA398917111 | TAOK1 | c.2406G>C (p.Lys802Asn) c.1962G>C (p.Lys654Asn) | |
| 17 | g.29534162G>T | CA398917110 | TAOK1 | c.2406G>T (p.Lys802Asn) c.1962G>T (p.Lys654Asn) | |
| 17 | g.29534163A>C | CA398917119 | TAOK1 | c.2407A>C (p.Met803Leu) c.1963A>C (p.Met655Leu) | |
| 17 | g.29534163A>G | CA398917115 | TAOK1 | c.2407A>G (p.Met803Val) c.1963A>G (p.Met655Val) | |
| 17 | g.29534163A>T | CA398917117 | TAOK1 | c.2407A>T (p.Met803Leu) c.1963A>T (p.Met655Leu) | |
| 17 | g.29534164T>A | CA398917122 | TAOK1 | c.2408T>A (p.Met803Lys) c.1964T>A (p.Met655Lys) | |
| 17 | g.29534164T>C | CA398917125 | TAOK1 | c.2408T>C (p.Met803Thr) c.1964T>C (p.Met655Thr) | |
| 17 | g.29534164T>G | CA398917128 | TAOK1 | c.2408T>G (p.Met803Arg) c.1964T>G (p.Met655Arg) | |
| 17 | g.29534165G>A | CA398917135 | TAOK1 | c.2409G>A (p.Met803Ile) c.1965G>A (p.Met655Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534165G>C | CA398917133 | TAOK1 | c.2409G>C (p.Met803Ile) c.1965G>C (p.Met655Ile) | |
| 17 | g.29534165G= | CA2254807142 | TAOK1 | c.2409G= (p.Met803=) c.1965G= (p.Met655=) | |
| 17 | g.29534165G>T | CA398917130 | TAOK1 | c.2409G>T (p.Met803Ile) c.1965G>T (p.Met655Ile) | |
| 17 | g.29534166C>A | CA398917138 | TAOK1 | c.2410C>A (p.Gln804Lys) c.1966C>A (p.Gln656Lys) | |
| 17 | g.29534166C>G | CA398917141 | TAOK1 | c.2410C>G (p.Gln804Glu) c.1966C>G (p.Gln656Glu) | |
| 17 | g.29534166C>T | CA398917143 | TAOK1 | c.2410C>T (p.Gln804Ter) c.1966C>T (p.Gln656Ter) | |
| 17 | g.29534167A>C | CA398917145 | TAOK1 | c.2411A>C (p.Gln804Pro) c.1967A>C (p.Gln656Pro) | |
| 17 | g.29534167A>G | CA398917147 | TAOK1 | c.2411A>G (p.Gln804Arg) c.1967A>G (p.Gln656Arg) | |
| 17 | g.29534167A>T | CA398917149 | TAOK1 | c.2411A>T (p.Gln804Leu) c.1967A>T (p.Gln656Leu) | |
| 17 | g.29534168G>A | CA8474856 | TAOK1 | c.2412G>A (p.Gln804=) c.1968G>A (p.Gln656=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29534168G>C | CA398917156 | TAOK1 | c.2412G>C (p.Gln804His) c.1968G>C (p.Gln656His) | |
| 17 | g.29534168G= | CA2254807144 | TAOK1 | c.2412G= (p.Gln804=) c.1968G= (p.Gln656=) | |
| 17 | g.29534168G>T | CA398917153 | TAOK1 | c.2412G>T (p.Gln804His) c.1968G>T (p.Gln656His) | |
| 17 | g.29534169C>A | CA398917159 | TAOK1 | c.2413C>A (p.Leu805Met) c.1969C>A (p.Leu657Met) | |
| 17 | g.29534169C>G | CA398917161 | TAOK1 | c.2413C>G (p.Leu805Val) c.1969C>G (p.Leu657Val) | |
| 17 | g.29534169C>T | CA499152364 | TAOK1 | c.2413C>T (p.Leu805=) c.1969C>T (p.Leu657=) | |
| 17 | g.29534170T>A | CA398917165 | TAOK1 | c.2414T>A (p.Leu805Gln) c.1970T>A (p.Leu657Gln) | |
| 17 | g.29534170T>C | CA398917167 | TAOK1 | c.2414T>C (p.Leu805Pro) c.1970T>C (p.Leu657Pro) | |
| 17 | g.29534170T>G | CA398917169 | TAOK1 | c.2414T>G (p.Leu805Arg) c.1970T>G (p.Leu657Arg) | |
| 17 | g.29534171G>A | CA289202060 | TAOK1 | c.2415G>A (p.Leu805=) c.1971G>A (p.Leu657=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534171G>C | CA499152365 | TAOK1 | c.2415G>C (p.Leu805=) c.1971G>C (p.Leu657=) | |
| 17 | g.29534171G= | CA2254807146 | TAOK1 | c.2415G= (p.Leu805=) c.1971G= (p.Leu657=) | |
| 17 | g.29534171G>T | CA499152366 | TAOK1 | c.2415G>T (p.Leu805=) c.1971G>T (p.Leu657=) | |
| 17 | g.29534172C>A | CA398917172 | TAOK1 | c.2416C>A (p.Gln806Lys) c.1972C>A (p.Gln658Lys) | |
| 17 | g.29534172C>G | CA398917173 | TAOK1 | c.2416C>G (p.Gln806Glu) c.1972C>G (p.Gln658Glu) | |
| 17 | g.29534172C>T | CA398917174 | TAOK1 | c.2416C>T (p.Gln806Ter) c.1972C>T (p.Gln658Ter) | |
| 17 | g.29534173A= | CA2254807149 | TAOK1 | c.2417A= (p.Gln806=) c.1973A= (p.Gln658=) | |
| 17 | g.29534173A>C | CA398917175 | TAOK1 | c.2417A>C (p.Gln806Pro) c.1973A>C (p.Gln658Pro) | |
| 17 | g.29534173A>G | CA398917176 | TAOK1 | c.2417A>G (p.Gln806Arg) c.1973A>G (p.Gln658Arg) | |
| 17 | g.29534173A>T | CA398917177 | TAOK1 | c.2417A>T (p.Gln806Leu) c.1973A>T (p.Gln658Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534174G>A | CA499152367 | TAOK1 | c.2418G>A (p.Gln806=) c.1974G>A (p.Gln658=) | |
| 17 | g.29534174G>C | CA398917178 | TAOK1 | c.2418G>C (p.Gln806His) c.1974G>C (p.Gln658His) | |
| 17 | g.29534174G>T | CA398917179 | TAOK1 | c.2418G>T (p.Gln806His) c.1974G>T (p.Gln658His) | |
| 17 | g.29534175C>A | CA398917180 | TAOK1 | c.2419C>A (p.Gln807Lys) c.1975C>A (p.Gln659Lys) | |
| 17 | g.29534175C>G | CA398917181 | TAOK1 | c.2419C>G (p.Gln807Glu) c.1975C>G (p.Gln659Glu) | gnomAD v4 |
| 17 | g.29534175C>T | CA398917182 | TAOK1 | c.2419C>T (p.Gln807Ter) c.1975C>T (p.Gln659Ter) | |
| 17 | g.29534176A>C | CA398917183 | TAOK1 | c.2420A>C (p.Gln807Pro) c.1976A>C (p.Gln659Pro) | |
| 17 | g.29534176A>G | CA398917184 | TAOK1 | c.2420A>G (p.Gln807Arg) c.1976A>G (p.Gln659Arg) | |
| 17 | g.29534176A>T | CA398917185 | TAOK1 | c.2420A>T (p.Gln807Leu) c.1976A>T (p.Gln659Leu) | |
| 17 | g.29534177G>A | CA8474857 | TAOK1 | c.2421G>A (p.Gln807=) c.1977G>A (p.Gln659=) | dbSNP ExAC gnomAD v4 |
| 17 | g.29534177G>C | CA398917186 | TAOK1 | c.2421G>C (p.Gln807His) c.1977G>C (p.Gln659His) | |
| 17 | g.29534177G= | CA2254807151 | TAOK1 | c.2421G= (p.Gln807=) c.1977G= (p.Gln659=) | |
| 17 | g.29534177G>T | CA398917187 | TAOK1 | c.2421G>T (p.Gln807His) c.1977G>T (p.Gln659His) | gnomAD v4 |
| 17 | g.29534178G>A | CA398917188 | TAOK1 | c.2422G>A (p.Glu808Lys) c.1978G>A (p.Glu660Lys) | COSMIC |
| 17 | g.29534178G>C | CA398917189 | TAOK1 | c.2422G>C (p.Glu808Gln) c.1978G>C (p.Glu660Gln) | |
| 17 | g.29534178G>T | CA398917190 | TAOK1 | c.2422G>T (p.Glu808Ter) c.1978G>T (p.Glu660Ter) | |
| 17 | g.29534179A>C | CA398917193 | TAOK1 | c.2423A>C (p.Glu808Ala) c.1979A>C (p.Glu660Ala) | |
| 17 | g.29534179A>G | CA398917192 | TAOK1 | c.2423A>G (p.Glu808Gly) c.1979A>G (p.Glu660Gly) | |
| 17 | g.29534179A>T | CA398917191 | TAOK1 | c.2423A>T (p.Glu808Val) c.1979A>T (p.Glu660Val) | |
| 17 | g.29534180A>C | CA398917194 | TAOK1 | c.2424A>C (p.Glu808Asp) c.1980A>C (p.Glu660Asp) | |
| 17 | g.29534180A>G | CA499152368 | TAOK1 | c.2424A>G (p.Glu808=) c.1980A>G (p.Glu660=) | |
| 17 | g.29534180A>T | CA398917195 | TAOK1 | c.2424A>T (p.Glu808Asp) c.1980A>T (p.Glu660Asp) | |
| 17 | g.29534181C>A | CA398917196 | TAOK1 | c.2425C>A (p.Leu809Met) c.1981C>A (p.Leu661Met) | |
| 17 | g.29534181C= | CA2254807154 | TAOK1 | c.2425C= (p.Leu809=) c.1981C= (p.Leu661=) | |
| 17 | g.29534181C>G | CA398917197 | TAOK1 | c.2425C>G (p.Leu809Val) c.1981C>G (p.Leu661Val) | |
| 17 | g.29534181C>T | CA499152369 | TAOK1 | c.2425C>T (p.Leu809=) c.1981C>T (p.Leu661=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534182T>A | CA398917198 | TAOK1 | c.2426T>A (p.Leu809Gln) c.1982T>A (p.Leu661Gln) | |
| 17 | g.29534182T>C | CA398917199 | TAOK1 | c.2426T>C (p.Leu809Pro) c.1982T>C (p.Leu661Pro) | |
| 17 | g.29534182T>G | CA398917200 | TAOK1 | c.2426T>G (p.Leu809Arg) c.1982T>G (p.Leu661Arg) | |
| 17 | g.29534183G>A | CA499152375 | TAOK1 | c.2427G>A (p.Leu809=) c.1983G>A (p.Leu661=) | |
| 17 | g.29534183G>C | CA499152374 | TAOK1 | c.2427G>C (p.Leu809=) c.1983G>C (p.Leu661=) | |
| 17 | g.29534183G>T | CA499152373 | TAOK1 | c.2427G>T (p.Leu809=) c.1983G>T (p.Leu661=) | |
| 17 | g.29534184G>A | CA398917201 | TAOK1 | c.2428G>A (p.Glu810Lys) c.1984G>A (p.Glu662Lys) | gnomAD v4 |
| 17 | g.29534184G>C | CA398917202 | TAOK1 | c.2428G>C (p.Glu810Gln) c.1984G>C (p.Glu662Gln) | |
| 17 | g.29534184G>T | CA398917203 | TAOK1 | c.2428G>T (p.Glu810Ter) c.1984G>T (p.Glu662Ter) | |
| 17 | g.29534185A>C | CA398917204 | TAOK1 | c.2429A>C (p.Glu810Ala) c.1985A>C (p.Glu662Ala) | |
| 17 | g.29534185A>G | CA398917205 | TAOK1 | c.2429A>G (p.Glu810Gly) c.1985A>G (p.Glu662Gly) | |
| 17 | g.29534185A>T | CA398917206 | TAOK1 | c.2429A>T (p.Glu810Val) c.1985A>T (p.Glu662Val) | |
| 17 | g.29534186G>A | CA499152378 | TAOK1 | c.2430G>A (p.Glu810=) c.1986G>A (p.Glu662=) | |
| 17 | g.29534186G>C | CA398917208 | TAOK1 | c.2430G>C (p.Glu810Asp) c.1986G>C (p.Glu662Asp) | |
| 17 | g.29534186G>T | CA398917207 | TAOK1 | c.2430G>T (p.Glu810Asp) c.1986G>T (p.Glu662Asp) | |
| 17 | g.29534187C>A | CA398917209 | TAOK1 | c.2431C>A (p.Leu811Met) c.1987C>A (p.Leu663Met) | |
| 17 | g.29534187C= | CA2254807157 | TAOK1 | c.2431C= (p.Leu811=) c.1987C= (p.Leu663=) | |
| 17 | g.29534187C>G | CA398917210 | TAOK1 | c.2431C>G (p.Leu811Val) c.1987C>G (p.Leu663Val) | ClinVar |
| 17 | g.29534187C>T | CA8474858 | TAOK1 | c.2431C>T (p.Leu811=) c.1987C>T (p.Leu663=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534188T>A | CA398917211 | TAOK1 | c.2432T>A (p.Leu811Gln) c.1988T>A (p.Leu663Gln) | |
| 17 | g.29534188T>C | CA398917212 | TAOK1 | c.2432T>C (p.Leu811Pro) c.1988T>C (p.Leu663Pro) | |
| 17 | g.29534188T>G | CA398917213 | TAOK1 | c.2432T>G (p.Leu811Arg) c.1988T>G (p.Leu663Arg) | |
| 17 | g.29534189G>A | CA499152379 | TAOK1 | c.2433G>A (p.Leu811=) c.1989G>A (p.Leu663=) | |
| 17 | g.29534189G>C | CA499152381 | TAOK1 | c.2433G>C (p.Leu811=) c.1989G>C (p.Leu663=) | |
| 17 | g.29534189G>T | CA499152382 | TAOK1 | c.2433G>T (p.Leu811=) c.1989G>T (p.Leu663=) | |
| 17 | g.29534190T>A | CA398917214 | TAOK1 | c.2434T>A (p.Leu812Met) c.1990T>A (p.Leu664Met) | |
| 17 | g.29534190T>C | CA499152384 | TAOK1 | c.2434T>C (p.Leu812=) c.1990T>C (p.Leu664=) | gnomAD v4 |
| 17 | g.29534190T>G | CA398917215 | TAOK1 | c.2434T>G (p.Leu812Val) c.1990T>G (p.Leu664Val) | |
| 17 | g.29534191T>A | CA398917216 | TAOK1 | c.2435T>A (p.Leu812Ter) c.1991T>A (p.Leu664Ter) | |
| 17 | g.29534191T>C | CA398917217 | TAOK1 | c.2435T>C (p.Leu812Ser) c.1991T>C (p.Leu664Ser) | |
| 17 | g.29534191T>G | CA398917218 | TAOK1 | c.2435T>G (p.Leu812Trp) c.1991T>G (p.Leu664Trp) | |
| 17 | g.29534192G>A | CA499152386 | TAOK1 | c.2436G>A (p.Leu812=) c.1992G>A (p.Leu664=) | dbSNP |
| 17 | g.29534192G>C | CA398917219 | TAOK1 | c.2436G>C (p.Leu812Phe) c.1992G>C (p.Leu664Phe) | |
| 17 | g.29534192G= | CA2254807160 | TAOK1 | c.2436G= (p.Leu812=) c.1992G= (p.Leu664=) | |
| 17 | g.29534192G>T | CA398917220 | TAOK1 | c.2436G>T (p.Leu812Phe) c.1992G>T (p.Leu664Phe) | |
| 17 | g.29534193A>C | CA398917221 | TAOK1 | c.2437A>C (p.Asn813His) c.1993A>C (p.Asn665His) | |
| 17 | g.29534193A>G | CA398917222 | TAOK1 | c.2437A>G (p.Asn813Asp) c.1993A>G (p.Asn665Asp) | |
| 17 | g.29534193A>T | CA398917223 | TAOK1 | c.2437A>T (p.Asn813Tyr) c.1993A>T (p.Asn665Tyr) | |
| 17 | g.29534194A>C | CA398917224 | TAOK1 | c.2438A>C (p.Asn813Thr) c.1994A>C (p.Asn665Thr) | |
| 17 | g.29534194A>G | CA398917226 | TAOK1 | c.2438A>G (p.Asn813Ser) c.1994A>G (p.Asn665Ser) | |
| 17 | g.29534194A>T | CA398917225 | TAOK1 | c.2438A>T (p.Asn813Ile) c.1994A>T (p.Asn665Ile) | |
| 17 | g.29534195T>A | CA398917227 | TAOK1 | c.2439T>A (p.Asn813Lys) c.1995T>A (p.Asn665Lys) | |
| 17 | g.29534195T>C | CA8474859 | TAOK1 | c.2439T>C (p.Asn813=) c.1995T>C (p.Asn665=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534195T>G | CA398917228 | TAOK1 | c.2439T>G (p.Asn813Lys) c.1995T>G (p.Asn665Lys) | |
| 17 | g.29534195T= | CA2254807164 | TAOK1 | c.2439T= (p.Asn813=) c.1995T= (p.Asn665=) | |
| 17 | g.29534196G>A | CA398917229 | TAOK1 | c.2440G>A (p.Ala814Thr) c.1996G>A (p.Ala666Thr) | |
| 17 | g.29534196G>C | CA398917230 | TAOK1 | c.2440G>C (p.Ala814Pro) c.1996G>C (p.Ala666Pro) | |
| 17 | g.29534196G>T | CA398917231 | TAOK1 | c.2440G>T (p.Ala814Ser) c.1996G>T (p.Ala666Ser) | |
| 17 | g.29534197C>A | CA398917232 | TAOK1 | c.2441C>A (p.Ala814Glu) c.1997C>A (p.Ala666Glu) | |
| 17 | g.29534197C= | CA2254807168 | TAOK1 | c.2441C= (p.Ala814=) c.1997C= (p.Ala666=) | |
| 17 | g.29534197C>G | CA398917233 | TAOK1 | c.2441C>G (p.Ala814Gly) c.1997C>G (p.Ala666Gly) | |
| 17 | g.29534197C>T | CA8474860 | TAOK1 | c.2441C>T (p.Ala814Val) c.1997C>T (p.Ala666Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29534198del | CA2695225193 | TAOK1 | c.2442del (p.Tyr815IlefsTer?) c.1998del (p.Tyr667IlefsTer?) | |
| 17 | g.29534198G>A | CA8474861 | TAOK1 | c.2442G>A (p.Ala814=) c.1998G>A (p.Ala666=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534198G>C | CA499152391 | TAOK1 | c.2442G>C (p.Ala814=) c.1998G>C (p.Ala666=) | |
| 17 | g.29534198G= | CA2254807173 | TAOK1 | c.2442G= (p.Ala814=) c.1998G= (p.Ala666=) | |
| 17 | g.29534198G>T | CA499152392 | TAOK1 | c.2442G>T (p.Ala814=) c.1998G>T (p.Ala666=) | |
| 17 | g.29534199T>A | CA398917235 | TAOK1 | c.2443T>A (p.Tyr815Asn) c.1999T>A (p.Tyr667Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534199T>C | CA398917236 | TAOK1 | c.2443T>C (p.Tyr815His) c.1999T>C (p.Tyr667His) | |
| 17 | g.29534199T>G | CA398917234 | TAOK1 | c.2443T>G (p.Tyr815Asp) c.1999T>G (p.Tyr667Asp) | |
| 17 | g.29534199T= | CA2254807176 | TAOK1 | c.2443T= (p.Tyr815=) c.1999T= (p.Tyr667=) | |
| 17 | g.29534200A>C | CA398917237 | TAOK1 | c.2444A>C (p.Tyr815Ser) c.2000A>C (p.Tyr667Ser) | |
| 17 | g.29534200A>G | CA398917238 | TAOK1 | c.2444A>G (p.Tyr815Cys) c.2000A>G (p.Tyr667Cys) | |
| 17 | g.29534200A>T | CA398917239 | TAOK1 | c.2444A>T (p.Tyr815Phe) c.2000A>T (p.Tyr667Phe) | |
| 17 | g.29534201T>A | CA398917240 | TAOK1 | c.2445T>A (p.Tyr815Ter) c.2001T>A (p.Tyr667Ter) | |
| 17 | g.29534201T>C | CA499152395 | TAOK1 | c.2445T>C (p.Tyr815=) c.2001T>C (p.Tyr667=) | |
| 17 | g.29534201T>G | CA398917241 | TAOK1 | c.2445T>G (p.Tyr815Ter) c.2001T>G (p.Tyr667Ter) | |
| 17 | g.29534202C>A | CA398917242 | TAOK1 | c.2446C>A (p.Gln816Lys) c.2002C>A (p.Gln668Lys) | |
| 17 | g.29534202C>G | CA398917243 | TAOK1 | c.2446C>G (p.Gln816Glu) c.2002C>G (p.Gln668Glu) | |
| 17 | g.29534202C>T | CA398917244 | TAOK1 | c.2446C>T (p.Gln816Ter) c.2002C>T (p.Gln668Ter) | |
| 17 | g.29534203A>C | CA398917245 | TAOK1 | c.2447A>C (p.Gln816Pro) c.2003A>C (p.Gln668Pro) | |
| 17 | g.29534203A>G | CA398917246 | TAOK1 | c.2447A>G (p.Gln816Arg) c.2003A>G (p.Gln668Arg) | |
| 17 | g.29534203A>T | CA398917247 | TAOK1 | c.2447A>T (p.Gln816Leu) c.2003A>T (p.Gln668Leu) | |
| 17 | g.29534204G>A | CA499152397 | TAOK1 | c.2448G>A (p.Gln816=) c.2004G>A (p.Gln668=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29534204G>C | CA398917248 | TAOK1 | c.2448G>C (p.Gln816His) c.2004G>C (p.Gln668His) | |
| 17 | g.29534204G= | CA2254807178 | TAOK1 | c.2448G= (p.Gln816=) c.2004G= (p.Gln668=) | |
| 17 | g.29534204G>T | CA398917249 | TAOK1 | c.2448G>T (p.Gln816His) c.2004G>T (p.Gln668His) | |
| 17 | g.29534205A>C | CA398917252 | TAOK1 | c.2449A>C (p.Ser817Arg) c.2005A>C (p.Ser669Arg) | |
| 17 | g.29534205A>G | CA398917251 | TAOK1 | c.2449A>G (p.Ser817Gly) c.2005A>G (p.Ser669Gly) | gnomAD v4 |
| 17 | g.29534205A>T | CA398917250 | TAOK1 | c.2449A>T (p.Ser817Cys) c.2005A>T (p.Ser669Cys) | |
| 17 | g.29534206G>A | CA398917253 | TAOK1 | c.2450G>A (p.Ser817Asn) c.2006G>A (p.Ser669Asn) | |
| 17 | g.29534206G>C | CA398917254 | TAOK1 | c.2450G>C (p.Ser817Thr) c.2006G>C (p.Ser669Thr) | |
| 17 | g.29534206G>T | CA398917255 | TAOK1 | c.2450G>T (p.Ser817Ile) c.2006G>T (p.Ser669Ile) | |
| 17 | g.29534207C>A | CA398917256 | TAOK1 | c.2451C>A (p.Ser817Arg) c.2007C>A (p.Ser669Arg) | |
| 17 | g.29534207C>G | CA398917257 | TAOK1 | c.2451C>G (p.Ser817Arg) c.2007C>G (p.Ser669Arg) | |
| 17 | g.29534207C>T | CA499152402 | TAOK1 | c.2451C>T (p.Ser817=) c.2007C>T (p.Ser669=) | |
| 17 | g.29534208A>C | CA398917258 | TAOK1 | c.2452A>C (p.Lys818Gln) c.2008A>C (p.Lys670Gln) | gnomAD v4 |
| 17 | g.29534208A>G | CA398917259 | TAOK1 | c.2452A>G (p.Lys818Glu) c.2008A>G (p.Lys670Glu) | |
| 17 | g.29534208A>T | CA398917260 | TAOK1 | c.2452A>T (p.Lys818Ter) c.2008A>T (p.Lys670Ter) | |
| 17 | g.29534209A>C | CA398917261 | TAOK1 | c.2453A>C (p.Lys818Thr) c.2009A>C (p.Lys670Thr) | |
| 17 | g.29534209A>G | CA398917262 | TAOK1 | c.2453A>G (p.Lys818Arg) c.2009A>G (p.Lys670Arg) | |
| 17 | g.29534209A>T | CA398917263 | TAOK1 | c.2453A>T (p.Lys818Ile) c.2009A>T (p.Lys670Ile) | |
| 17 | g.29534210A>C | CA398917264 | TAOK1 | c.2454A>C (p.Lys818Asn) c.2010A>C (p.Lys670Asn) | |
| 17 | g.29534210A>G | CA499152404 | TAOK1 | c.2454A>G (p.Lys818=) c.2010A>G (p.Lys670=) | gnomAD v4 |
| 17 | g.29534210A>T | CA398917265 | TAOK1 | c.2454A>T (p.Lys818Asn) c.2010A>T (p.Lys670Asn) | |
| 17 | g.29534211A>C | CA398917268 | TAOK1 | c.2455A>C (p.Ile819Leu) c.2011A>C (p.Ile671Leu) | |
| 17 | g.29534211A>G | CA398917267 | TAOK1 | c.2455A>G (p.Ile819Val) c.2011A>G (p.Ile671Val) | |
| 17 | g.29534211A>T | CA398917266 | TAOK1 | c.2455A>T (p.Ile819Phe) c.2011A>T (p.Ile671Phe) | |
| 17 | g.29534212T>A | CA398917269 | TAOK1 | c.2456T>A (p.Ile819Asn) c.2012T>A (p.Ile671Asn) | |
| 17 | g.29534212T>C | CA398917271 | TAOK1 | c.2456T>C (p.Ile819Thr) c.2012T>C (p.Ile671Thr) | |
| 17 | g.29534212T>G | CA398917270 | TAOK1 | c.2456T>G (p.Ile819Ser) c.2012T>G (p.Ile671Ser) | |
| 17 | g.29534213C>A | CA499152408 | TAOK1 | c.2457C>A (p.Ile819=) c.2013C>A (p.Ile671=) | |
| 17 | g.29534213C>G | CA398917272 | TAOK1 | c.2457C>G (p.Ile819Met) c.2013C>G (p.Ile671Met) | COSMIC |
| 17 | g.29534213C>T | CA499152410 | TAOK1 | c.2457C>T (p.Ile819=) c.2013C>T (p.Ile671=) | |
| 17 | g.29534214A>C | CA398917274 | TAOK1 | c.2458A>C (p.Lys820Gln) c.2014A>C (p.Lys672Gln) | |
| 17 | g.29534214A>G | CA398917273 | TAOK1 | c.2458A>G (p.Lys820Glu) c.2014A>G (p.Lys672Glu) | |
| 17 | g.29534214A>T | CA398917275 | TAOK1 | c.2458A>T (p.Lys820Ter) c.2014A>T (p.Lys672Ter) | |
| 17 | g.29534215A>C | CA398917276 | TAOK1 | c.2459A>C (p.Lys820Thr) c.2015A>C (p.Lys672Thr) | |
| 17 | g.29534215A>G | CA398917277 | TAOK1 | c.2459A>G (p.Lys820Arg) c.2015A>G (p.Lys672Arg) | |
| 17 | g.29534215A>T | CA398917278 | TAOK1 | c.2459A>T (p.Lys820Met) c.2015A>T (p.Lys672Met) | |
| 17 | g.29534216G>A | CA499152414 | TAOK1 | c.2460G>A (p.Lys820=) c.2016G>A (p.Lys672=) | |
| 17 | g.29534216G>C | CA398917279 | TAOK1 | c.2460G>C (p.Lys820Asn) c.2016G>C (p.Lys672Asn) | |
| 17 | g.29534216G>T | CA398917280 | TAOK1 | c.2460G>T (p.Lys820Asn) c.2016G>T (p.Lys672Asn) | |
| 17 | g.29534217A= | CA2254807181 | TAOK1 | c.2461A= (p.Met821=) c.2017A= (p.Met673=) | |
| 17 | g.29534217A>C | CA398917281 | TAOK1 | c.2461A>C (p.Met821Leu) c.2017A>C (p.Met673Leu) | |
| 17 | g.29534217A>G | CA8474862 | TAOK1 | c.2461A>G (p.Met821Val) c.2017A>G (p.Met673Val) | dbSNP ExAC gnomAD v2 |
| 17 | g.29534217A>T | CA398917282 | TAOK1 | c.2461A>T (p.Met821Leu) c.2017A>T (p.Met673Leu) | gnomAD v4 |
| 17 | g.29534218T>A | CA398917283 | TAOK1 | c.2462T>A (p.Met821Lys) c.2018T>A (p.Met673Lys) | |
| 17 | g.29534218T>C | CA398917284 | TAOK1 | c.2462T>C (p.Met821Thr) c.2018T>C (p.Met673Thr) | gnomAD v4 |
| 17 | g.29534218T>G | CA398917285 | TAOK1 | c.2462T>G (p.Met821Arg) c.2018T>G (p.Met673Arg) | |
| 17 | g.29534219G>A | CA398917288 | TAOK1 | c.2463G>A (p.Met821Ile) c.2019G>A (p.Met673Ile) | dbSNP |
| 17 | g.29534219G>C | CA398917286 | TAOK1 | c.2463G>C (p.Met821Ile) c.2019G>C (p.Met673Ile) | |
| 17 | g.29534219G= | CA2254807185 | TAOK1 | c.2463G= (p.Met821=) c.2019G= (p.Met673=) | |
| 17 | g.29534219G>T | CA398917287 | TAOK1 | c.2463G>T (p.Met821Ile) c.2019G>T (p.Met673Ile) | |
| 17 | g.29534220C>A | CA398917289 | TAOK1 | c.2464C>A (p.Gln822Lys) c.2020C>A (p.Gln674Lys) | |
| 17 | g.29534220C>G | CA398917290 | TAOK1 | c.2464C>G (p.Gln822Glu) c.2020C>G (p.Gln674Glu) | |
| 17 | g.29534220C>T | CA398917291 | TAOK1 | c.2464C>T (p.Gln822Ter) c.2020C>T (p.Gln674Ter) | |
| 17 | g.29534221A>C | CA398917292 | TAOK1 | c.2465A>C (p.Gln822Pro) c.2021A>C (p.Gln674Pro) | |
| 17 | g.29534221A>G | CA398917293 | TAOK1 | c.2465A>G (p.Gln822Arg) c.2021A>G (p.Gln674Arg) | |
| 17 | g.29534221A>T | CA398917294 | TAOK1 | c.2465A>T (p.Gln822Leu) c.2021A>T (p.Gln674Leu) | |
| 17 | g.29534222A= | CA2254807187 | TAOK1 | c.2466A= (p.Gln822=) c.2022A= (p.Gln674=) | |
| 17 | g.29534222A>C | CA398917295 | TAOK1 | c.2466A>C (p.Gln822His) c.2022A>C (p.Gln674His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.29534222A>G | CA499152420 | TAOK1 | c.2466A>G (p.Gln822=) c.2022A>G (p.Gln674=) | gnomAD v4 |
| 17 | g.29534222A>T | CA398917296 | TAOK1 | c.2466A>T (p.Gln822His) c.2022A>T (p.Gln674His) | gnomAD v4 |
| 17 | g.29534223G>A | CA398917297 | TAOK1 | c.2467G>A (p.Ala823Thr) c.2023G>A (p.Ala675Thr) | |
| 17 | g.29534223G>C | CA398917298 | TAOK1 | c.2467G>C (p.Ala823Pro) c.2023G>C (p.Ala675Pro) | |
| 17 | g.29534223G= | CA2254807189 | TAOK1 | c.2467G= (p.Ala823=) c.2023G= (p.Ala675=) | |
| 17 | g.29534223G>T | CA8474863 | TAOK1 | c.2467G>T (p.Ala823Ser) c.2023G>T (p.Ala675Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534224C>A | CA398917300 | TAOK1 | c.2468C>A (p.Ala823Asp) c.2024C>A (p.Ala675Asp) | |
| 17 | g.29534224C>G | CA398917301 | TAOK1 | c.2468C>G (p.Ala823Gly) c.2024C>G (p.Ala675Gly) | |
| 17 | g.29534224C>T | CA398917299 | TAOK1 | c.2468C>T (p.Ala823Val) c.2024C>T (p.Ala675Val) | |
| 17 | g.29534225T>A | CA499152422 | TAOK1 | c.2469T>A (p.Ala823=) c.2025T>A (p.Ala675=) | |
| 17 | g.29534225T>C | CA499152424 | TAOK1 | c.2469T>C (p.Ala823=) c.2025T>C (p.Ala675=) | |
| 17 | g.29534225T>G | CA499152423 | TAOK1 | c.2469T>G (p.Ala823=) c.2025T>G (p.Ala675=) | |
| 17 | g.29534226G>A | CA398917302 | TAOK1 | c.2470G>A (p.Glu824Lys) c.2026G>A (p.Glu676Lys) | |
| 17 | g.29534226G>C | CA398917303 | TAOK1 | c.2470G>C (p.Glu824Gln) c.2026G>C (p.Glu676Gln) | |
| 17 | g.29534226G>T | CA398917304 | TAOK1 | c.2470G>T (p.Glu824Ter) c.2026G>T (p.Glu676Ter) | |
| 17 | g.29534227A>C | CA398917305 | TAOK1 | c.2471A>C (p.Glu824Ala) c.2027A>C (p.Glu676Ala) | |
| 17 | g.29534227A>G | CA398917306 | TAOK1 | c.2471A>G (p.Glu824Gly) c.2027A>G (p.Glu676Gly) | |
| 17 | g.29534227A>T | CA398917307 | TAOK1 | c.2471A>T (p.Glu824Val) c.2027A>T (p.Glu676Val) | |
| 17 | g.29534228G>A | CA499152426 | TAOK1 | c.2472G>A (p.Glu824=) c.2028G>A (p.Glu676=) | |
| 17 | g.29534228G>C | CA398917308 | TAOK1 | c.2472G>C (p.Glu824Asp) c.2028G>C (p.Glu676Asp) | |
| 17 | g.29534228G>T | CA398917309 | TAOK1 | c.2472G>T (p.Glu824Asp) c.2028G>T (p.Glu676Asp) | |
| 17 | g.29534229G>A | CA398917310 | TAOK1 | c.2473G>A (p.Ala825Thr) c.2029G>A (p.Ala677Thr) | |
| 17 | g.29534229G>C | CA398917311 | TAOK1 | c.2473G>C (p.Ala825Pro) c.2029G>C (p.Ala677Pro) | |
| 17 | g.29534229G>T | CA398917312 | TAOK1 | c.2473G>T (p.Ala825Ser) c.2029G>T (p.Ala677Ser) | |
| 17 | g.29534230C>A | CA398917313 | TAOK1 | c.2474C>A (p.Ala825Glu) c.2030C>A (p.Ala677Glu) | |
| 17 | g.29534230C>G | CA398917314 | TAOK1 | c.2474C>G (p.Ala825Gly) c.2030C>G (p.Ala677Gly) | |
| 17 | g.29534230C>T | CA398917315 | TAOK1 | c.2474C>T (p.Ala825Val) c.2030C>T (p.Ala677Val) | dbSNP |
| 17 | g.29534232_29534236del | CA982841817 | TAOK1 | c.2476_2480del (p.Gln826Ter) c.2032_2036del (p.Gln678Ter) | gnomAD v3 gnomAD v4 |
| 17 | g.29534231A= | CA2254807193 | TAOK1 | c.2475A= (p.Ala825=) c.2031A= (p.Ala677=) | |
| 17 | g.29534231A>C | CA499152428 | TAOK1 | c.2475A>C (p.Ala825=) c.2031A>C (p.Ala677=) | |
| 17 | g.29534231A>G | CA8474864 | TAOK1 | c.2475A>G (p.Ala825=) c.2031A>G (p.Ala677=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534231A>T | CA499152429 | TAOK1 | c.2475A>T (p.Ala825=) c.2031A>T (p.Ala677=) | |
| 17 | g.29534232C>A | CA398917316 | TAOK1 | c.2476C>A (p.Gln826Lys) c.2032C>A (p.Gln678Lys) | |
| 17 | g.29534232C>G | CA398917317 | TAOK1 | c.2476C>G (p.Gln826Glu) c.2032C>G (p.Gln678Glu) | |
| 17 | g.29534232C>T | CA398917318 | TAOK1 | c.2476C>T (p.Gln826Ter) c.2032C>T (p.Gln678Ter) | |
| 17 | g.29534233A>C | CA398917319 | TAOK1 | c.2477A>C (p.Gln826Pro) c.2033A>C (p.Gln678Pro) | |
| 17 | g.29534233A>G | CA398917320 | TAOK1 | c.2477A>G (p.Gln826Arg) c.2033A>G (p.Gln678Arg) | |
| 17 | g.29534233A>T | CA398917321 | TAOK1 | c.2477A>T (p.Gln826Leu) c.2033A>T (p.Gln678Leu) | |
| 17 | g.29534234A= | CA2254807196 | TAOK1 | c.2478A= (p.Gln826=) c.2034A= (p.Gln678=) | |
| 17 | g.29534234A>C | CA398917322 | TAOK1 | c.2478A>C (p.Gln826His) c.2034A>C (p.Gln678His) | |
| 17 | g.29534234A>G | CA499152431 | TAOK1 | c.2478A>G (p.Gln826=) c.2034A>G (p.Gln678=) | dbSNP gnomAD v2 |
| 17 | g.29534234A>T | CA8474865 | TAOK1 | c.2478A>T (p.Gln826His) c.2034A>T (p.Gln678His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29534235C>A | CA398917323 | TAOK1 | c.2479C>A (p.His827Asn) c.2035C>A (p.His679Asn) | |
| 17 | g.29534235C>G | CA398917324 | TAOK1 | c.2479C>G (p.His827Asp) c.2035C>G (p.His679Asp) | |
| 17 | g.29534235C>T | CA398917325 | TAOK1 | c.2479C>T (p.His827Tyr) c.2035C>T (p.His679Tyr) | gnomAD v4 |
| 17 | g.29534236A>C | CA398917326 | TAOK1 | c.2480A>C (p.His827Pro) c.2036A>C (p.His679Pro) | gnomAD v4 |
| 17 | g.29534236A>G | CA398917327 | TAOK1 | c.2480A>G (p.His827Arg) c.2036A>G (p.His679Arg) | gnomAD v4 |
| 17 | g.29534236A>T | CA398917328 | TAOK1 | c.2480A>T (p.His827Leu) c.2036A>T (p.His679Leu) | |
| 17 | g.29534237T>A | CA398917329 | TAOK1 | c.2481T>A (p.His827Gln) c.2037T>A (p.His679Gln) | gnomAD v4 |
| 17 | g.29534237T>C | CA499152432 | TAOK1 | c.2481T>C (p.His827=) c.2037T>C (p.His679=) | |
| 17 | g.29534237T>G | CA398917330 | TAOK1 | c.2481T>G (p.His827Gln) c.2037T>G (p.His679Gln) | |
| 17 | g.29534238G>A | CA398917331 | TAOK1 | c.2482G>A (p.Asp828Asn) c.2038G>A (p.Asp680Asn) | |
| 17 | g.29534238G>C | CA398917333 | TAOK1 | c.2482G>C (p.Asp828His) c.2038G>C (p.Asp680His) | |
| 17 | g.29534238G>T | CA398917332 | TAOK1 | c.2482G>T (p.Asp828Tyr) c.2038G>T (p.Asp680Tyr) | |
| 17 | g.29534239A>C | CA398917334 | TAOK1 | c.2483A>C (p.Asp828Ala) c.2039A>C (p.Asp680Ala) | |
| 17 | g.29534239A>G | CA398917335 | TAOK1 | c.2483A>G (p.Asp828Gly) c.2039A>G (p.Asp680Gly) | |
| 17 | g.29534239A>T | CA398917336 | TAOK1 | c.2483A>T (p.Asp828Val) c.2039A>T (p.Asp680Val) | gnomAD v4 |
| 17 | g.29534240T>A | CA398917337 | TAOK1 | c.2484T>A (p.Asp828Glu) c.2040T>A (p.Asp680Glu) | |
| 17 | g.29534240T>C | CA8474866 | TAOK1 | c.2484T>C (p.Asp828=) c.2040T>C (p.Asp680=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534240T>G | CA398917338 | TAOK1 | c.2484T>G (p.Asp828Glu) c.2040T>G (p.Asp680Glu) | |
| 17 | g.29534240T= | CA2254807198 | TAOK1 | c.2484T= (p.Asp828=) c.2040T= (p.Asp680=) | |
| 17 | g.29534241C>A | CA499152434 | TAOK1 | c.2485C>A (p.Arg829=) c.2041C>A (p.Arg681=) | gnomAD v4 |
| 17 | g.29534241C= | CA2254807201 | TAOK1 | c.2485C= (p.Arg829=) c.2041C= (p.Arg681=) | |
| 17 | g.29534241C>G | CA398917339 | TAOK1 | c.2485C>G (p.Arg829Gly) c.2041C>G (p.Arg681Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.29534241C>T | CA398917340 | TAOK1 | c.2485C>T (p.Arg829Ter) c.2041C>T (p.Arg681Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.29534242G>A | CA8474867 | TAOK1 | c.2486G>A (p.Arg829Gln) c.2042G>A (p.Arg681Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.29534242G>C | CA398917341 | TAOK1 | c.2486G>C (p.Arg829Pro) c.2042G>C (p.Arg681Pro) | |
| 17 | g.29534242G= | CA2254807207 | TAOK1 | c.2486G= (p.Arg829=) c.2042G= (p.Arg681=) | |
| 17 | g.29534242G>T | CA398917342 | TAOK1 | c.2486G>T (p.Arg829Leu) c.2042G>T (p.Arg681Leu) | |
| 17 | g.29534243A>C | CA499152438 | TAOK1 | c.2487A>C (p.Arg829=) c.2043A>C (p.Arg681=) | |
| 17 | g.29534243A>G | CA499152439 | TAOK1 | c.2487A>G (p.Arg829=) c.2043A>G (p.Arg681=) | |
| 17 | g.29534243A>T | CA499152440 | TAOK1 | c.2487A>T (p.Arg829=) c.2043A>T (p.Arg681=) | |
| 17 | g.29534244G>A | CA398917345 | TAOK1 | c.2488G>A (p.Glu830Lys) c.2044G>A (p.Glu682Lys) | |
| 17 | g.29534244G>C | CA398917344 | TAOK1 | c.2488G>C (p.Glu830Gln) c.2044G>C (p.Glu682Gln) | |
| 17 | g.29534244G>T | CA398917343 | TAOK1 | c.2488G>T (p.Glu830Ter) c.2044G>T (p.Glu682Ter) | ClinVar dbSNP |
| 17 | g.29534245A>C | CA398917346 | TAOK1 | c.2489A>C (p.Glu830Ala) c.2045A>C (p.Glu682Ala) | |
| 17 | g.29534245A>G | CA398917347 | TAOK1 | c.2489A>G (p.Glu830Gly) c.2045A>G (p.Glu682Gly) | |
| 17 | g.29534245A>T | CA398917348 | TAOK1 | c.2489A>T (p.Glu830Val) c.2045A>T (p.Glu682Val) | |
| 17 | g.29534246G>A | CA8474868 | TAOK1 | c.2490G>A (p.Glu830=) c.2046G>A (p.Glu682=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.29534246G>C | CA398917349 | TAOK1 | c.2490G>C (p.Glu830Asp) c.2046G>C (p.Glu682Asp) | |
| 17 | g.29534246G= | CA2254807210 | TAOK1 | c.2490G= (p.Glu830=) c.2046G= (p.Glu682=) | |
| 17 | g.29534246G>T | CA398917350 | TAOK1 | c.2490G>T (p.Glu830Asp) c.2046G>T (p.Glu682Asp) | |
| 17 | g.29534247C>A | CA398917351 | TAOK1 | c.2491C>A (p.Leu831Ile) c.2047C>A (p.Leu683Ile) | |
| 17 | g.29534247C>G | CA398917352 | TAOK1 | c.2491C>G (p.Leu831Val) c.2047C>G (p.Leu683Val) | |
| 17 | g.29534247C>T | CA398917353 | TAOK1 | c.2491C>T (p.Leu831Phe) c.2047C>T (p.Leu683Phe) |