Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29534137A>C | CA398916956 | TAOK1 | c.2381A>C (p.Gln794Pro) c.1937A>C (p.Gln646Pro) | |
17 | g.29534137A>G | CA398916952 | TAOK1 | c.2381A>G (p.Gln794Arg) c.1937A>G (p.Gln646Arg) | gnomAD v4 |
17 | g.29534137A>T | CA398916954 | TAOK1 | c.2381A>T (p.Gln794Leu) c.1937A>T (p.Gln646Leu) | |
17 | g.29534138G>A | CA289202045 | TAOK1 | c.2382G>A (p.Gln794=) c.1938G>A (p.Gln646=) | dbSNP gnomAD v2 |
17 | g.29534138G>C | CA398916960 | TAOK1 | c.2382G>C (p.Gln794His) c.1938G>C (p.Gln646His) | |
17 | g.29534138G= | CA2254807122 | TAOK1 | c.2382G= (p.Gln794=) c.1938G= (p.Gln646=) | |
17 | g.29534138G>T | CA398916962 | TAOK1 | c.2382G>T (p.Gln794His) c.1938G>T (p.Gln646His) | |
17 | g.29534139G>A | CA398916965 | TAOK1 | c.2383G>A (p.Glu795Lys) c.1939G>A (p.Glu647Lys) | |
17 | g.29534139G>C | CA398916967 | TAOK1 | c.2383G>C (p.Glu795Gln) c.1939G>C (p.Glu647Gln) | |
17 | g.29534139G>T | CA398916969 | TAOK1 | c.2383G>T (p.Glu795Ter) c.1939G>T (p.Glu647Ter) | |
17 | g.29534140A>C | CA398916971 | TAOK1 | c.2384A>C (p.Glu795Ala) c.1940A>C (p.Glu647Ala) | |
17 | g.29534140A>G | CA398916973 | TAOK1 | c.2384A>G (p.Glu795Gly) c.1940A>G (p.Glu647Gly) | |
17 | g.29534140A>T | CA398916976 | TAOK1 | c.2384A>T (p.Glu795Val) c.1940A>T (p.Glu647Val) | gnomAD v4 |
17 | g.29534141A>C | CA398916980 | TAOK1 | c.2385A>C (p.Glu795Asp) c.1941A>C (p.Glu647Asp) | |
17 | g.29534141A>G | CA499152350 | TAOK1 | c.2385A>G (p.Glu795=) c.1941A>G (p.Glu647=) | gnomAD v4 |
17 | g.29534141A>T | CA398916981 | TAOK1 | c.2385A>T (p.Glu795Asp) c.1941A>T (p.Glu647Asp) | |
17 | g.29534142G>A | CA398916989 | TAOK1 | c.2386G>A (p.Ala796Thr) c.1942G>A (p.Ala648Thr) | |
17 | g.29534142G>C | CA398916984 | TAOK1 | c.2386G>C (p.Ala796Pro) c.1942G>C (p.Ala648Pro) | |
17 | g.29534142G>T | CA398916986 | TAOK1 | c.2386G>T (p.Ala796Ser) c.1942G>T (p.Ala648Ser) | |
17 | g.29534143C>A | CA398916992 | TAOK1 | c.2387C>A (p.Ala796Glu) c.1943C>A (p.Ala648Glu) | gnomAD v4 |
17 | g.29534143C>G | CA398916995 | TAOK1 | c.2387C>G (p.Ala796Gly) c.1943C>G (p.Ala648Gly) | |
17 | g.29534143C>T | CA398916997 | TAOK1 | c.2387C>T (p.Ala796Val) c.1943C>T (p.Ala648Val) | |
17 | g.29534144A>C | CA499152351 | TAOK1 | c.2388A>C (p.Ala796=) c.1944A>C (p.Ala648=) | |
17 | g.29534144A>G | CA499152352 | TAOK1 | c.2388A>G (p.Ala796=) c.1944A>G (p.Ala648=) | gnomAD v4 |
17 | g.29534144A>T | CA499152353 | TAOK1 | c.2388A>T (p.Ala796=) c.1944A>T (p.Ala648=) | |
17 | g.29534145G>A | CA398917000 | TAOK1 | c.2389G>A (p.Glu797Lys) c.1945G>A (p.Glu649Lys) | |
17 | g.29534145G>C | CA398917002 | TAOK1 | c.2389G>C (p.Glu797Gln) c.1945G>C (p.Glu649Gln) | |
17 | g.29534145G>T | CA398917004 | TAOK1 | c.2389G>T (p.Glu797Ter) c.1945G>T (p.Glu649Ter) | |
17 | g.29534146A= | CA2254807124 | TAOK1 | c.2390A= (p.Glu797=) c.1946A= (p.Glu649=) | |
17 | g.29534146A>C | CA398917007 | TAOK1 | c.2390A>C (p.Glu797Ala) c.1946A>C (p.Glu649Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534146A>G | CA398917009 | TAOK1 | c.2390A>G (p.Glu797Gly) c.1946A>G (p.Glu649Gly) | |
17 | g.29534146A>T | CA398917011 | TAOK1 | c.2390A>T (p.Glu797Val) c.1946A>T (p.Glu649Val) | |
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) |