Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29534132A>C | CA398916920 | TAOK1 | c.2376A>C (p.Glu792Asp) c.1932A>C (p.Glu644Asp) | |
17 | g.29534132A>G | CA499152346 | TAOK1 | c.2376A>G (p.Glu792=) c.1932A>G (p.Glu644=) | |
17 | g.29534132A>T | CA398916923 | TAOK1 | c.2376A>T (p.Glu792Asp) c.1932A>T (p.Glu644Asp) | |
17 | g.29534133G>A | CA398916927 | TAOK1 | c.2377G>A (p.Ala793Thr) c.1933G>A (p.Ala645Thr) | gnomAD v4 |
17 | g.29534133G>C | CA398916930 | TAOK1 | c.2377G>C (p.Ala793Pro) c.1933G>C (p.Ala645Pro) | |
17 | g.29534133G>T | CA398916933 | TAOK1 | c.2377G>T (p.Ala793Ser) c.1933G>T (p.Ala645Ser) | |
17 | g.29534134C>A | CA398916936 | TAOK1 | c.2378C>A (p.Ala793Glu) c.1934C>A (p.Ala645Glu) | gnomAD v4 |
17 | g.29534134C>G | CA398916940 | TAOK1 | c.2378C>G (p.Ala793Gly) c.1934C>G (p.Ala645Gly) | |
17 | g.29534134C>T | CA398916943 | TAOK1 | c.2378C>T (p.Ala793Val) c.1934C>T (p.Ala645Val) | |
17 | g.29534135A= | CA2254807119 | TAOK1 | c.2379A= (p.Ala793=) c.1935A= (p.Ala645=) | |
17 | g.29534135A>C | CA499152349 | TAOK1 | c.2379A>C (p.Ala793=) c.1935A>C (p.Ala645=) | |
17 | g.29534135A>G | CA499152348 | TAOK1 | c.2379A>G (p.Ala793=) c.1935A>G (p.Ala645=) | |
17 | g.29534135A>T | CA499152347 | TAOK1 | c.2379A>T (p.Ala793=) c.1935A>T (p.Ala645=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534136C>A | CA398916948 | TAOK1 | c.2380C>A (p.Gln794Lys) c.1936C>A (p.Gln646Lys) | |
17 | g.29534136C>G | CA398916950 | TAOK1 | c.2380C>G (p.Gln794Glu) c.1936C>G (p.Gln646Glu) | |
17 | g.29534136C>T | CA398916947 | TAOK1 | c.2380C>T (p.Gln794Ter) c.1936C>T (p.Gln646Ter) | gnomAD v4 |
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 |