Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29534124T>A | CA398916854 | TAOK1 | c.2368T>A (p.Leu790Met) c.1924T>A (p.Leu642Met) | |
17 | g.29534124T>C | CA499152337 | TAOK1 | c.2368T>C (p.Leu790=) c.1924T>C (p.Leu642=) | |
17 | g.29534124T>G | CA398916851 | TAOK1 | c.2368T>G (p.Leu790Val) c.1924T>G (p.Leu642Val) | |
17 | g.29534125T>A | CA398916857 | TAOK1 | c.2369T>A (p.Leu790Ter) c.1925T>A (p.Leu642Ter) | |
17 | g.29534125T>C | CA398916861 | TAOK1 | c.2369T>C (p.Leu790Ser) c.1925T>C (p.Leu642Ser) | |
17 | g.29534125T>G | CA398916864 | TAOK1 | c.2369T>G (p.Leu790Trp) c.1925T>G (p.Leu642Trp) | |
17 | g.29534126G>A | CA499152344 | TAOK1 | c.2370G>A (p.Leu790=) c.1926G>A (p.Leu642=) | |
17 | g.29534126G>C | CA398916867 | TAOK1 | c.2370G>C (p.Leu790Phe) c.1926G>C (p.Leu642Phe) | |
17 | g.29534126G= | CA2254807113 | TAOK1 | c.2370G= (p.Leu790=) c.1926G= (p.Leu642=) | |
17 | g.29534126G>T | CA398916870 | TAOK1 | c.2370G>T (p.Leu790Phe) c.1926G>T (p.Leu642Phe) | dbSNP gnomAD v4 |
17 | g.29534127G>A | CA398916873 | TAOK1 | c.2371G>A (p.Asp791Asn) c.1927G>A (p.Asp643Asn) | |
17 | g.29534127G>C | CA398916876 | TAOK1 | c.2371G>C (p.Asp791His) c.1927G>C (p.Asp643His) | |
17 | g.29534127G>T | CA398916880 | TAOK1 | c.2371G>T (p.Asp791Tyr) c.1927G>T (p.Asp643Tyr) | gnomAD v4 |
17 | g.29534128A>C | CA398916884 | TAOK1 | c.2372A>C (p.Asp791Ala) c.1928A>C (p.Asp643Ala) | |
17 | g.29534128A>G | CA398916886 | TAOK1 | c.2372A>G (p.Asp791Gly) c.1928A>G (p.Asp643Gly) | |
17 | g.29534128A>T | CA398916889 | TAOK1 | c.2372A>T (p.Asp791Val) c.1928A>T (p.Asp643Val) | gnomAD v4 |
17 | g.29534129T>A | CA398916892 | TAOK1 | c.2373T>A (p.Asp791Glu) c.1929T>A (p.Asp643Glu) | |
17 | g.29534129T>C | CA499152345 | TAOK1 | c.2373T>C (p.Asp791=) c.1929T>C (p.Asp643=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534129T>G | CA398916896 | TAOK1 | c.2373T>G (p.Asp791Glu) c.1929T>G (p.Asp643Glu) | |
17 | g.29534129T= | CA2254807116 | TAOK1 | c.2373T= (p.Asp791=) c.1929T= (p.Asp643=) | |
17 | g.29534130G>A | CA398916898 | TAOK1 | c.2374G>A (p.Glu792Lys) c.1930G>A (p.Glu644Lys) | |
17 | g.29534130G>C | CA398916905 | TAOK1 | c.2374G>C (p.Glu792Gln) c.1930G>C (p.Glu644Gln) | |
17 | g.29534130G>T | CA398916902 | TAOK1 | c.2374G>T (p.Glu792Ter) c.1930G>T (p.Glu644Ter) | gnomAD v4 |
17 | g.29534131A>C | CA398916909 | TAOK1 | c.2375A>C (p.Glu792Ala) c.1931A>C (p.Glu644Ala) | |
17 | g.29534131A>G | CA398916914 | TAOK1 | c.2375A>G (p.Glu792Gly) c.1931A>G (p.Glu644Gly) | |
17 | g.29534131A>T | CA398916917 | TAOK1 | c.2375A>T (p.Glu792Val) c.1931A>T (p.Glu644Val) | |
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) |