Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29530499T>A | CA499151690 | TAOK1 | c.2241T>A (p.Thr747=) c.1797T>A (p.Thr599=) n.325T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29530499T>C | CA499151691 | TAOK1 | c.2241T>C (p.Thr747=) c.1797T>C (p.Thr599=) n.325T>C | gnomAD v4 |
17 | g.29530499T>G | CA499151692 | TAOK1 | c.2241T>G (p.Thr747=) c.1797T>G (p.Thr599=) n.325T>G | gnomAD v4 |
17 | g.29530499T= | CA2254806462 | TAOK1 | c.2241T= (p.Thr747=) c.1797T= (p.Thr599=) n.325T= | |
17 | g.29530500A>C | CA398914915 | TAOK1 | c.2242A>C (p.Thr748Pro) c.1798A>C (p.Thr600Pro) n.326A>C | |
17 | g.29530500A>G | CA398914916 | TAOK1 | c.2242A>G (p.Thr748Ala) c.1798A>G (p.Thr600Ala) n.326A>G | |
17 | g.29530500A>T | CA398914918 | TAOK1 | c.2242A>T (p.Thr748Ser) c.1798A>T (p.Thr600Ser) n.326A>T | gnomAD v4 |
17 | g.29530501C>A | CA398914919 | TAOK1 | c.2243C>A (p.Thr748Lys) c.1799C>A (p.Thr600Lys) n.327C>A | |
17 | g.29530501C>G | CA398914921 | TAOK1 | c.2243C>G (p.Thr748Arg) c.1799C>G (p.Thr600Arg) n.327C>G | |
17 | g.29530501C>T | CA398914922 | TAOK1 | c.2243C>T (p.Thr748Ile) c.1799C>T (p.Thr600Ile) n.327C>T | |
17 | g.29530502A= | CA2254806463 | TAOK1 | c.2244A= (p.Thr748=) c.1800A= (p.Thr600=) n.328A= | |
17 | g.29530502A>C | CA499151693 | TAOK1 | c.2244A>C (p.Thr748=) c.1800A>C (p.Thr600=) n.328A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29530502A>G | CA499151694 | TAOK1 | c.2244A>G (p.Thr748=) c.1800A>G (p.Thr600=) n.328A>G | |
17 | g.29530502A>T | CA499151695 | TAOK1 | c.2244A>T (p.Thr748=) c.1800A>T (p.Thr600=) n.328A>T | |
17 | g.29530503C>A | CA398914928 | TAOK1 | c.2245C>A (p.Pro749Thr) c.1801C>A (p.Pro601Thr) n.329C>A | |
17 | g.29530503C>G | CA398914926 | TAOK1 | c.2245C>G (p.Pro749Ala) c.1801C>G (p.Pro601Ala) n.329C>G | |
17 | g.29530503C>T | CA398914924 | TAOK1 | c.2245C>T (p.Pro749Ser) c.1801C>T (p.Pro601Ser) n.329C>T | |
17 | g.29530504C>A | CA398914931 | TAOK1 | c.2246C>A (p.Pro749Gln) c.1802C>A (p.Pro601Gln) n.330C>A | |
17 | g.29530504C= | CA2254806464 | TAOK1 | c.2246C= (p.Pro749=) c.1802C= (p.Pro601=) n.330C= | |
17 | g.29530504C>G | CA398914932 | TAOK1 | c.2246C>G (p.Pro749Arg) c.1802C>G (p.Pro601Arg) n.330C>G | dbSNP |
17 | g.29530504C>T | CA398914935 | TAOK1 | c.2246C>T (p.Pro749Leu) c.1802C>T (p.Pro601Leu) n.330C>T | |
17 | g.29530505A= | CA2254806465 | TAOK1 | c.2247A= (p.Pro749=) c.1803A= (p.Pro601=) n.331A= | |
17 | g.29530505A>C | CA499151697 | TAOK1 | c.2247A>C (p.Pro749=) c.1803A>C (p.Pro601=) n.331A>C | |
17 | g.29530505A>G | CA499151698 | TAOK1 | c.2247A>G (p.Pro749=) c.1803A>G (p.Pro601=) n.331A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29530505A>T | CA499151696 | TAOK1 | c.2247A>T (p.Pro749=) c.1803A>T (p.Pro601=) n.331A>T | |
17 | g.29530506A>C | CA398914938 | TAOK1 | c.2248A>C (p.Lys750Gln) c.1804A>C (p.Lys602Gln) n.332A>C | |
17 | g.29530506A>G | CA398914939 | TAOK1 | c.2248A>G (p.Lys750Glu) c.1804A>G (p.Lys602Glu) n.332A>G | |
17 | g.29530506A>T | CA398914941 | TAOK1 | c.2248A>T (p.Lys750Ter) c.1804A>T (p.Lys602Ter) n.332A>T | |
17 | g.29530507A>C | CA398914947 | TAOK1 | c.2249A>C (p.Lys750Thr) c.1805A>C (p.Lys602Thr) n.333A>C | |
17 | g.29530507A>G | CA398914943 | TAOK1 | c.2249A>G (p.Lys750Arg) c.1805A>G (p.Lys602Arg) n.333A>G | |
17 | g.29530507A>T | CA398914945 | TAOK1 | c.2249A>T (p.Lys750Met) c.1805A>T (p.Lys602Met) n.333A>T | |
17 | g.29530508G>A | CA499151699 | TAOK1 | c.2250G>A (p.Lys750=) c.1806G>A (p.Lys602=) n.334G>A | |
17 | g.29530508G>C | CA398914949 | TAOK1 | c.2250G>C (p.Lys750Asn) c.1806G>C (p.Lys602Asn) n.334G>C | |
17 | g.29530508G>T | CA398914951 | TAOK1 | c.2250G>T (p.Lys750Asn) c.1806G>T (p.Lys602Asn) n.334G>T | |
17 | g.29530511_29530514del | CA2573054361 | TAOK1 | c.2253_2256del (p.Glu752ThrfsTer5) c.1809_1812del (p.Glu604ThrfsTer5) n.337_340del | ClinVar dbSNP |
17 | g.29530509A>C | CA398914954 | TAOK1 | c.2251A>C (p.Ser751Arg) c.1807A>C (p.Ser603Arg) n.335A>C | |
17 | g.29530509A>G | CA398914956 | TAOK1 | c.2251A>G (p.Ser751Gly) c.1807A>G (p.Ser603Gly) n.335A>G | |
17 | g.29530509A>T | CA398914958 | TAOK1 | c.2251A>T (p.Ser751Cys) c.1807A>T (p.Ser603Cys) n.335A>T | |
17 | g.29530510G>A | CA398914960 | TAOK1 | c.2252G>A (p.Ser751Asn) c.1808G>A (p.Ser603Asn) n.336G>A | |
17 | g.29530510G>C | CA398914962 | TAOK1 | c.2252G>C (p.Ser751Thr) c.1808G>C (p.Ser603Thr) n.336G>C | |
17 | g.29530510G>T | CA398914964 | TAOK1 | c.2252G>T (p.Ser751Ile) c.1808G>T (p.Ser603Ile) n.336G>T | |
17 | g.29530511T>A | CA398914966 | TAOK1 | c.2253T>A (p.Ser751Arg) c.1809T>A (p.Ser603Arg) n.337T>A | |
17 | g.29530511T>C | CA499151700 | TAOK1 | c.2253T>C (p.Ser751=) c.1809T>C (p.Ser603=) n.337T>C | |
17 | g.29530511T>G | CA398914968 | TAOK1 | c.2253T>G (p.Ser751Arg) c.1809T>G (p.Ser603Arg) n.337T>G | |
17 | g.29530512G>A | CA398914970 | TAOK1 | c.2254G>A (p.Glu752Lys) c.1810G>A (p.Glu604Lys) n.338G>A | |
17 | g.29530512G>C | CA398914972 | TAOK1 | c.2254G>C (p.Glu752Gln) c.1810G>C (p.Glu604Gln) n.338G>C | |
17 | g.29530512G>T | CA398914973 | TAOK1 | c.2254G>T (p.Glu752Ter) c.1810G>T (p.Glu604Ter) n.338G>T | |
17 | g.29530513A>C | CA398914975 | TAOK1 | c.2255A>C (p.Glu752Ala) c.1811A>C (p.Glu604Ala) n.339A>C | |
17 | g.29530513A>G | CA398914980 | TAOK1 | c.2255A>G (p.Glu752Gly) c.1811A>G (p.Glu604Gly) n.339A>G | |
17 | g.29530513A>T | CA398914977 | TAOK1 | c.2255A>T (p.Glu752Val) c.1811A>T (p.Glu604Val) n.339A>T |