17 | g.29477631T>A | CA2636950321 | TAOK1 | c.307-30T>A (n.307-30T>A)
| gnomAD v4 |
17 | g.29477631T>C | CA2254780456 | TAOK1 | c.307-30T>C (n.307-30T>C)
| dbSNP gnomAD v4 |
17 | g.29477631T= | CA2254780455 | TAOK1 | c.307-30T= (n.307-30T=)
| |
17 | g.29477634del | CA2636950320 | TAOK1 | c.307-27del (n.307-27del)
| gnomAD v4 |
17 | g.29477632T>C | CA2636950322 | TAOK1 | c.307-29T>C (n.307-29T>C)
| gnomAD v4 |
17 | g.29477633T>C | CA2636950323 | TAOK1 | c.307-28T>C (n.307-28T>C)
| gnomAD v4 |
17 | g.29477634T>C | CA2636950324 | TAOK1 | c.307-27T>C (n.307-27T>C)
| gnomAD v4 |
17 | g.29477635A>G | CA2636950325 | TAOK1 | c.307-26A>G (n.307-26A>G)
| gnomAD v4 |
17 | g.29477635A>T | CA2636950326 | TAOK1 | c.307-26A>T (n.307-26A>T)
| gnomAD v4 |
17 | g.29477636A>G | CA2636950327 | TAOK1 | c.307-25A>G (n.307-25A>G)
| gnomAD v4 |
17 | g.29477637T>C | CA2636950328 | TAOK1 | c.307-24T>C (n.307-24T>C)
| gnomAD v4 |
17 | g.29477638G>A | CA2636950329 | TAOK1 | c.307-23G>A (n.307-23G>A)
| gnomAD v4 |
17 | g.29477638G>C | CA2636950330 | TAOK1 | c.307-23G>C (n.307-23G>C)
| gnomAD v4 |
17 | g.29477638G>T | CA2636950331 | TAOK1 | c.307-23G>T (n.307-23G>T)
| gnomAD v4 |
17 | g.29477639C>A | CA625668342 | TAOK1 | c.307-22C>A (n.307-22C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477639C= | CA2254780457 | TAOK1 | c.307-22C= (n.307-22C=)
| |
17 | g.29477639C>G | CA2636950333 | TAOK1 | c.307-22C>G (n.307-22C>G)
| gnomAD v4 |
17 | g.29477639C>T | CA2636950332 | TAOK1 | c.307-22C>T (n.307-22C>T)
| gnomAD v4 |
17 | g.29477640T>A | CA289643140 | TAOK1 | c.307-21T>A (n.307-21T>A)
| dbSNP |
17 | g.29477640T>C | CA8474401 | TAOK1 | c.307-21T>C (n.307-21T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29477640T= | CA2254780459 | TAOK1 | c.307-21T= (n.307-21T=)
| |
17 | g.29477643dup | CA8474400 | TAOK1 | c.307-18dup (n.307-18dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477643del | CA2636950334 | TAOK1 | c.307-18del (n.307-18del)
| gnomAD v4 |
17 | g.29477641T>A | CA2636950336 | TAOK1 | c.307-20T>A (n.307-20T>A)
| gnomAD v4 |
17 | g.29477641T>C | CA2636950337 | TAOK1 | c.307-20T>C (n.307-20T>C)
| gnomAD v4 |
17 | g.29477641T>G | CA2254780460 | TAOK1 | c.307-20T>G (n.307-20T>G)
| dbSNP gnomAD v4 |
17 | g.29477641T= | CA2254780461 | TAOK1 | c.307-20T= (n.307-20T=)
| |
17 | g.29477644_29477651del | CA2636950335 | TAOK1 | c.307-17_307-10del (n.307-17_307-10del)
| gnomAD v4 |
17 | g.29477642T>C | CA2636950338 | TAOK1 | c.307-19T>C (n.307-19T>C)
| gnomAD v4 |
17 | g.29477643T>C | CA2636950339 | TAOK1 | c.307-18T>C (n.307-18T>C)
| gnomAD v4 |
17 | g.29477643T>G | CA2636950340 | TAOK1 | c.307-18T>G (n.307-18T>G)
| gnomAD v4 |
17 | g.29477644A= | CA2254780462 | TAOK1 | c.307-17A= (n.307-17A=)
| |
17 | g.29477644A>G | CA982820864 | TAOK1 | c.307-17A>G (n.307-17A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.29477644A>T | CA2636950341 | TAOK1 | c.307-17A>T (n.307-17A>T)
| gnomAD v4 |
17 | g.29477645T>A | CA2636950342 | TAOK1 | c.307-16T>A (n.307-16T>A)
| gnomAD v4 |
17 | g.29477645T>C | CA2636950343 | TAOK1 | c.307-16T>C (n.307-16T>C)
| gnomAD v4 |
17 | g.29477646A>G | CA2636950345 | TAOK1 | c.307-15A>G (n.307-15A>G)
| gnomAD v4 |
17 | g.29477647del | CA2636950344 | TAOK1 | c.307-14del (n.307-14del)
| gnomAD v4 |
17 | g.29477647A>G | CA2636950346 | TAOK1 | c.307-14A>G (n.307-14A>G)
| gnomAD v4 |
17 | g.29477648C>A | CA2636950347 | TAOK1 | c.307-13C>A (n.307-13C>A)
| gnomAD v4 |
17 | g.29477648C>T | CA2576216217 | TAOK1 | c.307-13C>T (n.307-13C>T)
| gnomAD v4 |
17 | g.29477649T>C | CA2636950348 | TAOK1 | c.307-12T>C (n.307-12T>C)
| gnomAD v4 |
17 | g.29477652del | CA2576216218 | TAOK1 | c.307-9del (n.307-9del)
| gnomAD v4 |
17 | g.29477650T>C | CA2636950349 | TAOK1 | c.307-11T>C (n.307-11T>C)
| gnomAD v4 |
17 | g.29477651T>C | CA2636950350 | TAOK1 | c.307-10T>C (n.307-10T>C)
| gnomAD v4 |
17 | g.29477652T>C | CA8474402 | TAOK1 | c.307-9T>C (n.307-9T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477652T= | CA2254780465 | TAOK1 | c.307-9T= (n.307-9T=)
| |
17 | g.29477652_29477653delinsTC | CA2254780464 | TAOK1 | c.307-9_307-8delinsTC (n.307-9_307-8delinsTC)
| |
17 | g.29477653C>A | CA2636950352 | TAOK1 | c.307-8C>A (n.307-8C>A)
| gnomAD v4 |
17 | g.29477653C= | CA2254780469 | TAOK1 | c.307-8C= (n.307-8C=)
| |
17 | g.29477653C>G | CA2636950353 | TAOK1 | c.307-8C>G (n.307-8C>G)
| gnomAD v4 |
17 | g.29477653C>T | CA8474404 | TAOK1 | c.307-8C>T (n.307-8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477653_29477654insAGC | CA2636950351 | TAOK1 | c.307-8_307-7insAGC (n.307-8_307-7insAGC)
| gnomAD v4 |
17 | g.29477654dup | CA289643141 | TAOK1 | c.307-7dup (n.307-7dup)
| dbSNP |
17 | g.29477654del | CA8474403 | TAOK1 | c.307-7del (n.307-7del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29477654C>A | CA2636950354 | TAOK1 | c.307-7C>A (n.307-7C>A)
| gnomAD v4 |
17 | g.29477654C= | CA2254780474 | TAOK1 | c.307-7C= (n.307-7C=)
| |
17 | g.29477654C>T | CA8474405 | TAOK1 | c.307-7C>T (n.307-7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29477655A>G | CA2576216219 | TAOK1 | c.307-6A>G (n.307-6A>G)
| gnomAD v4 |
17 | g.29477655A>T | CA2636950355 | TAOK1 | c.307-6A>T (n.307-6A>T)
| gnomAD v4 |
17 | g.29477656T>C | CA8474406 | TAOK1 | c.307-5T>C (n.307-5T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477656T= | CA2254780475 | TAOK1 | c.307-5T= (n.307-5T=)
| |
17 | g.29477657G>A | CA625668343 | TAOK1 | c.307-4G>A (n.307-4G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477657G>C | CA2636950356 | TAOK1 | c.307-4G>C (n.307-4G>C)
| gnomAD v4 |
17 | g.29477657G= | CA2254780477 | TAOK1 | c.307-4G= (n.307-4G=)
| |
17 | g.29477657G>T | CA625668344 | TAOK1 | c.307-4G>T (n.307-4G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477658T>A | CA2636950357 | TAOK1 | c.307-3T>A (n.307-3T>A)
| gnomAD v4 |
17 | g.29477658T>C | CA2636950358 | TAOK1 | c.307-3T>C (n.307-3T>C)
| gnomAD v4 |
17 | g.29477659A>C | CA399189010 | TAOK1 | c.307-2A>C (n.307-2A>C)
| |
17 | g.29477659A>G | CA399189013 | TAOK1 | c.307-2A>G (n.307-2A>G)
| gnomAD v4 |
17 | g.29477659A>T | CA399189016 | TAOK1 | c.307-2A>T (n.307-2A>T)
| |
17 | g.29477660G>A | CA399189020 | TAOK1 | c.307-1G>A (n.307-1G>A)
| |
17 | g.29477660G>C | CA399189022 | TAOK1 | c.307-1G>C (n.307-1G>C)
| gnomAD v4 |
17 | g.29477660G>T | CA399189025 | TAOK1 | c.307-1G>T (n.307-1G>T)
| gnomAD v4 |
17 | g.29477661C>A | CA399189027 | TAOK1 | c.307C>A (p.Leu103Ile)
| gnomAD v4 |
17 | g.29477661C= | CA2254780481 | TAOK1 | c.307C= (p.Leu103=)
| |
17 | g.29477661C>G | CA399189028 | TAOK1 | c.307C>G (p.Leu103Val)
| gnomAD v4 |
17 | g.29477661C>T | CA399189030 | TAOK1 | c.307C>T (p.Leu103Phe)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.29477662T>A | CA399189031 | TAOK1 | c.308T>A (p.Leu103His)
| gnomAD v4 |
17 | g.29477662T>C | CA399189033 | TAOK1 | c.308T>C (p.Leu103Pro)
| gnomAD v4 |
17 | g.29477662T>G | CA399189034 | TAOK1 | c.308T>G (p.Leu103Arg)
| |
17 | g.29477663T>A | CA499308425 | TAOK1 | c.309T>A (p.Leu103=)
| |
17 | g.29477663T>C | CA499308423 | TAOK1 | c.309T>C (p.Leu103=)
| gnomAD v4 |
17 | g.29477663T>G | CA499308424 | TAOK1 | c.309T>G (p.Leu103=)
| gnomAD v4 |
17 | g.29477664G>A | CA399189040 | TAOK1 | c.310G>A (p.Val104Ile)
| gnomAD v4 |
17 | g.29477664G>C | CA399189038 | TAOK1 | c.310G>C (p.Val104Leu)
| |
17 | g.29477664G>T | CA399189036 | TAOK1 | c.310G>T (p.Val104Leu)
| gnomAD v4 |
17 | g.29477665T>A | CA399189042 | TAOK1 | c.311T>A (p.Val104Glu)
| |
17 | g.29477665T>C | CA399189043 | TAOK1 | c.311T>C (p.Val104Ala)
| |
17 | g.29477665T>G | CA399189044 | TAOK1 | c.311T>G (p.Val104Gly)
| |
17 | g.29477666A= | CA2254780483 | TAOK1 | c.312A= (p.Val104=)
| |
17 | g.29477666A>C | CA499308426 | TAOK1 | c.312A>C (p.Val104=)
| |
17 | g.29477666A>G | CA499308427 | TAOK1 | c.312A>G (p.Val104=)
| dbSNP gnomAD v4 |
17 | g.29477666A>T | CA499308428 | TAOK1 | c.312A>T (p.Val104=)
| |
17 | g.29477667A>C | CA399189045 | TAOK1 | c.313A>C (p.Met105Leu)
| |
17 | g.29477667A>G | CA399189046 | TAOK1 | c.313A>G (p.Met105Val)
| gnomAD v4 |
17 | g.29477667A>T | CA399189047 | TAOK1 | c.313A>T (p.Met105Leu)
| |
17 | g.29477668T>A | CA399189048 | TAOK1 | c.314T>A (p.Met105Lys)
| |
17 | g.29477668T>C | CA399189049 | TAOK1 | c.314T>C (p.Met105Thr)
| gnomAD v4 |
17 | g.29477668T>G | CA399189050 | TAOK1 | c.314T>G (p.Met105Arg)
| |
17 | g.29477669G>A | CA399189051 | TAOK1 | c.315G>A (p.Met105Ile)
| |
17 | g.29477669G>C | CA399189052 | TAOK1 | c.315G>C (p.Met105Ile)
| |
17 | g.29477669G>T | CA399189053 | TAOK1 | c.315G>T (p.Met105Ile)
| gnomAD v4 |
17 | g.29477670G>A | CA399189055 | TAOK1 | c.316G>A (p.Glu106Lys)
| gnomAD v4 |
17 | g.29477670G>C | CA399189056 | TAOK1 | c.316G>C (p.Glu106Gln)
| gnomAD v4 |
17 | g.29477670G>T | CA399189054 | TAOK1 | c.316G>T (p.Glu106Ter)
| gnomAD v4 |
17 | g.29477671A>C | CA399189057 | TAOK1 | c.317A>C (p.Glu106Ala)
| gnomAD v4 |
17 | g.29477671A>G | CA399189058 | TAOK1 | c.317A>G (p.Glu106Gly)
| gnomAD v4 |
17 | g.29477671A>T | CA399189059 | TAOK1 | c.317A>T (p.Glu106Val)
| |
17 | g.29477672A= | CA2254780485 | TAOK1 | c.318A= (p.Glu106=)
| |
17 | g.29477672A>C | CA399189060 | TAOK1 | c.318A>C (p.Glu106Asp)
| |
17 | g.29477672A>G | CA499308429 | TAOK1 | c.318A>G (p.Glu106=)
| dbSNP gnomAD v4 |
17 | g.29477672A>T | CA399189061 | TAOK1 | c.318A>T (p.Glu106Asp)
| |
17 | g.29477673T>A | CA399189064 | TAOK1 | c.319T>A (p.Tyr107Asn)
| gnomAD v4 |
17 | g.29477673T>C | CA399189062 | TAOK1 | c.319T>C (p.Tyr107His)
| gnomAD v4 |
17 | g.29477673T>G | CA399189063 | TAOK1 | c.319T>G (p.Tyr107Asp)
| |
17 | g.29477674A>C | CA399189065 | TAOK1 | c.320A>C (p.Tyr107Ser)
| |
17 | g.29477674A>G | CA399189066 | TAOK1 | c.320A>G (p.Tyr107Cys)
| gnomAD v4 COSMIC |
17 | g.29477674A>T | CA399189067 | TAOK1 | c.320A>T (p.Tyr107Phe)
| |
17 | g.29477675T>A | CA399189068 | TAOK1 | c.321T>A (p.Tyr107Ter)
| |
17 | g.29477675T>C | CA499308430 | TAOK1 | c.321T>C (p.Tyr107=)
| gnomAD v4 |
17 | g.29477675T>G | CA399189069 | TAOK1 | c.321T>G (p.Tyr107Ter)
| |
17 | g.29477676T>A | CA399189070 | TAOK1 | c.322T>A (p.Cys108Ser)
| |
17 | g.29477676T>C | CA399189074 | TAOK1 | c.322T>C (p.Cys108Arg)
| gnomAD v4 |
17 | g.29477676T>G | CA399189072 | TAOK1 | c.322T>G (p.Cys108Gly)
| |
17 | g.29477677G>A | CA399189076 | TAOK1 | c.323G>A (p.Cys108Tyr)
| |
17 | g.29477677G>C | CA399189078 | TAOK1 | c.323G>C (p.Cys108Ser)
| |
17 | g.29477677G>T | CA399189077 | TAOK1 | c.323G>T (p.Cys108Phe)
| gnomAD v4 |
17 | g.29477678T>A | CA399189080 | TAOK1 | c.324T>A (p.Cys108Ter)
| |
17 | g.29477678T>C | CA499308431 | TAOK1 | c.324T>C (p.Cys108=)
| gnomAD v4 |
17 | g.29477678T>G | CA399189082 | TAOK1 | c.324T>G (p.Cys108Trp)
| |
17 | g.29477680del | CA2636950359 | TAOK1 | c.326del (p.Leu109Ter)
| gnomAD v4 |
17 | g.29477679T>A | CA399189084 | TAOK1 | c.325T>A (p.Leu109Ile)
| |
17 | g.29477679T>C | CA499308432 | TAOK1 | c.325T>C (p.Leu109=)
| gnomAD v4 |
17 | g.29477679T>G | CA399189085 | TAOK1 | c.325T>G (p.Leu109Val)
| |
17 | g.29477680T>A | CA399189087 | TAOK1 | c.326T>A (p.Leu109Ter)
| |
17 | g.29477680T>C | CA399189089 | TAOK1 | c.326T>C (p.Leu109Ser)
| gnomAD v4 |
17 | g.29477680T>G | CA399189090 | TAOK1 | c.326T>G (p.Leu109Ter)
| |
17 | g.29477681A= | CA2254780486 | TAOK1 | c.327A= (p.Leu109=)
| |
17 | g.29477681A>C | CA399189091 | TAOK1 | c.327A>C (p.Leu109Phe)
| |
17 | g.29477681A>G | CA8474407 | TAOK1 | c.327A>G (p.Leu109=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29477681A>T | CA399189094 | TAOK1 | c.327A>T (p.Leu109Phe)
| gnomAD v4 |
17 | g.29477682G>A | CA399189096 | TAOK1 | c.328G>A (p.Gly110Arg)
| gnomAD v4 |
17 | g.29477682G>C | CA399189097 | TAOK1 | c.328G>C (p.Gly110Arg)
| |
17 | g.29477682G>T | CA399189099 | TAOK1 | c.328G>T (p.Gly110Ter)
| gnomAD v4 |
17 | g.29477683G>A | CA399189104 | TAOK1 | c.329G>A (p.Gly110Glu)
| gnomAD v4 |
17 | g.29477683G>C | CA399189102 | TAOK1 | c.329G>C (p.Gly110Ala)
| |
17 | g.29477683G>T | CA399189101 | TAOK1 | c.329G>T (p.Gly110Val)
| gnomAD v4 |
17 | g.29477684A= | CA2254780487 | TAOK1 | c.330A= (p.Gly110=)
| |
17 | g.29477684A>C | CA499308433 | TAOK1 | c.330A>C (p.Gly110=)
| |
17 | g.29477684A>G | CA8474408 | TAOK1 | c.330A>G (p.Gly110=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29477684A>T | CA499308434 | TAOK1 | c.330A>T (p.Gly110=)
| gnomAD v4 |
17 | g.29477685T>A | CA399189107 | TAOK1 | c.331T>A (p.Ser111Thr)
| |
17 | g.29477685T>C | CA399189108 | TAOK1 | c.331T>C (p.Ser111Pro)
| gnomAD v4 |
17 | g.29477685T>G | CA399189110 | TAOK1 | c.331T>G (p.Ser111Ala)
| |
17 | g.29477686C>A | CA399189112 | TAOK1 | c.332C>A (p.Ser111Tyr)
| gnomAD v4 |
17 | g.29477686C= | CA2254780488 | TAOK1 | c.332C= (p.Ser111=)
| |
17 | g.29477686C>G | CA399189114 | TAOK1 | c.332C>G (p.Ser111Cys)
| |
17 | g.29477686C>T | CA399189115 | TAOK1 | c.332C>T (p.Ser111Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.29477687T>A | CA499308435 | TAOK1 | c.333T>A (p.Ser111=)
| |
17 | g.29477687T>C | CA499308436 | TAOK1 | c.333T>C (p.Ser111=)
| gnomAD v4 |
17 | g.29477687T>G | CA499308437 | TAOK1 | c.333T>G (p.Ser111=)
| |
17 | g.29477688G>A | CA399189118 | TAOK1 | c.334G>A (p.Ala112Thr)
| gnomAD v4 |
17 | g.29477688G>C | CA399189120 | TAOK1 | c.334G>C (p.Ala112Pro)
| gnomAD v4 |
17 | g.29477688G>T | CA399189122 | TAOK1 | c.334G>T (p.Ala112Ser)
| gnomAD v4 |
17 | g.29477689C>A | CA399189125 | TAOK1 | c.335C>A (p.Ala112Asp)
| gnomAD v4 |
17 | g.29477689C>G | CA399189127 | TAOK1 | c.335C>G (p.Ala112Gly)
| gnomAD v4 |
17 | g.29477689C>T | CA399189129 | TAOK1 | c.335C>T (p.Ala112Val)
| gnomAD v4 |
17 | g.29477690T>A | CA499308439 | TAOK1 | c.336T>A (p.Ala112=)
| |
17 | g.29477690T>C | CA499308438 | TAOK1 | c.336T>C (p.Ala112=)
| gnomAD v4 |
17 | g.29477690T>G | CA499308440 | TAOK1 | c.336T>G (p.Ala112=)
| |
17 | g.29477691T>A | CA399189135 | TAOK1 | c.337T>A (p.Ser113Thr)
| gnomAD v4 |
17 | g.29477691T>C | CA399189137 | TAOK1 | c.337T>C (p.Ser113Pro)
| gnomAD v4 |
17 | g.29477691T>G | CA399189132 | TAOK1 | c.337T>G (p.Ser113Ala)
| |
17 | g.29477692C>A | CA399189140 | TAOK1 | c.338C>A (p.Ser113Ter)
| gnomAD v4 |
17 | g.29477692C>G | CA399189143 | TAOK1 | c.338C>G (p.Ser113Trp)
| |
17 | g.29477692C>T | CA399189146 | TAOK1 | c.338C>T (p.Ser113Leu)
| gnomAD v4 |
17 | g.29477693G>A | CA289643142 | TAOK1 | c.339G>A (p.Ser113=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477693G>C | CA499308441 | TAOK1 | c.339G>C (p.Ser113=)
| |
17 | g.29477693G= | CA2254780489 | TAOK1 | c.339G= (p.Ser113=)
| |
17 | g.29477693G>T | CA499308442 | TAOK1 | c.339G>T (p.Ser113=)
| gnomAD v4 |
17 | g.29477694G>A | CA399189148 | TAOK1 | c.340G>A (p.Asp114Asn)
| gnomAD v4 |
17 | g.29477694G>C | CA399189149 | TAOK1 | c.340G>C (p.Asp114His)
| gnomAD v4 |
17 | g.29477694G>T | CA399189150 | TAOK1 | c.340G>T (p.Asp114Tyr)
| gnomAD v4 COSMIC |
17 | g.29477695A>C | CA399189151 | TAOK1 | c.341A>C (p.Asp114Ala)
| |
17 | g.29477695A>G | CA399189152 | TAOK1 | c.341A>G (p.Asp114Gly)
| gnomAD v4 |
17 | g.29477695A>T | CA399189153 | TAOK1 | c.341A>T (p.Asp114Val)
| |
17 | g.29477696T>A | CA399189154 | TAOK1 | c.342T>A (p.Asp114Glu)
| |
17 | g.29477696T>C | CA499308443 | TAOK1 | c.342T>C (p.Asp114=)
| gnomAD v4 |
17 | g.29477696T>G | CA399189155 | TAOK1 | c.342T>G (p.Asp114Glu)
| |
17 | g.29477697T>A | CA399189157 | TAOK1 | c.343T>A (p.Leu115Ile)
| |
17 | g.29477697T>C | CA499308444 | TAOK1 | c.343T>C (p.Leu115=)
| gnomAD v4 |
17 | g.29477697T>G | CA399189160 | TAOK1 | c.343T>G (p.Leu115Val)
| |
17 | g.29477698T>A | CA399189163 | TAOK1 | c.344T>A (p.Leu115Ter)
| |
17 | g.29477698T>C | CA399189169 | TAOK1 | c.344T>C (p.Leu115Ser)
| gnomAD v4 |
17 | g.29477698T>G | CA399189165 | TAOK1 | c.344T>G (p.Leu115Ter)
| |
17 | g.29477699A= | CA2254780492 | TAOK1 | c.345A= (p.Leu115=)
| |
17 | g.29477699A>C | CA399189172 | TAOK1 | c.345A>C (p.Leu115Phe)
| |
17 | g.29477699A>G | CA499308445 | TAOK1 | c.345A>G (p.Leu115=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477699A>T | CA399189175 | TAOK1 | c.345A>T (p.Leu115Phe)
| gnomAD v4 |
17 | g.29477700C>A | CA399189177 | TAOK1 | c.346C>A (p.Leu116Ile)
| gnomAD v4 |
17 | g.29477700C>G | CA399189178 | TAOK1 | c.346C>G (p.Leu116Val)
| gnomAD v4 |
17 | g.29477700C>T | CA499308446 | TAOK1 | c.346C>T (p.Leu116=)
| dbSNP gnomAD v4 |
17 | g.29477701del | CA2636950360 | TAOK1 | c.347del (p.Leu116GlnfsTer13)
| gnomAD v4 |
17 | g.29477701T>A | CA399189182 | TAOK1 | c.347T>A (p.Leu116Gln)
| |
17 | g.29477701T>C | CA399189184 | TAOK1 | c.347T>C (p.Leu116Pro)
| gnomAD v4 |
17 | g.29477701T>G | CA399189187 | TAOK1 | c.347T>G (p.Leu116Arg)
| |
17 | g.29477702A= | CA2254780495 | TAOK1 | c.348A= (p.Leu116=)
| |
17 | g.29477702A>C | CA499308447 | TAOK1 | c.348A>C (p.Leu116=)
| |
17 | g.29477702A>G | CA499308448 | TAOK1 | c.348A>G (p.Leu116=)
| dbSNP gnomAD v4 |
17 | g.29477702A>T | CA499308449 | TAOK1 | c.348A>T (p.Leu116=)
| |
17 | g.29477703G>A | CA399189189 | TAOK1 | c.349G>A (p.Glu117Lys)
| gnomAD v4 |
17 | g.29477703G>C | CA399189191 | TAOK1 | c.349G>C (p.Glu117Gln)
| |
17 | g.29477703G>T | CA399189193 | TAOK1 | c.349G>T (p.Glu117Ter)
| gnomAD v4 |
17 | g.29477704A>C | CA399189200 | TAOK1 | c.350A>C (p.Glu117Ala)
| |
17 | g.29477704A>G | CA399189199 | TAOK1 | c.350A>G (p.Glu117Gly)
| ClinVar gnomAD v4 |
17 | g.29477704A>T | CA399189196 | TAOK1 | c.350A>T (p.Glu117Val)
| gnomAD v4 |
17 | g.29477705del | CA2636950361 | TAOK1 | c.351del (p.Val118PhefsTer11)
| gnomAD v4 |
17 | g.29477705A>C | CA399189201 | TAOK1 | c.351A>C (p.Glu117Asp)
| |
17 | g.29477705A>G | CA499308450 | TAOK1 | c.351A>G (p.Glu117=)
| gnomAD v4 |
17 | g.29477705A>T | CA399189202 | TAOK1 | c.351A>T (p.Glu117Asp)
| |
17 | g.29477706G>A | CA399189203 | TAOK1 | c.352G>A (p.Val118Ile)
| gnomAD v4 |
17 | g.29477706G>C | CA399189205 | TAOK1 | c.352G>C (p.Val118Leu)
| |
17 | g.29477706G>T | CA399189207 | TAOK1 | c.352G>T (p.Val118Phe)
| gnomAD v4 |
17 | g.29477706_29477707insTTCACAAAAAGCCATTACAAGAA | CA2636950362 | TAOK1 | c.352_352+1insTTCACAAAAAGCCATTACAAGAA (n.352_352+1insTTCACAAAAAGCCATTACAAGAA)
| gnomAD v4 |
17 | g.29477707G>A | CA399189208 | TAOK1 | c.352+1G>A (n.352+1G>A)
| gnomAD v4 |
17 | g.29477707G>C | CA399189210 | TAOK1 | c.352+1G>C (n.352+1G>C)
| gnomAD v4 |
17 | g.29477707G>T | CA399189212 | TAOK1 | c.352+1G>T (n.352+1G>T)
| gnomAD v4 |
17 | g.29477708T>A | CA399189214 | TAOK1 | c.352+2T>A (n.352+2T>A)
| |
17 | g.29477708T>C | CA399189215 | TAOK1 | c.352+2T>C (n.352+2T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.29477708T>G | CA399189216 | TAOK1 | c.352+2T>G (n.352+2T>G)
| |
17 | g.29477708T= | CA2254780496 | TAOK1 | c.352+2T= (n.352+2T=)
| |
17 | g.29477708_29477709insGGAAATAGCAGCAATTACAC | CA2636950364 | TAOK1 | c.352+2_352+3insGGAAATAGCAGCAATTACAC (n.352+2_352+3insGGAAATAGCAGCAATTACAC)
| gnomAD v4 |
17 | g.29477709A= | CA2254780498 | TAOK1 | c.352+3A= (n.352+3A=)
| |
17 | g.29477709A>C | CA2636950363 | TAOK1 | c.352+3A>C (n.352+3A>C)
| gnomAD v4 |
17 | g.29477709A>G | CA8474409 | TAOK1 | c.352+3A>G (n.352+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477710A= | CA2254780500 | TAOK1 | c.352+4A= (n.352+4A=)
| |
17 | g.29477710A>G | CA625668345 | TAOK1 | c.352+4A>G (n.352+4A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477710A>T | CA2636950365 | TAOK1 | c.352+4A>T (n.352+4A>T)
| gnomAD v4 |
17 | g.29477711G>T | CA2636950366 | TAOK1 | c.352+5G>T (n.352+5G>T)
| gnomAD v4 |
17 | g.29477712T>A | CA2636950367 | TAOK1 | c.352+6T>A (n.352+6T>A)
| gnomAD v4 |
17 | g.29477712T>C | CA2636950368 | TAOK1 | c.352+6T>C (n.352+6T>C)
| gnomAD v4 |
17 | g.29477713T>A | CA2636950369 | TAOK1 | c.352+7T>A (n.352+7T>A)
| gnomAD v4 |
17 | g.29477713T>C | CA2636950370 | TAOK1 | c.352+7T>C (n.352+7T>C)
| gnomAD v4 |
17 | g.29477714C>A | CA2636950373 | TAOK1 | c.352+8C>A (n.352+8C>A)
| gnomAD v4 |
17 | g.29477714C>G | CA2636950372 | TAOK1 | c.352+8C>G (n.352+8C>G)
| gnomAD v4 |
17 | g.29477714C>T | CA2636950371 | TAOK1 | c.352+8C>T (n.352+8C>T)
| gnomAD v4 |
17 | g.29477715C>A | CA2636950374 | TAOK1 | c.352+9C>A (n.352+9C>A)
| gnomAD v4 |
17 | g.29477715C>G | CA2636950375 | TAOK1 | c.352+9C>G (n.352+9C>G)
| gnomAD v4 |
17 | g.29477715C>T | CA2636950376 | TAOK1 | c.352+9C>T (n.352+9C>T)
| gnomAD v4 |
17 | g.29477716C>A | CA2636950377 | TAOK1 | c.352+10C>A (n.352+10C>A)
| gnomAD v4 |
17 | g.29477716C= | CA2254780502 | TAOK1 | c.352+10C= (n.352+10C=)
| |
17 | g.29477716C>G | CA727854212 | TAOK1 | c.352+10C>G (n.352+10C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.29477716C>T | CA8474410 | TAOK1 | c.352+10C>T (n.352+10C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477717T>A | CA2636950378 | TAOK1 | c.352+11T>A (n.352+11T>A)
| gnomAD v4 |
17 | g.29477717T>C | CA2636950379 | TAOK1 | c.352+11T>C (n.352+11T>C)
| gnomAD v4 |
17 | g.29477719del | CA2636950380 | TAOK1 | c.352+13del (n.352+13del)
| gnomAD v4 |
17 | g.29477718T>A | CA2636950381 | TAOK1 | c.352+12T>A (n.352+12T>A)
| gnomAD v4 |
17 | g.29477718T>C | CA2636950382 | TAOK1 | c.352+12T>C (n.352+12T>C)
| gnomAD v4 |
17 | g.29477718T>G | CA2636950383 | TAOK1 | c.352+12T>G (n.352+12T>G)
| gnomAD v4 |
17 | g.29477719T>C | CA2636950384 | TAOK1 | c.352+13T>C (n.352+13T>C)
| gnomAD v4 |
17 | g.29477720G>A | CA2636950385 | TAOK1 | c.352+14G>A (n.352+14G>A)
| gnomAD v4 |
17 | g.29477720G= | CA2254780505 | TAOK1 | c.352+14G= (n.352+14G=)
| |
17 | g.29477720G>T | CA289643143 | TAOK1 | c.352+14G>T (n.352+14G>T)
| dbSNP gnomAD v4 |
17 | g.29477721A= | CA2254780508 | TAOK1 | c.352+15A= (n.352+15A=)
| |
17 | g.29477721A>G | CA2636950386 | TAOK1 | c.352+15A>G (n.352+15A>G)
| gnomAD v4 |
17 | g.29477721A>T | CA289643144 | TAOK1 | c.352+15A>T (n.352+15A>T)
| dbSNP gnomAD v4 |
17 | g.29477722T>A | CA2576216220 | TAOK1 | c.352+16T>A (n.352+16T>A)
| gnomAD v4 |
17 | g.29477722T>C | CA2636950388 | TAOK1 | c.352+16T>C (n.352+16T>C)
| gnomAD v4 |
17 | g.29477723del | CA2636950387 | TAOK1 | c.352+17del (n.352+17del)
| gnomAD v4 |
17 | g.29477723T>C | CA2636950389 | TAOK1 | c.352+17T>C (n.352+17T>C)
| gnomAD v4 |
17 | g.29477724A= | CA2254780511 | TAOK1 | c.352+18A= (n.352+18A=)
| |
17 | g.29477724A>G | CA8474411 | TAOK1 | c.352+18A>G (n.352+18A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29477725T>C | CA2576216221 | TAOK1 | c.352+19T>C (n.352+19T>C)
| gnomAD v4 |
17 | g.29477730dup | CA2636950390 | TAOK1 | c.352+24dup (n.352+24dup)
| gnomAD v4 |
17 | g.29477730del | CA2636950391 | TAOK1 | c.352+24del (n.352+24del)
| gnomAD v4 |
17 | g.29477729_29477730del | CA2636950392 | TAOK1 | c.352+23_352+24del (n.352+23_352+24del)
| gnomAD v4 |
17 | g.29477726T>C | CA2636950393 | TAOK1 | c.352+20T>C (n.352+20T>C)
| gnomAD v4 |
17 | g.29477727T>A | CA2636950394 | TAOK1 | c.352+21T>A (n.352+21T>A)
| gnomAD v4 |
17 | g.29477727T>C | CA2636950395 | TAOK1 | c.352+21T>C (n.352+21T>C)
| gnomAD v4 |
17 | g.29477728T>C | CA2636950396 | TAOK1 | c.352+22T>C (n.352+22T>C)
| gnomAD v4 |
17 | g.29477729T>C | CA2636950397 | TAOK1 | c.352+23T>C (n.352+23T>C)
| gnomAD v4 |
17 | g.29477730T>A | CA727854218 | TAOK1 | c.352+24T>A (n.352+24T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.29477730T>C | CA2636950398 | TAOK1 | c.352+24T>C (n.352+24T>C)
| gnomAD v4 |
17 | g.29477730T= | CA2254780514 | TAOK1 | c.352+24T= (n.352+24T=)
| |
17 | g.29477730_29477731delinsTA | CA2254780513 | TAOK1 | c.352+24_352+25delinsTA (n.352+24_352+25delinsTA)
| |