Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.29534219G>A | CA398917288 | TAOK1 | c.2463G>A (p.Met821Ile) c.2019G>A (p.Met673Ile) | dbSNP |
17 | g.29534219G>C | CA398917286 | TAOK1 | c.2463G>C (p.Met821Ile) c.2019G>C (p.Met673Ile) | |
17 | g.29534219G= | CA2254807185 | TAOK1 | c.2463G= (p.Met821=) c.2019G= (p.Met673=) | |
17 | g.29534219G>T | CA398917287 | TAOK1 | c.2463G>T (p.Met821Ile) c.2019G>T (p.Met673Ile) | |
17 | g.29534220C>A | CA398917289 | TAOK1 | c.2464C>A (p.Gln822Lys) c.2020C>A (p.Gln674Lys) | |
17 | g.29534220C>G | CA398917290 | TAOK1 | c.2464C>G (p.Gln822Glu) c.2020C>G (p.Gln674Glu) | |
17 | g.29534220C>T | CA398917291 | TAOK1 | c.2464C>T (p.Gln822Ter) c.2020C>T (p.Gln674Ter) | |
17 | g.29534221A>C | CA398917292 | TAOK1 | c.2465A>C (p.Gln822Pro) c.2021A>C (p.Gln674Pro) | |
17 | g.29534221A>G | CA398917293 | TAOK1 | c.2465A>G (p.Gln822Arg) c.2021A>G (p.Gln674Arg) | |
17 | g.29534221A>T | CA398917294 | TAOK1 | c.2465A>T (p.Gln822Leu) c.2021A>T (p.Gln674Leu) | |
17 | g.29534222A= | CA2254807187 | TAOK1 | c.2466A= (p.Gln822=) c.2022A= (p.Gln674=) | |
17 | g.29534222A>C | CA398917295 | TAOK1 | c.2466A>C (p.Gln822His) c.2022A>C (p.Gln674His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534222A>G | CA499152420 | TAOK1 | c.2466A>G (p.Gln822=) c.2022A>G (p.Gln674=) | gnomAD v4 |
17 | g.29534222A>T | CA398917296 | TAOK1 | c.2466A>T (p.Gln822His) c.2022A>T (p.Gln674His) | gnomAD v4 |
17 | g.29534223G>A | CA398917297 | TAOK1 | c.2467G>A (p.Ala823Thr) c.2023G>A (p.Ala675Thr) | |
17 | g.29534223G>C | CA398917298 | TAOK1 | c.2467G>C (p.Ala823Pro) c.2023G>C (p.Ala675Pro) | |
17 | g.29534223G= | CA2254807189 | TAOK1 | c.2467G= (p.Ala823=) c.2023G= (p.Ala675=) | |
17 | g.29534223G>T | CA8474863 | TAOK1 | c.2467G>T (p.Ala823Ser) c.2023G>T (p.Ala675Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534224C>A | CA398917300 | TAOK1 | c.2468C>A (p.Ala823Asp) c.2024C>A (p.Ala675Asp) | |
17 | g.29534224C>G | CA398917301 | TAOK1 | c.2468C>G (p.Ala823Gly) c.2024C>G (p.Ala675Gly) | |
17 | g.29534224C>T | CA398917299 | TAOK1 | c.2468C>T (p.Ala823Val) c.2024C>T (p.Ala675Val) | |
17 | g.29534225T>A | CA499152422 | TAOK1 | c.2469T>A (p.Ala823=) c.2025T>A (p.Ala675=) | |
17 | g.29534225T>C | CA499152424 | TAOK1 | c.2469T>C (p.Ala823=) c.2025T>C (p.Ala675=) | |
17 | g.29534225T>G | CA499152423 | TAOK1 | c.2469T>G (p.Ala823=) c.2025T>G (p.Ala675=) | |
17 | g.29534226G>A | CA398917302 | TAOK1 | c.2470G>A (p.Glu824Lys) c.2026G>A (p.Glu676Lys) | |
17 | g.29534226G>C | CA398917303 | TAOK1 | c.2470G>C (p.Glu824Gln) c.2026G>C (p.Glu676Gln) | |
17 | g.29534226G>T | CA398917304 | TAOK1 | c.2470G>T (p.Glu824Ter) c.2026G>T (p.Glu676Ter) | |
17 | g.29534227A>C | CA398917305 | TAOK1 | c.2471A>C (p.Glu824Ala) c.2027A>C (p.Glu676Ala) | |
17 | g.29534227A>G | CA398917306 | TAOK1 | c.2471A>G (p.Glu824Gly) c.2027A>G (p.Glu676Gly) | |
17 | g.29534227A>T | CA398917307 | TAOK1 | c.2471A>T (p.Glu824Val) c.2027A>T (p.Glu676Val) | |
17 | g.29534228G>A | CA499152426 | TAOK1 | c.2472G>A (p.Glu824=) c.2028G>A (p.Glu676=) | |
17 | g.29534228G>C | CA398917308 | TAOK1 | c.2472G>C (p.Glu824Asp) c.2028G>C (p.Glu676Asp) | |
17 | g.29534228G>T | CA398917309 | TAOK1 | c.2472G>T (p.Glu824Asp) c.2028G>T (p.Glu676Asp) | |
17 | g.29534229G>A | CA398917310 | TAOK1 | c.2473G>A (p.Ala825Thr) c.2029G>A (p.Ala677Thr) | |
17 | g.29534229G>C | CA398917311 | TAOK1 | c.2473G>C (p.Ala825Pro) c.2029G>C (p.Ala677Pro) | |
17 | g.29534229G>T | CA398917312 | TAOK1 | c.2473G>T (p.Ala825Ser) c.2029G>T (p.Ala677Ser) | |
17 | g.29534230C>A | CA398917313 | TAOK1 | c.2474C>A (p.Ala825Glu) c.2030C>A (p.Ala677Glu) | |
17 | g.29534230C>G | CA398917314 | TAOK1 | c.2474C>G (p.Ala825Gly) c.2030C>G (p.Ala677Gly) | |
17 | g.29534230C>T | CA398917315 | TAOK1 | c.2474C>T (p.Ala825Val) c.2030C>T (p.Ala677Val) | dbSNP |
17 | g.29534232_29534236del | CA982841817 | TAOK1 | c.2476_2480del (p.Gln826Ter) c.2032_2036del (p.Gln678Ter) | gnomAD v3 gnomAD v4 |
17 | g.29534231A= | CA2254807193 | TAOK1 | c.2475A= (p.Ala825=) c.2031A= (p.Ala677=) | |
17 | g.29534231A>C | CA499152428 | TAOK1 | c.2475A>C (p.Ala825=) c.2031A>C (p.Ala677=) | |
17 | g.29534231A>G | CA8474864 | TAOK1 | c.2475A>G (p.Ala825=) c.2031A>G (p.Ala677=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534231A>T | CA499152429 | TAOK1 | c.2475A>T (p.Ala825=) c.2031A>T (p.Ala677=) | |
17 | g.29534232C>A | CA398917316 | TAOK1 | c.2476C>A (p.Gln826Lys) c.2032C>A (p.Gln678Lys) | |
17 | g.29534232C>G | CA398917317 | TAOK1 | c.2476C>G (p.Gln826Glu) c.2032C>G (p.Gln678Glu) | |
17 | g.29534232C>T | CA398917318 | TAOK1 | c.2476C>T (p.Gln826Ter) c.2032C>T (p.Gln678Ter) | |
17 | g.29534233A>C | CA398917319 | TAOK1 | c.2477A>C (p.Gln826Pro) c.2033A>C (p.Gln678Pro) | |
17 | g.29534233A>G | CA398917320 | TAOK1 | c.2477A>G (p.Gln826Arg) c.2033A>G (p.Gln678Arg) | |
17 | g.29534233A>T | CA398917321 | TAOK1 | c.2477A>T (p.Gln826Leu) c.2033A>T (p.Gln678Leu) | |
17 | g.29534234A= | CA2254807196 | TAOK1 | c.2478A= (p.Gln826=) c.2034A= (p.Gln678=) | |
17 | g.29534234A>C | CA398917322 | TAOK1 | c.2478A>C (p.Gln826His) c.2034A>C (p.Gln678His) | |
17 | g.29534234A>G | CA499152431 | TAOK1 | c.2478A>G (p.Gln826=) c.2034A>G (p.Gln678=) | dbSNP gnomAD v2 |
17 | g.29534234A>T | CA8474865 | TAOK1 | c.2478A>T (p.Gln826His) c.2034A>T (p.Gln678His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534235C>A | CA398917323 | TAOK1 | c.2479C>A (p.His827Asn) c.2035C>A (p.His679Asn) | |
17 | g.29534235C>G | CA398917324 | TAOK1 | c.2479C>G (p.His827Asp) c.2035C>G (p.His679Asp) | |
17 | g.29534235C>T | CA398917325 | TAOK1 | c.2479C>T (p.His827Tyr) c.2035C>T (p.His679Tyr) | gnomAD v4 |
17 | g.29534236A>C | CA398917326 | TAOK1 | c.2480A>C (p.His827Pro) c.2036A>C (p.His679Pro) | gnomAD v4 |
17 | g.29534236A>G | CA398917327 | TAOK1 | c.2480A>G (p.His827Arg) c.2036A>G (p.His679Arg) | gnomAD v4 |
17 | g.29534236A>T | CA398917328 | TAOK1 | c.2480A>T (p.His827Leu) c.2036A>T (p.His679Leu) | |
17 | g.29534237T>A | CA398917329 | TAOK1 | c.2481T>A (p.His827Gln) c.2037T>A (p.His679Gln) | gnomAD v4 |
17 | g.29534237T>C | CA499152432 | TAOK1 | c.2481T>C (p.His827=) c.2037T>C (p.His679=) | |
17 | g.29534237T>G | CA398917330 | TAOK1 | c.2481T>G (p.His827Gln) c.2037T>G (p.His679Gln) | |
17 | g.29534238G>A | CA398917331 | TAOK1 | c.2482G>A (p.Asp828Asn) c.2038G>A (p.Asp680Asn) | |
17 | g.29534238G>C | CA398917333 | TAOK1 | c.2482G>C (p.Asp828His) c.2038G>C (p.Asp680His) | |
17 | g.29534238G>T | CA398917332 | TAOK1 | c.2482G>T (p.Asp828Tyr) c.2038G>T (p.Asp680Tyr) | |
17 | g.29534239A>C | CA398917334 | TAOK1 | c.2483A>C (p.Asp828Ala) c.2039A>C (p.Asp680Ala) | |
17 | g.29534239A>G | CA398917335 | TAOK1 | c.2483A>G (p.Asp828Gly) c.2039A>G (p.Asp680Gly) | |
17 | g.29534239A>T | CA398917336 | TAOK1 | c.2483A>T (p.Asp828Val) c.2039A>T (p.Asp680Val) | gnomAD v4 |
17 | g.29534240T>A | CA398917337 | TAOK1 | c.2484T>A (p.Asp828Glu) c.2040T>A (p.Asp680Glu) | |
17 | g.29534240T>C | CA8474866 | TAOK1 | c.2484T>C (p.Asp828=) c.2040T>C (p.Asp680=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534240T>G | CA398917338 | TAOK1 | c.2484T>G (p.Asp828Glu) c.2040T>G (p.Asp680Glu) | |
17 | g.29534240T= | CA2254807198 | TAOK1 | c.2484T= (p.Asp828=) c.2040T= (p.Asp680=) | |
17 | g.29534241C>A | CA499152434 | TAOK1 | c.2485C>A (p.Arg829=) c.2041C>A (p.Arg681=) | gnomAD v4 |
17 | g.29534241C= | CA2254807201 | TAOK1 | c.2485C= (p.Arg829=) c.2041C= (p.Arg681=) | |
17 | g.29534241C>G | CA398917339 | TAOK1 | c.2485C>G (p.Arg829Gly) c.2041C>G (p.Arg681Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534241C>T | CA398917340 | TAOK1 | c.2485C>T (p.Arg829Ter) c.2041C>T (p.Arg681Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.29534242G>A | CA8474867 | TAOK1 | c.2486G>A (p.Arg829Gln) c.2042G>A (p.Arg681Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534242G>C | CA398917341 | TAOK1 | c.2486G>C (p.Arg829Pro) c.2042G>C (p.Arg681Pro) | |
17 | g.29534242G= | CA2254807207 | TAOK1 | c.2486G= (p.Arg829=) c.2042G= (p.Arg681=) | |
17 | g.29534242G>T | CA398917342 | TAOK1 | c.2486G>T (p.Arg829Leu) c.2042G>T (p.Arg681Leu) | |
17 | g.29534243A>C | CA499152438 | TAOK1 | c.2487A>C (p.Arg829=) c.2043A>C (p.Arg681=) | |
17 | g.29534243A>G | CA499152439 | TAOK1 | c.2487A>G (p.Arg829=) c.2043A>G (p.Arg681=) | |
17 | g.29534243A>T | CA499152440 | TAOK1 | c.2487A>T (p.Arg829=) c.2043A>T (p.Arg681=) | |
17 | g.29534244G>A | CA398917345 | TAOK1 | c.2488G>A (p.Glu830Lys) c.2044G>A (p.Glu682Lys) | |
17 | g.29534244G>C | CA398917344 | TAOK1 | c.2488G>C (p.Glu830Gln) c.2044G>C (p.Glu682Gln) | |
17 | g.29534244G>T | CA398917343 | TAOK1 | c.2488G>T (p.Glu830Ter) c.2044G>T (p.Glu682Ter) | ClinVar dbSNP |
17 | g.29534245A>C | CA398917346 | TAOK1 | c.2489A>C (p.Glu830Ala) c.2045A>C (p.Glu682Ala) | |
17 | g.29534245A>G | CA398917347 | TAOK1 | c.2489A>G (p.Glu830Gly) c.2045A>G (p.Glu682Gly) | |
17 | g.29534245A>T | CA398917348 | TAOK1 | c.2489A>T (p.Glu830Val) c.2045A>T (p.Glu682Val) | |
17 | g.29534246G>A | CA8474868 | TAOK1 | c.2490G>A (p.Glu830=) c.2046G>A (p.Glu682=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534246G>C | CA398917349 | TAOK1 | c.2490G>C (p.Glu830Asp) c.2046G>C (p.Glu682Asp) | |
17 | g.29534246G= | CA2254807210 | TAOK1 | c.2490G= (p.Glu830=) c.2046G= (p.Glu682=) | |
17 | g.29534246G>T | CA398917350 | TAOK1 | c.2490G>T (p.Glu830Asp) c.2046G>T (p.Glu682Asp) | |
17 | g.29534247C>A | CA398917351 | TAOK1 | c.2491C>A (p.Leu831Ile) c.2047C>A (p.Leu683Ile) | |
17 | g.29534247C>G | CA398917352 | TAOK1 | c.2491C>G (p.Leu831Val) c.2047C>G (p.Leu683Val) | |
17 | g.29534247C>T | CA398917353 | TAOK1 | c.2491C>T (p.Leu831Phe) c.2047C>T (p.Leu683Phe) | |
17 | g.29534248T>A | CA398917354 | TAOK1 | c.2492T>A (p.Leu831His) c.2048T>A (p.Leu683His) | |
17 | g.29534248T>C | CA398917355 | TAOK1 | c.2492T>C (p.Leu831Pro) c.2048T>C (p.Leu683Pro) | |
17 | g.29534248T>G | CA398917356 | TAOK1 | c.2492T>G (p.Leu831Arg) c.2048T>G (p.Leu683Arg) | |
17 | g.29534249T>A | CA499152442 | TAOK1 | c.2493T>A (p.Leu831=) c.2049T>A (p.Leu683=) | |
17 | g.29534249T>C | CA499152443 | TAOK1 | c.2493T>C (p.Leu831=) c.2049T>C (p.Leu683=) | |
17 | g.29534249T>G | CA499152444 | TAOK1 | c.2493T>G (p.Leu831=) c.2049T>G (p.Leu683=) | |
17 | g.29534250C>A | CA398917358 | TAOK1 | c.2494C>A (p.Arg832Ser) c.2050C>A (p.Arg684Ser) | |
17 | g.29534250C= | CA2254807213 | TAOK1 | c.2494C= (p.Arg832=) c.2050C= (p.Arg684=) | |
17 | g.29534250C>G | CA398917357 | TAOK1 | c.2494C>G (p.Arg832Gly) c.2050C>G (p.Arg684Gly) | gnomAD v4 |
17 | g.29534250C>T | CA8474869 | TAOK1 | c.2494C>T (p.Arg832Cys) c.2050C>T (p.Arg684Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534251G>A | CA8474870 | TAOK1 | c.2495G>A (p.Arg832His) c.2051G>A (p.Arg684His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.29534251G>C | CA398917359 | TAOK1 | c.2495G>C (p.Arg832Pro) c.2051G>C (p.Arg684Pro) | |
17 | g.29534251G= | CA2254807216 | TAOK1 | c.2495G= (p.Arg832=) c.2051G= (p.Arg684=) | |
17 | g.29534251G>T | CA398917360 | TAOK1 | c.2495G>T (p.Arg832Leu) c.2051G>T (p.Arg684Leu) | |
17 | g.29534252C>A | CA499152449 | TAOK1 | c.2496C>A (p.Arg832=) c.2052C>A (p.Arg684=) | |
17 | g.29534252C= | CA2254807221 | TAOK1 | c.2496C= (p.Arg832=) c.2052C= (p.Arg684=) | |
17 | g.29534252C>G | CA499152450 | TAOK1 | c.2496C>G (p.Arg832=) c.2052C>G (p.Arg684=) | |
17 | g.29534252C>T | CA8474871 | TAOK1 | c.2496C>T (p.Arg832=) c.2052C>T (p.Arg684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534253G>A | CA398917361 | TAOK1 | c.2497G>A (p.Glu833Lys) c.2053G>A (p.Glu685Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.29534253G>C | CA398917362 | TAOK1 | c.2497G>C (p.Glu833Gln) c.2053G>C (p.Glu685Gln) | |
17 | g.29534253G= | CA2254807226 | TAOK1 | c.2497G= (p.Glu833=) c.2053G= (p.Glu685=) | |
17 | g.29534253G>T | CA398917363 | TAOK1 | c.2497G>T (p.Glu833Ter) c.2053G>T (p.Glu685Ter) | |
17 | g.29534254A>C | CA398917364 | TAOK1 | c.2498A>C (p.Glu833Ala) c.2054A>C (p.Glu685Ala) | |
17 | g.29534254A>G | CA398917365 | TAOK1 | c.2498A>G (p.Glu833Gly) c.2054A>G (p.Glu685Gly) | |
17 | g.29534254A>T | CA398917366 | TAOK1 | c.2498A>T (p.Glu833Val) c.2054A>T (p.Glu685Val) | |
17 | g.29534255G>A | CA499152452 | TAOK1 | c.2499G>A (p.Glu833=) c.2055G>A (p.Glu685=) | |
17 | g.29534255G>C | CA398917367 | TAOK1 | c.2499G>C (p.Glu833Asp) c.2055G>C (p.Glu685Asp) | |
17 | g.29534255G>T | CA398917368 | TAOK1 | c.2499G>T (p.Glu833Asp) c.2055G>T (p.Glu685Asp) | |
17 | g.29534256C>A | CA398917371 | TAOK1 | c.2500C>A (p.Leu834Ile) c.2056C>A (p.Leu686Ile) | |
17 | g.29534256C= | CA2254807229 | TAOK1 | c.2500C= (p.Leu834=) c.2056C= (p.Leu686=) | |
17 | g.29534256C>G | CA398917370 | TAOK1 | c.2500C>G (p.Leu834Val) c.2056C>G (p.Leu686Val) | dbSNP |
17 | g.29534256C>T | CA398917369 | TAOK1 | c.2500C>T (p.Leu834Phe) c.2056C>T (p.Leu686Phe) | |
17 | g.29534257T>A | CA398917372 | TAOK1 | c.2501T>A (p.Leu834His) c.2057T>A (p.Leu686His) | |
17 | g.29534257T>C | CA398917373 | TAOK1 | c.2501T>C (p.Leu834Pro) c.2057T>C (p.Leu686Pro) | |
17 | g.29534257T>G | CA398917374 | TAOK1 | c.2501T>G (p.Leu834Arg) c.2057T>G (p.Leu686Arg) | |
17 | g.29534258T>A | CA499152456 | TAOK1 | c.2502T>A (p.Leu834=) c.2058T>A (p.Leu686=) | |
17 | g.29534258T>C | CA499152455 | TAOK1 | c.2502T>C (p.Leu834=) c.2058T>C (p.Leu686=) | |
17 | g.29534258T>G | CA499152454 | TAOK1 | c.2502T>G (p.Leu834=) c.2058T>G (p.Leu686=) | |
17 | g.29534259G>A | CA398917375 | TAOK1 | c.2503G>A (p.Glu835Lys) c.2059G>A (p.Glu687Lys) | |
17 | g.29534259G>C | CA398917376 | TAOK1 | c.2503G>C (p.Glu835Gln) c.2059G>C (p.Glu687Gln) | |
17 | g.29534259G>T | CA398917377 | TAOK1 | c.2503G>T (p.Glu835Ter) c.2059G>T (p.Glu687Ter) | ClinVar dbSNP |
17 | g.29534260A>C | CA398917378 | TAOK1 | c.2504A>C (p.Glu835Ala) c.2060A>C (p.Glu687Ala) | |
17 | g.29534260A>G | CA398917379 | TAOK1 | c.2504A>G (p.Glu835Gly) c.2060A>G (p.Glu687Gly) | |
17 | g.29534260A>T | CA398917380 | TAOK1 | c.2504A>T (p.Glu835Val) c.2060A>T (p.Glu687Val) | |
17 | g.29534261A= | CA2254807232 | TAOK1 | c.2505A= (p.Glu835=) c.2061A= (p.Glu687=) | |
17 | g.29534261A>C | CA398917381 | TAOK1 | c.2505A>C (p.Glu835Asp) c.2061A>C (p.Glu687Asp) | |
17 | g.29534261A>G | CA8474872 | TAOK1 | c.2505A>G (p.Glu835=) c.2061A>G (p.Glu687=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534261A>T | CA398917382 | TAOK1 | c.2505A>T (p.Glu835Asp) c.2061A>T (p.Glu687Asp) | |
17 | g.29534262C>A | CA398917385 | TAOK1 | c.2506C>A (p.Gln836Lys) c.2062C>A (p.Gln688Lys) | |
17 | g.29534262C>G | CA398917384 | TAOK1 | c.2506C>G (p.Gln836Glu) c.2062C>G (p.Gln688Glu) | |
17 | g.29534262C>T | CA398917383 | TAOK1 | c.2506C>T (p.Gln836Ter) c.2062C>T (p.Gln688Ter) | |
17 | g.29534263A>C | CA398917386 | TAOK1 | c.2507A>C (p.Gln836Pro) c.2063A>C (p.Gln688Pro) | |
17 | g.29534263A>G | CA398917388 | TAOK1 | c.2507A>G (p.Gln836Arg) c.2063A>G (p.Gln688Arg) | |
17 | g.29534263A>T | CA398917387 | TAOK1 | c.2507A>T (p.Gln836Leu) c.2063A>T (p.Gln688Leu) | |
17 | g.29534264G>A | CA499152462 | TAOK1 | c.2508G>A (p.Gln836=) c.2064G>A (p.Gln688=) | |
17 | g.29534264G>C | CA289202119 | TAOK1 | c.2508G>C (p.Gln836His) c.2064G>C (p.Gln688His) | dbSNP |
17 | g.29534264G= | CA2254807235 | TAOK1 | c.2508G= (p.Gln836=) c.2064G= (p.Gln688=) | |
17 | g.29534264G>T | CA398917389 | TAOK1 | c.2508G>T (p.Gln836His) c.2064G>T (p.Gln688His) | |
17 | g.29534265A>C | CA499152464 | TAOK1 | c.2509A>C (p.Arg837=) c.2065A>C (p.Arg689=) | |
17 | g.29534265A>G | CA398917390 | TAOK1 | c.2509A>G (p.Arg837Gly) c.2065A>G (p.Arg689Gly) | |
17 | g.29534265A>T | CA398917391 | TAOK1 | c.2509A>T (p.Arg837Trp) c.2065A>T (p.Arg689Trp) | |
17 | g.29534266G>A | CA398917392 | TAOK1 | c.2510G>A (p.Arg837Lys) c.2066G>A (p.Arg689Lys) | gnomAD v3 gnomAD v4 |
17 | g.29534266G>C | CA398917393 | TAOK1 | c.2510G>C (p.Arg837Thr) c.2066G>C (p.Arg689Thr) | |
17 | g.29534266G>T | CA398917394 | TAOK1 | c.2510G>T (p.Arg837Met) c.2066G>T (p.Arg689Met) | |
17 | g.29534267G>A | CA8474873 | TAOK1 | c.2511G>A (p.Arg837=) c.2067G>A (p.Arg689=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534267G>C | CA398917395 | TAOK1 | c.2511G>C (p.Arg837Ser) c.2067G>C (p.Arg689Ser) | |
17 | g.29534267G= | CA2254807238 | TAOK1 | c.2511G= (p.Arg837=) c.2067G= (p.Arg689=) | |
17 | g.29534267G>T | CA398917396 | TAOK1 | c.2511G>T (p.Arg837Ser) c.2067G>T (p.Arg689Ser) | |
17 | g.29534268G>A | CA398917397 | TAOK1 | c.2512G>A (p.Val838Ile) c.2068G>A (p.Val690Ile) | |
17 | g.29534268G>C | CA398917398 | TAOK1 | c.2512G>C (p.Val838Leu) c.2068G>C (p.Val690Leu) | |
17 | g.29534268G>T | CA398917399 | TAOK1 | c.2512G>T (p.Val838Phe) c.2068G>T (p.Val690Phe) | gnomAD v4 |
17 | g.29534268_29534271dup | CA8474874 | TAOK1 | c.2512_2515dup (p.Ser839CysfsTer13) c.2068_2071dup (p.Ser691CysfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.29534269T>A | CA398917402 | TAOK1 | c.2513T>A (p.Val838Asp) c.2069T>A (p.Val690Asp) | |
17 | g.29534269T>C | CA398917400 | TAOK1 | c.2513T>C (p.Val838Ala) c.2069T>C (p.Val690Ala) | |
17 | g.29534269T>G | CA398917401 | TAOK1 | c.2513T>G (p.Val838Gly) c.2069T>G (p.Val690Gly) | |
17 | g.29534270C>A | CA499152468 | TAOK1 | c.2514C>A (p.Val838=) c.2070C>A (p.Val690=) | |
17 | g.29534270C>G | CA499152469 | TAOK1 | c.2514C>G (p.Val838=) c.2070C>G (p.Val690=) | |
17 | g.29534270C>T | CA499152470 | TAOK1 | c.2514C>T (p.Val838=) c.2070C>T (p.Val690=) | gnomAD v4 |
17 | g.29534271T>A | CA398917403 | TAOK1 | c.2515T>A (p.Ser839Thr) c.2071T>A (p.Ser691Thr) | |
17 | g.29534271T>C | CA398917404 | TAOK1 | c.2515T>C (p.Ser839Pro) c.2071T>C (p.Ser691Pro) | |
17 | g.29534271T>G | CA398917405 | TAOK1 | c.2515T>G (p.Ser839Ala) c.2071T>G (p.Ser691Ala) | |
17 | g.29534272C>A | CA398917406 | TAOK1 | c.2516C>A (p.Ser839Tyr) c.2072C>A (p.Ser691Tyr) | |
17 | g.29534272C>G | CA398917407 | TAOK1 | c.2516C>G (p.Ser839Cys) c.2072C>G (p.Ser691Cys) | dbSNP |
17 | g.29534272C>T | CA398917408 | TAOK1 | c.2516C>T (p.Ser839Phe) c.2072C>T (p.Ser691Phe) | |
17 | g.29534273C>A | CA499152477 | TAOK1 | c.2517C>A (p.Ser839=) c.2073C>A (p.Ser691=) | gnomAD v4 |
17 | g.29534273C>G | CA499152475 | TAOK1 | c.2517C>G (p.Ser839=) c.2073C>G (p.Ser691=) | |
17 | g.29534273C>T | CA499152476 | TAOK1 | c.2517C>T (p.Ser839=) c.2073C>T (p.Ser691=) | |
17 | g.29534274C>A | CA398917409 | TAOK1 | c.2518C>A (p.Leu840Ile) c.2074C>A (p.Leu692Ile) | gnomAD v4 |
17 | g.29534274C= | CA2254807243 | TAOK1 | c.2518C= (p.Leu840=) c.2074C= (p.Leu692=) | |
17 | g.29534274C>G | CA398917410 | TAOK1 | c.2518C>G (p.Leu840Val) c.2074C>G (p.Leu692Val) | |
17 | g.29534274C>T | CA398917411 | TAOK1 | c.2518C>T (p.Leu840Phe) c.2074C>T (p.Leu692Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534275T>A | CA398917412 | TAOK1 | c.2519T>A (p.Leu840His) c.2075T>A (p.Leu692His) | |
17 | g.29534275T>C | CA398917413 | TAOK1 | c.2519T>C (p.Leu840Pro) c.2075T>C (p.Leu692Pro) | |
17 | g.29534275T>G | CA398917414 | TAOK1 | c.2519T>G (p.Leu840Arg) c.2075T>G (p.Leu692Arg) | |
17 | g.29534276C>A | CA499152481 | TAOK1 | c.2520C>A (p.Leu840=) c.2076C>A (p.Leu692=) | |
17 | g.29534276C= | CA2254807249 | TAOK1 | c.2520C= (p.Leu840=) c.2076C= (p.Leu692=) | |
17 | g.29534276C>G | CA499152482 | TAOK1 | c.2520C>G (p.Leu840=) c.2076C>G (p.Leu692=) | dbSNP gnomAD v4 |
17 | g.29534276C>T | CA499152483 | TAOK1 | c.2520C>T (p.Leu840=) c.2076C>T (p.Leu692=) | dbSNP |
17 | g.29534277C>A | CA499152484 | TAOK1 | c.2521C>A (p.Arg841=) c.2077C>A (p.Arg693=) | gnomAD v4 |
17 | g.29534277C= | CA2254807251 | TAOK1 | c.2521C= (p.Arg841=) c.2077C= (p.Arg693=) | |
17 | g.29534277C>G | CA398917415 | TAOK1 | c.2521C>G (p.Arg841Gly) c.2077C>G (p.Arg693Gly) | |
17 | g.29534277C>T | CA8474875 | TAOK1 | c.2521C>T (p.Arg841Trp) c.2077C>T (p.Arg693Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534278G>A | CA398917416 | TAOK1 | c.2522G>A (p.Arg841Gln) c.2078G>A (p.Arg693Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.29534278G>C | CA398917417 | TAOK1 | c.2522G>C (p.Arg841Pro) c.2078G>C (p.Arg693Pro) | COSMIC |
17 | g.29534278G= | CA2254807252 | TAOK1 | c.2522G= (p.Arg841=) c.2078G= (p.Arg693=) | |
17 | g.29534278G>T | CA398917418 | TAOK1 | c.2522G>T (p.Arg841Leu) c.2078G>T (p.Arg693Leu) | |
17 | g.29534279G>A | CA499152486 | TAOK1 | c.2523G>A (p.Arg841=) c.2079G>A (p.Arg693=) | |
17 | g.29534279G>C | CA499152488 | TAOK1 | c.2523G>C (p.Arg841=) c.2079G>C (p.Arg693=) | |
17 | g.29534279G>T | CA499152487 | TAOK1 | c.2523G>T (p.Arg841=) c.2079G>T (p.Arg693=) | |
17 | g.29534280A= | CA2254807254 | TAOK1 | c.2524A= (p.Arg842=) c.2080A= (p.Arg694=) | |
17 | g.29534280A>C | CA289202140 | TAOK1 | c.2524A>C (p.Arg842=) c.2080A>C (p.Arg694=) | dbSNP gnomAD v4 |
17 | g.29534280A>G | CA398917419 | TAOK1 | c.2524A>G (p.Arg842Gly) c.2080A>G (p.Arg694Gly) | |
17 | g.29534280A>T | CA398917420 | TAOK1 | c.2524A>T (p.Arg842Trp) c.2080A>T (p.Arg694Trp) | |
17 | g.29534281G>A | CA398917421 | TAOK1 | c.2525G>A (p.Arg842Lys) c.2081G>A (p.Arg694Lys) | |
17 | g.29534281G>C | CA398917422 | TAOK1 | c.2525G>C (p.Arg842Thr) c.2081G>C (p.Arg694Thr) | |
17 | g.29534281G>T | CA398917423 | TAOK1 | c.2525G>T (p.Arg842Met) c.2081G>T (p.Arg694Met) | |
17 | g.29534283del | CA2636955644 | TAOK1 | c.2527del (p.Ala843HisfsTer3) c.2083del (p.Ala695HisfsTer3) | gnomAD v4 |
17 | g.29534282G>A | CA499152489 | TAOK1 | c.2526G>A (p.Arg842=) c.2082G>A (p.Arg694=) | |
17 | g.29534282G>C | CA398917424 | TAOK1 | c.2526G>C (p.Arg842Ser) c.2082G>C (p.Arg694Ser) | |
17 | g.29534282G>T | CA398917425 | TAOK1 | c.2526G>T (p.Arg842Ser) c.2082G>T (p.Arg694Ser) | |
17 | g.29534283G>A | CA398917426 | TAOK1 | c.2527G>A (p.Ala843Thr) c.2083G>A (p.Ala695Thr) | gnomAD v4 |
17 | g.29534283G>C | CA398917427 | TAOK1 | c.2527G>C (p.Ala843Pro) c.2083G>C (p.Ala695Pro) | |
17 | g.29534283G>T | CA398917428 | TAOK1 | c.2527G>T (p.Ala843Ser) c.2083G>T (p.Ala695Ser) | COSMIC |
17 | g.29534284C>A | CA398917429 | TAOK1 | c.2528C>A (p.Ala843Glu) c.2084C>A (p.Ala695Glu) | gnomAD v4 |
17 | g.29534284C>G | CA398917431 | TAOK1 | c.2528C>G (p.Ala843Gly) c.2084C>G (p.Ala695Gly) | |
17 | g.29534284C>T | CA398917430 | TAOK1 | c.2528C>T (p.Ala843Val) c.2084C>T (p.Ala695Val) | |
17 | g.29534285A>C | CA499152490 | TAOK1 | c.2529A>C (p.Ala843=) c.2085A>C (p.Ala695=) | |
17 | g.29534285A>G | CA499152492 | TAOK1 | c.2529A>G (p.Ala843=) c.2085A>G (p.Ala695=) | gnomAD v4 |
17 | g.29534285A>T | CA499152491 | TAOK1 | c.2529A>T (p.Ala843=) c.2085A>T (p.Ala695=) | |
17 | g.29534286C>A | CA398917432 | TAOK1 | c.2530C>A (p.Leu844Ile) c.2086C>A (p.Leu696Ile) | gnomAD v4 |
17 | g.29534286C>G | CA398917433 | TAOK1 | c.2530C>G (p.Leu844Val) c.2086C>G (p.Leu696Val) | COSMIC |
17 | g.29534286C>T | CA398917434 | TAOK1 | c.2530C>T (p.Leu844Phe) c.2086C>T (p.Leu696Phe) | |
17 | g.29534287T>A | CA398917435 | TAOK1 | c.2531T>A (p.Leu844His) c.2087T>A (p.Leu696His) | ClinVar |
17 | g.29534287T>C | CA398917436 | TAOK1 | c.2531T>C (p.Leu844Pro) c.2087T>C (p.Leu696Pro) | gnomAD v4 |
17 | g.29534287T>G | CA398917437 | TAOK1 | c.2531T>G (p.Leu844Arg) c.2087T>G (p.Leu696Arg) | |
17 | g.29534288C>A | CA499152493 | TAOK1 | c.2532C>A (p.Leu844=) c.2088C>A (p.Leu696=) | |
17 | g.29534288C>G | CA499152494 | TAOK1 | c.2532C>G (p.Leu844=) c.2088C>G (p.Leu696=) | |
17 | g.29534288C>T | CA499152495 | TAOK1 | c.2532C>T (p.Leu844=) c.2088C>T (p.Leu696=) | |
17 | g.29534289T>A | CA8474876 | TAOK1 | c.2533T>A (p.Leu845Ile) c.2089T>A (p.Leu697Ile) | dbSNP ExAC gnomAD v2 |
17 | g.29534289T>C | CA499152496 | TAOK1 | c.2533T>C (p.Leu845=) c.2089T>C (p.Leu697=) | |
17 | g.29534289T>G | CA398917438 | TAOK1 | c.2533T>G (p.Leu845Val) c.2089T>G (p.Leu697Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534289T= | CA2254807256 | TAOK1 | c.2533T= (p.Leu845=) c.2089T= (p.Leu697=) | |
17 | g.29534290T>A | CA398917439 | TAOK1 | c.2534T>A (p.Leu845Ter) c.2090T>A (p.Leu697Ter) | |
17 | g.29534290T>C | CA398917440 | TAOK1 | c.2534T>C (p.Leu845Ser) c.2090T>C (p.Leu697Ser) | gnomAD v4 |
17 | g.29534290T>G | CA398917441 | TAOK1 | c.2534T>G (p.Leu845Ter) c.2090T>G (p.Leu697Ter) | |
17 | g.29534291A>C | CA398917443 | TAOK1 | c.2535A>C (p.Leu845Phe) c.2091A>C (p.Leu697Phe) | |
17 | g.29534291A>G | CA499152497 | TAOK1 | c.2535A>G (p.Leu845=) c.2091A>G (p.Leu697=) | |
17 | g.29534291A>T | CA398917442 | TAOK1 | c.2535A>T (p.Leu845Phe) c.2091A>T (p.Leu697Phe) | |
17 | g.29534292G>A | CA398917444 | TAOK1 | c.2536G>A (p.Glu846Lys) c.2092G>A (p.Glu698Lys) | |
17 | g.29534292G>C | CA398917446 | TAOK1 | c.2536G>C (p.Glu846Gln) c.2092G>C (p.Glu698Gln) | |
17 | g.29534292G>T | CA398917445 | TAOK1 | c.2536G>T (p.Glu846Ter) c.2092G>T (p.Glu698Ter) | |
17 | g.29534293A>C | CA398917447 | TAOK1 | c.2537A>C (p.Glu846Ala) c.2093A>C (p.Glu698Ala) | |
17 | g.29534293A>G | CA398917448 | TAOK1 | c.2537A>G (p.Glu846Gly) c.2093A>G (p.Glu698Gly) | |
17 | g.29534293A>T | CA398917449 | TAOK1 | c.2537A>T (p.Glu846Val) c.2093A>T (p.Glu698Val) | |
17 | g.29534294A>C | CA398917450 | TAOK1 | c.2538A>C (p.Glu846Asp) c.2094A>C (p.Glu698Asp) | |
17 | g.29534294A>G | CA499152498 | TAOK1 | c.2538A>G (p.Glu846=) c.2094A>G (p.Glu698=) | |
17 | g.29534294A>T | CA398917451 | TAOK1 | c.2538A>T (p.Glu846Asp) c.2094A>T (p.Glu698Asp) | COSMIC |
17 | g.29534295C>A | CA398917452 | TAOK1 | c.2539C>A (p.Gln847Lys) c.2095C>A (p.Gln699Lys) | |
17 | g.29534295C>G | CA398917453 | TAOK1 | c.2539C>G (p.Gln847Glu) c.2095C>G (p.Gln699Glu) | |
17 | g.29534295C>T | CA398917454 | TAOK1 | c.2539C>T (p.Gln847Ter) c.2095C>T (p.Gln699Ter) | |
17 | g.29534296A>C | CA398917455 | TAOK1 | c.2540A>C (p.Gln847Pro) c.2096A>C (p.Gln699Pro) | |
17 | g.29534296A>G | CA398917456 | TAOK1 | c.2540A>G (p.Gln847Arg) c.2096A>G (p.Gln699Arg) | |
17 | g.29534296A>T | CA398917457 | TAOK1 | c.2540A>T (p.Gln847Leu) c.2096A>T (p.Gln699Leu) | |
17 | g.29534299del | CA2636955645 | TAOK1 | c.2543del (p.Lys848ArgfsTer?) c.2099del (p.Lys700ArgfsTer?) | gnomAD v4 |
17 | g.29534297A>C | CA398917458 | TAOK1 | c.2541A>C (p.Gln847His) c.2097A>C (p.Gln699His) | |
17 | g.29534297A>G | CA499152499 | TAOK1 | c.2541A>G (p.Gln847=) c.2097A>G (p.Gln699=) | |
17 | g.29534297A>T | CA398917459 | TAOK1 | c.2541A>T (p.Gln847His) c.2097A>T (p.Gln699His) | |
17 | g.29534298A= | CA2254807261 | TAOK1 | c.2542A= (p.Lys848=) c.2098A= (p.Lys700=) | |
17 | g.29534298A>C | CA398917462 | TAOK1 | c.2542A>C (p.Lys848Gln) c.2098A>C (p.Lys700Gln) | |
17 | g.29534298A>G | CA398917460 | TAOK1 | c.2542A>G (p.Lys848Glu) c.2098A>G (p.Lys700Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534298A>T | CA398917461 | TAOK1 | c.2542A>T (p.Lys848Ter) c.2098A>T (p.Lys700Ter) | |
17 | g.29534299A= | CA2254807264 | TAOK1 | c.2543A= (p.Lys848=) c.2099A= (p.Lys700=) | |
17 | g.29534299A>C | CA398917463 | TAOK1 | c.2543A>C (p.Lys848Thr) c.2099A>C (p.Lys700Thr) | dbSNP |
17 | g.29534299A>G | CA398917464 | TAOK1 | c.2543A>G (p.Lys848Arg) c.2099A>G (p.Lys700Arg) | gnomAD v4 |
17 | g.29534299A>T | CA398917465 | TAOK1 | c.2543A>T (p.Lys848Met) c.2099A>T (p.Lys700Met) | |
17 | g.29534300G>A | CA499152500 | TAOK1 | c.2544G>A (p.Lys848=) c.2100G>A (p.Lys700=) | gnomAD v4 |
17 | g.29534300G>C | CA398917466 | TAOK1 | c.2544G>C (p.Lys848Asn) c.2100G>C (p.Lys700Asn) | |
17 | g.29534300G>T | CA398917467 | TAOK1 | c.2544G>T (p.Lys848Asn) c.2100G>T (p.Lys700Asn) | gnomAD v4 |
17 | g.29534301G>A | CA398917468 | TAOK1 | c.2544+1G>A (n.2544+1G>A) c.2100+1G>A (n.2100+1G>A) | |
17 | g.29534301G>C | CA398917469 | TAOK1 | c.2544+1G>C (n.2544+1G>C) c.2100+1G>C (n.2100+1G>C) | |
17 | g.29534301G>T | CA398917470 | TAOK1 | c.2544+1G>T (n.2544+1G>T) c.2100+1G>T (n.2100+1G>T) | gnomAD v4 |
17 | g.29534301_29534302del | CA2636955646 | TAOK1 | c.2544+1_2544+2del (n.2544+1_2544+2del) c.2100+1_2100+2del (n.2100+1_2100+2del) | gnomAD v4 |
17 | g.29534302T>A | CA398917471 | TAOK1 | c.2544+2T>A (n.2544+2T>A) c.2100+2T>A (n.2100+2T>A) | |
17 | g.29534302T>C | CA398917472 | TAOK1 | c.2544+2T>C (n.2544+2T>C) c.2100+2T>C (n.2100+2T>C) | gnomAD v4 |
17 | g.29534302T>G | CA398917473 | TAOK1 | c.2544+2T>G (n.2544+2T>G) c.2100+2T>G (n.2100+2T>G) | gnomAD v4 |
17 | g.29534303A= | CA2254807266 | TAOK1 | c.2544+3A= (n.2544+3A=) c.2100+3A= (n.2100+3A=) | |
17 | g.29534303A>G | CA625778623 | TAOK1 | c.2544+3A>G (n.2544+3A>G) c.2100+3A>G (n.2100+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534304del | CA2636955647 | TAOK1 | c.2544+4del (n.2544+4del) c.2100+4del (n.2100+4del) | gnomAD v4 |
17 | g.29534304_29534305insTG | CA2636955648 | TAOK1 | c.2544+4_2544+5insTG (n.2544+4_2544+5insTG) c.2100+4_2100+5insTG (n.2100+4_2100+5insTG) | gnomAD v4 |
17 | g.29534305A= | CA2254807268 | TAOK1 | c.2544+5A= (n.2544+5A=) c.2100+5A= (n.2100+5A=) | |
17 | g.29534305A>G | CA8474877 | TAOK1 | c.2544+5A>G (n.2544+5A>G) c.2100+5A>G (n.2100+5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534307G>A | CA2636955649 | TAOK1 | c.2544+7G>A (n.2544+7G>A) c.2100+7G>A (n.2100+7G>A) | gnomAD v4 |
17 | g.29534307G>T | CA2636955650 | TAOK1 | c.2544+7G>T (n.2544+7G>T) c.2100+7G>T (n.2100+7G>T) | gnomAD v4 |
17 | g.29534307_29534308insAAGAGA | CA2636955651 | TAOK1 | c.2544+7_2544+8insAAGAGA (n.2544+7_2544+8insAAGAGA) c.2100+7_2100+8insAAGAGA (n.2100+7_2100+8insAAGAGA) | gnomAD v4 |
17 | g.29534308T>A | CA625778624 | TAOK1 | c.2544+8T>A (n.2544+8T>A) c.2100+8T>A (n.2100+8T>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534308T= | CA2254807271 | TAOK1 | c.2544+8T= (n.2544+8T=) c.2100+8T= (n.2100+8T=) | |
17 | g.29534308_29534309insCCTCTTTT | CA2809143059 | TAOK1 | c.2544+8_2544+9insCCTCTTTT (n.2544+8_2544+9insCCTCTTTT) c.2100+8_2100+9insCCTCTTTT (n.2100+8_2100+9insCCTCTTTT) | |
17 | g.29534308_29534309insGTTGGCTTTGCAG | CA2636955652 | TAOK1 | c.2544+8_2544+9insGTTGGCTTTGCAG (n.2544+8_2544+9insGTTGGCTTTGCAG) c.2100+8_2100+9insGTTGGCTTTGCAG (n.2100+8_2100+9insGTTGGCTTTGCAG) | gnomAD v4 |
17 | g.29534309A= | CA2254807273 | TAOK1 | c.2544+9A= (n.2544+9A=) c.2100+9A= (n.2100+9A=) | |
17 | g.29534309A>G | CA8474878 | TAOK1 | c.2544+9A>G (n.2544+9A>G) c.2100+9A>G (n.2100+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534309_29534310insC | CA2809143060 | TAOK1 | c.2544+9_2544+10insC (n.2544+9_2544+10insC) c.2100+9_2100+10insC (n.2100+9_2100+10insC) | |
17 | g.29534310A= | CA2254807275 | TAOK1 | c.2544+10A= (n.2544+10A=) c.2100+10A= (n.2100+10A=) | |
17 | g.29534310A>G | CA727895291 | TAOK1 | c.2544+10A>G (n.2544+10A>G) c.2100+10A>G (n.2100+10A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.29534311T>A | CA982841859 | TAOK1 | c.2544+11T>A (n.2544+11T>A) c.2100+11T>A (n.2100+11T>A) | gnomAD v3 gnomAD v4 |
17 | g.29534311T>C | CA8474879 | TAOK1 | c.2544+11T>C (n.2544+11T>C) c.2100+11T>C (n.2100+11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.29534311T>G | CA2581300398 | TAOK1 | c.2544+11T>G (n.2544+11T>G) c.2100+11T>G (n.2100+11T>G) | |
17 | g.29534311T= | CA2254807277 | TAOK1 | c.2544+11T= (n.2544+11T=) c.2100+11T= (n.2100+11T=) | |
17 | g.29534311_29534312insGAGCGCAC | CA2636955653 | TAOK1 | c.2544+11_2544+12insGAGCGCAC (n.2544+11_2544+12insGAGCGCAC) c.2100+11_2100+12insGAGCGCAC (n.2100+11_2100+12insGAGCGCAC) | gnomAD v4 |
17 | g.29534312A>G | CA2636955654 | TAOK1 | c.2544+12A>G (n.2544+12A>G) c.2100+12A>G (n.2100+12A>G) | gnomAD v4 |
17 | g.29534312_29534315del | CA2636955655 | TAOK1 | c.2544+12_2544+15del (n.2544+12_2544+15del) c.2100+12_2100+15del (n.2100+12_2100+15del) | gnomAD v4 |
17 | g.29534313G>A | CA625778625 | TAOK1 | c.2544+13G>A (n.2544+13G>A) c.2100+13G>A (n.2100+13G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534313G>C | CA2636955656 | TAOK1 | c.2544+13G>C (n.2544+13G>C) c.2100+13G>C (n.2100+13G>C) | gnomAD v4 |
17 | g.29534313G= | CA2254807279 | TAOK1 | c.2544+13G= (n.2544+13G=) c.2100+13G= (n.2100+13G=) | |
17 | g.29534314A>C | CA2636955657 | TAOK1 | c.2544+14A>C (n.2544+14A>C) c.2100+14A>C (n.2100+14A>C) | gnomAD v4 |
17 | g.29534314A>G | CA2636955658 | TAOK1 | c.2544+14A>G (n.2544+14A>G) c.2100+14A>G (n.2100+14A>G) | gnomAD v4 |
17 | g.29534315del | CA2809143063 | TAOK1 | c.2544+15del (n.2544+15del) c.2100+15del (n.2100+15del) | |
17 | g.29534315A>G | CA2636955659 | TAOK1 | c.2544+15A>G (n.2544+15A>G) c.2100+15A>G (n.2100+15A>G) | gnomAD v4 |
17 | g.29534316G>A | CA625778626 | TAOK1 | c.2544+16G>A (n.2544+16G>A) c.2100+16G>A (n.2100+16G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534316G= | CA2254807280 | TAOK1 | c.2544+16G= (n.2544+16G=) c.2100+16G= (n.2100+16G=) | |
17 | g.29534316G>T | CA2254807281 | TAOK1 | c.2544+16G>T (n.2544+16G>T) c.2100+16G>T (n.2100+16G>T) | dbSNP gnomAD v4 |
17 | g.29534317G>A | CA625778627 | TAOK1 | c.2544+17G>A (n.2544+17G>A) c.2100+17G>A (n.2100+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.29534317G= | CA2254807283 | TAOK1 | c.2544+17G= (n.2544+17G=) c.2100+17G= (n.2100+17G=) | |
17 | g.29534317G>T | CA2636955660 | TAOK1 | c.2544+17G>T (n.2544+17G>T) c.2100+17G>T (n.2100+17G>T) | gnomAD v4 |
17 | g.29534318A>G | CA2636955662 | TAOK1 | c.2544+18A>G (n.2544+18A>G) c.2100+18A>G (n.2100+18A>G) | gnomAD v4 |
17 | g.29534322del | CA2636955661 | TAOK1 | c.2544+22del (n.2544+22del) c.2100+22del (n.2100+22del) | gnomAD v4 |
17 | g.29534318_29534326del | CA2809143065 | TAOK1 | c.2544+18_2544+26del (n.2544+18_2544+26del) c.2100+18_2100+26del (n.2100+18_2100+26del) | |
17 | g.29534319A= | CA2254807285 | TAOK1 | c.2544+19A= (n.2544+19A=) c.2100+19A= (n.2100+19A=) | |
17 | g.29534319A>C | CA2636955663 | TAOK1 | c.2544+19A>C (n.2544+19A>C) c.2100+19A>C (n.2100+19A>C) | gnomAD v4 |
17 | g.29534319A>G | CA8474880 | TAOK1 | c.2544+19A>G (n.2544+19A>G) c.2100+19A>G (n.2100+19A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |