Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.29534225T>ACA499152422TAOK1c.2469T>A (p.Ala823=)
c.2025T>A (p.Ala675=)
17g.29534225T>CCA499152424TAOK1c.2469T>C (p.Ala823=)
c.2025T>C (p.Ala675=)
17g.29534225T>GCA499152423TAOK1c.2469T>G (p.Ala823=)
c.2025T>G (p.Ala675=)
17g.29534226G>ACA398917302TAOK1c.2470G>A (p.Glu824Lys)
c.2026G>A (p.Glu676Lys)
17g.29534226G>CCA398917303TAOK1c.2470G>C (p.Glu824Gln)
c.2026G>C (p.Glu676Gln)
17g.29534226G>TCA398917304TAOK1c.2470G>T (p.Glu824Ter)
c.2026G>T (p.Glu676Ter)
17g.29534227A>CCA398917305TAOK1c.2471A>C (p.Glu824Ala)
c.2027A>C (p.Glu676Ala)
17g.29534227A>GCA398917306TAOK1c.2471A>G (p.Glu824Gly)
c.2027A>G (p.Glu676Gly)
17g.29534227A>TCA398917307TAOK1c.2471A>T (p.Glu824Val)
c.2027A>T (p.Glu676Val)
17g.29534228G>ACA499152426TAOK1c.2472G>A (p.Glu824=)
c.2028G>A (p.Glu676=)
17g.29534228G>CCA398917308TAOK1c.2472G>C (p.Glu824Asp)
c.2028G>C (p.Glu676Asp)
17g.29534228G>TCA398917309TAOK1c.2472G>T (p.Glu824Asp)
c.2028G>T (p.Glu676Asp)
17g.29534229G>ACA398917310TAOK1c.2473G>A (p.Ala825Thr)
c.2029G>A (p.Ala677Thr)
17g.29534229G>CCA398917311TAOK1c.2473G>C (p.Ala825Pro)
c.2029G>C (p.Ala677Pro)
17g.29534229G>TCA398917312TAOK1c.2473G>T (p.Ala825Ser)
c.2029G>T (p.Ala677Ser)
17g.29534230C>ACA398917313TAOK1c.2474C>A (p.Ala825Glu)
c.2030C>A (p.Ala677Glu)
17g.29534230C>GCA398917314TAOK1c.2474C>G (p.Ala825Gly)
c.2030C>G (p.Ala677Gly)
17g.29534230C>TCA398917315TAOK1c.2474C>T (p.Ala825Val)
c.2030C>T (p.Ala677Val)
 dbSNP
17g.29534232_29534236delCA982841817TAOK1c.2476_2480del (p.Gln826Ter)
c.2032_2036del (p.Gln678Ter)
 gnomAD v3 gnomAD v4
17g.29534231A=CA2254807193TAOK1c.2475A= (p.Ala825=)
c.2031A= (p.Ala677=)
17g.29534231A>CCA499152428TAOK1c.2475A>C (p.Ala825=)
c.2031A>C (p.Ala677=)
17g.29534231A>GCA8474864TAOK1c.2475A>G (p.Ala825=)
c.2031A>G (p.Ala677=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534231A>TCA499152429TAOK1c.2475A>T (p.Ala825=)
c.2031A>T (p.Ala677=)
17g.29534232C>ACA398917316TAOK1c.2476C>A (p.Gln826Lys)
c.2032C>A (p.Gln678Lys)
17g.29534232C>GCA398917317TAOK1c.2476C>G (p.Gln826Glu)
c.2032C>G (p.Gln678Glu)
17g.29534232C>TCA398917318TAOK1c.2476C>T (p.Gln826Ter)
c.2032C>T (p.Gln678Ter)
17g.29534233A>CCA398917319TAOK1c.2477A>C (p.Gln826Pro)
c.2033A>C (p.Gln678Pro)
17g.29534233A>GCA398917320TAOK1c.2477A>G (p.Gln826Arg)
c.2033A>G (p.Gln678Arg)
17g.29534233A>TCA398917321TAOK1c.2477A>T (p.Gln826Leu)
c.2033A>T (p.Gln678Leu)
17g.29534234A=CA2254807196TAOK1c.2478A= (p.Gln826=)
c.2034A= (p.Gln678=)
17g.29534234A>CCA398917322TAOK1c.2478A>C (p.Gln826His)
c.2034A>C (p.Gln678His)
17g.29534234A>GCA499152431TAOK1c.2478A>G (p.Gln826=)
c.2034A>G (p.Gln678=)
 dbSNP gnomAD v2
17g.29534234A>TCA8474865TAOK1c.2478A>T (p.Gln826His)
c.2034A>T (p.Gln678His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29534235C>ACA398917323TAOK1c.2479C>A (p.His827Asn)
c.2035C>A (p.His679Asn)
17g.29534235C>GCA398917324TAOK1c.2479C>G (p.His827Asp)
c.2035C>G (p.His679Asp)
17g.29534235C>TCA398917325TAOK1c.2479C>T (p.His827Tyr)
c.2035C>T (p.His679Tyr)
 gnomAD v4
17g.29534236A>CCA398917326TAOK1c.2480A>C (p.His827Pro)
c.2036A>C (p.His679Pro)
 gnomAD v4
17g.29534236A>GCA398917327TAOK1c.2480A>G (p.His827Arg)
c.2036A>G (p.His679Arg)
 gnomAD v4
17g.29534236A>TCA398917328TAOK1c.2480A>T (p.His827Leu)
c.2036A>T (p.His679Leu)
17g.29534237T>ACA398917329TAOK1c.2481T>A (p.His827Gln)
c.2037T>A (p.His679Gln)
 gnomAD v4
17g.29534237T>CCA499152432TAOK1c.2481T>C (p.His827=)
c.2037T>C (p.His679=)
17g.29534237T>GCA398917330TAOK1c.2481T>G (p.His827Gln)
c.2037T>G (p.His679Gln)
17g.29534238G>ACA398917331TAOK1c.2482G>A (p.Asp828Asn)
c.2038G>A (p.Asp680Asn)
17g.29534238G>CCA398917333TAOK1c.2482G>C (p.Asp828His)
c.2038G>C (p.Asp680His)
17g.29534238G>TCA398917332TAOK1c.2482G>T (p.Asp828Tyr)
c.2038G>T (p.Asp680Tyr)
17g.29534239A>CCA398917334TAOK1c.2483A>C (p.Asp828Ala)
c.2039A>C (p.Asp680Ala)
17g.29534239A>GCA398917335TAOK1c.2483A>G (p.Asp828Gly)
c.2039A>G (p.Asp680Gly)
17g.29534239A>TCA398917336TAOK1c.2483A>T (p.Asp828Val)
c.2039A>T (p.Asp680Val)
 gnomAD v4
17g.29534240T>ACA398917337TAOK1c.2484T>A (p.Asp828Glu)
c.2040T>A (p.Asp680Glu)
17g.29534240T>CCA8474866TAOK1c.2484T>C (p.Asp828=)
c.2040T>C (p.Asp680=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534240T>GCA398917338TAOK1c.2484T>G (p.Asp828Glu)
c.2040T>G (p.Asp680Glu)
17g.29534240T=CA2254807198TAOK1c.2484T= (p.Asp828=)
c.2040T= (p.Asp680=)
17g.29534241C>ACA499152434TAOK1c.2485C>A (p.Arg829=)
c.2041C>A (p.Arg681=)
 gnomAD v4
17g.29534241C=CA2254807201TAOK1c.2485C= (p.Arg829=)
c.2041C= (p.Arg681=)
17g.29534241C>GCA398917339TAOK1c.2485C>G (p.Arg829Gly)
c.2041C>G (p.Arg681Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.29534241C>TCA398917340TAOK1c.2485C>T (p.Arg829Ter)
c.2041C>T (p.Arg681Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.29534242G>ACA8474867TAOK1c.2486G>A (p.Arg829Gln)
c.2042G>A (p.Arg681Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29534242G>CCA398917341TAOK1c.2486G>C (p.Arg829Pro)
c.2042G>C (p.Arg681Pro)
17g.29534242G=CA2254807207TAOK1c.2486G= (p.Arg829=)
c.2042G= (p.Arg681=)
17g.29534242G>TCA398917342TAOK1c.2486G>T (p.Arg829Leu)
c.2042G>T (p.Arg681Leu)
17g.29534243A>CCA499152438TAOK1c.2487A>C (p.Arg829=)
c.2043A>C (p.Arg681=)
17g.29534243A>GCA499152439TAOK1c.2487A>G (p.Arg829=)
c.2043A>G (p.Arg681=)
17g.29534243A>TCA499152440TAOK1c.2487A>T (p.Arg829=)
c.2043A>T (p.Arg681=)
17g.29534244G>ACA398917345TAOK1c.2488G>A (p.Glu830Lys)
c.2044G>A (p.Glu682Lys)
17g.29534244G>CCA398917344TAOK1c.2488G>C (p.Glu830Gln)
c.2044G>C (p.Glu682Gln)
17g.29534244G>TCA398917343TAOK1c.2488G>T (p.Glu830Ter)
c.2044G>T (p.Glu682Ter)
 ClinVar dbSNP
17g.29534245A>CCA398917346TAOK1c.2489A>C (p.Glu830Ala)
c.2045A>C (p.Glu682Ala)
17g.29534245A>GCA398917347TAOK1c.2489A>G (p.Glu830Gly)
c.2045A>G (p.Glu682Gly)
17g.29534245A>TCA398917348TAOK1c.2489A>T (p.Glu830Val)
c.2045A>T (p.Glu682Val)
17g.29534246G>ACA8474868TAOK1c.2490G>A (p.Glu830=)
c.2046G>A (p.Glu682=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534246G>CCA398917349TAOK1c.2490G>C (p.Glu830Asp)
c.2046G>C (p.Glu682Asp)
17g.29534246G=CA2254807210TAOK1c.2490G= (p.Glu830=)
c.2046G= (p.Glu682=)
17g.29534246G>TCA398917350TAOK1c.2490G>T (p.Glu830Asp)
c.2046G>T (p.Glu682Asp)
17g.29534247C>ACA398917351TAOK1c.2491C>A (p.Leu831Ile)
c.2047C>A (p.Leu683Ile)
17g.29534247C>GCA398917352TAOK1c.2491C>G (p.Leu831Val)
c.2047C>G (p.Leu683Val)
17g.29534247C>TCA398917353TAOK1c.2491C>T (p.Leu831Phe)
c.2047C>T (p.Leu683Phe)
17g.29534248T>ACA398917354TAOK1c.2492T>A (p.Leu831His)
c.2048T>A (p.Leu683His)
17g.29534248T>CCA398917355TAOK1c.2492T>C (p.Leu831Pro)
c.2048T>C (p.Leu683Pro)
17g.29534248T>GCA398917356TAOK1c.2492T>G (p.Leu831Arg)
c.2048T>G (p.Leu683Arg)
17g.29534249T>ACA499152442TAOK1c.2493T>A (p.Leu831=)
c.2049T>A (p.Leu683=)
17g.29534249T>CCA499152443TAOK1c.2493T>C (p.Leu831=)
c.2049T>C (p.Leu683=)
17g.29534249T>GCA499152444TAOK1c.2493T>G (p.Leu831=)
c.2049T>G (p.Leu683=)
17g.29534250C>ACA398917358TAOK1c.2494C>A (p.Arg832Ser)
c.2050C>A (p.Arg684Ser)
17g.29534250C=CA2254807213TAOK1c.2494C= (p.Arg832=)
c.2050C= (p.Arg684=)
17g.29534250C>GCA398917357TAOK1c.2494C>G (p.Arg832Gly)
c.2050C>G (p.Arg684Gly)
 gnomAD v4
17g.29534250C>TCA8474869TAOK1c.2494C>T (p.Arg832Cys)
c.2050C>T (p.Arg684Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534251G>ACA8474870TAOK1c.2495G>A (p.Arg832His)
c.2051G>A (p.Arg684His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.29534251G>CCA398917359TAOK1c.2495G>C (p.Arg832Pro)
c.2051G>C (p.Arg684Pro)
17g.29534251G=CA2254807216TAOK1c.2495G= (p.Arg832=)
c.2051G= (p.Arg684=)
17g.29534251G>TCA398917360TAOK1c.2495G>T (p.Arg832Leu)
c.2051G>T (p.Arg684Leu)
17g.29534252C>ACA499152449TAOK1c.2496C>A (p.Arg832=)
c.2052C>A (p.Arg684=)
17g.29534252C=CA2254807221TAOK1c.2496C= (p.Arg832=)
c.2052C= (p.Arg684=)
17g.29534252C>GCA499152450TAOK1c.2496C>G (p.Arg832=)
c.2052C>G (p.Arg684=)
17g.29534252C>TCA8474871TAOK1c.2496C>T (p.Arg832=)
c.2052C>T (p.Arg684=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534253G>ACA398917361TAOK1c.2497G>A (p.Glu833Lys)
c.2053G>A (p.Glu685Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.29534253G>CCA398917362TAOK1c.2497G>C (p.Glu833Gln)
c.2053G>C (p.Glu685Gln)
17g.29534253G=CA2254807226TAOK1c.2497G= (p.Glu833=)
c.2053G= (p.Glu685=)
17g.29534253G>TCA398917363TAOK1c.2497G>T (p.Glu833Ter)
c.2053G>T (p.Glu685Ter)
17g.29534254A>CCA398917364TAOK1c.2498A>C (p.Glu833Ala)
c.2054A>C (p.Glu685Ala)
17g.29534254A>GCA398917365TAOK1c.2498A>G (p.Glu833Gly)
c.2054A>G (p.Glu685Gly)
17g.29534254A>TCA398917366TAOK1c.2498A>T (p.Glu833Val)
c.2054A>T (p.Glu685Val)
17g.29534255G>ACA499152452TAOK1c.2499G>A (p.Glu833=)
c.2055G>A (p.Glu685=)
17g.29534255G>CCA398917367TAOK1c.2499G>C (p.Glu833Asp)
c.2055G>C (p.Glu685Asp)
17g.29534255G>TCA398917368TAOK1c.2499G>T (p.Glu833Asp)
c.2055G>T (p.Glu685Asp)
17g.29534256C>ACA398917371TAOK1c.2500C>A (p.Leu834Ile)
c.2056C>A (p.Leu686Ile)
17g.29534256C=CA2254807229TAOK1c.2500C= (p.Leu834=)
c.2056C= (p.Leu686=)
17g.29534256C>GCA398917370TAOK1c.2500C>G (p.Leu834Val)
c.2056C>G (p.Leu686Val)
 dbSNP
17g.29534256C>TCA398917369TAOK1c.2500C>T (p.Leu834Phe)
c.2056C>T (p.Leu686Phe)
17g.29534257T>ACA398917372TAOK1c.2501T>A (p.Leu834His)
c.2057T>A (p.Leu686His)
17g.29534257T>CCA398917373TAOK1c.2501T>C (p.Leu834Pro)
c.2057T>C (p.Leu686Pro)
17g.29534257T>GCA398917374TAOK1c.2501T>G (p.Leu834Arg)
c.2057T>G (p.Leu686Arg)
17g.29534258T>ACA499152456TAOK1c.2502T>A (p.Leu834=)
c.2058T>A (p.Leu686=)
17g.29534258T>CCA499152455TAOK1c.2502T>C (p.Leu834=)
c.2058T>C (p.Leu686=)
17g.29534258T>GCA499152454TAOK1c.2502T>G (p.Leu834=)
c.2058T>G (p.Leu686=)
17g.29534259G>ACA398917375TAOK1c.2503G>A (p.Glu835Lys)
c.2059G>A (p.Glu687Lys)
17g.29534259G>CCA398917376TAOK1c.2503G>C (p.Glu835Gln)
c.2059G>C (p.Glu687Gln)
17g.29534259G>TCA398917377TAOK1c.2503G>T (p.Glu835Ter)
c.2059G>T (p.Glu687Ter)
 ClinVar dbSNP
17g.29534260A>CCA398917378TAOK1c.2504A>C (p.Glu835Ala)
c.2060A>C (p.Glu687Ala)
17g.29534260A>GCA398917379TAOK1c.2504A>G (p.Glu835Gly)
c.2060A>G (p.Glu687Gly)
17g.29534260A>TCA398917380TAOK1c.2504A>T (p.Glu835Val)
c.2060A>T (p.Glu687Val)
17g.29534261A=CA2254807232TAOK1c.2505A= (p.Glu835=)
c.2061A= (p.Glu687=)
17g.29534261A>CCA398917381TAOK1c.2505A>C (p.Glu835Asp)
c.2061A>C (p.Glu687Asp)
17g.29534261A>GCA8474872TAOK1c.2505A>G (p.Glu835=)
c.2061A>G (p.Glu687=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534261A>TCA398917382TAOK1c.2505A>T (p.Glu835Asp)
c.2061A>T (p.Glu687Asp)
17g.29534262C>ACA398917385TAOK1c.2506C>A (p.Gln836Lys)
c.2062C>A (p.Gln688Lys)
17g.29534262C>GCA398917384TAOK1c.2506C>G (p.Gln836Glu)
c.2062C>G (p.Gln688Glu)
17g.29534262C>TCA398917383TAOK1c.2506C>T (p.Gln836Ter)
c.2062C>T (p.Gln688Ter)
17g.29534263A>CCA398917386TAOK1c.2507A>C (p.Gln836Pro)
c.2063A>C (p.Gln688Pro)
17g.29534263A>GCA398917388TAOK1c.2507A>G (p.Gln836Arg)
c.2063A>G (p.Gln688Arg)
17g.29534263A>TCA398917387TAOK1c.2507A>T (p.Gln836Leu)
c.2063A>T (p.Gln688Leu)
17g.29534264G>ACA499152462TAOK1c.2508G>A (p.Gln836=)
c.2064G>A (p.Gln688=)
17g.29534264G>CCA289202119TAOK1c.2508G>C (p.Gln836His)
c.2064G>C (p.Gln688His)
 dbSNP
17g.29534264G=CA2254807235TAOK1c.2508G= (p.Gln836=)
c.2064G= (p.Gln688=)
17g.29534264G>TCA398917389TAOK1c.2508G>T (p.Gln836His)
c.2064G>T (p.Gln688His)
17g.29534265A>CCA499152464TAOK1c.2509A>C (p.Arg837=)
c.2065A>C (p.Arg689=)
17g.29534265A>GCA398917390TAOK1c.2509A>G (p.Arg837Gly)
c.2065A>G (p.Arg689Gly)
17g.29534265A>TCA398917391TAOK1c.2509A>T (p.Arg837Trp)
c.2065A>T (p.Arg689Trp)
17g.29534266G>ACA398917392TAOK1c.2510G>A (p.Arg837Lys)
c.2066G>A (p.Arg689Lys)
 gnomAD v3 gnomAD v4
17g.29534266G>CCA398917393TAOK1c.2510G>C (p.Arg837Thr)
c.2066G>C (p.Arg689Thr)
17g.29534266G>TCA398917394TAOK1c.2510G>T (p.Arg837Met)
c.2066G>T (p.Arg689Met)
17g.29534267G>ACA8474873TAOK1c.2511G>A (p.Arg837=)
c.2067G>A (p.Arg689=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534267G>CCA398917395TAOK1c.2511G>C (p.Arg837Ser)
c.2067G>C (p.Arg689Ser)
17g.29534267G=CA2254807238TAOK1c.2511G= (p.Arg837=)
c.2067G= (p.Arg689=)
17g.29534267G>TCA398917396TAOK1c.2511G>T (p.Arg837Ser)
c.2067G>T (p.Arg689Ser)
17g.29534268G>ACA398917397TAOK1c.2512G>A (p.Val838Ile)
c.2068G>A (p.Val690Ile)
17g.29534268G>CCA398917398TAOK1c.2512G>C (p.Val838Leu)
c.2068G>C (p.Val690Leu)
17g.29534268G>TCA398917399TAOK1c.2512G>T (p.Val838Phe)
c.2068G>T (p.Val690Phe)
 gnomAD v4
17g.29534268_29534271dupCA8474874TAOK1c.2512_2515dup (p.Ser839CysfsTer13)
c.2068_2071dup (p.Ser691CysfsTer13)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29534269T>ACA398917402TAOK1c.2513T>A (p.Val838Asp)
c.2069T>A (p.Val690Asp)
17g.29534269T>CCA398917400TAOK1c.2513T>C (p.Val838Ala)
c.2069T>C (p.Val690Ala)
17g.29534269T>GCA398917401TAOK1c.2513T>G (p.Val838Gly)
c.2069T>G (p.Val690Gly)
17g.29534270C>ACA499152468TAOK1c.2514C>A (p.Val838=)
c.2070C>A (p.Val690=)
17g.29534270C>GCA499152469TAOK1c.2514C>G (p.Val838=)
c.2070C>G (p.Val690=)
17g.29534270C>TCA499152470TAOK1c.2514C>T (p.Val838=)
c.2070C>T (p.Val690=)
 gnomAD v4
17g.29534271T>ACA398917403TAOK1c.2515T>A (p.Ser839Thr)
c.2071T>A (p.Ser691Thr)
17g.29534271T>CCA398917404TAOK1c.2515T>C (p.Ser839Pro)
c.2071T>C (p.Ser691Pro)
17g.29534271T>GCA398917405TAOK1c.2515T>G (p.Ser839Ala)
c.2071T>G (p.Ser691Ala)
17g.29534272C>ACA398917406TAOK1c.2516C>A (p.Ser839Tyr)
c.2072C>A (p.Ser691Tyr)
17g.29534272C>GCA398917407TAOK1c.2516C>G (p.Ser839Cys)
c.2072C>G (p.Ser691Cys)
 dbSNP
17g.29534272C>TCA398917408TAOK1c.2516C>T (p.Ser839Phe)
c.2072C>T (p.Ser691Phe)
17g.29534273C>ACA499152477TAOK1c.2517C>A (p.Ser839=)
c.2073C>A (p.Ser691=)
 gnomAD v4
17g.29534273C>GCA499152475TAOK1c.2517C>G (p.Ser839=)
c.2073C>G (p.Ser691=)
17g.29534273C>TCA499152476TAOK1c.2517C>T (p.Ser839=)
c.2073C>T (p.Ser691=)
17g.29534274C>ACA398917409TAOK1c.2518C>A (p.Leu840Ile)
c.2074C>A (p.Leu692Ile)
 gnomAD v4
17g.29534274C=CA2254807243TAOK1c.2518C= (p.Leu840=)
c.2074C= (p.Leu692=)
17g.29534274C>GCA398917410TAOK1c.2518C>G (p.Leu840Val)
c.2074C>G (p.Leu692Val)
17g.29534274C>TCA398917411TAOK1c.2518C>T (p.Leu840Phe)
c.2074C>T (p.Leu692Phe)
 dbSNP gnomAD v3 gnomAD v4
17g.29534275T>ACA398917412TAOK1c.2519T>A (p.Leu840His)
c.2075T>A (p.Leu692His)
17g.29534275T>CCA398917413TAOK1c.2519T>C (p.Leu840Pro)
c.2075T>C (p.Leu692Pro)
17g.29534275T>GCA398917414TAOK1c.2519T>G (p.Leu840Arg)
c.2075T>G (p.Leu692Arg)
17g.29534276C>ACA499152481TAOK1c.2520C>A (p.Leu840=)
c.2076C>A (p.Leu692=)
17g.29534276C=CA2254807249TAOK1c.2520C= (p.Leu840=)
c.2076C= (p.Leu692=)
17g.29534276C>GCA499152482TAOK1c.2520C>G (p.Leu840=)
c.2076C>G (p.Leu692=)
 dbSNP gnomAD v4
17g.29534276C>TCA499152483TAOK1c.2520C>T (p.Leu840=)
c.2076C>T (p.Leu692=)
 dbSNP
17g.29534277C>ACA499152484TAOK1c.2521C>A (p.Arg841=)
c.2077C>A (p.Arg693=)
 gnomAD v4
17g.29534277C=CA2254807251TAOK1c.2521C= (p.Arg841=)
c.2077C= (p.Arg693=)
17g.29534277C>GCA398917415TAOK1c.2521C>G (p.Arg841Gly)
c.2077C>G (p.Arg693Gly)
17g.29534277C>TCA8474875TAOK1c.2521C>T (p.Arg841Trp)
c.2077C>T (p.Arg693Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534278G>ACA398917416TAOK1c.2522G>A (p.Arg841Gln)
c.2078G>A (p.Arg693Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.29534278G>CCA398917417TAOK1c.2522G>C (p.Arg841Pro)
c.2078G>C (p.Arg693Pro)
 COSMIC
17g.29534278G=CA2254807252TAOK1c.2522G= (p.Arg841=)
c.2078G= (p.Arg693=)
17g.29534278G>TCA398917418TAOK1c.2522G>T (p.Arg841Leu)
c.2078G>T (p.Arg693Leu)
17g.29534279G>ACA499152486TAOK1c.2523G>A (p.Arg841=)
c.2079G>A (p.Arg693=)
17g.29534279G>CCA499152488TAOK1c.2523G>C (p.Arg841=)
c.2079G>C (p.Arg693=)
17g.29534279G>TCA499152487TAOK1c.2523G>T (p.Arg841=)
c.2079G>T (p.Arg693=)
17g.29534280A=CA2254807254TAOK1c.2524A= (p.Arg842=)
c.2080A= (p.Arg694=)
17g.29534280A>CCA289202140TAOK1c.2524A>C (p.Arg842=)
c.2080A>C (p.Arg694=)
 dbSNP gnomAD v4
17g.29534280A>GCA398917419TAOK1c.2524A>G (p.Arg842Gly)
c.2080A>G (p.Arg694Gly)
17g.29534280A>TCA398917420TAOK1c.2524A>T (p.Arg842Trp)
c.2080A>T (p.Arg694Trp)
17g.29534281G>ACA398917421TAOK1c.2525G>A (p.Arg842Lys)
c.2081G>A (p.Arg694Lys)
17g.29534281G>CCA398917422TAOK1c.2525G>C (p.Arg842Thr)
c.2081G>C (p.Arg694Thr)
17g.29534281G>TCA398917423TAOK1c.2525G>T (p.Arg842Met)
c.2081G>T (p.Arg694Met)
17g.29534283delCA2636955644TAOK1c.2527del (p.Ala843HisfsTer3)
c.2083del (p.Ala695HisfsTer3)
 gnomAD v4
17g.29534282G>ACA499152489TAOK1c.2526G>A (p.Arg842=)
c.2082G>A (p.Arg694=)
17g.29534282G>CCA398917424TAOK1c.2526G>C (p.Arg842Ser)
c.2082G>C (p.Arg694Ser)
17g.29534282G>TCA398917425TAOK1c.2526G>T (p.Arg842Ser)
c.2082G>T (p.Arg694Ser)
17g.29534283G>ACA398917426TAOK1c.2527G>A (p.Ala843Thr)
c.2083G>A (p.Ala695Thr)
 gnomAD v4
17g.29534283G>CCA398917427TAOK1c.2527G>C (p.Ala843Pro)
c.2083G>C (p.Ala695Pro)
17g.29534283G>TCA398917428TAOK1c.2527G>T (p.Ala843Ser)
c.2083G>T (p.Ala695Ser)
 COSMIC
17g.29534284C>ACA398917429TAOK1c.2528C>A (p.Ala843Glu)
c.2084C>A (p.Ala695Glu)
 gnomAD v4
17g.29534284C>GCA398917431TAOK1c.2528C>G (p.Ala843Gly)
c.2084C>G (p.Ala695Gly)
17g.29534284C>TCA398917430TAOK1c.2528C>T (p.Ala843Val)
c.2084C>T (p.Ala695Val)
17g.29534285A>CCA499152490TAOK1c.2529A>C (p.Ala843=)
c.2085A>C (p.Ala695=)
17g.29534285A>GCA499152492TAOK1c.2529A>G (p.Ala843=)
c.2085A>G (p.Ala695=)
 gnomAD v4
17g.29534285A>TCA499152491TAOK1c.2529A>T (p.Ala843=)
c.2085A>T (p.Ala695=)
17g.29534286C>ACA398917432TAOK1c.2530C>A (p.Leu844Ile)
c.2086C>A (p.Leu696Ile)
 gnomAD v4
17g.29534286C>GCA398917433TAOK1c.2530C>G (p.Leu844Val)
c.2086C>G (p.Leu696Val)
 COSMIC
17g.29534286C>TCA398917434TAOK1c.2530C>T (p.Leu844Phe)
c.2086C>T (p.Leu696Phe)
17g.29534287T>ACA398917435TAOK1c.2531T>A (p.Leu844His)
c.2087T>A (p.Leu696His)
 ClinVar
17g.29534287T>CCA398917436TAOK1c.2531T>C (p.Leu844Pro)
c.2087T>C (p.Leu696Pro)
 gnomAD v4
17g.29534287T>GCA398917437TAOK1c.2531T>G (p.Leu844Arg)
c.2087T>G (p.Leu696Arg)
17g.29534288C>ACA499152493TAOK1c.2532C>A (p.Leu844=)
c.2088C>A (p.Leu696=)
17g.29534288C>GCA499152494TAOK1c.2532C>G (p.Leu844=)
c.2088C>G (p.Leu696=)
17g.29534288C>TCA499152495TAOK1c.2532C>T (p.Leu844=)
c.2088C>T (p.Leu696=)
17g.29534289T>ACA8474876TAOK1c.2533T>A (p.Leu845Ile)
c.2089T>A (p.Leu697Ile)
 dbSNP ExAC gnomAD v2
17g.29534289T>CCA499152496TAOK1c.2533T>C (p.Leu845=)
c.2089T>C (p.Leu697=)
17g.29534289T>GCA398917438TAOK1c.2533T>G (p.Leu845Val)
c.2089T>G (p.Leu697Val)
 dbSNP gnomAD v2 gnomAD v4
17g.29534289T=CA2254807256TAOK1c.2533T= (p.Leu845=)
c.2089T= (p.Leu697=)
17g.29534290T>ACA398917439TAOK1c.2534T>A (p.Leu845Ter)
c.2090T>A (p.Leu697Ter)
17g.29534290T>CCA398917440TAOK1c.2534T>C (p.Leu845Ser)
c.2090T>C (p.Leu697Ser)
 gnomAD v4
17g.29534290T>GCA398917441TAOK1c.2534T>G (p.Leu845Ter)
c.2090T>G (p.Leu697Ter)
17g.29534291A>CCA398917443TAOK1c.2535A>C (p.Leu845Phe)
c.2091A>C (p.Leu697Phe)
17g.29534291A>GCA499152497TAOK1c.2535A>G (p.Leu845=)
c.2091A>G (p.Leu697=)
17g.29534291A>TCA398917442TAOK1c.2535A>T (p.Leu845Phe)
c.2091A>T (p.Leu697Phe)
17g.29534292G>ACA398917444TAOK1c.2536G>A (p.Glu846Lys)
c.2092G>A (p.Glu698Lys)
17g.29534292G>CCA398917446TAOK1c.2536G>C (p.Glu846Gln)
c.2092G>C (p.Glu698Gln)
17g.29534292G>TCA398917445TAOK1c.2536G>T (p.Glu846Ter)
c.2092G>T (p.Glu698Ter)
17g.29534293A>CCA398917447TAOK1c.2537A>C (p.Glu846Ala)
c.2093A>C (p.Glu698Ala)
17g.29534293A>GCA398917448TAOK1c.2537A>G (p.Glu846Gly)
c.2093A>G (p.Glu698Gly)
17g.29534293A>TCA398917449TAOK1c.2537A>T (p.Glu846Val)
c.2093A>T (p.Glu698Val)
17g.29534294A>CCA398917450TAOK1c.2538A>C (p.Glu846Asp)
c.2094A>C (p.Glu698Asp)
17g.29534294A>GCA499152498TAOK1c.2538A>G (p.Glu846=)
c.2094A>G (p.Glu698=)
17g.29534294A>TCA398917451TAOK1c.2538A>T (p.Glu846Asp)
c.2094A>T (p.Glu698Asp)
 COSMIC
17g.29534295C>ACA398917452TAOK1c.2539C>A (p.Gln847Lys)
c.2095C>A (p.Gln699Lys)
17g.29534295C>GCA398917453TAOK1c.2539C>G (p.Gln847Glu)
c.2095C>G (p.Gln699Glu)
17g.29534295C>TCA398917454TAOK1c.2539C>T (p.Gln847Ter)
c.2095C>T (p.Gln699Ter)
17g.29534296A>CCA398917455TAOK1c.2540A>C (p.Gln847Pro)
c.2096A>C (p.Gln699Pro)
17g.29534296A>GCA398917456TAOK1c.2540A>G (p.Gln847Arg)
c.2096A>G (p.Gln699Arg)
17g.29534296A>TCA398917457TAOK1c.2540A>T (p.Gln847Leu)
c.2096A>T (p.Gln699Leu)
17g.29534299delCA2636955645TAOK1c.2543del (p.Lys848ArgfsTer?)
c.2099del (p.Lys700ArgfsTer?)
 gnomAD v4
17g.29534297A>CCA398917458TAOK1c.2541A>C (p.Gln847His)
c.2097A>C (p.Gln699His)
17g.29534297A>GCA499152499TAOK1c.2541A>G (p.Gln847=)
c.2097A>G (p.Gln699=)
17g.29534297A>TCA398917459TAOK1c.2541A>T (p.Gln847His)
c.2097A>T (p.Gln699His)
17g.29534298A=CA2254807261TAOK1c.2542A= (p.Lys848=)
c.2098A= (p.Lys700=)
17g.29534298A>CCA398917462TAOK1c.2542A>C (p.Lys848Gln)
c.2098A>C (p.Lys700Gln)
17g.29534298A>GCA398917460TAOK1c.2542A>G (p.Lys848Glu)
c.2098A>G (p.Lys700Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.29534298A>TCA398917461TAOK1c.2542A>T (p.Lys848Ter)
c.2098A>T (p.Lys700Ter)
17g.29534299A=CA2254807264TAOK1c.2543A= (p.Lys848=)
c.2099A= (p.Lys700=)
17g.29534299A>CCA398917463TAOK1c.2543A>C (p.Lys848Thr)
c.2099A>C (p.Lys700Thr)
 dbSNP
17g.29534299A>GCA398917464TAOK1c.2543A>G (p.Lys848Arg)
c.2099A>G (p.Lys700Arg)
 gnomAD v4
17g.29534299A>TCA398917465TAOK1c.2543A>T (p.Lys848Met)
c.2099A>T (p.Lys700Met)
17g.29534300G>ACA499152500TAOK1c.2544G>A (p.Lys848=)
c.2100G>A (p.Lys700=)
 gnomAD v4
17g.29534300G>CCA398917466TAOK1c.2544G>C (p.Lys848Asn)
c.2100G>C (p.Lys700Asn)
17g.29534300G>TCA398917467TAOK1c.2544G>T (p.Lys848Asn)
c.2100G>T (p.Lys700Asn)
 gnomAD v4
17g.29534301G>ACA398917468TAOK1c.2544+1G>A (n.2544+1G>A)
c.2100+1G>A (n.2100+1G>A)
17g.29534301G>CCA398917469TAOK1c.2544+1G>C (n.2544+1G>C)
c.2100+1G>C (n.2100+1G>C)
17g.29534301G>TCA398917470TAOK1c.2544+1G>T (n.2544+1G>T)
c.2100+1G>T (n.2100+1G>T)
 gnomAD v4
17g.29534301_29534302delCA2636955646TAOK1c.2544+1_2544+2del (n.2544+1_2544+2del)
c.2100+1_2100+2del (n.2100+1_2100+2del)
 gnomAD v4
17g.29534302T>ACA398917471TAOK1c.2544+2T>A (n.2544+2T>A)
c.2100+2T>A (n.2100+2T>A)
17g.29534302T>CCA398917472TAOK1c.2544+2T>C (n.2544+2T>C)
c.2100+2T>C (n.2100+2T>C)
 gnomAD v4
17g.29534302T>GCA398917473TAOK1c.2544+2T>G (n.2544+2T>G)
c.2100+2T>G (n.2100+2T>G)
 gnomAD v4
17g.29534303A=CA2254807266TAOK1c.2544+3A= (n.2544+3A=)
c.2100+3A= (n.2100+3A=)
17g.29534303A>GCA625778623TAOK1c.2544+3A>G (n.2544+3A>G)
c.2100+3A>G (n.2100+3A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.29534304delCA2636955647TAOK1c.2544+4del (n.2544+4del)
c.2100+4del (n.2100+4del)
 gnomAD v4
17g.29534304_29534305insTGCA2636955648TAOK1c.2544+4_2544+5insTG (n.2544+4_2544+5insTG)
c.2100+4_2100+5insTG (n.2100+4_2100+5insTG)
 gnomAD v4
17g.29534305A=CA2254807268TAOK1c.2544+5A= (n.2544+5A=)
c.2100+5A= (n.2100+5A=)
17g.29534305A>GCA8474877TAOK1c.2544+5A>G (n.2544+5A>G)
c.2100+5A>G (n.2100+5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534307G>ACA2636955649TAOK1c.2544+7G>A (n.2544+7G>A)
c.2100+7G>A (n.2100+7G>A)
 gnomAD v4
17g.29534307G>TCA2636955650TAOK1c.2544+7G>T (n.2544+7G>T)
c.2100+7G>T (n.2100+7G>T)
 gnomAD v4
17g.29534307_29534308insAAGAGACA2636955651TAOK1c.2544+7_2544+8insAAGAGA (n.2544+7_2544+8insAAGAGA)
c.2100+7_2100+8insAAGAGA (n.2100+7_2100+8insAAGAGA)
 gnomAD v4
17g.29534308T>ACA625778624TAOK1c.2544+8T>A (n.2544+8T>A)
c.2100+8T>A (n.2100+8T>A)
 dbSNP gnomAD v2 gnomAD v4
17g.29534308T=CA2254807271TAOK1c.2544+8T= (n.2544+8T=)
c.2100+8T= (n.2100+8T=)
17g.29534308_29534309insCCTCTTTTCA2809143059TAOK1c.2544+8_2544+9insCCTCTTTT (n.2544+8_2544+9insCCTCTTTT)
c.2100+8_2100+9insCCTCTTTT (n.2100+8_2100+9insCCTCTTTT)
17g.29534308_29534309insGTTGGCTTTGCAGCA2636955652TAOK1c.2544+8_2544+9insGTTGGCTTTGCAG (n.2544+8_2544+9insGTTGGCTTTGCAG)
c.2100+8_2100+9insGTTGGCTTTGCAG (n.2100+8_2100+9insGTTGGCTTTGCAG)
 gnomAD v4
17g.29534309A=CA2254807273TAOK1c.2544+9A= (n.2544+9A=)
c.2100+9A= (n.2100+9A=)
17g.29534309A>GCA8474878TAOK1c.2544+9A>G (n.2544+9A>G)
c.2100+9A>G (n.2100+9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534309_29534310insCCA2809143060TAOK1c.2544+9_2544+10insC (n.2544+9_2544+10insC)
c.2100+9_2100+10insC (n.2100+9_2100+10insC)
17g.29534310A=CA2254807275TAOK1c.2544+10A= (n.2544+10A=)
c.2100+10A= (n.2100+10A=)
17g.29534310A>GCA727895291TAOK1c.2544+10A>G (n.2544+10A>G)
c.2100+10A>G (n.2100+10A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.29534311T>ACA982841859TAOK1c.2544+11T>A (n.2544+11T>A)
c.2100+11T>A (n.2100+11T>A)
 gnomAD v3 gnomAD v4
17g.29534311T>CCA8474879TAOK1c.2544+11T>C (n.2544+11T>C)
c.2100+11T>C (n.2100+11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534311T>GCA2581300398TAOK1c.2544+11T>G (n.2544+11T>G)
c.2100+11T>G (n.2100+11T>G)
17g.29534311T=CA2254807277TAOK1c.2544+11T= (n.2544+11T=)
c.2100+11T= (n.2100+11T=)
17g.29534311_29534312insGAGCGCACCA2636955653TAOK1c.2544+11_2544+12insGAGCGCAC (n.2544+11_2544+12insGAGCGCAC)
c.2100+11_2100+12insGAGCGCAC (n.2100+11_2100+12insGAGCGCAC)
 gnomAD v4
17g.29534312A>GCA2636955654TAOK1c.2544+12A>G (n.2544+12A>G)
c.2100+12A>G (n.2100+12A>G)
 gnomAD v4
17g.29534312_29534315delCA2636955655TAOK1c.2544+12_2544+15del (n.2544+12_2544+15del)
c.2100+12_2100+15del (n.2100+12_2100+15del)
 gnomAD v4
17g.29534313G>ACA625778625TAOK1c.2544+13G>A (n.2544+13G>A)
c.2100+13G>A (n.2100+13G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.29534313G>CCA2636955656TAOK1c.2544+13G>C (n.2544+13G>C)
c.2100+13G>C (n.2100+13G>C)
 gnomAD v4
17g.29534313G=CA2254807279TAOK1c.2544+13G= (n.2544+13G=)
c.2100+13G= (n.2100+13G=)
17g.29534314A>CCA2636955657TAOK1c.2544+14A>C (n.2544+14A>C)
c.2100+14A>C (n.2100+14A>C)
 gnomAD v4
17g.29534314A>GCA2636955658TAOK1c.2544+14A>G (n.2544+14A>G)
c.2100+14A>G (n.2100+14A>G)
 gnomAD v4
17g.29534315delCA2809143063TAOK1c.2544+15del (n.2544+15del)
c.2100+15del (n.2100+15del)
17g.29534315A>GCA2636955659TAOK1c.2544+15A>G (n.2544+15A>G)
c.2100+15A>G (n.2100+15A>G)
 gnomAD v4
17g.29534316G>ACA625778626TAOK1c.2544+16G>A (n.2544+16G>A)
c.2100+16G>A (n.2100+16G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.29534316G=CA2254807280TAOK1c.2544+16G= (n.2544+16G=)
c.2100+16G= (n.2100+16G=)
17g.29534316G>TCA2254807281TAOK1c.2544+16G>T (n.2544+16G>T)
c.2100+16G>T (n.2100+16G>T)
 dbSNP gnomAD v4
17g.29534317G>ACA625778627TAOK1c.2544+17G>A (n.2544+17G>A)
c.2100+17G>A (n.2100+17G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.29534317G=CA2254807283TAOK1c.2544+17G= (n.2544+17G=)
c.2100+17G= (n.2100+17G=)
17g.29534317G>TCA2636955660TAOK1c.2544+17G>T (n.2544+17G>T)
c.2100+17G>T (n.2100+17G>T)
 gnomAD v4
17g.29534318A>GCA2636955662TAOK1c.2544+18A>G (n.2544+18A>G)
c.2100+18A>G (n.2100+18A>G)
 gnomAD v4
17g.29534322delCA2636955661TAOK1c.2544+22del (n.2544+22del)
c.2100+22del (n.2100+22del)
 gnomAD v4
17g.29534318_29534326delCA2809143065TAOK1c.2544+18_2544+26del (n.2544+18_2544+26del)
c.2100+18_2100+26del (n.2100+18_2100+26del)
17g.29534319A=CA2254807285TAOK1c.2544+19A= (n.2544+19A=)
c.2100+19A= (n.2100+19A=)
17g.29534319A>CCA2636955663TAOK1c.2544+19A>C (n.2544+19A>C)
c.2100+19A>C (n.2100+19A>C)
 gnomAD v4
17g.29534319A>GCA8474880TAOK1c.2544+19A>G (n.2544+19A>G)
c.2100+19A>G (n.2100+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29534320A>CCA2636955664TAOK1c.2544+20A>C (n.2544+20A>C)
c.2100+20A>C (n.2100+20A>C)
 gnomAD v4
17g.29534321A>GCA2503154878TAOK1c.2544+21A>G (n.2544+21A>G)
c.2100+21A>G (n.2100+21A>G)
17g.29534322A=CA2254807288TAOK1c.2544+22A= (n.2544+22A=)
c.2100+22A= (n.2100+22A=)
17g.29534322A>GCA8474882TAOK1c.2544+22A>G (n.2544+22A>G)
c.2100+22A>G (n.2100+22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534322A>TCA8474881TAOK1c.2544+22A>T (n.2544+22A>T)
c.2100+22A>T (n.2100+22A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29534323T>CCA2254807292TAOK1c.2544+23T>C (n.2544+23T>C)
c.2100+23T>C (n.2100+23T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.29534323T=CA2254807291TAOK1c.2544+23T= (n.2544+23T=)
c.2100+23T= (n.2100+23T=)
17g.29534323dupCA2636955665TAOK1c.2544+23dup (n.2544+23dup)
c.2100+23dup (n.2100+23dup)
 gnomAD v4
17g.29534324C>ACA2636955666TAOK1c.2544+24C>A (n.2544+24C>A)
c.2100+24C>A (n.2100+24C>A)
 gnomAD v4
17g.29534324C=CA2254807293TAOK1c.2544+24C= (n.2544+24C=)
c.2100+24C= (n.2100+24C=)
17g.29534324C>TCA8474883TAOK1c.2544+24C>T (n.2544+24C>T)
c.2100+24C>T (n.2100+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched