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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


394 records found for search term Ak7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151732421CV1378390single nucleotide variantNM_152327.5(AK7):c.871-2A>Gnot provided [RCV002041344]uncertain significance149644980096449800Humanname
152122036CV1554732single nucleotide variantNM_152327.5(AK7):c.499-8T>Cnot provided [RCV002198182]benign149642081496420814Humanname
152102902CV1560497single nucleotide variantNM_152327.5(AK7):c.871-9C>Tnot provided [RCV002152026]likely benign149644979396449793Humanname
152123538CV1641140single nucleotide variantNM_152327.5(AK7):c.498+8G>Anot provided [RCV002098492]benign149640894996408949Humanname
152120132CV1664933single nucleotide variantNM_152327.5(AK7):c.498+7A>Tnot provided [RCV002117746]likely benign149640894896408948Humanname
156404071CV1898111single nucleotide variantNM_152327.5(AK7):c.499-5A>Gnot provided [RCV002585331]likely benign149642081796420817Humanname
402495039CV2978585single nucleotide variantNM_152327.5(AK7):c.105+9C>Tnot provided [RCV003714167]likely benign149639226896392268Humanname
405013744CV2994218single nucleotide variantNM_152327.5(AK7):c.403+2T>Anot provided [RCV003694208]uncertain significance149640486796404867Humanname
402487664CV2995424single nucleotide variantNM_152327.5(AK7):c.106-7C>Anot provided [RCV003687225]uncertain significance149639806896398068Humanname
405176826CV3049367duplicationNM_152327.5(AK7):c.498+2dupnot provided [RCV003728356]uncertain significance149640894296408943Humanname
405161291CV3062381single nucleotide variantNM_152327.5(AK7):c.779+3A>Gnot provided [RCV003727038]uncertain significance149644282196442821Humanname
405101413CV3148088single nucleotide variantNM_152327.5(AK7):c.498+1G>Anot provided [RCV003852718]uncertain significance149640894296408942Humanname
405215058CV3160655single nucleotide variantNM_152327.5(AK7):c.498+4A>Tnot provided [RCV003862717]uncertain significance149640894596408945Humanname
597886913CV3741868single nucleotide variantNM_152327.5(AK7):c.498+9A>Gnot provided [RCV005070588]likely benign149640895096408950Humanname
597950607CV3759748single nucleotide variantNM_152327.5(AK7):c.870+7T>Cnot provided [RCV005079348]likely benign149644661496446614Humanname
597968397CV3761069single nucleotide variantNM_152327.5(AK7):c.295-4T>Gnot provided [RCV005083456]likely benign149640475396404753Humanname
597967442CV3824242single nucleotide variantNM_152327.5(AK7):c.780-8G>Anot provided [RCV005165465]likely benign149644650996446509Humanname
597974370CV3831601single nucleotide variantNM_152327.5(AK7):c.609+5G>Anot provided [RCV005168540]uncertain significance149642093796420937Humanname
597946482CV3841666single nucleotide variantNM_152327.5(AK7):c.404-8C>Tnot provided [RCV005189099]likely benign149640883996408839Humanname
151770294CV1454571single nucleotide variantNM_152327.5(AK7):c.690+13A>Gnot provided [RCV001950092]likely benign|uncertain significance149643792896437928Humanname
152046230CV1525816single nucleotide variantNM_152327.5(AK7):c.779+20C>Tnot provided [RCV002126675]likely benign149644283896442838Humanname
152171065CV1543933single nucleotide variantNM_152327.5(AK7):c.690+20C>Tnot provided [RCV002161979]likely benign149643793596437935Humanname
152158770CV1544270duplicationNM_152327.5(AK7):c.948+29dupnot provided [RCV002122824]benign149644989596449896Humanname
152032171CV1548938single nucleotide variantNM_152327.5(AK7):c.498+17C>Tnot provided [RCV002086524]likely benign149640895896408958Humanname
152118621CV1558185single nucleotide variantNM_152327.5(AK7):c.779+11G>Anot provided [RCV002135419]likely benign149644282996442829Humanname
152119187CV1558398single nucleotide variantNM_152327.5(AK7):c.403+20T>Cnot provided [RCV002135487]likely benign149640488596404885Humanname
152125904CV1565698duplicationNM_152327.5(AK7):c.948+16dupnot provided [RCV002136309]likely benign149644989496449895Humanname
152107379CV1579386single nucleotide variantNM_152327.5(AK7):c.294+16T>Cnot provided [RCV002173892]likely benign149639827996398279Humanname
152070830CV1628503single nucleotide variantNM_152327.5(AK7):c.403+17C>Tnot provided [RCV002169268]likely benign149640488296404882Humanname
152145414CV1649348single nucleotide variantNM_152327.5(AK7):c.871-17C>Tnot provided [RCV002120958]benign149644978596449785Humanname
152065115CV1652507single nucleotide variantNM_152327.5(AK7):c.609+13T>Gnot provided [RCV002090792]benign149642094596420945Humanname
156192665CV1904245single nucleotide variantNM_152327.5(AK7):c.1555+3A>Gnot provided [RCV002574464]uncertain significance149647275896472758Humanname
156076968CV1912457single nucleotide variantNM_152327.5(AK7):c.1753+9T>Cnot provided [RCV002591450]likely benign149647867196478671Humanname
156414948CV1955268single nucleotide variantNM_152327.5(AK7):c.105+16G>Tnot provided [RCV002588893]likely benign149639227596392275Humanname
156213474CV1963123single nucleotide variantNM_152327.5(AK7):c.690+16A>Tnot provided [RCV002575241]likely benign149643793196437931Humanname
156417255CV1970285single nucleotide variantNM_152327.5(AK7):c.871-16G>Anot provided [RCV002590092]likely benign149644978696449786Humanname
155906683CV1972178single nucleotide variantNM_152327.5(AK7):c.1556-2A>Tnot provided [RCV002613714]uncertain significance149647846396478463Humanname
156325351CV1985226single nucleotide variantNM_152327.5(AK7):c.870+20T>Cnot provided [RCV002649521]likely benign149644662796446627Humanname
156202757CV2004268single nucleotide variantNM_152327.5(AK7):c.949-15T>Anot provided [RCV002666553]likely benign149645140696451406Humanname
156139862CV2040727single nucleotide variantNM_152327.5(AK7):c.610-17T>Gnot provided [RCV002786482]likely benign149643781896437818Humanname
156234418CV2145085single nucleotide variantNM_152327.5(AK7):c.780-11T>Gnot provided [RCV003007863]likely benign149644650696446506Humanname
156227993CV2164823single nucleotide variantNM_152327.5(AK7):c.294+14G>Tnot provided [RCV003042976]likely benign149639827796398277Humanname
156069335CV2168707single nucleotide variantNM_152327.5(AK7):c.691-12T>Cnot provided [RCV003037518]likely benign149644271896442718Humanname
156316730CV2169257single nucleotide variantNM_152327.5(AK7):c.1357+8A>Gnot provided [RCV003028906]likely benign149645822096458220Humanname
402479241CV2853905single nucleotide variantNM_152327.5(AK7):c.106-14C>Gnot provided [RCV003543839]likely benign149639806196398061Humanname
405073295CV2873023single nucleotide variantNM_152327.5(AK7):c.779+10C>Tnot provided [RCV003548661]likely benign149644282896442828Humanname
405128357CV2893301single nucleotide variantNM_152327.5(AK7):c.105+10G>Tnot provided [RCV003559796]likely benign149639226996392269Humanname
402502977CV2932670single nucleotide variantNM_152327.5(AK7):c.294+20G>Tnot provided [RCV003574188]likely benign149639828396398283Humanname
402501277CV2943709single nucleotide variantNM_152327.5(AK7):c.105+16G>Anot provided [RCV003661633]likely benign149639227596392275Humanname
405092537CV2947066single nucleotide variantNM_152327.5(AK7):c.403+11T>Gnot provided [RCV003665384]likely benign149640487696404876Humanname
405163712CV2960558single nucleotide variantNM_152327.5(AK7):c.690+20C>Gnot provided [RCV003674870]likely benign149643793596437935Humanname
402487989CV2995480single nucleotide variantNM_152327.5(AK7):c.690+18G>Anot provided [RCV003687255]likely benign149643793396437933Humanname
405029843CV3012556single nucleotide variantNM_152327.5(AK7):c.1486+2T>Cnot provided [RCV003695484]uncertain significance149647160896471608Humanname
405027880CV3015539single nucleotide variantNM_152327.5(AK7):c.294+20G>Anot provided [RCV003695345]likely benign149639828396398283Humanname
405213757CV3078322single nucleotide variantNM_152327.5(AK7):c.1098+3A>Gnot provided [RCV003732364]uncertain significance149645157396451573Humanname
405168238CV3122307single nucleotide variantNM_152327.5(AK7):c.948+11G>Anot provided [RCV003818896]likely benign149644989096449890Humanname
405205857CV3126683single nucleotide variantNM_152327.5(AK7):c.498+15A>Gnot provided [RCV003822617]likely benign149640895696408956Humanname
405209933CV3145927single nucleotide variantNM_152327.5(AK7):c.1753+9T>Gnot provided [RCV003845657]likely benign149647867196478671Humanname
405191464CV3149660single nucleotide variantNM_152327.5(AK7):c.404-19C>Tnot provided [RCV003843386]likely benign149640882896408828Humanname
405148209CV3152167single nucleotide variantNM_152327.5(AK7):c.294+10G>Anot provided [RCV003856138]likely benign149639827396398273Humanname
405211882CV3173531single nucleotide variantNM_152327.5(AK7):c.779+10C>Anot provided [RCV003862280]likely benign149644282896442828Humanname
597831694CV3740069single nucleotide variantNM_152327.5(AK7):c.1098+9C>Gnot provided [RCV005062767]likely benign149645157996451579Humanname
597862032CV3745151single nucleotide variantNM_152327.5(AK7):c.105+18C>Tnot provided [RCV005067507]likely benign149639227796392277Humanname
597935494CV3759432single nucleotide variantNM_152327.5(AK7):c.948+13G>Anot provided [RCV005076552]likely benign149644989296449892Humanname
597945088CV3776775single nucleotide variantNM_152327.5(AK7):c.1099-7C>Tnot provided [RCV005119631]likely benign149645634096456340Humanname
597935732CV3807165single nucleotide variantNM_152327.5(AK7):c.403+10G>Anot provided [RCV005157736]likely benign149640487596404875Humanname
597896727CV3834637single nucleotide variantNM_152327.5(AK7):c.779+15A>Gnot provided [RCV005180548]likely benign149644283396442833Humanname
597937072CV3862636single nucleotide variantNM_152327.5(AK7):c.1974+7G>Anot provided [RCV005207908]likely benign149648322696483226Humanname
12896931CV390143single nucleotide variantNM_152327.5(AK7):c.948+12C>Tnot provided [RCV002056682]|not specified [RCV000456011]benign149644989196449891Humanname
152071573CV1544369single nucleotide variantNM_152327.5(AK7):c.1555+16T>Cnot provided [RCV002129682]benign149647277196472771Humanname
152152044CV1559787single nucleotide variantNM_152327.5(AK7):c.1975-17C>Tnot provided [RCV002220968]likely benign149648688196486881Humanname
152145900CV1564238single nucleotide variantNM_152327.5(AK7):c.1358-10T>Anot provided [RCV002138800]likely benign149647146896471468Humanname
152123609CV1587279single nucleotide variantNM_152327.5(AK7):c.1555+16T>Gnot provided [RCV002136029]likely benign149647277196472771Humanname
152075791CV1616794deletionNM_152327.5(AK7):c.1358-13delnot provided [RCV002210576]benign149647146596471465Humanname
152040455CV1644136single nucleotide variantNM_152327.5(AK7):c.1487-20G>Anot provided [RCV002126013]likely benign149647266796472667Humanname
152145869CV1649439single nucleotide variantNM_152327.5(AK7):c.1227+13A>Tnot provided [RCV002121028]likely benign149645648896456488Humanname
152121459CV1662230single nucleotide variantNM_152327.5(AK7):c.2133+19A>Tnot provided [RCV002117902]benign149648707596487075Humanname
156326748CV1956226single nucleotide variantNM_152327.5(AK7):c.1357+16C>Tnot provided [RCV002579768]likely benign149645822896458228Humanname
156332391CV1966607single nucleotide variantNM_152327.5(AK7):c.1754-17T>Cnot provided [RCV002600866]uncertain significance149648298296482982Humanname
156412154CV1969298single nucleotide variantNM_152327.5(AK7):c.1486+16C>Tnot provided [RCV002587725]benign149647162296471622Humanname
156157376CV1987911single nucleotide variantNM_152327.5(AK7):c.1099-14C>Tnot provided [RCV002642279]likely benign149645633396456333Humanname
156213265CV2018976single nucleotide variantNM_152327.5(AK7):c.1099-16C>Anot provided [RCV002700710]likely benign149645633196456331Humanname
156310110CV2063346single nucleotide variantNM_152327.5(AK7):c.2134-10T>Anot provided [RCV002834070]likely benign149648829596488295Humanname
156291675CV2065061single nucleotide variantNM_152327.5(AK7):c.2134-18T>Cnot provided [RCV002856778]likely benign149648828796488287Humanname
155988841CV2133405single nucleotide variantNM_152327.5(AK7):c.1227+12A>Gnot provided [RCV002996468]likely benign149645648796456487Humanname
405239605CV2979893duplicationNM_152327.5(AK7):c.2133+25dupnot provided [RCV003683764]benign149648707496487075Humanname
405184997CV3040332single nucleotide variantNM_152327.5(AK7):c.1753+16A>Gnot provided [RCV003705931]likely benign149647867896478678Humanname
404989393CV3179968single nucleotide variantNM_152327.5(AK7):c.1486+12T>Cnot provided [RCV003881446]likely benign149647161896471618Humanname
597888485CV3739266single nucleotide variantNM_152327.5(AK7):c.1358-20C>Tnot provided [RCV005070813]likely benign149647145896471458Humanname
597872377CV3747162single nucleotide variantNM_152327.5(AK7):c.1228-13C>Tnot provided [RCV005068846]likely benign149645807096458070Humanname
405274570CV3208952single nucleotide variantNM_152327.5(AK7):c.2134-336A>CAK7-related disorder [RCV003951729]likely benign149648796996487969Humanname , trait , alternate_id
152156940CV1586074deletionNM_152327.5(AK7):c.949-9_949-6delnot provided [RCV002140278]likely benign149645140996451412Humanname
156391989CV2005750deletionNM_152327.5(AK7):c.871-3_871-2delnot provided [RCV002680857]uncertain significance149644979896449799Humanname
155956329CV2040157duplicationNM_152327.5(AK7):c.105+4_105+9dupnot provided [RCV002776037]benign149639226296392263Humanname
597925526CV3840413deletionNM_152327.5(AK7):c.871-5_871-4delnot provided [RCV005184882]likely benign149644979796449798Humanname
152167881CV1547816single nucleotide variantNM_152327.5(AK7):c.51C>A (p.Thr17=)not provided [RCV002160975]benign149639220596392205Humanname
152051039CV1569179duplicationNM_152327.5(AK7):c.948+28_948+29dupnot provided [RCV002207526]benign149644989596449896Humanname
152083324CV1569434single nucleotide variantNM_152327.5(AK7):c.99C>A (p.Ile33=)not provided [RCV002113054]likely benign149639225396392253Humanname
152026928CV1593638single nucleotide variantNM_152327.5(AK7):c.30C>G (p.Leu10=)not provided [RCV002104721]likely benign149639218496392184Humanname
155990266CV1990458single nucleotide variantNM_152327.5(AK7):c.54G>A (p.Gln18=)not provided [RCV002617990]likely benign149639220896392208Humanname
156212509CV1997195single nucleotide variantNM_152327.5(AK7):c.33G>C (p.Thr11=)not provided [RCV002666897]likely benign149639218796392187Humanname
156231955CV2019811single nucleotide variantNM_152327.5(AK7):c.30C>T (p.Leu10=)not provided [RCV002701394]likely benign149639218496392184Humanname
156086516CV2080068single nucleotide variantNM_152327.5(AK7):c.60G>T (p.Val20=)not provided [RCV002847563]likely benign149639221496392214Humanname
156145819CV2122803deletionNM_152327.5(AK7):c.1556-9_1556-7delnot provided [RCV002954393]likely benign|uncertain significance149647845496478456Humanname
405096017CV3045552single nucleotide variantNM_152327.5(AK7):c.7G>A (p.Glu3Lys)not provided [RCV003717970]uncertain significance149639216196392161Humanname
405135953CV3115707microsatelliteNM_152327.5(AK7):c.2133+8_2133+9delnot provided [RCV003816364]likely benign149648706296487063Humanname
152031243CV1591044single nucleotide variantNM_152327.5(AK7):c.288G>A (p.Thr96=)not provided [RCV002186654]likely benign149639825796398257Humanname
156386447CV1894103single nucleotide variantNM_152327.5(AK7):c.168A>G (p.Glu56=)not provided [RCV003093727]likely benign149639813796398137Humanname
156409683CV1922819single nucleotide variantNM_152327.5(AK7):c.243G>A (p.Thr81=)not provided [RCV002607630]likely benign149639821296398212Humanname
156416601CV1976710single nucleotide variantNM_152327.5(AK7):c.273C>T (p.Asp91=)not provided [RCV002589776]likely benign149639824296398242Humanname
156223468CV2115243single nucleotide variantNM_152327.5(AK7):c.198T>G (p.Ala66=)not provided [RCV002932549]likely benign149639816796398167Humanname
405173421CV2907747single nucleotide variantNM_152327.5(AK7):c.135G>A (p.Ser45=)not provided [RCV003563326]likely benign149639810496398104Humanname
405055190CV2931927single nucleotide variantNM_152327.5(AK7):c.135G>C (p.Ser45=)not provided [RCV003580082]likely benign149639810496398104Humanname
405063083CV2939739single nucleotide variantNM_152327.5(AK7):c.22G>C (p.Ala8Pro)not provided [RCV003658923]uncertain significance149639217696392176Humanname
405192279CV3118132single nucleotide variantNM_152327.5(AK7):c.105G>A (p.Lys35=)not provided [RCV003821042]uncertain significance149639225996392259Humanname
405233117CV3145003single nucleotide variantNM_152327.5(AK7):c.25G>C (p.Ala9Pro)not provided [RCV003853260]uncertain significance149639217996392179Humanname
597873346CV3747317single nucleotide variantNM_152327.5(AK7):c.279G>A (p.Ala93=)not provided [RCV005069001]likely benign149639824896398248Humanname
597944404CV3847875single nucleotide variantNM_152327.5(AK7):c.279G>C (p.Ala93=)not provided [RCV005188604]likely benign149639824896398248Humanname
151724780CV1437146single nucleotide variantNM_152327.5(AK7):c.705C>T (p.Gly235=)not provided [RCV002004130]likely benign|uncertain significance149644274496442744Humanname
151757213CV1443492single nucleotide variantNM_152327.5(AK7):c.44T>C (p.Ile15Thr)not provided [RCV001872841]uncertain significance149639219896392198Humanname
152117238CV1524068single nucleotide variantNM_152327.5(AK7):c.354C>T (p.Asn118=)not provided [RCV002135252]likely benign149640481696404816Humanname
152101060CV1546910single nucleotide variantNM_152327.5(AK7):c.993G>A (p.Ala331=)not provided [RCV002151818]benign149645146596451465Humanname
152107774CV1578005single nucleotide variantNM_152327.5(AK7):c.819C>T (p.His273=)not provided [RCV002096417]likely benign149644655696446556Humanname
152145027CV1582605single nucleotide variantNM_152327.5(AK7):c.897G>A (p.Gly299=)not provided [RCV002201106]likely benign149644982896449828Humanname
152096771CV1599790single nucleotide variantNM_152327.5(AK7):c.507T>C (p.Ser169=)not provided [RCV002151299]benign149642083096420830Humanname
152049203CV1602275single nucleotide variantNM_152327.5(AK7):c.660G>A (p.Ala220=)AK7-related disorder [RCV003933443]|not provided [RCV002127024]likely benign149643788596437885Human1name , trait , alternate_id
152143743CV1636746single nucleotide variantNM_152327.5(AK7):c.681A>T (p.Thr227=)AK7-related disorder [RCV003933555]|not provided [RCV002120726]likely benign149643790696437906Human1name , trait , alternate_id
152126570CV1646377single nucleotide variantNM_152327.5(AK7):c.738A>G (p.Gly246=)not provided [RCV002217489]likely benign149644277796442777Humanname
152115372CV1653997single nucleotide variantNM_152327.5(AK7):c.792C>T (p.Asn264=)not provided [RCV002097405]likely benign149644652996446529Humanname
156407983CV1873152single nucleotide variantNM_152327.5(AK7):c.927A>G (p.Ala309=)not provided [RCV003071092]likely benign149644985896449858Humanname
156050036CV1884356single nucleotide variantNM_152327.5(AK7):c.903C>A (p.Ile301=)not provided [RCV003078838]likely benign149644983496449834Humanname
156274132CV1957322deletionNM_152327.5(AK7):c.1486+18_1486+22delnot provided [RCV002577264]likely benign149647162396471627Humanname
156398354CV1965892deletionNM_152327.5(AK7):c.1974+18_1974+21delnot provided [RCV002584608]likely benign149648323496483237Humanname
156078337CV1975588single nucleotide variantNM_152327.5(AK7):c.768T>C (p.Leu256=)not provided [RCV002621461]likely benign149644280796442807Humanname
156388247CV1983148single nucleotide variantNM_152327.5(AK7):c.996C>G (p.Leu332=)not provided [RCV002634766]likely benign149645146896451468Humanname
156103591CV1992092single nucleotide variantNM_152327.5(AK7):c.804C>T (p.His268=)not provided [RCV002622305]likely benign149644654196446541Humanname
156103512CV2011715single nucleotide variantNM_152327.5(AK7):c.357C>T (p.Ile119=)not provided [RCV002695396]likely benign149640481996404819Humanname
155972149CV2079286single nucleotide variantNM_152327.5(AK7):c.459G>A (p.Ser153=)not provided [RCV002881538]likely benign149640890296408902Humanname
156159483CV2096801single nucleotide variantNM_152327.5(AK7):c.996C>A (p.Leu332=)not provided [RCV002872603]likely benign149645146896451468Humanname
156161750CV2136845single nucleotide variantNM_152327.5(AK7):c.402T>C (p.Ser134=)not provided [RCV003005089]uncertain significance149640486496404864Humanname
401902253CV2807217single nucleotide variantNM_152327.5(AK7):c.471T>C (p.Thr157=)not provided [RCV003393595]likely benign149640891496408914Humanname
405217371CV2873467single nucleotide variantNM_152327.5(AK7):c.639T>C (p.Ala213=)not provided [RCV003553396]likely benign149643786496437864Humanname
402521090CV2902828single nucleotide variantNM_152327.5(AK7):c.609G>A (p.Lys203=)not provided [RCV003575860]uncertain significance149642093296420932Humanname
405100604CV2948028single nucleotide variantNM_152327.5(AK7):c.546G>A (p.Lys182=)not provided [RCV003666052]likely benign149642086996420869Humanname
405138724CV2954492single nucleotide variantNM_152327.5(AK7):c.603A>G (p.Gly201=)not provided [RCV003672970]likely benign149642092696420926Humanname
405162068CV3021585single nucleotide variantNM_152327.5(AK7):c.657A>G (p.Gly219=)not provided [RCV003703982]likely benign149643788296437882Humanname
405048962CV3025391single nucleotide variantNM_152327.5(AK7):c.696T>A (p.Ala232=)not provided [RCV003696868]likely benign149644273596442735Humanname
405040231CV3063872single nucleotide variantNM_152327.5(AK7):c.82T>A (p.Tyr28Asn)not provided [RCV003739859]uncertain significance149639223696392236Humanname
405213788CV3128300single nucleotide variantNM_152327.5(AK7):c.498C>A (p.Pro166=)not provided [RCV003823724]uncertain significance149640894196408941Humanname
405227291CV3169490single nucleotide variantNM_152327.5(AK7):c.648C>T (p.Leu216=)not provided [RCV003864514]likely benign149643787396437873Humanname
402471039CV3171471single nucleotide variantNM_152327.5(AK7):c.477G>A (p.Ala159=)not provided [RCV003874255]likely benign149640892096408920Humanname
597867508CV3739088single nucleotide variantNM_152327.5(AK7):c.453A>G (p.Leu151=)not provided [RCV005068155]likely benign149640889696408896Humanname
597884762CV3745487single nucleotide variantNM_152327.5(AK7):c.732C>T (p.Gly244=)not provided [RCV005070323]likely benign149644277196442771Humanname
597918786CV3842510single nucleotide variantNM_152327.5(AK7):c.873T>C (p.Cys291=)not provided [RCV005183995]likely benign149644980496449804Humanname
151814033CV1366511single nucleotide variantNM_152327.5(AK7):c.223A>C (p.Thr75Pro)not provided [RCV001933487]|not specified [RCV004917747]uncertain significance149639819296398192Humanname
151859300CV1398422single nucleotide variantNM_152327.5(AK7):c.265C>T (p.Arg89Trp)not provided [RCV002017558]uncertain significance149639823496398234Humanname
151887921CV1434285single nucleotide variantNM_152327.5(AK7):c.286A>G (p.Thr96Ala)not provided [RCV001887857]uncertain significance149639825596398255Humanname
151860585CV1438548single nucleotide variantNM_152327.5(AK7):c.266G>A (p.Arg89Gln)not provided [RCV001923944]|not specified [RCV004616880]likely benign|uncertain significance149639823596398235Humanname
152115686CV1526263single nucleotide variantNM_152327.5(AK7):c.1257G>A (p.Gly419=)not provided [RCV002174895]likely benign149645811296458112Humanname
152064032CV1535721single nucleotide variantNM_152327.5(AK7):c.1521C>A (p.Gly507=)not provided [RCV002168376]likely benign149647272196472721Humanname
152071610CV1544378single nucleotide variantNM_152327.5(AK7):c.1632G>A (p.Ala544=)not provided [RCV002129686]benign149647854196478541Humanname
152104436CV1544691single nucleotide variantNM_152327.5(AK7):c.1368C>T (p.Asp456=)not provided [RCV002115762]benign149647148896471488Humanname
152039046CV1555105single nucleotide variantNM_152327.5(AK7):c.1743G>A (p.Pro581=)not provided [RCV002107462]benign149647865296478652Humanname
152074205CV1556818single nucleotide variantNM_152327.5(AK7):c.1626C>T (p.Ile542=)not provided [RCV002111871]likely benign149647853596478535Humanname
152105476CV1574986single nucleotide variantNM_152327.5(AK7):c.1476C>T (p.Asp492=)not provided [RCV002096100]likely benign149647159696471596Humanname
152170600CV1592501single nucleotide variantNM_152327.5(AK7):c.1311A>G (p.Ala437=)not provided [RCV002161827]benign149645816696458166Humanname
152106751CV1609690single nucleotide variantNM_152327.5(AK7):c.1071G>A (p.Lys357=)not provided [RCV002116024]benign149645154396451543Humanname
152115343CV1628207single nucleotide variantNM_152327.5(AK7):c.1845C>T (p.Asp615=)AK7-related disorder [RCV003911252]|not provided [RCV002197324]likely benign149648309096483090Human1name , trait , alternate_id
156324310CV1871029single nucleotide variantNM_152327.5(AK7):c.2103C>T (p.Asn701=)not provided [RCV003063294]likely benign149648702696487026Humanname
156099371CV1896704single nucleotide variantNM_152327.5(AK7):c.285G>C (p.Glu95Asp)not provided [RCV003080541]|not specified [RCV004073274]uncertain significance149639825496398254Humanname
156322311CV1897952single nucleotide variantNM_152327.5(AK7):c.1248C>T (p.Asn416=)not provided [RCV002579329]likely benign149645810396458103Humanname
156375099CV1899311single nucleotide variantNM_152327.5(AK7):c.2112C>T (p.Pro704=)not provided [RCV003092795]likely benign149648703596487035Humanname
156371862CV1901464single nucleotide variantNM_152327.5(AK7):c.205A>T (p.Thr69Ser)not provided [RCV002582479]uncertain significance149639817496398174Humanname
156296000CV1904711single nucleotide variantNM_152327.5(AK7):c.242C>T (p.Thr81Met)not provided [RCV002588038]|not specified [RCV004073402]uncertain significance149639821196398211Humanname
155939090CV1913432single nucleotide variantNM_152327.5(AK7):c.1225C>T (p.Leu409=)not provided [RCV002615510]likely benign149645647396456473Humanname
156200790CV1916759single nucleotide variantNM_152327.5(AK7):c.1581G>T (p.Ser527=)not provided [RCV002595695]likely benign149647849096478490Humanname
155949904CV1921877single nucleotide variantNM_152327.5(AK7):c.1068C>T (p.Leu356=)not provided [RCV002616166]likely benign149645154096451540Humanname
156180807CV1953457single nucleotide variantNM_152327.5(AK7):c.100G>A (p.Gly34Arg)not provided [RCV002574107]uncertain significance149639225496392254Humanname
156155089CV1987658single nucleotide variantNM_152327.5(AK7):c.1233G>A (p.Ala411=)not provided [RCV002642204]uncertain significance149645808896458088Humanname
156390708CV1998825single nucleotide variantNM_152327.5(AK7):c.1905T>G (p.Ala635=)not provided [RCV002680734]likely benign149648315096483150Humanname
156260402CV2049495single nucleotide variantNM_152327.5(AK7):c.1617T>C (p.Pro539=)not provided [RCV002806307]likely benign149647852696478526Humanname
156100299CV2099238single nucleotide variantNM_152327.5(AK7):c.1452A>G (p.Pro484=)AK7-related disorder [RCV003943538]|not provided [RCV002913377]benign|likely benign149647157296471572Human1name , trait , alternate_id
156293565CV2111534single nucleotide variantNM_152327.5(AK7):c.2058C>T (p.Thr686=)not provided [RCV002922254]likely benign149648698196486981Humanname
156144058CV2122581single nucleotide variantNM_152327.5(AK7):c.1698C>T (p.Asp566=)AK7-related disorder [RCV003943648]|not provided [RCV002954334]likely benign149647860796478607Human1name , trait , alternate_id
156171548CV2312587single nucleotide variantNM_152327.5(AK7):c.212T>G (p.Val71Gly)not provided [RCV003777952]|not specified [RCV004169327]uncertain significance149639818196398181Humanname
329384901CV2454512single nucleotide variantNM_152327.5(AK7):c.295G>C (p.Ala99Pro)not specified [RCV004268004]uncertain significance149640475796404757Humanname
405146640CV2881498single nucleotide variantNM_152327.5(AK7):c.1605G>A (p.Val535=)not provided [RCV003561400]likely benign149647851496478514Humanname
405184123CV2920226single nucleotide variantNM_152327.5(AK7):c.1905T>C (p.Ala635=)not provided [RCV003564207]likely benign149648315096483150Humanname
405139834CV3045872single nucleotide variantNM_152327.5(AK7):c.1695C>T (p.Ile565=)AK7-related disorder [RCV003901321]|not provided [RCV003725551]likely benign149647860496478604Human1name , trait , alternate_id
405133833CV3051826single nucleotide variantNM_152327.5(AK7):c.1800G>A (p.Gln600=)not provided [RCV003725065]likely benign149648304596483045Humanname
405200353CV3056617single nucleotide variantNM_152327.5(AK7):c.1875T>C (p.Ala625=)not provided [RCV003730596]likely benign149648312096483120Humanname
405194530CV3062838single nucleotide variantNM_152327.5(AK7):c.1104C>T (p.Ile368=)not provided [RCV003730046]likely benign149645635296456352Humanname
405144934CV3122693single nucleotide variantNM_152327.5(AK7):c.1275C>T (p.Val425=)not provided [RCV003817115]likely benign149645813096458130Humanname
405111843CV3137355single nucleotide variantNM_152327.5(AK7):c.1962C>T (p.Arg654=)not provided [RCV003836318]likely benign149648320796483207Humanname
405064699CV3139731single nucleotide variantNM_152327.5(AK7):c.1869G>C (p.Arg623=)not provided [RCV003833078]likely benign149648311496483114Humanname
405105727CV3139936single nucleotide variantNM_152327.5(AK7):c.2070A>G (p.Pro690=)not provided [RCV003835347]likely benign149648699396486993Humanname
405223664CV3158453single nucleotide variantNM_152327.5(AK7):c.287C>T (p.Thr96Met)not provided [RCV003863949]uncertain significance149639825696398256Humanname
405214952CV3160642single nucleotide variantNM_152327.5(AK7):c.1701T>C (p.Asp567=)not provided [RCV003862704]likely benign149647861096478610Humanname
405128836CV3163226single nucleotide variantNM_152327.5(AK7):c.278C>T (p.Ala93Val)not provided [RCV003854407]uncertain significance149639824796398247Humanname
402522778CV3175762single nucleotide variantNM_152327.5(AK7):c.287C>G (p.Thr96Arg)not provided [RCV003879862]uncertain significance149639825696398256Humanname
402512105CV3178435single nucleotide variantNM_152327.5(AK7):c.277G>A (p.Ala93Thr)not provided [RCV003879052]uncertain significance149639824696398246Humanname
405707662CV3225409single nucleotide variantNM_152327.5(AK7):c.289T>C (p.Tyr97His)Spermatogenic failure 27 [RCV003990463]uncertain significance149639825896398258Human1name
405775106CV3273456single nucleotide variantNM_152327.5(AK7):c.248C>G (p.Ser83Cys)not specified [RCV004396620]uncertain significance149639821796398217Humanname
597967850CV3752120single nucleotide variantNM_152327.5(AK7):c.1920C>T (p.Arg640=)not provided [RCV005083314]likely benign149648316596483165Humanname
597956015CV3754521single nucleotide variantNM_152327.5(AK7):c.1560C>T (p.Phe520=)not provided [RCV005080371]likely benign149647846996478469Humanname
597847741CV3762079single nucleotide variantNM_152327.5(AK7):c.1530T>C (p.Phe510=)not provided [RCV005087497]likely benign149647273096472730Humanname
597947945CV3800830single nucleotide variantNM_152327.5(AK7):c.1581G>A (p.Ser527=)not provided [RCV005135230]likely benign149647849096478490Humanname
597959627CV3811423single nucleotide variantNM_152327.5(AK7):c.1512T>C (p.Asp504=)not provided [RCV005163269]likely benign149647271296472712Humanname
597973671CV3820643single nucleotide variantNM_152327.5(AK7):c.1644C>T (p.Tyr548=)not provided [RCV005168160]likely benign149647855396478553Humanname
597900339CV3835362single nucleotide variantNM_152327.5(AK7):c.185C>T (p.Ala62Val)not provided [RCV005181085]uncertain significance149639815496398154Humanname
597957799CV3848954single nucleotide variantNM_152327.5(AK7):c.1062T>C (p.Thr354=)not provided [RCV005191955]likely benign149645153496451534Humanname
8635362CV90584single nucleotide variantNM_152327.3(AK7):c.2145C>T (p.Leu715=)Malignant melanoma [RCV000070682]not provided149648831696488316Humanname
151760676CV1358024single nucleotide variantNM_152327.5(AK7):c.805G>A (p.Val269Met)not provided [RCV001928473]uncertain significance149644654296446542Humanname
151778318CV1380041single nucleotide variantNM_152327.5(AK7):c.455T>C (p.Leu152Pro)AK7-related disorder [RCV003968662]|not provided [RCV001950823]likely benign149640889896408898Human1name , trait , alternate_id
151876486CV1461402single nucleotide variantNM_152327.5(AK7):c.310G>T (p.Asp104Tyr)not provided [RCV001925880]|not specified [RCV004043388]uncertain significance149640477296404772Humanname
151734646CV1508721single nucleotide variantNM_152327.5(AK7):c.818A>G (p.His273Arg)not provided [RCV002021659]uncertain significance149644655596446555Humanname
152159324CV1621141single nucleotide variantNM_152327.5(AK7):c.659C>T (p.Ala220Val)not provided [RCV002203161]likely benign149643788496437884Humanname
156412386CV1890548single nucleotide variantNM_152327.5(AK7):c.458C>T (p.Ser153Leu)not provided [RCV003072871]uncertain significance149640890196408901Humanname
156356456CV1926916single nucleotide variantNM_152327.5(AK7):c.992C>T (p.Ala331Val)not provided [RCV002651318]uncertain significance149645146496451464Humanname
156304870CV1931253single nucleotide variantNM_152327.5(AK7):c.596A>G (p.Lys199Arg)not provided [RCV002647834]uncertain significance149642091996420919Humanname
156442201CV1938186single nucleotide variantNM_152327.5(AK7):c.631G>A (p.Val211Ile)not provided [RCV003112540]|not specified [RCV004244635]uncertain significance149643785696437856Humanname
156164633CV1986138single nucleotide variantNM_152327.5(AK7):c.304C>T (p.Arg102Ter)not provided [RCV002642532]uncertain significance149640476696404766Humanname
156110579CV1996996single nucleotide variantNM_152327.5(AK7):c.568C>T (p.His190Tyr)not provided [RCV002662472]uncertain significance149642089196420891Humanname
156372576CV2003574single nucleotide variantNM_152327.5(AK7):c.341T>A (p.Val114Asp)not provided [RCV002653025]uncertain significance149640480396404803Humanname
156127646CV2005526single nucleotide variantNM_152327.5(AK7):c.364A>C (p.Ser122Arg)not provided [RCV002663098]|not specified [RCV004917795]uncertain significance149640482696404826Humanname
156322202CV2014649single nucleotide variantNM_152327.5(AK7):c.535C>T (p.Arg179Ter)not provided [RCV002672276]uncertain significance149642085896420858Humanname
155979288CV2028742single nucleotide variantNM_152327.5(AK7):c.665G>A (p.Gly222Glu)not provided [RCV002755251]uncertain significance149643789096437890Humanname
156340344CV2055337single nucleotide variantNM_152327.5(AK7):c.776C>T (p.Ala259Val)not provided [RCV002811164]uncertain significance149644281596442815Humanname
156255832CV2060659single nucleotide variantNM_152327.5(AK7):c.722C>T (p.Pro241Leu)not provided [RCV002791848]uncertain significance149644276196442761Humanname
155968019CV2082893single nucleotide variantNM_152327.5(AK7):c.310G>C (p.Asp104His)not provided [RCV002881350]uncertain significance149640477296404772Humanname
156246792CV2119570single nucleotide variantNM_152327.5(AK7):c.323G>T (p.Arg108Leu)not provided [RCV002959063]uncertain significance149640478596404785Humanname
156039552CV2121364single nucleotide variantNM_152327.5(AK7):c.712C>G (p.Pro238Ala)not provided [RCV002923858]uncertain significance149644275196442751Humanname
155913677CV2149582single nucleotide variantNM_152327.5(AK7):c.638C>G (p.Ala213Gly)not provided [RCV003012440]uncertain significance149643786396437863Humanname
156303098CV2156678single nucleotide variantNM_152327.5(AK7):c.802C>T (p.His268Tyr)not provided [RCV003010480]uncertain significance149644653996446539Humanname
156253035CV2232471single nucleotide variantNM_152327.5(AK7):c.793G>T (p.Val265Phe)not specified [RCV004099083]uncertain significance149644653096446530Humanname
155970525CV2392257single nucleotide variantNM_152327.5(AK7):c.796A>G (p.Ile266Val)not specified [RCV004243866]uncertain significance149644653396446533Humanname
329361299CV2459599single nucleotide variantNM_152327.5(AK7):c.733G>A (p.Asp245Asn)not specified [RCV004277046]uncertain significance149644277296442772Humanname
329353354CV2468988single nucleotide variantNM_152327.5(AK7):c.929A>G (p.Tyr310Cys)not specified [RCV004274251]uncertain significance149644986096449860Humanname
401721897CV2680730single nucleotide variantNM_152327.5(AK7):c.323G>A (p.Arg108His)not provided [RCV003549035]|not specified [RCV004291339]uncertain significance149640478596404785Humanname
401773053CV2709097single nucleotide variantNM_152327.5(AK7):c.447T>G (p.Phe149Leu)not specified [RCV004314432]uncertain significance149640889096408890Humanname
401751355CV2716363single nucleotide variantNM_152327.5(AK7):c.584A>T (p.Lys195Ile)not specified [RCV004325358]uncertain significance149642090796420907Humanname
402487751CV2928402single nucleotide variantNM_152327.5(AK7):c.517T>C (p.Phe173Leu)not provided [RCV003572590]uncertain significance149642084096420840Humanname
405081697CV2941889single nucleotide variantNM_152327.5(AK7):c.436C>T (p.Arg146Ter)not provided [RCV003664665]uncertain significance149640887996408879Humanname
402512889CV2948413single nucleotide variantNM_152327.5(AK7):c.377T>G (p.Met126Arg)not provided [RCV003662644]uncertain significance149640483996404839Humanname
402490960CV2949068single nucleotide variantNM_152327.5(AK7):c.952G>A (p.Asp318Asn)not provided [RCV003660541]uncertain significance149645142496451424Humanname
405152436CV2950467single nucleotide variantNM_152327.5(AK7):c.866T>G (p.Val289Gly)not provided [RCV003670126]uncertain significance149644660396446603Humanname
405152104CV2957019single nucleotide variantNM_152327.5(AK7):c.986T>C (p.Met329Thr)not provided [RCV003670035]uncertain significance149645145896451458Humanname
405194905CV2985949single nucleotide variantNM_152327.5(AK7):c.334T>G (p.Cys112Gly)not provided [RCV003706754]uncertain significance149640479696404796Humanname
405092193CV3044779single nucleotide variantNM_152327.5(AK7):c.670A>G (p.Met224Val)not provided [RCV003717786]uncertain significance149643789596437895Humanname
405251639CV3046197single nucleotide variantNM_152327.5(AK7):c.706G>A (p.Glu236Lys)not provided [RCV003721959]uncertain significance149644274596442745Humanname
405147835CV3067444single nucleotide variantNM_152327.5(AK7):c.668G>A (p.Gly223Asp)not provided [RCV003726193]uncertain significance149643789396437893Humanname
405073266CV3145485single nucleotide variantNM_152327.5(AK7):c.957T>A (p.Cys319Ter)not provided [RCV003851070]uncertain significance149645142996451429Humanname
405211596CV3146371single nucleotide variantNM_152327.5(AK7):c.917G>C (p.Arg306Thr)not provided [RCV003845902]uncertain significance149644984896449848Humanname
405204302CV3165523single nucleotide variantNM_152327.5(AK7):c.973G>T (p.Val325Phe)not provided [RCV003861189]uncertain significance149645144596451445Humanname
405241935CV3173216single nucleotide variantNM_152327.5(AK7):c.548C>T (p.Ser183Phe)not provided [RCV003867501]uncertain significance149642087196420871Humanname
405775346CV3273497single nucleotide variantNM_152327.5(AK7):c.457T>C (p.Ser153Pro)not specified [RCV004396661]uncertain significance149640890096408900Humanname
405775431CV3273511single nucleotide variantNM_152327.5(AK7):c.611C>T (p.Ala204Val)not specified [RCV004396675]likely benign149643783696437836Humanname
407495425CV3443104single nucleotide variantNM_152327.5(AK7):c.950A>C (p.Gln317Pro)not specified [RCV004621596]uncertain significance149645142296451422Humanname
597883069CV3764304single nucleotide variantNM_152327.5(AK7):c.437G>A (p.Arg146Gln)not provided [RCV005109522]uncertain significance149640888096408880Humanname
597926490CV3783316single nucleotide variantNM_152327.5(AK7):c.419T>C (p.Val140Ala)not provided [RCV005116002]uncertain significance149640886296408862Humanname
597952949CV3843870single nucleotide variantNM_152327.5(AK7):c.634G>T (p.Val212Phe)not provided [RCV005190732]uncertain significance149643785996437859Humanname
597953171CV3843921single nucleotide variantNM_152327.5(AK7):c.863T>C (p.Ile288Thr)not provided [RCV005190783]uncertain significance149644660096446600Humanname
598125094CV3883804duplicationNM_152327.5(AK7):c.1020dup (p.Arg341fs)not provided [RCV005236159]uncertain significance149645149096451491Humanname
12896586CV390118single nucleotide variantNM_152327.5(AK7):c.305G>A (p.Arg102Gln)not provided [RCV002056681]|not specified [RCV000455552]benign149640476796404767Humanname
598212010CV3965590single nucleotide variantNM_152327.5(AK7):c.956G>A (p.Cys319Tyr)not specified [RCV005339015]uncertain significance149645142896451428Humanname
8654980CV75615duplicationNM_152327.5(AK7):c.1171dup (p.Tyr391fs)Primary ciliary dyskinesia [RCV000054831]uncertain significance149645641896456419Human1name
8635361CV90583single nucleotide variantNM_152327.3(AK7):c.602G>A (p.Gly201Glu)Malignant melanoma [RCV000070681]not provided149642092596420925Humanname
151747864CV1345473single nucleotide variantNM_152327.5(AK7):c.2104G>A (p.Val702Ile)not provided [RCV001893997]uncertain significance149648702796487027Humanname
151836175CV1351144single nucleotide variantNM_152327.5(AK7):c.1460A>G (p.Tyr487Cys)not provided [RCV002014811]|not specified [RCV004043961]uncertain significance149647158096471580Humanname
151751960CV1357509single nucleotide variantNM_152327.5(AK7):c.1997A>G (p.Lys666Arg)not provided [RCV001894423]uncertain significance149648692096486920Humanname
151833795CV1396415single nucleotide variantNM_152327.5(AK7):c.1165A>G (p.Asn389Asp)not provided [RCV001902072]uncertain significance149645641396456413Humanname
151767241CV1415083single nucleotide variantNM_152327.5(AK7):c.1727A>G (p.Glu576Gly)not provided [RCV001929170]uncertain significance149647863696478636Humanname
151800029CV1417569single nucleotide variantNM_152327.5(AK7):c.1657T>A (p.Phe553Ile)not provided [RCV002047897]|not specified [RCV004046132]uncertain significance149647856696478566Humanname
151752143CV1426828single nucleotide variantNM_152327.5(AK7):c.1385G>C (p.Arg462Thr)not provided [RCV002006970]uncertain significance149647150596471505Humanname
151884700CV1432683single nucleotide variantNM_152327.5(AK7):c.2024C>T (p.Ala675Val)not provided [RCV002000330]|not specified [RCV004042423]uncertain significance149648694796486947Humanname
151769603CV1451012single nucleotide variantNM_152327.5(AK7):c.1198G>A (p.Asp400Asn)not provided [RCV001929386]uncertain significance149645644696456446Humanname
151757456CV1475079single nucleotide variantNM_152327.5(AK7):c.1565G>A (p.Cys522Tyr)not provided [RCV001969811]uncertain significance149647847496478474Humanname
151710236CV1487230single nucleotide variantNM_152327.5(AK7):c.1123C>T (p.Pro375Ser)not provided [RCV001889219]uncertain significance149645637196456371Humanname
151785555CV1499196single nucleotide variantNM_152327.5(AK7):c.1696G>A (p.Asp566Asn)not provided [RCV002026677]uncertain significance149647860596478605Humanname
152046780CV1527231single nucleotide variantNM_152327.5(AK7):c.1561G>A (p.Val521Ile)not provided [RCV002166365]likely benign149647847096478470Humanname
152118542CV1540371single nucleotide variantNM_152327.5(AK7):c.1078A>G (p.Lys360Glu)AK7-related disorder [RCV003913651]|not provided [RCV002097829]benign|likely benign149645155096451550Human1name , trait , alternate_id
152087289CV1589969single nucleotide variantNM_152327.5(AK7):c.1936G>A (p.Val646Met)not provided [RCV002193801]likely benign149648318196483181Humanname
156417666CV1909946single nucleotide variantNM_152327.5(AK7):c.2075T>G (p.Leu692Arg)not provided [RCV002610839]uncertain significance149648699896486998Humanname
156405318CV1913043single nucleotide variantNM_152327.5(AK7):c.1845C>A (p.Asp615Glu)not provided [RCV002606302]uncertain significance149648309096483090Humanname
156205034CV1922679single nucleotide variantNM_152327.5(AK7):c.1709T>C (p.Val570Ala)not provided [RCV002643776]uncertain significance149647861896478618Humanname
156419429CV1932879single nucleotide variantNM_152327.5(AK7):c.1340G>T (p.Ser447Ile)not provided [RCV002612663]uncertain significance149645819596458195Humanname
156032038CV1940905single nucleotide variantNM_152327.5(AK7):c.1022G>A (p.Arg341Gln)not provided [RCV003111690]|not specified [RCV004135029]uncertain significance149645149496451494Humanname
156191532CV1945334single nucleotide variantNM_152327.5(AK7):c.1886G>A (p.Arg629Gln)not provided [RCV003111742]|not specified [RCV004204247]uncertain significance149648313196483131Humanname
156442728CV1948837single nucleotide variantNM_152327.5(AK7):c.1699G>A (p.Asp567Asn)not provided [RCV003113080]|not specified [RCV004917837]uncertain significance149647860896478608Humanname
156116348CV1952377single nucleotide variantNM_152327.5(AK7):c.1369G>A (p.Asp457Asn)not provided [RCV002571688]uncertain significance149647148996471489Humanname
156087245CV1953291single nucleotide variantNM_152327.5(AK7):c.1640A>G (p.His547Arg)not provided [RCV002570101]uncertain significance149647854996478549Humanname
156138187CV1963024single nucleotide variantNM_152327.5(AK7):c.1276G>A (p.Glu426Lys)not provided [RCV002572473]uncertain significance149645813196458131Humanname
156344488CV1970435single nucleotide variantNM_152327.5(AK7):c.1627G>A (p.Val543Met)not provided [RCV002601456]|not specified [RCV004065641]uncertain significance149647853696478536Humanname
156321815CV1976166single nucleotide variantNM_152327.5(AK7):c.1186A>G (p.Ile396Val)not provided [RCV002600281]uncertain significance149645643496456434Humanname
156330145CV1992737single nucleotide variantNM_152327.5(AK7):c.1016A>G (p.Asn339Ser)not provided [RCV002649773]uncertain significance149645148896451488Humanname
156101762CV2001119single nucleotide variantNM_152327.5(AK7):c.1451C>T (p.Pro484Leu)not provided [RCV002639609]uncertain significance149647157196471571Humanname
156226255CV2009490single nucleotide variantNM_152327.5(AK7):c.1075T>C (p.Tyr359His)not provided [RCV002701193]uncertain significance149645154796451547Humanname
156080848CV2011991single nucleotide variantNM_152327.5(AK7):c.1061C>T (p.Thr354Ile)not provided [RCV002705985]uncertain significance149645153396451533Humanname
156286444CV2012819single nucleotide variantNM_152327.5(AK7):c.2095T>A (p.Cys699Ser)not provided [RCV002715480]uncertain significance149648701896487018Humanname
155907332CV2027692single nucleotide variantNM_152327.5(AK7):c.1144A>G (p.Ser382Gly)not provided [RCV002726553]uncertain significance149645639296456392Humanname
156208088CV2042386single nucleotide variantNM_152327.5(AK7):c.1040G>A (p.Gly347Glu)not provided [RCV002766494]uncertain significance149645151296451512Humanname
156175854CV2052028single nucleotide variantNM_152327.5(AK7):c.1825C>G (p.Arg609Gly)not provided [RCV002828141]uncertain significance149648307096483070Humanname
156108331CV2072464single nucleotide variantNM_152327.5(AK7):c.1216A>C (p.Ile406Leu)not provided [RCV002870798]uncertain significance149645646496456464Humanname
155949996CV2084286single nucleotide variantNM_152327.5(AK7):c.1313A>T (p.Gln438Leu)not provided [RCV002880445]uncertain significance149645816896458168Humanname
156247093CV2106328single nucleotide variantNM_152327.5(AK7):c.1682G>A (p.Arg561Gln)not provided [RCV002933411]uncertain significance149647859196478591Humanname
156215562CV2110927single nucleotide variantNM_152327.5(AK7):c.1181A>G (p.His394Arg)AK7-related disorder [RCV003906316]|not provided [RCV002932245]benign149645642996456429Human1name , trait , alternate_id
156130227CV2125105single nucleotide variantNM_152327.5(AK7):c.1846G>A (p.Glu616Lys)not provided [RCV002953850]likely benign149648309196483091Humanname
156094493CV2135718single nucleotide variantNM_152327.5(AK7):c.1249G>A (p.Asp417Asn)not provided [RCV003001962]|not specified [RCV004065239]uncertain significance149645810496458104Humanname
155912274CV2141786single nucleotide variantNM_152327.5(AK7):c.1826G>A (p.Arg609Gln)not provided [RCV002968143]uncertain significance149648307196483071Humanname
156158115CV2147169single nucleotide variantNM_152327.5(AK7):c.1627G>C (p.Val543Leu)not provided [RCV003023090]uncertain significance149647853696478536Humanname
156243763CV2148902single nucleotide variantNM_152327.5(AK7):c.1825C>T (p.Arg609Ter)not provided [RCV003008195]uncertain significance149648307096483070Humanname
156130224CV2151923single nucleotide variantNM_152327.5(AK7):c.2060A>G (p.Tyr687Cys)not provided [RCV003003329]uncertain significance149648698396486983Humanname
156386898CV2221348single nucleotide variantNM_152327.5(AK7):c.1651G>A (p.Asp551Asn)not specified [RCV004095028]uncertain significance149647856096478560Humanname
155976027CV2235977single nucleotide variantNM_152327.5(AK7):c.1327G>A (p.Gly443Ser)not specified [RCV004113854]uncertain significance149645818296458182Humanname
155983375CV2240722single nucleotide variantNM_152327.5(AK7):c.1918C>T (p.Arg640Cys)not specified [RCV004119341]uncertain significance149648316396483163Humanname
155998284CV2287132single nucleotide variantNM_152327.5(AK7):c.1702G>A (p.Glu568Lys)not specified [RCV004144998]uncertain significance149647861196478611Humanname
156278845CV2297523single nucleotide variantNM_152327.5(AK7):c.1580C>T (p.Ser527Leu)not specified [RCV004153446]uncertain significance149647848996478489Humanname
155922880CV2347400single nucleotide variantNM_152327.5(AK7):c.1729C>T (p.Leu577Phe)not specified [RCV004207239]uncertain significance149647863896478638Humanname
155938237CV2380647single nucleotide variantNM_152327.5(AK7):c.1682G>C (p.Arg561Pro)not specified [RCV004218236]uncertain significance149647859196478591Humanname
329370836CV2435702single nucleotide variantNM_152327.5(AK7):c.1418G>T (p.Cys473Phe)not provided [RCV003730434]|not specified [RCV004254935]uncertain significance149647153896471538Humanname
329381064CV2464480single nucleotide variantNM_152327.5(AK7):c.1474G>T (p.Asp492Tyr)not specified [RCV004276401]uncertain significance149647159496471594Humanname
401739329CV2722107single nucleotide variantNM_152327.5(AK7):c.1442A>G (p.Asp481Gly)not specified [RCV004328367]uncertain significance149647156296471562Humanname
402525289CV2868251single nucleotide variantNM_152327.5(AK7):c.1597G>A (p.Glu533Lys)not provided [RCV003547961]likely benign149647850696478506Humanname
405067681CV2875547single nucleotide variantNM_152327.5(AK7):c.2146T>C (p.Phe716Leu)not provided [RCV003548339]uncertain significance149648831796488317Humanname
402504562CV2880106single nucleotide variantNM_152327.5(AK7):c.1058A>C (p.Asn353Thr)not provided [RCV003546239]uncertain significance149645153096451530Humanname
405209608CV2910213single nucleotide variantNM_152327.5(AK7):c.1232C>G (p.Ala411Gly)not provided [RCV003566974]uncertain significance149645808796458087Humanname
402465991CV2913821single nucleotide variantNM_152327.5(AK7):c.1877C>T (p.Ala626Val)not provided [RCV003569290]|not specified [RCV004917858]uncertain significance149648312296483122Humanname
402500689CV2923109single nucleotide variantNM_152327.5(AK7):c.1364T>C (p.Leu455Pro)not provided [RCV003573956]uncertain significance149647148496471484Humanname
405066795CV2936701single nucleotide variantNM_152327.5(AK7):c.1273G>T (p.Val425Phe)not provided [RCV003659172]uncertain significance149645812896458128Humanname
405100311CV2937944single nucleotide variantNM_152327.5(AK7):c.1885C>T (p.Arg629Trp)not provided [RCV003665720]uncertain significance149648313096483130Humanname
405101617CV2942016single nucleotide variantNM_152327.5(AK7):c.1598A>T (p.Glu533Val)not provided [RCV003666228]uncertain significance149647850796478507Humanname
404983535CV2989749single nucleotide variantNM_152327.5(AK7):c.1513G>T (p.Val505Phe)not provided [RCV003691561]uncertain significance149647271396472713Humanname
405206731CV2994371single nucleotide variantNM_152327.5(AK7):c.1901C>T (p.Ala634Val)not provided [RCV003678833]uncertain significance149648314696483146Humanname
405002967CV3016248single nucleotide variantNM_152327.5(AK7):c.1252G>A (p.Val418Ile)not provided [RCV003693350]uncertain significance149645810796458107Humanname
405235557CV3040924single nucleotide variantNM_152327.5(AK7):c.1386A>T (p.Arg462Ser)not provided [RCV003712293]uncertain significance149647150696471506Humanname
405253144CV3044306single nucleotide variantNM_152327.5(AK7):c.1592T>C (p.Leu531Pro)not provided [RCV003722439]uncertain significance149647850196478501Humanname
405246096CV3051784single nucleotide variantNM_152327.5(AK7):c.1867C>T (p.Arg623Trp)not provided [RCV003720460]uncertain significance149648311296483112Humanname
405185605CV3058580single nucleotide variantNM_152327.5(AK7):c.1522A>G (p.Arg508Gly)not provided [RCV003729234]uncertain significance149647272296472722Humanname
405202608CV3067091single nucleotide variantNM_152327.5(AK7):c.1868G>A (p.Arg623Gln)not provided [RCV003730929]uncertain significance149648311396483113Humanname
405190448CV3069839single nucleotide variantNM_152327.5(AK7):c.1988A>G (p.Glu663Gly)not provided [RCV003729671]uncertain significance149648691196486911Humanname
405191659CV3069995single nucleotide variantNM_152327.5(AK7):c.1894A>G (p.Arg632Gly)not provided [RCV003729777]|not specified [RCV004374249]uncertain significance149648313996483139Humanname
405134208CV3115558single nucleotide variantNM_152327.5(AK7):c.1655G>A (p.Arg552Gln)not provided [RCV003816215]uncertain significance149647856496478564Humanname
405104017CV3120065single nucleotide variantNM_152327.5(AK7):c.1040G>T (p.Gly347Val)not provided [RCV003812135]uncertain significance149645151296451512Humanname
405176072CV3123075single nucleotide variantNM_152327.5(AK7):c.1000G>A (p.Val334Met)not provided [RCV003819474]uncertain significance149645147296451472Humanname
405185442CV3124277single nucleotide variantNM_152327.5(AK7):c.1681C>T (p.Arg561Trp)not provided [RCV003820476]uncertain significance149647859096478590Humanname
405154264CV3135172single nucleotide variantNM_152327.5(AK7):c.1899G>C (p.Glu633Asp)not provided [RCV003840284]uncertain significance149648314496483144Humanname
405144788CV3141352single nucleotide variantNM_152327.5(AK7):c.1300G>A (p.Val434Met)not provided [RCV003839468]uncertain significance149645815596458155Humanname
405150286CV3142090single nucleotide variantNM_152327.5(AK7):c.1990G>T (p.Glu664Ter)not provided [RCV003840012]uncertain significance149648691396486913Humanname
405073285CV3145486single nucleotide variantNM_152327.5(AK7):c.1008G>C (p.Glu336Asp)not provided [RCV003851071]uncertain significance149645148096451480Humanname
405184674CV3159759single nucleotide variantNM_152327.5(AK7):c.1877C>A (p.Ala626Glu)not provided [RCV003859010]uncertain significance149648312296483122Humanname
405087500CV3167463single nucleotide variantNM_152327.5(AK7):c.2059T>C (p.Tyr687His)not provided [RCV003852045]|not specified [RCV005335952]likely benign|uncertain significance149648698296486982Humanname
405196560CV3168165single nucleotide variantNM_152327.5(AK7):c.1748A>G (p.His583Arg)not provided [RCV003860297]uncertain significance149647865796478657Humanname
402520153CV3179432single nucleotide variantNM_152327.5(AK7):c.2091T>A (p.Asn697Lys)not provided [RCV003879683]uncertain significance149648701496487014Humanname
405228844CV3180441single nucleotide variantNM_152327.5(AK7):c.1255G>A (p.Gly419Arg)not provided [RCV003864862]|not specified [RCV004621934]uncertain significance149645811096458110Humanname
404981744CV3183512single nucleotide variantNM_152327.5(AK7):c.1742C>T (p.Pro581Leu)not provided [RCV003880535]uncertain significance149647865196478651Humanname
405774224CV3273305single nucleotide variantNM_152327.5(AK7):c.1008G>T (p.Glu336Asp)not specified [RCV004396469]uncertain significance149645148096451480Humanname
405774364CV3273329single nucleotide variantNM_152327.5(AK7):c.1418G>A (p.Cys473Tyr)not specified [RCV004396493]uncertain significance149647153896471538Humanname
405774946CV3273430single nucleotide variantNM_152327.5(AK7):c.1919G>T (p.Arg640Leu)not specified [RCV004396594]uncertain significance149648316496483164Humanname
407495889CV3443070single nucleotide variantNM_152327.5(AK7):c.1900G>C (p.Ala634Pro)not specified [RCV004621562]uncertain significance149648314596483145Humanname
407495857CV3443079single nucleotide variantNM_152327.5(AK7):c.1907A>C (p.Glu636Ala)not specified [RCV004621571]uncertain significance149648315296483152Humanname
596925350CV3542029single nucleotide variantNM_152327.5(AK7):c.1153A>T (p.Lys385Ter)Spermatogenic failure 27 [RCV004795744]uncertain significance149645640196456401Human1name
597697667CV3669008single nucleotide variantNM_152327.5(AK7):c.1484A>G (p.Asn495Ser)not specified [RCV004916015]uncertain significance149647160496471604Humanname
597697765CV3669020single nucleotide variantNM_152327.5(AK7):c.1341C>A (p.Ser447Arg)not specified [RCV004916026]uncertain significance149645819696458196Humanname
597697970CV3669045single nucleotide variantNM_152327.5(AK7):c.1453A>G (p.Lys485Glu)not specified [RCV004916049]uncertain significance149647157396471573Humanname
597831092CV3743782single nucleotide variantNM_152327.5(AK7):c.1928A>G (p.Gln643Arg)not provided [RCV005062599]uncertain significance149648317396483173Humanname
597874996CV3766250single nucleotide variantNM_152327.5(AK7):c.1360C>G (p.Gln454Glu)not provided [RCV005108382]uncertain significance149647148096471480Humanname
597944578CV3793759single nucleotide variantNM_152327.5(AK7):c.1696G>C (p.Asp566His)not provided [RCV005134399]uncertain significance149647860596478605Humanname
597974407CV3802159single nucleotide variantNM_152327.5(AK7):c.1706C>A (p.Thr569Asn)not provided [RCV005143935]uncertain significance149647861596478615Humanname
597971328CV3802526single nucleotide variantNM_152327.5(AK7):c.1367A>G (p.Asp456Gly)not provided [RCV005142124]uncertain significance149647148796471487Humanname
597971824CV3802726single nucleotide variantNM_152327.5(AK7):c.1897G>A (p.Glu633Lys)not provided [RCV005142324]uncertain significance149648314296483142Humanname
597962205CV3809107single nucleotide variantNM_152327.5(AK7):c.1798C>T (p.Gln600Ter)not provided [RCV005164009]uncertain significance149648304396483043Humanname
597918615CV3811555single nucleotide variantNM_152327.5(AK7):c.1808A>T (p.Lys603Ile)not provided [RCV005155386]uncertain significance149648305396483053Humanname
597920099CV3811740single nucleotide variantNM_152327.5(AK7):c.1135G>C (p.Gly379Arg)not provided [RCV005155571]uncertain significance149645638396456383Humanname
597958250CV3814784single nucleotide variantNM_152327.5(AK7):c.1318C>T (p.Leu440Phe)not provided [RCV005162909]uncertain significance149645817396458173Humanname
597953322CV3815992single nucleotide variantNM_152327.5(AK7):c.1757T>C (p.Val586Ala)not provided [RCV005161744]uncertain significance149648300296483002Humanname
597971415CV3833022single nucleotide variantNM_152327.5(AK7):c.1759G>C (p.Gly587Arg)not provided [RCV005166919]uncertain significance149648300496483004Humanname
597957184CV3838448single nucleotide variantNM_152327.5(AK7):c.1096A>T (p.Met366Leu)not provided [RCV005191823]uncertain significance149645156896451568Humanname
597962641CV3841045single nucleotide variantNM_152327.5(AK7):c.1378A>G (p.Ile460Val)not provided [RCV005193338]uncertain significance149647149896471498Humanname
597907564CV3843026single nucleotide variantNM_152327.5(AK7):c.1486C>T (p.Gln496Ter)not provided [RCV005182334]uncertain significance149647160696471606Humanname
12896125CV390146single nucleotide variantNM_152327.5(AK7):c.1153A>G (p.Lys385Glu)not provided [RCV000948416]|not specified [RCV000454915]benign149645640196456401Humanname
12896625CV390149single nucleotide variantNM_152327.5(AK7):c.1167C>G (p.Asn389Lys)not provided [RCV002056683]|not specified [RCV000455601]benign149645641596456415Humanname
598212033CV3965595single nucleotide variantNM_152327.5(AK7):c.2002G>A (p.Glu668Lys)not specified [RCV005339020]uncertain significance149648692596486925Humanname
598212090CV3965605single nucleotide variantNM_152327.5(AK7):c.2011G>A (p.Glu671Lys)not specified [RCV005339030]uncertain significance149648693496486934Humanname
13612575CV514264single nucleotide variantNM_152327.5(AK7):c.2018T>G (p.Leu673Arg)Spermatogenic failure 27 [RCV000627039]pathogenic149648694196486941Human1name
14393244CV609315single nucleotide variantNM_152327.5(AK7):c.2018T>C (p.Leu673Pro)Spermatogenic failure 27 [RCV000755755]|not provided [RCV002067184]likely pathogenic|likely benign149648694196486941Human1name
156318488CV1897640microsatelliteNM_152327.5(AK7):c.1265AAG[2] (p.Glu424del)not provided [RCV002579093]uncertain significance149645811896458120Humanname
156095065CV2087708insertionNM_152327.5(AK7):c.639_640insA (p.Ala214fs)not provided [RCV002847865]uncertain significance149643786496437865Humanname
405137716CV3048607microsatelliteNM_152327.5(AK7):c.1497GGA[2] (p.Glu502del)not provided [RCV003725377]uncertain significance149647269596472697Humanname
402472679CV2978979deletionNM_001350888.2(AK7):c.1486+1091_1486+1105delnot provided [RCV003678188]uncertain significance149647268696472700Humanname
151824790CV1373335deletionNM_152327.5(AK7):c.2146_2148del (p.Phe716del)not provided [RCV001934491]uncertain significance149648831596488317Humanname
405144176CV3056242insertionNM_152327.5(AK7):c.262_263insTGCC (p.Pro88fs)not provided [RCV003725908]uncertain significance149639822896398229Humanname
151806422CV1430068microsatelliteNM_152327.5(AK7):c.153GGAAGA[1] (p.Glu53_Glu56del)not provided [RCV001974375]uncertain significance149639811996398130Humanname
156299640CV1933399microsatelliteNM_152327.5(AK7):c.153GGAAGA[2] (p.Glu55_Glu56del)not provided [RCV002629183]uncertain significance149639811996398124Humanname
151805044CV1429825indelNM_152327.5(AK7):c.1975-17_1975-14delinsTATTCTATTTTAGAATATTCTATTCTATTTTATTTnot provided [RCV001974258]uncertain significance149648688196486884Humanname