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833 records found for search term Usp1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598275105CV3936420single nucleotide variantNM_003368.5(USP1):c.37T>C (p.Ser13Pro)not specified [RCV005304261]uncertain significance16243990462439904Humanname
155979022CV2335261single nucleotide variantNM_003368.5(USP1):c.175C>A (p.Gln59Lys)not specified [RCV004186828]uncertain significance16244149262441492Humanname
401861187CV2758793single nucleotide variantNM_003368.5(USP1):c.226A>G (p.Asn76Asp)not specified [RCV004337847]uncertain significance16244154362441543Humanname
15183884CV719044single nucleotide variantNM_003368.5(USP1):c.1050C>T (p.Ser350=)not provided [RCV000886321]benign16244523062445230Humanname
15133993CV732539single nucleotide variantNM_003368.5(USP1):c.2016A>G (p.Gln672=)not provided [RCV000898217]benign16245063962450639Humanname
156318756CV2200382single nucleotide variantNM_003368.5(USP1):c.968C>T (p.Ser323Phe)not specified [RCV004076705]uncertain significance16244514862445148Humanname
156388113CV2221719single nucleotide variantNM_003368.5(USP1):c.985A>G (p.Arg329Gly)not specified [RCV004098479]uncertain significance16244516562445165Humanname
155927115CV2230735single nucleotide variantNM_003368.5(USP1):c.859T>C (p.Ser287Pro)not specified [RCV004097675]uncertain significance16244503962445039Humanname
156289800CV2333234single nucleotide variantNM_003368.5(USP1):c.506A>G (p.Lys169Arg)not specified [RCV004196566]uncertain significance16244326862443268Humanname
155934909CV2372570single nucleotide variantNM_003368.5(USP1):c.736A>G (p.Ile246Val)not specified [RCV004219362]uncertain significance16244491662444916Humanname
329355696CV2434349single nucleotide variantNM_003368.5(USP1):c.994C>A (p.Gln332Lys)not specified [RCV004252018]uncertain significance16244517462445174Humanname
329385073CV2454658single nucleotide variantNM_003368.5(USP1):c.785A>C (p.Glu262Ala)not specified [RCV004268116]uncertain significance16244496562444965Humanname
401737113CV2679230single nucleotide variantNM_003368.5(USP1):c.416C>T (p.Ser139Phe)not specified [RCV004285783]uncertain significance16244317862443178Humanname
401874535CV2759255single nucleotide variantNM_003368.5(USP1):c.442A>G (p.Ser148Gly)not specified [RCV004335852]uncertain significance16244320462443204Humanname
405814688CV3341592single nucleotide variantNM_003368.5(USP1):c.761T>G (p.Met254Arg)not specified [RCV004484478]uncertain significance16244494162444941Humanname
407455114CV3489584single nucleotide variantNM_003368.5(USP1):c.310G>A (p.Gly104Ser)not specified [RCV004685407]uncertain significance16244221362442213Humanname
597791415CV3626061single nucleotide variantNM_003368.5(USP1):c.885G>T (p.Glu295Asp)not specified [RCV004876653]uncertain significance16244506562445065Humanname
598275103CV3936419single nucleotide variantNM_003368.5(USP1):c.863A>T (p.Lys288Met)not specified [RCV005304260]uncertain significance16244504362445043Humanname
598275109CV3936424single nucleotide variantNM_003368.5(USP1):c.964A>G (p.Ile322Val)not specified [RCV005304263]likely benign16244514462445144Humanname
13442671CV434568deletionNM_003368.5(USP1):c.1985del (p.Asn662fs)not provided [RCV000509163]not provided16245060162450601Humanname
8629630CV84777single nucleotide variantNM_003368.5(USP1):c.716C>T (p.Pro239Leu)not specified [RCV004484477]uncertain significance|not provided16244489662444896Humanname
155915511CV2200340single nucleotide variantNM_003368.5(USP1):c.1094A>G (p.Gln365Arg)not specified [RCV004076672]uncertain significance16244527462445274Humanname
156233930CV2227803single nucleotide variantNM_003368.5(USP1):c.1095A>C (p.Gln365His)not specified [RCV004094182]uncertain significance16244527562445275Humanname
156287093CV2229588single nucleotide variantNM_003368.5(USP1):c.2209G>A (p.Val737Met)not specified [RCV004103407]uncertain significance16245083262450832Humanname
156190473CV2289269single nucleotide variantNM_003368.5(USP1):c.1183G>A (p.Gly395Arg)not specified [RCV004152254]uncertain significance16244536362445363Humanname
156187587CV2292478single nucleotide variantNM_003368.5(USP1):c.2290C>G (p.Leu764Val)not specified [RCV004150266]uncertain significance16245091362450913Humanname
156276415CV2299943single nucleotide variantNM_003368.5(USP1):c.1393C>G (p.Leu465Val)not specified [RCV004151161]uncertain significance16244748462447484Humanname
155962911CV2308209single nucleotide variantNM_003368.5(USP1):c.1186C>A (p.Leu396Ile)not specified [RCV004164710]uncertain significance16244536662445366Humanname
156290405CV2324902single nucleotide variantNM_003368.5(USP1):c.1168A>G (p.Thr390Ala)not specified [RCV004175167]uncertain significance16244534862445348Humanname
156325715CV2335349single nucleotide variantNM_003368.5(USP1):c.1130A>T (p.Asp377Val)not specified [RCV004599567]uncertain significance16244531062445310Humanname
156065622CV2340846single nucleotide variantNM_003368.5(USP1):c.1092C>G (p.Asn364Lys)not specified [RCV004188203]uncertain significance16244527262445272Humanname
156065826CV2346644single nucleotide variantNM_003368.5(USP1):c.1988T>C (p.Val663Ala)not specified [RCV004199670]uncertain significance16245061162450611Humanname
155910376CV2369897single nucleotide variantNM_003368.5(USP1):c.1936A>G (p.Ile646Val)not specified [RCV004208368]uncertain significance16245055962450559Humanname
156138079CV2374191single nucleotide variantNM_003368.5(USP1):c.1046C>T (p.Pro349Leu)not specified [RCV004229336]uncertain significance16244522662445226Humanname
156213951CV2385883single nucleotide variantNM_003368.5(USP1):c.2081C>T (p.Ala694Val)not specified [RCV004226923]uncertain significance16245070462450704Humanname
329393025CV2469180single nucleotide variantNM_003368.5(USP1):c.1015A>G (p.Ile339Val)not specified [RCV004280534]uncertain significance16244519562445195Humanname
329352656CV2470278single nucleotide variantNM_003368.5(USP1):c.2045A>G (p.Asn682Ser)not specified [RCV004279683]uncertain significance16245066862450668Humanname
401719550CV2701170single nucleotide variantNM_003368.5(USP1):c.1807C>T (p.Leu603Phe)not specified [RCV004309750]uncertain significance16245043062450430Humanname
401857507CV2759305single nucleotide variantNM_003368.5(USP1):c.2311A>C (p.Thr771Pro)not specified [RCV004335892]uncertain significance16245093462450934Humanname
401927803CV2808940single nucleotide variantNM_003368.5(USP1):c.1996A>G (p.Ile666Val)not provided [RCV003406537]likely benign16245061962450619Humanname
405814697CV3341588single nucleotide variantNM_003368.5(USP1):c.1060A>G (p.Lys354Glu)not specified [RCV004484473]uncertain significance16244524062445240Humanname
405814695CV3341589single nucleotide variantNM_003368.5(USP1):c.1190A>C (p.Glu397Ala)not specified [RCV004484474]uncertain significance16244537062445370Humanname
405814693CV3341590single nucleotide variantNM_003368.5(USP1):c.1258C>G (p.Gln420Glu)not specified [RCV004484475]uncertain significance16244734962447349Humanname
405814691CV3341591single nucleotide variantNM_003368.5(USP1):c.2059C>T (p.Pro687Ser)not specified [RCV004484476]uncertain significance16245068262450682Humanname
407455110CV3489582single nucleotide variantNM_003368.5(USP1):c.2078C>T (p.Thr693Ile)not specified [RCV004685405]uncertain significance16245070162450701Humanname
407455112CV3489583single nucleotide variantNM_003368.5(USP1):c.1223T>A (p.Val408Asp)not specified [RCV004685406]uncertain significance16244540362445403Humanname
407455116CV3489585single nucleotide variantNM_003368.5(USP1):c.2117C>G (p.Thr706Ser)not specified [RCV004685408]uncertain significance16245074062450740Humanname
407455118CV3489586single nucleotide variantNM_003368.5(USP1):c.2053T>G (p.Ser685Ala)not specified [RCV004685409]uncertain significance16245067662450676Humanname
407455120CV3489587single nucleotide variantNM_003368.5(USP1):c.1553G>A (p.Ser518Asn)not specified [RCV004685410]uncertain significance16244859762448597Humanname
407455122CV3489588single nucleotide variantNM_003368.5(USP1):c.2129A>G (p.His710Arg)not specified [RCV004685411]uncertain significance16245075262450752Humanname
407455124CV3489589single nucleotide variantNM_003368.5(USP1):c.1897A>G (p.Arg633Gly)not specified [RCV004685412]uncertain significance16245052062450520Humanname
597791418CV3626062single nucleotide variantNM_003368.5(USP1):c.1205C>G (p.Thr402Ser)not specified [RCV004876654]uncertain significance16244538562445385Humanname
597722222CV3626063single nucleotide variantNM_003368.5(USP1):c.1432C>T (p.Pro478Ser)not specified [RCV004888004]uncertain significance16244847662448476Humanname
598203417CV3936418single nucleotide variantNM_003368.5(USP1):c.1637G>A (p.Gly546Asp)not specified [RCV005290531]uncertain significance16245026062450260Humanname
598275107CV3936421single nucleotide variantNM_003368.5(USP1):c.1918A>G (p.Asn640Asp)not specified [RCV005304262]likely benign16245054162450541Humanname
598203424CV3936422single nucleotide variantNM_003368.5(USP1):c.1366A>G (p.Ile456Val)not specified [RCV005290532]uncertain significance16244745762447457Humanname
598203430CV3936423single nucleotide variantNM_003368.5(USP1):c.1084A>T (p.Thr362Ser)not specified [RCV005290533]uncertain significance16244526462445264Humanname
598203435CV3936425single nucleotide variantNM_003368.5(USP1):c.1678C>T (p.Leu560Phe)not specified [RCV005290534]uncertain significance16245030162450301Humanname
598275111CV3936426single nucleotide variantNM_003368.5(USP1):c.1973T>G (p.Leu658Trp)not specified [RCV005304264]uncertain significance16245059662450596Humanname
8629629CV84776single nucleotide variantNM_001017415.1(USP1):c.715C>T (p.Pro239Ser)Malignant melanoma [RCV000064858]not provided16244489562444895Humanname
15136953CV776588single nucleotide variantNM_005151.4(USP14):c.17-3C>Tnot provided [RCV000943159]likely benign18163305163305Humanname
15192982CV776768single nucleotide variantNM_005151.4(USP14):c.17-6T>Cnot provided [RCV000933238]likely benign18163302163302Humanname
329955049CV2670989single nucleotide variantNM_017414.4(USP18):c.891+1G>TPseudo-TORCH syndrome 2 [RCV003236258]likely pathogenic221817092118170921Human1name , alternate_id
597722328CV3626088single nucleotide variantNM_001371072.1(USP11):c.-3G>Cnot specified [RCV004888012]uncertain significanceX4723304147233041Humanname
15098932CV758511single nucleotide variantNM_001371072.1(USP11):c.-1G>Cnot provided [RCV000912321]likely benignX4723304347233043Humanname
15148599CV780222single nucleotide variantNM_017414.4(USP18):c.158-5T>Gnot provided [RCV000967579]benign221816016718160167Humanname
150474373CV1217791single nucleotide variantNM_005151.4(USP14):c.943-17A>Cnot provided [RCV001615802]benign18203081203081Humanname
401729991CV2683893single nucleotide variantNM_001371072.1(USP11):c.-20G>Anot specified [RCV004284614]uncertain significanceX4723302447233024Humanname
401907041CV2795694single nucleotide variantNM_017414.4(USP18):c.892-57G>Anot specified [RCV003397046]benign221817309318173093Humanname
597798355CV3626091single nucleotide variantNM_001371072.1(USP11):c.-33A>Cnot specified [RCV004879150]uncertain significanceX4723301147233011Humanname
15178338CV777394single nucleotide variantNM_003940.3(USP13):c.1921+5C>Tnot provided [RCV000951256]benign3179754859179754859Humanname
15163417CV778450single nucleotide variantNM_006447.3(USP16):c.2011+9A>Gnot provided [RCV000948081]benign212904733029047330Humanname
21405320CV799090single nucleotide variantNM_017414.4(USP18):c.1073+1G>APseudo-TORCH syndrome 2 [RCV001000098]pathogenic|likely pathogenic221817384318173843Human1name , alternate_id
8582730CV117286single nucleotide variantNM_182488.3(USP12):c.48+8143A>CLung cancer [RCV000097807]uncertain significance132716344927163449Humanname
401907007CV2795700single nucleotide variantNM_017414.4(USP18):c.-106-25G>Anot specified [RCV003397052]benign221815753318157533Humanname
404983301CV2849189single nucleotide variantNM_017414.4(USP18):c.401-100A>Gnot specified [RCV003489061]benign221816715518167155Humanname
8578425CV112806single nucleotide variantNM_003940.2(USP13):c.806-3824G>ALung cancer [RCV000093329]uncertain significance3179716116179716116Humanname
8578426CV112807single nucleotide variantNM_003940.2(USP13):c.1254+1159C>GLung cancer [RCV000093330]uncertain significance3179731868179731868Humanname
8578427CV112808single nucleotide variantNM_003940.2(USP13):c.1709+3499G>ALung cancer [RCV000093331]uncertain significance3179748716179748716Humanname
15153717CV730222single nucleotide variantNM_001199161.2(USP19):c.2292+7T>Cnot provided [RCV000880066]benign34911475649114756Humanname
15196070CV777426single nucleotide variantNM_001199161.2(USP19):c.3698+8G>Tnot provided [RCV000956095]benign34911070349110703Humanname
405274642CV3209046single nucleotide variantNM_001371072.1(USP11):c.1843+49C>AUSP11-related disorder [RCV003951804]likely benignX4724459947244599Humanname , trait , alternate_id
408365742CV3509392single nucleotide variantNM_001252078.2(USP15):c.1652+10A>GUSP15-related disorder [RCV004755213]likely benign126238970962389709Humanname , trait , alternate_id
156087523CV2366401single nucleotide variantNM_001199161.2(USP19):c.4039-543A>Tnot specified [RCV004212448]uncertain significance34910907149109071Humanname
329380672CV2440389single nucleotide variantNM_001199161.2(USP19):c.4039-482C>Gnot specified [RCV004263236]uncertain significance34910901049109010Humanname
329392031CV2445168single nucleotide variantNM_001199161.2(USP19):c.4039-477G>Anot specified [RCV004263807]uncertain significance34910900549109005Humanname
401761997CV2726995single nucleotide variantNM_001199161.2(USP19):c.4039-599G>Anot specified [RCV004325059]uncertain significance34910912749109127Humanname
401890428CV2778706single nucleotide variantNM_001199161.2(USP19):c.4039-591G>Anot specified [RCV004346620]uncertain significance34910911949109119Humanname
401891624CV2779260single nucleotide variantNM_001199161.2(USP19):c.4039-518G>Anot specified [RCV004350944]uncertain significance34910904649109046Humanname
597722585CV3626170single nucleotide variantNM_001199161.2(USP19):c.4039-440G>Anot specified [RCV004888038]uncertain significance34910896849108968Humanname
15201141CV748360single nucleotide variantNM_001199161.2(USP19):c.4039-607G>Anot provided [RCV000913052]likely benign34910913549109135Humanname
156057777CV2383258single nucleotide variantNM_017414.4(USP18):c.907G>A (p.Glu303Lys)Inborn genetic diseases [RCV002693230]|Pseudo-TORCH syndrome 2 [RCV003140220]uncertain significance221817316518173165Human2name , alternate_id
597720876CV3415481single nucleotide variantNM_017414.4(USP18):c.772C>T (p.Arg258Ter)Pseudo-TORCH syndrome 2 [RCV005052897]pathogenic221817080118170801Human1name , alternate_id
598121825CV3883454single nucleotide variantNM_017414.4(USP18):c.358C>T (p.Pro120Ser)Pseudo-TORCH syndrome 2 [RCV005235829]uncertain significance221816189318161893Human1name , alternate_id
12892638CV404675single nucleotide variantNM_017414.4(USP18):c.652C>T (p.Gln218Ter)Pseudo-TORCH syndrome 2 [RCV000477724]pathogenic|likely pathogenic221816986818169868Human1name , alternate_id
12892607CV404676deletionUSP18, 3-PRIME DELPseudo-TORCH syndrome 2 [RCV000477666]pathogenicHuman1name , alternate_id
42722883CV985382insertionNM_017414.4(USP18):c.840_841insCA (p.Phe281fs)Pseudo-TORCH syndrome 2 [RCV001292879]pathogenic221817086918170870Humanname , alternate_id
156284708CV2349040single nucleotide variantNM_001252078.2(USP15):c.1310T>C (p.Ile437Thr)USP15-related disorder [RCV003946392]|not specified [RCV004205481]likely benign|uncertain significance126238413962384139Humanname , trait , alternate_id
156284719CV2349041single nucleotide variantNM_001252078.2(USP15):c.2061T>G (p.Asp687Glu)USP15-related disorder [RCV003946393]|not specified [RCV004205482]likely benign|uncertain significance126239125762391257Humanname , trait , alternate_id
401926693CV2798729single nucleotide variantNM_001252078.2(USP15):c.1506A>G (p.Ile502Met)USP15-related disorder [RCV003406017]uncertain significance126238946362389463Humanname , trait , alternate_id
405284589CV3190475single nucleotide variantNM_001252078.2(USP15):c.1371A>G (p.Thr457=)USP15-related disorder [RCV003909284]likely benign126238420062384200Humanname , trait , alternate_id
405258105CV3208130single nucleotide variantNM_001252078.2(USP15):c.801A>G (p.Ser267=)USP15-related disorder [RCV003941577]likely benign126235536162355361Humanname , trait , alternate_id
405274393CV3211732single nucleotide variantNM_001252078.2(USP15):c.1602C>T (p.Phe534=)USP15-related disorder [RCV003951532]likely benign126238964962389649Humanname , trait , alternate_id
405262166CV3216704single nucleotide variantNM_001252078.2(USP15):c.1572T>C (p.Asp524=)USP15-related disorder [RCV003944683]likely benign126238961962389619Humanname , trait , alternate_id
405277252CV3217709single nucleotide variantNM_001252078.2(USP15):c.2301T>C (p.Ala767=)USP15-related disorder [RCV003974774]benign126239188362391883Humanname , trait , alternate_id
405287801CV3217967single nucleotide variantNM_001252078.2(USP15):c.246C>T (p.His82=)USP15-related disorder [RCV003982090]benign126230281862302818Humanname , trait , alternate_id
405287822CV3217978single nucleotide variantNM_001252078.2(USP15):c.1455A>G (p.Pro485=)USP15-related disorder [RCV003982102]benign126238428462384284Humanname , trait , alternate_id
15106441CV773422single nucleotide variantNM_017414.4(USP18):c.97G>A (p.Asp33Asn)USP18-related disorder [RCV003925825]|not provided [RCV000937779]likely benign221815776018157760Human1name , trait , alternate_id
156104822CV2311077single nucleotide variantNM_005153.3(USP10):c.7C>T (p.Leu3Phe)not specified [RCV004164078]uncertain significance168470009784700097Humanname
155929445CV2363528single nucleotide variantNM_017414.4(USP18):c.5G>A (p.Ser2Asn)Inborn genetic diseases [RCV002683956]uncertain significance221815766818157668Human1name
597722356CV3626094single nucleotide variantNM_182488.4(USP12):c.63G>A (p.Ser21=)not specified [RCV004888014]likely benign132711658227116582Humanname
156194716CV2297142single nucleotide variantNM_003940.3(USP13):c.11G>A (p.Arg4Gln)not specified [RCV004151040]uncertain significance3179653236179653236Humanname
155984463CV2344422single nucleotide variantNM_003940.3(USP13):c.16G>T (p.Ala6Ser)not specified [RCV004195168]uncertain significance3179653241179653241Humanname
401925679CV2820915single nucleotide variantNM_201402.3(USP17L2):c.18C>G (p.Leu6=)not provided [RCV003436757]likely benign81213874312138743Humanname
405814622CV3341597single nucleotide variantNM_005153.3(USP10):c.16C>T (p.Pro6Ser)not specified [RCV004484483]uncertain significance168470010684700106Humanname
597798406CV3626126single nucleotide variantNM_006447.3(USP16):c.23G>A (p.Gly8Glu)not specified [RCV004879168]uncertain significance212902793629027936Humanname
15097646CV727656single nucleotide variantNM_005151.4(USP14):c.105G>A (p.Ala35=)not provided [RCV000891550]benign18163396163396Humanname
15129216CV742734single nucleotide variantNM_017414.4(USP18):c.219C>T (p.Phe73=)not provided [RCV000897403]likely benign221816023318160233Humanname
156030758CV2202527single nucleotide variantNM_017414.4(USP18):c.80A>G (p.Glu27Gly)Inborn genetic diseases [RCV002691561]uncertain significance221815774318157743Human1name
156330717CV2210687single nucleotide variantNM_003940.3(USP13):c.80T>G (p.Leu27Arg)not specified [RCV004083828]uncertain significance3179653305179653305Humanname
155975334CV2270064single nucleotide variantNM_003940.3(USP13):c.41G>A (p.Ser14Asn)not specified [RCV004129038]uncertain significance3179653266179653266Humanname
155908401CV2302422single nucleotide variantNM_005153.3(USP10):c.63C>A (p.Phe21Leu)not specified [RCV004161164]uncertain significance168473347684733476Humanname
156347137CV2353895single nucleotide variantNM_005153.3(USP10):c.71C>T (p.Thr24Ile)not specified [RCV004201893]uncertain significance168473348484733484Humanname
401732076CV2690284single nucleotide variantNM_006447.3(USP16):c.70T>A (p.Cys24Ser)not specified [RCV004302281]uncertain significance212903060329030603Humanname
401730731CV2711469single nucleotide variantNM_005153.3(USP10):c.56A>G (p.Asn19Ser)not specified [RCV004306791]uncertain significance168473346984733469Humanname
401762582CV2719985single nucleotide variantNM_017414.4(USP18):c.534C>T (p.Cys178=)Inborn genetic diseases [RCV003300255]likely benign221816794318167943Human1name
401865655CV2778861single nucleotide variantNM_005151.4(USP14):c.50G>A (p.Gly17Asp)not specified [RCV004346750]uncertain significance18163341163341Humanname
401926882CV2821607single nucleotide variantNM_001371072.1(USP11):c.12C>T (p.Val4=)not provided [RCV003438191]likely benignX4723305547233055Humanname
405814619CV3341618single nucleotide variantNM_182488.4(USP12):c.74A>G (p.Lys25Arg)not specified [RCV004484504]uncertain significance132711657127116571Humanname
405814640CV3341630single nucleotide variantNM_003940.3(USP13):c.61G>A (p.Ala21Thr)not specified [RCV004484516]uncertain significance3179653286179653286Humanname
405814655CV3341639single nucleotide variantNM_005151.4(USP14):c.79A>G (p.Met27Val)not specified [RCV004484525]uncertain significance18163370163370Humanname
407455226CV3487430single nucleotide variantNM_006447.3(USP16):c.49T>G (p.Ser17Ala)not specified [RCV004685442]uncertain significance212902796229027962Humanname
597798358CV3626093single nucleotide variantNM_182488.4(USP12):c.52G>A (p.Ala18Thr)not specified [RCV004879151]uncertain significance132711659327116593Humanname
597798377CV3626108single nucleotide variantNM_003940.3(USP13):c.43G>C (p.Gly15Arg)not specified [RCV004879158]uncertain significance3179653268179653268Humanname
597642864CV3626165single nucleotide variantNM_017414.4(USP18):c.35G>A (p.Cys12Tyr)Inborn genetic diseases [RCV004971983]uncertain significance221815769818157698Human1name
598203482CV3936440single nucleotide variantNM_182488.4(USP12):c.31G>T (p.Ala11Ser)not specified [RCV005290541]uncertain significance132717160927171609Humanname
598275132CV3936452single nucleotide variantNM_005151.4(USP14):c.29G>T (p.Trp10Leu)not specified [RCV005304275]uncertain significance18163320163320Humanname
598275144CV3936462single nucleotide variantNM_006447.3(USP16):c.40G>T (p.Asp14Tyr)not specified [RCV005304281]uncertain significance212902795329027953Humanname
598275162CV3936485single nucleotide variantNM_017414.4(USP18):c.43A>T (p.Ile15Phe)Inborn genetic diseases [RCV005304296]uncertain significance221815770618157706Human1name
15178838CV717291single nucleotide variantNM_017414.4(USP18):c.73G>A (p.Asp25Asn)not provided [RCV000973762]benign221815773618157736Humanname
15153832CV720309single nucleotide variantNM_003940.3(USP13):c.642C>T (p.Cys214=)not provided [RCV000880090]benign3179708794179708794Humanname
15112464CV728851single nucleotide variantNM_006447.3(USP16):c.753T>G (p.Leu251=)not provided [RCV000894474]benign212903904629039046Humanname
15157148CV757921single nucleotide variantNM_017414.4(USP18):c.948C>T (p.Ser316=)not provided [RCV000924803]likely benign221817320618173206Humanname
15119143CV773423single nucleotide variantNM_017414.4(USP18):c.633C>T (p.Asp211=)not provided [RCV000940134]benign221816984918169849Humanname
15181319CV773424single nucleotide variantNM_017414.4(USP18):c.798G>A (p.Thr266=)not provided [RCV000930097]likely benign221817082718170827Humanname
15106684CV786547single nucleotide variantNM_017414.4(USP18):c.894T>C (p.Ser298=)not provided [RCV000976677]likely benign221817315218173152Humanname
156152537CV2209371single nucleotide variantNM_017414.4(USP18):c.113G>A (p.Arg38Lys)Inborn genetic diseases [RCV002697735]uncertain significance221815777618157776Human1name
156232647CV2245182single nucleotide variantNM_005153.3(USP10):c.200C>A (p.Pro67His)not specified [RCV004106963]uncertain significance168474468184744681Humanname
156267332CV2296621single nucleotide variantNM_005151.4(USP14):c.227A>T (p.Asp76Val)not specified [RCV004154679]uncertain significance18178964178964Humanname
156038956CV2313693single nucleotide variantNM_005151.4(USP14):c.136G>A (p.Val46Ile)not specified [RCV004157611]uncertain significance18163427163427Humanname
156353172CV2324115single nucleotide variantNM_006447.3(USP16):c.169G>A (p.Val57Met)not specified [RCV004178402]uncertain significance212903070229030702Humanname
156175565CV2327032single nucleotide variantNM_005153.3(USP10):c.176T>A (p.Phe59Tyr)not specified [RCV004178621]uncertain significance168474465784744657Humanname
155919050CV2333121single nucleotide variantNM_005153.3(USP10):c.245C>T (p.Thr82Ile)not specified [RCV004194414]uncertain significance168474472684744726Humanname
329392216CV2441319single nucleotide variantNM_003940.3(USP13):c.160G>A (p.Asp54Asn)not specified [RCV004257133]uncertain significance3179653385179653385Humanname
329397123CV2456618single nucleotide variantNM_003940.3(USP13):c.179G>A (p.Gly60Asp)not specified [RCV004277807]uncertain significance3179681888179681888Humanname
401866797CV2759009single nucleotide variantNM_005151.4(USP14):c.281A>G (p.Glu94Gly)not specified [RCV004342318]uncertain significance18179018179018Humanname
401925677CV2820913single nucleotide variantNM_201402.3(USP17L2):c.291C>T (p.Cys97=)not provided [RCV003436755]likely benign81213847012138470Humanname
404991303CV2852609single nucleotide variantNM_017414.4(USP18):c.220G>A (p.Val74Ile)not specified [RCV003490794]uncertain significance221816023418160234Humanname
405814587CV3341601single nucleotide variantNM_005153.3(USP10):c.218G>C (p.Arg73Thr)not specified [RCV004484487]uncertain significance168474469984744699Humanname
405814617CV3341617single nucleotide variantNM_182488.4(USP12):c.245C>A (p.Thr82Lys)not specified [RCV004484503]uncertain significance132710582927105829Humanname
405814673CV3341649single nucleotide variantNM_006447.3(USP16):c.193A>G (p.Thr65Ala)not specified [RCV004484535]uncertain significance212903072629030726Humanname
407462592CV3487402single nucleotide variantNM_005153.3(USP10):c.165G>C (p.Gln55His)not specified [RCV004688013]uncertain significance168474464684744646Humanname
407455143CV3487408single nucleotide variantNM_003940.3(USP13):c.161A>C (p.Asp54Ala)not specified [RCV004685422]uncertain significance3179653386179653386Humanname
407455145CV3487439single nucleotide variantNM_017414.4(USP18):c.166G>T (p.Gly56Cys)Inborn genetic diseases [RCV004685451]uncertain significance221816018018160180Human1name
597791427CV3626068single nucleotide variantNM_005153.3(USP10):c.293A>G (p.Lys98Arg)not specified [RCV004876657]uncertain significance168474477484744774Humanname
597722288CV3626080single nucleotide variantNM_005153.3(USP10):c.206A>T (p.Asp69Val)not specified [RCV004888009]uncertain significance168474468784744687Humanname
597798367CV3626099single nucleotide variantNM_003940.3(USP13):c.1089G>A (p.Ala363=)not specified [RCV004879154]likely benign3179730189179730189Humanname
597722412CV3626103single nucleotide variantNM_003940.3(USP13):c.2001G>A (p.Pro667=)not specified [RCV004888018]likely benign3179761164179761164Humanname
597722480CV3626120single nucleotide variantNM_006447.3(USP16):c.241G>A (p.Gly81Ser)not specified [RCV004888024]uncertain significance212903483729034837Humanname
597798414CV3626134single nucleotide variantNM_006447.3(USP16):c.296G>C (p.Arg99Thr)not specified [RCV004879171]uncertain significance212903489229034892Humanname
597642534CV3626159single nucleotide variantNM_017414.4(USP18):c.239C>T (p.Thr80Ile)Inborn genetic diseases [RCV004971977]uncertain significance221816025318160253Human1name
598275136CV3936454single nucleotide variantNM_005151.4(USP14):c.226G>C (p.Asp76His)not specified [RCV005304277]uncertain significance18178963178963Humanname
598275161CV3936484single nucleotide variantNM_017414.4(USP18):c.244A>G (p.Ile82Val)Inborn genetic diseases [RCV005304295]uncertain significance221816025818160258Human1name
598203617CV3936489single nucleotide variantNM_017414.4(USP18):c.268A>G (p.Arg90Gly)Inborn genetic diseases [RCV005290563]uncertain significance221816180318161803Human1name
15097960CV704547single nucleotide variantNM_005151.4(USP14):c.1395G>T (p.Arg465=)not provided [RCV000958438]benign18211194211194Humanname
15167921CV708691single nucleotide variantNM_003940.3(USP13):c.1476G>A (p.Thr492=)not provided [RCV000971501]benign3179742292179742292Humanname
15168653CV715894single nucleotide variantNM_005151.4(USP14):c.1074G>C (p.Leu358=)not provided [RCV000971659]benign18204602204602Humanname
15123076CV715895single nucleotide variantNM_005151.4(USP14):c.1428C>T (p.Tyr476=)not provided [RCV000963178]likely benign18211227211227Humanname
15122510CV741305single nucleotide variantNM_005151.4(USP14):c.1293T>C (p.Ser431=)not provided [RCV000896251]benign18210453210453Humanname
15126117CV756384single nucleotide variantNM_005151.4(USP14):c.1057T>C (p.Leu353=)not provided [RCV000919269]likely benign18204585204585Humanname
15199484CV756385single nucleotide variantNM_005151.4(USP14):c.1314A>G (p.Ser438=)not provided [RCV000912560]likely benign18210474210474Humanname
15104884CV756386single nucleotide variantNM_005151.4(USP14):c.1386T>C (p.Asp462=)not provided [RCV000915437]likely benign18211185211185Humanname
15120422CV757922single nucleotide variantNM_017414.4(USP18):c.1017T>A (p.Ile339=)not provided [RCV000918319]likely benign221817327518173275Humanname
8626517CV81661single nucleotide variantNM_201402.2(USP17L2):c.283C>T (p.Leu95=)Malignant melanoma [RCV000061739]not provided81213847812138478Humanname
8632815CV88030single nucleotide variantNM_201402.2(USP17L2):c.195G>A (p.Arg65=)Malignant melanoma [RCV000068122]not provided81213856612138566Humanname
8637872CV93098single nucleotide variantNM_004651.3(USP11):c.2019G>A (p.Gly673=)Malignant melanoma [RCV000073196]not providedX4724472847244728Humanname
156066407CV2193339single nucleotide variantNM_005153.3(USP10):c.473G>A (p.Gly158Glu)not specified [RCV004072844]uncertain significance168474495484744954Humanname
156320636CV2197360single nucleotide variantNM_005153.3(USP10):c.998C>G (p.Thr333Ser)not specified [RCV004081102]uncertain significance168474547984745479Humanname
155919115CV2202391single nucleotide variantNM_005153.3(USP10):c.505G>C (p.Asp169His)not specified [RCV004080706]uncertain significance168474498684744986Humanname
156381348CV2214896single nucleotide variantNM_003940.3(USP13):c.904G>A (p.Glu302Lys)not specified [RCV004084689]uncertain significance3179721405179721405Humanname
156038400CV2214944single nucleotide variantNM_006447.3(USP16):c.557C>T (p.Pro186Leu)not specified [RCV004084727]uncertain significance212903738429037384Humanname
156057374CV2239086single nucleotide variantNM_006447.3(USP16):c.503G>A (p.Ser168Asn)not specified [RCV004112090]uncertain significance212903733029037330Humanname
155984309CV2241106single nucleotide variantNM_182488.4(USP12):c.313A>G (p.Lys105Glu)not specified [RCV004104141]uncertain significance132710576127105761Humanname
156302497CV2241772single nucleotide variantNM_006447.3(USP16):c.538A>G (p.Met180Val)not specified [RCV004106708]uncertain significance212903736529037365Humanname
156154743CV2242361single nucleotide variantNM_017414.4(USP18):c.511C>T (p.Arg171Trp)Inborn genetic diseases [RCV002787117]uncertain significance221816792018167920Human1name
155980229CV2243931single nucleotide variantNM_005153.3(USP10):c.307G>T (p.Gly103Cys)not specified [RCV004108437]uncertain significance168474478884744788Humanname
155993046CV2253532single nucleotide variantNM_017414.4(USP18):c.712C>A (p.Arg238Ser)Inborn genetic diseases [RCV002793847]uncertain significance221816992818169928Human1name
155915183CV2264956single nucleotide variantNM_017414.4(USP18):c.947C>G (p.Ser316Cys)Inborn genetic diseases [RCV002858847]uncertain significance221817320518173205Human1name
156363536CV2265757single nucleotide variantNM_005151.4(USP14):c.851A>T (p.Lys284Met)not specified [RCV004124465]uncertain significance18199291199291Humanname
156234777CV2271252single nucleotide variantNM_017414.4(USP18):c.355C>T (p.Arg119Trp)Inborn genetic diseases [RCV002853869]uncertain significance221816189018161890Human1name
156279488CV2297683single nucleotide variantNM_006447.3(USP16):c.601T>A (p.Leu201Met)not specified [RCV004155366]uncertain significance212903742829037428Humanname
156165449CV2315170single nucleotide variantNM_005153.3(USP10):c.677G>T (p.Ser226Ile)not specified [RCV004165345]uncertain significance168474515884745158Humanname
156063177CV2316735single nucleotide variantNM_006447.3(USP16):c.760C>G (p.Pro254Ala)not specified [RCV004171958]uncertain significance212903905329039053Humanname
156357405CV2318290single nucleotide variantNM_003940.3(USP13):c.812A>T (p.Tyr271Phe)not specified [RCV004179462]uncertain significance3179719946179719946Humanname
156279028CV2325177single nucleotide variantNM_005153.3(USP10):c.314C>G (p.Thr105Ser)not specified [RCV004177594]uncertain significance168474479584744795Humanname
156253635CV2325548single nucleotide variantNM_003940.3(USP13):c.971G>A (p.Gly324Asp)not specified [RCV004179981]uncertain significance3179721472179721472Humanname
156284832CV2334796single nucleotide variantNM_006447.3(USP16):c.914G>A (p.Arg305His)not specified [RCV004181911]uncertain significance212903953129039531Humanname
156181727CV2338148single nucleotide variantNM_005153.3(USP10):c.320A>G (p.Glu107Gly)not specified [RCV004184179]uncertain significance168474480184744801Humanname
156035576CV2338931single nucleotide variantNM_005153.3(USP10):c.446G>A (p.Arg149His)not specified [RCV004184521]uncertain significance168474492784744927Humanname
156131243CV2358230single nucleotide variantNM_006447.3(USP16):c.983G>C (p.Gly328Ala)not specified [RCV004212022]uncertain significance212904064029040640Humanname
156212246CV2378391single nucleotide variantNM_005153.3(USP10):c.565G>C (p.Val189Leu)not specified [RCV004226410]uncertain significance168474504684745046Humanname
155906661CV2379090single nucleotide variantNM_005153.3(USP10):c.932A>C (p.Asp311Ala)not specified [RCV004233844]uncertain significance168474541384745413Humanname
156183767CV2382272single nucleotide variantNM_005153.3(USP10):c.701G>A (p.Ser234Asn)not specified [RCV004228212]uncertain significance168474518284745182Humanname
155952693CV2393814single nucleotide variantNM_001371072.1(USP11):c.17C>T (p.Ala6Val)not specified [RCV004233644]uncertain significanceX4723306047233060Humanname
156153271CV2394951single nucleotide variantNM_003940.3(USP13):c.544T>C (p.Trp182Arg)not specified [RCV004234599]uncertain significance3179707000179707000Humanname
156004082CV2400948single nucleotide variantNM_001371072.1(USP11):c.23C>T (p.Pro8Leu)not specified [RCV004244236]uncertain significanceX4723306647233066Humanname
329367211CV2427275single nucleotide variantNM_005153.3(USP10):c.388G>A (p.Val130Met)not specified [RCV004248140]uncertain significance168474486984744869Humanname
329385893CV2428133single nucleotide variantNM_006447.3(USP16):c.719A>T (p.Asp240Val)not specified [RCV004251175]uncertain significance212903841729038417Humanname
329378236CV2446905single nucleotide variantNM_005153.3(USP10):c.367G>A (p.Ala123Thr)not specified [RCV004257751]uncertain significance168474484884744848Humanname
329386762CV2452497single nucleotide variantNM_003940.3(USP13):c.741G>T (p.Glu247Asp)not specified [RCV004273097]uncertain significance3179708893179708893Humanname
329390916CV2455596single nucleotide variantNM_003940.3(USP13):c.376T>G (p.Leu126Val)not specified [RCV004276846]uncertain significance3179701028179701028Humanname
329375987CV2467406single nucleotide variantNM_005151.4(USP14):c.835A>G (p.Ile279Val)not specified [RCV004287024]uncertain significance18199275199275Humanname
329352687CV2470321single nucleotide variantNM_003940.3(USP13):c.628A>G (p.Lys210Glu)not specified [RCV004279715]uncertain significance3179708780179708780Humanname
401745240CV2681225single nucleotide variantNM_005153.3(USP10):c.332G>T (p.Gly111Val)not specified [RCV004289363]uncertain significance168474481384744813Humanname
401762705CV2714243single nucleotide variantNM_005153.3(USP10):c.907G>C (p.Glu303Gln)not specified [RCV004317467]uncertain significance168474538884745388Humanname
401889350CV2759785single nucleotide variantNM_182488.4(USP12):c.506C>G (p.Pro169Arg)not specified [RCV004342825]uncertain significance132709566827095668Humanname
401876547CV2767629single nucleotide variantNM_006447.3(USP16):c.796A>T (p.Asn266Tyr)not specified [RCV004343772]uncertain significance212903908929039089Humanname
401891439CV2769198single nucleotide variantNM_182488.4(USP12):c.530A>G (p.Gln177Arg)not specified [RCV004349036]uncertain significance132709564427095644Humanname
401893956CV2770155single nucleotide variantNM_003940.3(USP13):c.959T>C (p.Ile320Thr)not specified [RCV004356053]uncertain significance3179721460179721460Humanname
401886353CV2771189single nucleotide variantNM_017414.4(USP18):c.672C>G (p.Ser224Arg)Inborn genetic diseases [RCV003351953]uncertain significance221816988818169888Human1name
401882882CV2775145single nucleotide variantNM_005153.3(USP10):c.964C>A (p.Pro322Thr)not specified [RCV004346502]uncertain significance168474544584745445Humanname
401879195CV2778239single nucleotide variantNM_005153.3(USP10):c.820G>A (p.Val274Ile)not specified [RCV004349955]uncertain significance168474530184745301Humanname
401896339CV2781079single nucleotide variantNM_005153.3(USP10):c.614C>A (p.Thr205Lys)not specified [RCV004358457]uncertain significance168474509584745095Humanname
401877124CV2793356single nucleotide variantNM_005151.4(USP14):c.736T>A (p.Phe246Ile)not specified [RCV004362166]uncertain significance18198107198107Humanname
401907068CV2795723single nucleotide variantNM_017414.4(USP18):c.506C>T (p.Thr169Met)not specified [RCV003397075]benign221816791518167915Humanname
405814592CV3341604single nucleotide variantNM_005153.3(USP10):c.323C>T (p.Ala108Val)not specified [RCV004484490]likely benign168474480484744804Humanname
405814594CV3341605single nucleotide variantNM_005153.3(USP10):c.658A>G (p.Ser220Gly)not specified [RCV004484491]uncertain significance168474513984745139Humanname
405814596CV3341606single nucleotide variantNM_005153.3(USP10):c.742G>A (p.Ala248Thr)not specified [RCV004484492]likely benign168474522384745223Humanname
405814598CV3341607single nucleotide variantNM_005153.3(USP10):c.899A>G (p.Asn300Ser)not specified [RCV004484493]uncertain significance168474538084745380Humanname
405814602CV3341609single nucleotide variantNM_005153.3(USP10):c.943A>G (p.Thr315Ala)not specified [RCV004484495]likely benign168474542484745424Humanname
405814620CV3341619single nucleotide variantNM_182488.4(USP12):c.841C>T (p.Pro281Ser)not specified [RCV004484505]uncertain significance132707528227075282Humanname
405814642CV3341631single nucleotide variantNM_003940.3(USP13):c.716C>T (p.Ser239Phe)not specified [RCV004484517]uncertain significance3179708868179708868Humanname
405814643CV3341632single nucleotide variantNM_003940.3(USP13):c.721G>T (p.Gly241Cys)not specified [RCV004484518]uncertain significance3179708873179708873Humanname
405814645CV3341633single nucleotide variantNM_003940.3(USP13):c.884T>C (p.Met295Thr)not specified [RCV004484519]uncertain significance3179720018179720018Humanname
405814652CV3341637single nucleotide variantNM_005151.4(USP14):c.677C>G (p.Thr226Arg)not specified [RCV004484523]uncertain significance18198048198048Humanname
405814654CV3341638single nucleotide variantNM_005151.4(USP14):c.704C>A (p.Thr235Lys)not specified [RCV004484524]uncertain significance18198075198075Humanname
405814675CV3341650single nucleotide variantNM_006447.3(USP16):c.442A>C (p.Lys148Gln)not specified [RCV004484536]uncertain significance212903636829036368Humanname
405814677CV3341651single nucleotide variantNM_006447.3(USP16):c.659T>C (p.Leu220Pro)not specified [RCV004484537]uncertain significance212903835729038357Humanname
405814679CV3341652single nucleotide variantNM_006447.3(USP16):c.713C>T (p.Pro238Leu)not specified [RCV004484538]uncertain significance212903841129038411Humanname
405814724CV3341653single nucleotide variantNM_006447.3(USP16):c.890A>G (p.Gln297Arg)not specified [RCV004484539]uncertain significance212903950729039507Humanname
405814786CV3341686single nucleotide variantNM_017414.4(USP18):c.535G>A (p.Val179Ile)Inborn genetic diseases [RCV004484572]uncertain significance221816794418167944Human1name
405814788CV3341687single nucleotide variantNM_017414.4(USP18):c.553A>T (p.Ser185Cys)Inborn genetic diseases [RCV004484573]uncertain significance221816796218167962Human1name
405814790CV3341688single nucleotide variantNM_017414.4(USP18):c.554G>A (p.Ser185Asn)Inborn genetic diseases [RCV004484574]uncertain significance221816796318167963Human1name
405814792CV3341689single nucleotide variantNM_017414.4(USP18):c.820T>A (p.Tyr274Asn)Inborn genetic diseases [RCV004484575]uncertain significance221817084918170849Human1name
405814793CV3341690single nucleotide variantNM_017414.4(USP18):c.971G>A (p.Arg324Gln)Inborn genetic diseases [RCV004484576]uncertain significance221817322918173229Human1name
407455131CV3487399single nucleotide variantNM_005153.3(USP10):c.959C>T (p.Ala320Val)not specified [RCV004685416]uncertain significance168474544084745440Humanname
407455135CV3487401single nucleotide variantNM_005153.3(USP10):c.521A>C (p.Glu174Ala)not specified [RCV004685418]uncertain significance168474500284745002Humanname
407462603CV3487419single nucleotide variantNM_005151.4(USP14):c.521T>C (p.Ile174Thr)not specified [RCV004688017]uncertain significance18196694196694Humanname
407455244CV3487421single nucleotide variantNM_005151.4(USP14):c.791A>T (p.Glu264Val)not specified [RCV004685433]uncertain significance18199231199231Humanname
407455223CV3487436single nucleotide variantNM_017414.4(USP18):c.535G>C (p.Val179Leu)Inborn genetic diseases [RCV004685448]likely benign221816794418167944Human1name
407455221CV3487437single nucleotide variantNM_017414.4(USP18):c.970C>T (p.Arg324Trp)Inborn genetic diseases [RCV004685449]uncertain significance221817322818173228Human1name
407455153CV3487438single nucleotide variantNM_017414.4(USP18):c.473T>C (p.Val158Ala)Inborn genetic diseases [RCV004685450]uncertain significance221816732718167327Human1name
407455147CV3487440single nucleotide variantNM_017414.4(USP18):c.740A>G (p.His247Arg)Inborn genetic diseases [RCV004685452]uncertain significance221817076918170769Human1name
597722234CV3626066single nucleotide variantNM_005153.3(USP10):c.730G>T (p.Gly244Trp)not specified [RCV004888005]uncertain significance168474521184745211Humanname
597722248CV3626069single nucleotide variantNM_005153.3(USP10):c.734G>T (p.Gly245Val)not specified [RCV004888006]uncertain significance168474521584745215Humanname
597791430CV3626070single nucleotide variantNM_005153.3(USP10):c.517A>G (p.Thr173Ala)not specified [RCV004876658]uncertain significance168474499884744998Humanname
597791436CV3626073single nucleotide variantNM_005153.3(USP10):c.920C>T (p.Thr307Met)not specified [RCV004876660]uncertain significance168474540184745401Humanname
597722273CV3626078single nucleotide variantNM_005153.3(USP10):c.394G>T (p.Ala132Ser)not specified [RCV004888008]uncertain significance168474487584744875Humanname
597791445CV3626079single nucleotide variantNM_005153.3(USP10):c.364C>T (p.Leu122Phe)not specified [RCV004876663]uncertain significance168474484584744845Humanname
597798360CV3626095single nucleotide variantNM_182488.4(USP12):c.871G>C (p.Gly291Arg)not specified [RCV004879152]uncertain significance132707525227075252Humanname
597798364CV3626096single nucleotide variantNM_182488.4(USP12):c.755C>G (p.Pro252Arg)not specified [RCV004879153]uncertain significance132707536827075368Humanname
597722372CV3626097single nucleotide variantNM_003940.3(USP13):c.484A>G (p.Ile162Val)not specified [RCV004888015]uncertain significance3179706940179706940Humanname
597798370CV3626100single nucleotide variantNM_003940.3(USP13):c.581A>G (p.Asn194Ser)not specified [RCV004879155]uncertain significance3179707037179707037Humanname
597722422CV3626105single nucleotide variantNM_003940.3(USP13):c.988A>G (p.Met330Val)not specified [RCV004888019]uncertain significance3179721489179721489Humanname
597798380CV3626109single nucleotide variantNM_005151.4(USP14):c.464C>G (p.Ala155Gly)not specified [RCV004879159]uncertain significance18196637196637Humanname
597798398CV3626123single nucleotide variantNM_006447.3(USP16):c.436A>G (p.Thr146Ala)not specified [RCV004879165]uncertain significance212903636229036362Humanname
597798404CV3626125single nucleotide variantNM_006447.3(USP16):c.833C>T (p.Pro278Leu)not specified [RCV004879167]uncertain significance212903912629039126Humanname
597798409CV3626127single nucleotide variantNM_006447.3(USP16):c.884A>G (p.Tyr295Cys)not specified [RCV004879169]uncertain significance212903950129039501Humanname
597642529CV3626158single nucleotide variantNM_017414.4(USP18):c.931G>A (p.Val311Met)Inborn genetic diseases [RCV004971976]uncertain significance221817318918173189Human1name
597642886CV3626160single nucleotide variantNM_017414.4(USP18):c.713G>T (p.Arg238Leu)Inborn genetic diseases [RCV004971978]uncertain significance221816992918169929Human1name
597642880CV3626161single nucleotide variantNM_017414.4(USP18):c.848A>G (p.Gln283Arg)Inborn genetic diseases [RCV004971979]uncertain significance221817087718170877Human1name
597642875CV3626162single nucleotide variantNM_017414.4(USP18):c.953A>G (p.His318Arg)Inborn genetic diseases [RCV004971980]uncertain significance221817321118173211Human1name
597642871CV3626163single nucleotide variantNM_017414.4(USP18):c.829C>A (p.Gln277Lys)Inborn genetic diseases [RCV004971981]uncertain significance221817085818170858Human1name
597642868CV3626164single nucleotide variantNM_017414.4(USP18):c.785G>A (p.Arg262Lys)Inborn genetic diseases [RCV004971982]uncertain significance221817081418170814Human1name
598123057CV3890181single nucleotide variantNM_017414.4(USP18):c.930C>G (p.His310Gln)not provided [RCV005250700]uncertain significance221817318818173188Humanname
598203442CV3936430single nucleotide variantNM_005153.3(USP10):c.509G>A (p.Ser170Asn)not specified [RCV005290535]uncertain significance168474499084744990Humanname
598203448CV3936431single nucleotide variantNM_005153.3(USP10):c.901G>T (p.Gly301Trp)not specified [RCV005290536]uncertain significance168474538284745382Humanname
598275119CV3936432single nucleotide variantNM_005153.3(USP10):c.416G>T (p.Gly139Val)not specified [RCV005304268]uncertain significance168474489784744897Humanname
598203494CV3936443single nucleotide variantNM_003940.3(USP13):c.650G>A (p.Arg217Gln)not specified [RCV005290543]uncertain significance3179708802179708802Humanname
598203500CV3936444single nucleotide variantNM_003940.3(USP13):c.787A>G (p.Ile263Val)not specified [RCV005290544]uncertain significance3179708939179708939Humanname
598203526CV3936450single nucleotide variantNM_003940.3(USP13):c.719G>A (p.Gly240Glu)not specified [RCV005290548]uncertain significance3179708871179708871Humanname
598275134CV3936453single nucleotide variantNM_005151.4(USP14):c.902A>T (p.Gln301Leu)not specified [RCV005304276]uncertain significance18202905202905Humanname
598275140CV3936456single nucleotide variantNM_005151.4(USP14):c.452A>G (p.Tyr151Cys)not specified [RCV005304279]uncertain significance18192889192889Humanname
598203538CV3936457single nucleotide variantNM_005151.4(USP14):c.989G>A (p.Arg330Gln)not specified [RCV005290550]uncertain significance18203144203144Humanname
598275148CV3936464single nucleotide variantNM_006447.3(USP16):c.964G>C (p.Gly322Arg)not specified [RCV005304283]uncertain significance212904062129040621Humanname
598275153CV3936470single nucleotide variantNM_006447.3(USP16):c.439C>T (p.Pro147Ser)not specified [RCV005304287]uncertain significance212903636529036365Humanname
598275163CV3936486single nucleotide variantNM_017414.4(USP18):c.556A>G (p.Ser186Gly)Inborn genetic diseases [RCV005304297]uncertain significance221816796518167965Human1name
598275164CV3936487single nucleotide variantNM_017414.4(USP18):c.634G>T (p.Ala212Ser)Inborn genetic diseases [RCV005304298]uncertain significance221816985018169850Human1name
598203612CV3936488single nucleotide variantNM_017414.4(USP18):c.799A>G (p.Arg267Gly)Inborn genetic diseases [RCV005290562]uncertain significance221817082818170828Human1name
598203623CV3936490single nucleotide variantNM_017414.4(USP18):c.548T>G (p.Met183Arg)Inborn genetic diseases [RCV005290564]uncertain significance221816795718167957Human1name
15158567CV700384single nucleotide variantNM_201402.3(USP17L2):c.786G>A (p.Pro262=)not provided [RCV000947097]likely benign81213797512137975Humanname
15114728CV717292single nucleotide variantNM_017414.4(USP18):c.967A>G (p.Ile323Val)not provided [RCV000961727]benign221817322518173225Humanname
15123293CV717293single nucleotide variantNM_017414.4(USP18):c.974A>G (p.Asn325Ser)not provided [RCV000963213]benign221817323218173232Humanname
15099204CV717795single nucleotide variantNM_001371072.1(USP11):c.282T>C (p.Phe94=)not provided [RCV000970390]benignX4723917547239175Humanname
156234845CV2193338single nucleotide variantNM_005153.3(USP10):c.1072G>C (p.Ala358Pro)not specified [RCV004072843]uncertain significance168474555384745553Humanname
156266236CV2198727single nucleotide variantNM_003940.3(USP13):c.1279C>T (p.Arg427Cys)not specified [RCV004075734]uncertain significance3179740271179740271Humanname
156165758CV2200846single nucleotide variantNM_005153.3(USP10):c.2188C>G (p.Arg730Gly)not specified [RCV004081475]uncertain significance168477520484775204Humanname
156372841CV2204606single nucleotide variantNM_003940.3(USP13):c.1885A>G (p.Ile629Val)not specified [RCV004081714]uncertain significance3179754818179754818Humanname
156259251CV2204721single nucleotide variantNM_006447.3(USP16):c.1594A>C (p.Thr532Pro)not specified [RCV004074984]uncertain significance212904690429046904Humanname
156331550CV2220541single nucleotide variantNM_005153.3(USP10):c.1400G>A (p.Arg467Gln)not specified [RCV004097749]uncertain significance168475989684759896Humanname
155940348CV2222101single nucleotide variantNM_006447.3(USP16):c.1573G>A (p.Val525Ile)not specified [RCV004104863]uncertain significance212904688329046883Humanname
156084249CV2244531single nucleotide variantNM_006447.3(USP16):c.2224T>C (p.Tyr742His)not specified [RCV004100482]uncertain significance212905383229053832Humanname
156139846CV2246941single nucleotide variantNM_006447.3(USP16):c.1792A>G (p.Ser598Gly)not specified [RCV004112735]uncertain significance212904710229047102Humanname
155978732CV2247112single nucleotide variantNM_006447.3(USP16):c.1590A>C (p.Lys530Asn)not specified [RCV004114647]uncertain significance212904690029046900Humanname
156266693CV2247232single nucleotide variantNM_005153.3(USP10):c.1477A>G (p.Ile493Val)not specified [RCV004114746]uncertain significance168476019884760198Humanname
156206064CV2249926single nucleotide variantNM_003940.3(USP13):c.2159G>A (p.Gly720Asp)not specified [RCV004122898]uncertain significance3179764068179764068Humanname
156316779CV2250958single nucleotide variantNM_003940.3(USP13):c.1234G>A (p.Val412Met)not specified [RCV004123533]uncertain significance3179730689179730689Humanname
156180598CV2258455single nucleotide variantNM_005153.3(USP10):c.1895A>C (p.Gln632Pro)not specified [RCV004115647]uncertain significance168476825584768255Humanname
156211529CV2259885single nucleotide variantNM_005153.3(USP10):c.2234C>T (p.Ala745Val)not specified [RCV004118922]uncertain significance168477891984778919Humanname
156110507CV2261623single nucleotide variantNM_005153.3(USP10):c.2062C>G (p.Arg688Gly)not specified [RCV004125949]uncertain significance168477260484772604Humanname
155969325CV2262101single nucleotide variantNM_005153.3(USP10):c.1016C>G (p.Pro339Arg)not specified [RCV004126565]uncertain significance168474549784745497Humanname
156256126CV2264779single nucleotide variantNM_006447.3(USP16):c.2348A>G (p.Gln783Arg)not specified [RCV004132754]uncertain significance212905395629053956Humanname
156238103CV2265343single nucleotide variantNM_005153.3(USP10):c.1851G>T (p.Gln617His)not specified [RCV004128233]uncertain significance168476821184768211Humanname
156240017CV2265414single nucleotide variantNM_006447.3(USP16):c.1913A>G (p.Tyr638Cys)not specified [RCV004130446]uncertain significance212904722329047223Humanname
156036640CV2283081single nucleotide variantNM_005153.3(USP10):c.1252A>C (p.Ile418Leu)not specified [RCV004143693]uncertain significance168475877584758775Humanname
155962174CV2285623single nucleotide variantNM_006447.3(USP16):c.1184G>A (p.Gly395Asp)not specified [RCV004141489]uncertain significance212904342729043427Humanname
156297466CV2297682single nucleotide variantNM_003940.3(USP13):c.1829A>G (p.Asp610Gly)not specified [RCV004155365]uncertain significance3179754762179754762Humanname
156265389CV2299162single nucleotide variantNM_005153.3(USP10):c.1555G>C (p.Gly519Arg)not specified [RCV004152505]uncertain significance168476298984762989Humanname
156064730CV2317715single nucleotide variantNM_006447.3(USP16):c.2047C>A (p.Gln683Lys)not specified [RCV004174980]uncertain significance212904879629048796Humanname
156164228CV2319692single nucleotide variantNM_006447.3(USP16):c.1790A>G (p.Asp597Gly)not specified [RCV004187231]uncertain significance212904710029047100Humanname
156308149CV2332252single nucleotide variantNM_005153.3(USP10):c.1156C>A (p.Pro386Thr)not specified [RCV004182425]uncertain significance168474563784745637Humanname
156173539CV2333726single nucleotide variantNM_003940.3(USP13):c.1597G>C (p.Glu533Gln)not specified [RCV004181239]uncertain significance3179745105179745105Humanname
155977276CV2338734single nucleotide variantNM_006447.3(USP16):c.1700A>G (p.Asn567Ser)not specified [RCV004182305]uncertain significance212904701029047010Humanname
155921000CV2340376single nucleotide variantNM_003940.3(USP13):c.2047G>A (p.Ala683Thr)not specified [RCV004197107]uncertain significance3179761210179761210Humanname
156085812CV2340496single nucleotide variantNM_005153.3(USP10):c.1529T>C (p.Val510Ala)not specified [RCV004197219]uncertain significance168476025084760250Humanname
156078361CV2341182single nucleotide variantNM_003940.3(USP13):c.1497G>A (p.Met499Ile)not specified [RCV004186603]uncertain significance3179742313179742313Humanname
155974422CV2341432single nucleotide variantNM_001199161.2(USP19):c.59C>T (p.Thr20Ile)not specified [RCV004188829]uncertain significance34911908749119087Humanname
155901923CV2345891single nucleotide variantNM_003940.3(USP13):c.1891C>A (p.Pro631Thr)not specified [RCV004198932]uncertain significance3179754824179754824Humanname
156382650CV2362781single nucleotide variantNM_006447.3(USP16):c.1493T>C (p.Ile498Thr)not specified [RCV004208898]uncertain significance212904680329046803Humanname
156340323CV2363219single nucleotide variantNM_005153.3(USP10):c.2365C>A (p.Leu789Ile)not specified [RCV004213784]uncertain significance168477905084779050Humanname
156339409CV2367540single nucleotide variantNM_005153.3(USP10):c.1480C>T (p.Arg494Cys)not specified [RCV004211473]uncertain significance168476020184760201Humanname
156178542CV2374603single nucleotide variantNM_006447.3(USP16):c.1750G>C (p.Ala584Pro)not specified [RCV004225227]uncertain significance212904706029047060Humanname
156186957CV2378027single nucleotide variantNM_003940.3(USP13):c.1875A>C (p.Glu625Asp)not specified [RCV004232590]uncertain significance3179754808179754808Humanname
156059148CV2383497single nucleotide variantNM_003940.3(USP13):c.1844G>A (p.Arg615Gln)not specified [RCV004222506]uncertain significance3179754777179754777Humanname
156091910CV2384805single nucleotide variantNM_006447.3(USP16):c.2267C>T (p.Ser756Leu)not specified [RCV004232566]uncertain significance212905387529053875Humanname
156146133CV2397393single nucleotide variantNM_003940.3(USP13):c.1459C>T (p.Arg487Trp)not specified [RCV004238914]uncertain significance3179742275179742275Humanname
329370010CV2424922single nucleotide variantNM_006447.3(USP16):c.1249G>A (p.Glu417Lys)not specified [RCV004248798]uncertain significance212904349229043492Humanname
329375217CV2431420single nucleotide variantNM_006447.3(USP16):c.1552C>A (p.Gln518Lys)not specified [RCV004254585]uncertain significance212904686229046862Humanname
329381579CV2441397single nucleotide variantNM_006447.3(USP16):c.2342T>C (p.Ile781Thr)not specified [RCV004257200]uncertain significance212905395029053950Humanname
329387830CV2446828single nucleotide variantNM_006447.3(USP16):c.1924C>T (p.Arg642Cys)not specified [RCV004257683]uncertain significance212904723429047234Humanname
329391408CV2448525single nucleotide variantNM_005153.3(USP10):c.1646G>C (p.Ser549Thr)not specified [RCV004259209]uncertain significance168476308084763080Humanname
329372778CV2451652single nucleotide variantNM_006447.3(USP16):c.1649C>A (p.Thr550Lys)not specified [RCV004274568]uncertain significance212904695929046959Humanname
329368404CV2453261single nucleotide variantNM_003940.3(USP13):c.1547C>T (p.Ala516Val)not specified [RCV004266902]uncertain significance3179745055179745055Humanname
329390477CV2459278single nucleotide variantNM_006447.3(USP16):c.2216G>C (p.Arg739Thr)not specified [RCV004274709]uncertain significance212905382429053824Humanname
329392979CV2469130single nucleotide variantNM_005153.3(USP10):c.1909T>G (p.Ser637Ala)not specified [RCV004274357]uncertain significance168476826984768269Humanname
401766235CV2679617single nucleotide variantNM_003940.3(USP13):c.1607G>A (p.Arg536His)not specified [RCV004282096]uncertain significance3179745115179745115Humanname
401766348CV2679655single nucleotide variantNM_003940.3(USP13):c.1559C>G (p.Thr520Arg)not specified [RCV004282128]uncertain significance3179745067179745067Humanname
401736533CV2683045single nucleotide variantNM_003940.3(USP13):c.1732C>G (p.Pro578Ala)not specified [RCV004283822]uncertain significance3179752307179752307Humanname
401768976CV2686453single nucleotide variantNM_003940.3(USP13):c.1331G>A (p.Arg444Lys)not specified [RCV004290610]uncertain significance3179740323179740323Humanname
401722920CV2703544single nucleotide variantNM_006447.3(USP16):c.2362G>C (p.Glu788Gln)not specified [RCV004317716]uncertain significance212905407729054077Humanname
401778883CV2705834single nucleotide variantNM_006447.3(USP16):c.2014G>A (p.Glu672Lys)not specified [RCV004320451]uncertain significance212904876329048763Humanname
401741695CV2710061single nucleotide variantNM_003940.3(USP13):c.1750C>A (p.Gln584Lys)not specified [RCV004315122]uncertain significance3179752325179752325Humanname
401783303CV2716263single nucleotide variantNM_005153.3(USP10):c.2192C>G (p.Thr731Ser)not specified [RCV004323481]uncertain significance168477520884775208Humanname
401777922CV2718388single nucleotide variantNM_005153.3(USP10):c.2005A>G (p.Ile669Val)not specified [RCV004318215]uncertain significance168477254784772547Humanname
401753736CV2722569single nucleotide variantNM_005151.4(USP14):c.1447C>T (p.Arg483Cys)not specified [RCV004322943]uncertain significance18211246211246Humanname
401743823CV2726173single nucleotide variantNM_006447.3(USP16):c.1057A>T (p.Ser353Cys)not specified [RCV004326650]uncertain significance212904203929042039Humanname
401758116CV2731696single nucleotide variantNM_005151.4(USP14):c.1463T>A (p.Met488Lys)not specified [RCV004331799]uncertain significance18211262211262Humanname
401865292CV2754203single nucleotide variantNM_005153.3(USP10):c.1211C>T (p.Thr404Ile)not specified [RCV004334392]uncertain significance168475873484758734Humanname
401870946CV2759367single nucleotide variantNM_006447.3(USP16):c.1626G>A (p.Met542Ile)not specified [RCV004335948]uncertain significance212904693629046936Humanname
401883905CV2761140single nucleotide variantNM_005153.3(USP10):c.1649A>G (p.Asn550Ser)not specified [RCV004341029]uncertain significance168476308384763083Humanname
401857910CV2763041single nucleotide variantNM_006447.3(USP16):c.1490A>G (p.His497Arg)not specified [RCV004336099]uncertain significance212904680029046800Humanname
401923879CV2820852single nucleotide variantNM_001256872.1(USP17L8):c.75A>T (p.Pro25=)not provided [RCV003435426]likely benign879731797973179Humanname
401925673CV2820909single nucleotide variantNM_201402.3(USP17L2):c.1087C>T (p.Leu363=)not provided [RCV003436751]likely benign81213767412137674Humanname
401925678CV2820914single nucleotide variantNM_201402.3(USP17L2):c.148G>A (p.Asp50Asn)not provided [RCV003436756]likely benign81213861312138613Humanname
405814686CV3341593single nucleotide variantNM_005153.3(USP10):c.1166A>C (p.Glu389Ala)not specified [RCV004484479]uncertain significance168474564784745647Humanname
405814684CV3341594single nucleotide variantNM_005153.3(USP10):c.1636C>G (p.Leu546Val)not specified [RCV004484480]uncertain significance168476307084763070Humanname
405814683CV3341595single nucleotide variantNM_005153.3(USP10):c.1657C>T (p.Leu553Phe)not specified [RCV004484481]uncertain significance168476408884764088Humanname
405814681CV3341596single nucleotide variantNM_005153.3(USP10):c.1694A>G (p.Asn565Ser)not specified [RCV004484482]uncertain significance168476412584764125Humanname
405814582CV3341598single nucleotide variantNM_005153.3(USP10):c.1828A>G (p.Ile610Val)not specified [RCV004484484]uncertain significance168476425984764259Humanname
405814583CV3341599single nucleotide variantNM_005153.3(USP10):c.1887C>G (p.Phe629Leu)not specified [RCV004484485]uncertain significance168476824784768247Humanname
405814585CV3341600single nucleotide variantNM_005153.3(USP10):c.2189G>A (p.Arg730Gln)not specified [RCV004484486]uncertain significance168477520584775205Humanname
405814589CV3341602single nucleotide variantNM_005153.3(USP10):c.2198G>A (p.Arg733Gln)not specified [RCV004484488]uncertain significance168477521484775214Humanname
405814590CV3341603single nucleotide variantNM_005153.3(USP10):c.2377C>T (p.Arg793Cys)not specified [RCV004484489]uncertain significance168477906284779062Humanname
405814615CV3341616single nucleotide variantNM_182488.4(USP12):c.1038A>C (p.Glu346Asp)not specified [RCV004484502]uncertain significance132706935827069358Humanname
405814723CV3341620single nucleotide variantNM_003940.3(USP13):c.1052T>C (p.Met351Thr)not specified [RCV004484506]uncertain significance3179721553179721553Humanname
405814624CV3341621single nucleotide variantNM_003940.3(USP13):c.1313C>T (p.Pro438Leu)not specified [RCV004484507]uncertain significance3179740305179740305Humanname
405814626CV3341622single nucleotide variantNM_003940.3(USP13):c.1468C>T (p.Arg490Cys)not specified [RCV004484508]uncertain significance3179742284179742284Humanname
405814627CV3341623single nucleotide variantNM_003940.3(USP13):c.1487A>G (p.Asp496Gly)not specified [RCV004484509]uncertain significance3179742303179742303Humanname
405814631CV3341625single nucleotide variantNM_003940.3(USP13):c.1967C>T (p.Ser656Leu)not specified [RCV004484511]uncertain significance3179761130179761130Humanname
405814633CV3341626single nucleotide variantNM_003940.3(USP13):c.2080A>G (p.Met694Val)not specified [RCV004484512]uncertain significance3179761243179761243Humanname
405814634CV3341627single nucleotide variantNM_003940.3(USP13):c.2131G>C (p.Ala711Pro)not specified [RCV004484513]uncertain significance3179764040179764040Humanname
405814636CV3341628single nucleotide variantNM_003940.3(USP13):c.2197G>A (p.Val733Ile)not specified [RCV004484514]uncertain significance3179764106179764106Humanname
405814649CV3341635single nucleotide variantNM_005151.4(USP14):c.1055T>C (p.Met352Thr)not specified [RCV004484521]uncertain significance18204583204583Humanname
405814650CV3341636single nucleotide variantNM_005151.4(USP14):c.1195G>A (p.Val399Ile)not specified [RCV004484522]uncertain significance18210001210001Humanname
405814666CV3341645single nucleotide variantNM_006447.3(USP16):c.1069C>T (p.Arg357Cys)not specified [RCV004484531]uncertain significance212904205129042051Humanname
405814668CV3341646single nucleotide variantNM_006447.3(USP16):c.1195G>T (p.Val399Leu)not specified [RCV004484532]uncertain significance212904343829043438Humanname
405814670CV3341647single nucleotide variantNM_006447.3(USP16):c.1721A>G (p.Asn574Ser)not specified [RCV004484533]likely benign212904703129047031Humanname
405814739CV3341661variationNM_001242330.1(USP17L27):c.134= (p.Cys45=)not specified [RCV004484547]uncertain significance493442819344281Humanname
405663256CV3341710single nucleotide variantNM_001199161.2(USP19):c.69G>C (p.Lys23Asn)not specified [RCV004484596]uncertain significance34911907749119077Humanname
407455127CV3487397single nucleotide variantNM_005153.3(USP10):c.2353C>T (p.Arg785Cys)not specified [RCV004685414]uncertain significance168477903884779038Humanname
407455129CV3487398single nucleotide variantNM_005153.3(USP10):c.1541G>A (p.Ser514Asn)not specified [RCV004685415]uncertain significance168476026284760262Humanname
407455133CV3487400single nucleotide variantNM_005153.3(USP10):c.1660A>G (p.Thr554Ala)not specified [RCV004685417]uncertain significance168476409184764091Humanname
407455141CV3487407single nucleotide variantNM_003940.3(USP13):c.2383G>A (p.Glu795Lys)not specified [RCV004685421]uncertain significance3179765818179765818Humanname
407462601CV3487409single nucleotide variantNM_003940.3(USP13):c.2325T>A (p.Asp775Glu)not specified [RCV004688016]uncertain significance3179765760179765760Humanname
407455264CV3487410single nucleotide variantNM_003940.3(USP13):c.2300A>G (p.His767Arg)not specified [RCV004685423]uncertain significance3179765735179765735Humanname
407455262CV3487411single nucleotide variantNM_003940.3(USP13):c.1007C>T (p.Thr336Met)not specified [RCV004685424]uncertain significance3179721508179721508Humanname
407455260CV3487412single nucleotide variantNM_003940.3(USP13):c.1232A>C (p.Gln411Pro)not specified [RCV004685425]uncertain significance3179730687179730687Humanname
407455258CV3487413single nucleotide variantNM_003940.3(USP13):c.1454A>G (p.Gln485Arg)not specified [RCV004685426]uncertain significance3179742270179742270Humanname
407455256CV3487414single nucleotide variantNM_003940.3(USP13):c.2105C>T (p.Pro702Leu)not specified [RCV004685427]uncertain significance3179764014179764014Humanname
407455254CV3487415single nucleotide variantNM_003940.3(USP13):c.2390C>G (p.Pro797Arg)not specified [RCV004685428]uncertain significance3179765825179765825Humanname
407455250CV3487417single nucleotide variantNM_003940.3(USP13):c.1460G>A (p.Arg487Gln)not specified [RCV004685430]uncertain significance3179742276179742276Humanname
407455248CV3487418single nucleotide variantNM_005151.4(USP14):c.1229T>C (p.Ile410Thr)not specified [RCV004685431]uncertain significance18210389210389Humanname
407455246CV3487420single nucleotide variantNM_005151.4(USP14):c.1084G>C (p.Glu362Gln)not specified [RCV004685432]uncertain significance18204612204612Humanname
407455234CV3487426single nucleotide variantNM_006447.3(USP16):c.1651T>G (p.Ser551Ala)not specified [RCV004685438]uncertain significance212904696129046961Humanname
407455230CV3487428single nucleotide variantNM_006447.3(USP16):c.1011A>T (p.Glu337Asp)not specified [RCV004685440]uncertain significance212904066829040668Humanname
407455228CV3487429single nucleotide variantNM_006447.3(USP16):c.2411T>A (p.Val804Glu)not specified [RCV004685441]uncertain significance212905412629054126Humanname
597791421CV3626064single nucleotide variantNM_005153.3(USP10):c.1661C>G (p.Thr554Arg)not specified [RCV004876655]uncertain significance168476409284764092Humanname
597791424CV3626067single nucleotide variantNM_005153.3(USP10):c.2228A>G (p.Asn743Ser)not specified [RCV004876656]likely benign168477891384778913Humanname
597791433CV3626071single nucleotide variantNM_005153.3(USP10):c.1067C>T (p.Pro356Leu)not specified [RCV004876659]uncertain significance168474554884745548Humanname
597722260CV3626072single nucleotide variantNM_005153.3(USP10):c.1994A>G (p.Gln665Arg)not specified [RCV004888007]uncertain significance168476835484768354Humanname
597791439CV3626074single nucleotide variantNM_005153.3(USP10):c.1778G>A (p.Arg593His)not specified [RCV004876661]uncertain significance168476420984764209Humanname
597791442CV3626077single nucleotide variantNM_005153.3(USP10):c.1117G>C (p.Val373Leu)not specified [RCV004876662]uncertain significance168474559884745598Humanname
597722388CV3626101single nucleotide variantNM_003940.3(USP13):c.2146G>T (p.Ala716Ser)not specified [RCV004888016]uncertain significance3179764055179764055Humanname
597722403CV3626102single nucleotide variantNM_003940.3(USP13):c.2284G>A (p.Asp762Asn)not specified [RCV004888017]uncertain significance3179765719179765719Humanname
597798373CV3626104single nucleotide variantNM_003940.3(USP13):c.1037A>C (p.Tyr346Ser)not specified [RCV004879156]uncertain significance3179721538179721538Humanname
597798376CV3626106single nucleotide variantNM_003940.3(USP13):c.1110A>C (p.Arg370Ser)not specified [RCV004879157]uncertain significance3179730210179730210Humanname
597722496CV3626121single nucleotide variantNM_006447.3(USP16):c.1552C>G (p.Gln518Glu)not specified [RCV004888025]uncertain significance212904686229046862Humanname
597722507CV3626122single nucleotide variantNM_006447.3(USP16):c.1973C>T (p.Thr658Ile)not specified [RCV004888026]uncertain significance212904728329047283Humanname
597798401CV3626124single nucleotide variantNM_006447.3(USP16):c.2434T>G (p.Ser812Ala)not specified [RCV004879166]uncertain significance212905414929054149Humanname
597798411CV3626129single nucleotide variantNM_006447.3(USP16):c.2139C>G (p.His713Gln)not specified [RCV004879170]uncertain significance212905012429050124Humanname
597722521CV3626130single nucleotide variantNM_006447.3(USP16):c.1079G>A (p.Gly360Asp)not specified [RCV004888027]uncertain significance212904206129042061Humanname
597722532CV3626131single nucleotide variantNM_006447.3(USP16):c.1364G>T (p.Arg455Leu)not specified [RCV004888028]uncertain significance212904667429046674Humanname
597722545CV3626132single nucleotide variantNM_006447.3(USP16):c.2422A>G (p.Lys808Glu)not specified [RCV004888029]uncertain significance212905413729054137Humanname
597722559CV3626133single nucleotide variantNM_006447.3(USP16):c.2116A>C (p.Asn706His)not specified [RCV004888030]uncertain significance212905010129050101Humanname
597798441CV3626186single nucleotide variantNM_001199161.2(USP19):c.89C>G (p.Ala30Gly)not specified [RCV004879197]uncertain significance34911905749119057Humanname
598275113CV3936427single nucleotide variantNM_005153.3(USP10):c.1642C>G (p.Pro548Ala)not specified [RCV005304265]uncertain significance168476307684763076Humanname
598275115CV3936428single nucleotide variantNM_005153.3(USP10):c.2291G>A (p.Arg764His)not specified [RCV005304266]uncertain significance168477897684778976Humanname
598275117CV3936429single nucleotide variantNM_005153.3(USP10):c.1310C>T (p.Pro437Leu)not specified [RCV005304267]uncertain significance168475938884759388Humanname
598203454CV3936433single nucleotide variantNM_005153.3(USP10):c.2381G>A (p.Arg794Gln)not specified [RCV005290537]uncertain significance168477906684779066Humanname
598203475CV3936439single nucleotide variantNM_182488.4(USP12):c.1019A>G (p.Asp340Gly)not specified [RCV005290540]uncertain significance132706937727069377Humanname
598275126CV3936441single nucleotide variantNM_003940.3(USP13):c.1280G>A (p.Arg427His)not specified [RCV005304272]uncertain significance3179740272179740272Humanname
598203488CV3936442single nucleotide variantNM_003940.3(USP13):c.1208C>T (p.Pro403Leu)not specified [RCV005290542]uncertain significance3179730663179730663Humanname
598275128CV3936445single nucleotide variantNM_003940.3(USP13):c.1987G>A (p.Glu663Lys)not specified [RCV005304273]uncertain significance3179761150179761150Humanname
598275130CV3936446single nucleotide variantNM_003940.3(USP13):c.1429G>A (p.Val477Met)not specified [RCV005304274]uncertain significance3179742245179742245Humanname
598203507CV3936447single nucleotide variantNM_003940.3(USP13):c.1283T>C (p.Met428Thr)not specified [RCV005290545]uncertain significance3179740275179740275Humanname
598203514CV3936448single nucleotide variantNM_003940.3(USP13):c.1583G>A (p.Arg528Lys)not specified [RCV005290546]uncertain significance3179745091179745091Humanname
598203520CV3936449single nucleotide variantNM_003940.3(USP13):c.1154C>T (p.Thr385Ile)not specified [RCV005290547]uncertain significance3179730254179730254Humanname
598203532CV3936451single nucleotide variantNM_003940.3(USP13):c.1874A>G (p.Glu625Gly)not specified [RCV005290549]uncertain significance3179754807179754807Humanname
598275138CV3936455single nucleotide variantNM_005151.4(USP14):c.1253A>G (p.Tyr418Cys)not specified [RCV005304278]uncertain significance18210413210413Humanname
598203557CV3936461single nucleotide variantNM_006447.3(USP16):c.1510A>G (p.Met504Val)not specified [RCV005290553]uncertain significance212904682029046820Humanname
598275146CV3936463single nucleotide variantNM_006447.3(USP16):c.1103T>C (p.Met368Thr)not specified [RCV005304282]uncertain significance212904208529042085Humanname
598203563CV3936465single nucleotide variantNM_006447.3(USP16):c.1597G>A (p.Glu533Lys)not specified [RCV005290554]uncertain significance212904690729046907Humanname
598275151CV3936467single nucleotide variantNM_006447.3(USP16):c.2110G>A (p.Gly704Ser)not specified [RCV005304285]uncertain significance212905009529050095Humanname
598275152CV3936468single nucleotide variantNM_006447.3(USP16):c.1396C>A (p.His466Asn)not specified [RCV005304286]uncertain significance212904670629046706Humanname
598203569CV3936469single nucleotide variantNM_006447.3(USP16):c.1778A>G (p.Glu593Gly)not specified [RCV005290555]uncertain significance212904708829047088Humanname
598275154CV3936471single nucleotide variantNM_006447.3(USP16):c.1739A>G (p.Asn580Ser)not specified [RCV005304288]uncertain significance212904704929047049Humanname
598203576CV3936472single nucleotide variantNM_006447.3(USP16):c.2330T>C (p.Leu777Pro)not specified [RCV005290556]uncertain significance212905393829053938Humanname
15098874CV743343single nucleotide variantNM_001371072.1(USP11):c.453G>A (p.Val151=)not provided [RCV000898779]benignX4723982547239825Humanname
15098960CV758512single nucleotide variantNM_001371072.1(USP11):c.873C>T (p.Thr291=)not provided [RCV000915621]likely benignX4724130347241303Humanname
8630875CV86030single nucleotide variantNM_001199160.1(USP19):c.354C>T (p.Leu118=)Malignant melanoma [RCV000066114]not provided34911777549117775Humanname
126909828CV1052983deletionNM_005151.4(USP14):c.233_236del (p.Leu78fs)Distal arthrogryposis and CNS involvement [RCV001823201]|See cases [RCV002287499]|not provided [RCV003152626]pathogenic|uncertain significance18178969178972Human1name
150412204CV1196368single nucleotide variantNM_001371072.1(USP11):c.184G>C (p.Val62Leu)not provided [RCV001574005]|not specified [RCV004039421]uncertain significanceX4723907747239077Humanname
8654126CV130701single nucleotide variantNM_001252078.1(USP15):c.2487A>T (p.Pro829=)Lung cancer [RCV000111188]uncertain significance126239311962393119Humanname
156372627CV2194485single nucleotide variantNM_001199161.2(USP19):c.223C>T (p.Arg75Cys)not specified [RCV004079578]likely benign34911802249118022Humanname
156366993CV2203441single nucleotide variantNM_001252078.2(USP15):c.187G>A (p.Gly63Arg)not specified [RCV004072656]uncertain significance126229427662294276Humanname
156075655CV2281536single nucleotide variantNM_001199161.2(USP19):c.254C>T (p.Ser85Leu)not specified [RCV004153846]likely benign34911799149117991Humanname
156065700CV2323768single nucleotide variantNM_001199161.2(USP19):c.283G>A (p.Glu95Lys)not specified [RCV004176316]uncertain significance34911796249117962Humanname
156070035CV2355940single nucleotide variantNM_001199161.2(USP19):c.271A>C (p.Thr91Pro)not specified [RCV004201321]uncertain significance34911797449117974Humanname
329353749CV2439642single nucleotide variantNM_001199161.2(USP19):c.260G>C (p.Gly87Ala)not specified [RCV004255657]uncertain significance34911798549117985Humanname
401731100CV2707712single nucleotide variantNM_001199161.2(USP19):c.241T>C (p.Phe81Leu)not specified [RCV004306967]uncertain significance34911800449118004Humanname
401925674CV2820910single nucleotide variantNM_201402.3(USP17L2):c.887A>T (p.Gln296Leu)not provided [RCV003436752]likely benign81213787412137874Humanname
401925675CV2820911single nucleotide variantNM_201402.3(USP17L2):c.863G>A (p.Gly288Asp)not provided [RCV003436753]likely benign81213789812137898Humanname
401925676CV2820912single nucleotide variantNM_201402.3(USP17L2):c.466G>T (p.Gly156Cys)not provided [RCV003436754]likely benign81213829512138295Humanname
401926885CV2821609single nucleotide variantNM_001371072.1(USP11):c.2493C>A (p.Leu831=)not provided [RCV003438193]likely benignX4724737647247376Humanname
401926886CV2821610single nucleotide variantNM_001371072.1(USP11):c.2583T>C (p.Phe861=)not provided [RCV003438194]likely benignX4724765747247657Humanname
405265498CV3185714single nucleotide variantNM_201402.3(USP17L2):c.535G>A (p.Gly179Ser)not provided [RCV003886278]likely benign81213822612138226Humanname
405814810CV3341699single nucleotide variantNM_001199161.2(USP19):c.181C>G (p.Pro61Ala)not specified [RCV004484585]uncertain significance34911806449118064Humanname
405663851CV3341700single nucleotide variantNM_001199161.2(USP19):c.230G>A (p.Arg77His)not specified [RCV004484586]likely benign34911801549118015Humanname
407455238CV3487424single nucleotide variantNM_001252078.2(USP15):c.220G>A (p.Gly74Ser)not specified [RCV004685436]uncertain significance126230279262302792Humanname
407455165CV3487451single nucleotide variantNM_001199161.2(USP19):c.188C>T (p.Ala63Val)not specified [RCV004685461]uncertain significance34911805749118057Humanname
597722462CV3626115single nucleotide variantNM_001252078.2(USP15):c.182A>G (p.Tyr61Cys)not specified [RCV004888022]uncertain significance126229427162294271Humanname
597722635CV3626177single nucleotide variantNM_001199161.2(USP19):c.197C>T (p.Ser66Phe)not specified [RCV004888042]uncertain significance34911804849118048Humanname
598129675CV3887094single nucleotide variantNM_001256857.1(USP17L17):c.90T>A (p.Ala30=)not provided [RCV005245154]likely benign492439689243968Humanname
598203645CV3936495single nucleotide variantNM_001199161.2(USP19):c.113A>G (p.Asp38Gly)not specified [RCV005290568]uncertain significance34911903349119033Humanname
15099067CV706241single nucleotide variantNM_001371072.1(USP11):c.2433C>T (p.Phe811=)not provided [RCV000950033]benignX4724731647247316Humanname
15099146CV717796single nucleotide variantNM_001371072.1(USP11):c.2670G>A (p.Ala890=)not provided [RCV000961792]benignX4724783747247837Humanname
15190303CV720523single nucleotide variantNM_001199161.2(USP19):c.1461G>A (p.Pro487=)not provided [RCV000888062]benign34911605749116057Humanname
15098826CV729609single nucleotide variantNM_001371072.1(USP11):c.1386G>A (p.Pro462=)not provided [RCV000889387]benignX4724228847242288Humanname
15098861CV729611single nucleotide variantNM_001371072.1(USP11):c.2598C>A (p.Val866=)not provided [RCV000894582]benignX4724767247247672Humanname
15098889CV743344single nucleotide variantNM_001371072.1(USP11):c.2481C>T (p.Tyr827=)not provided [RCV000900959]benignX4724736447247364Humanname
15145014CV748361single nucleotide variantNM_001199161.2(USP19):c.1311G>A (p.Pro437=)not provided [RCV000922469]likely benign34911632449116324Humanname
15098973CV758513single nucleotide variantNM_001371072.1(USP11):c.2142C>T (p.Asp714=)not provided [RCV000920066]likely benignX4724507147245071Humanname
15098950CV758514single nucleotide variantNM_001371072.1(USP11):c.2181C>T (p.Val727=)not provided [RCV000914039]likely benignX4724539347245393Humanname
15137024CV786842single nucleotide variantNM_001371072.1(USP11):c.2571G>A (p.Gln857=)not provided [RCV000982215]benignX4724764547247645Humanname
8626516CV81660single nucleotide variantNM_201402.2(USP17L2):c.475G>A (p.Glu159Lys)Malignant melanoma [RCV000061738]not provided81213828612138286Humanname
156036678CV2218415single nucleotide variantNM_001371072.1(USP11):c.758C>T (p.Ser253Leu)not specified [RCV004090706]uncertain significanceX4724078847240788Humanname
156058775CV2239262single nucleotide variantNM_001252078.2(USP15):c.499A>G (p.Lys167Glu)not specified [RCV004112230]uncertain significance126232148762321487Humanname
156273133CV2247576single nucleotide variantNM_001199161.2(USP19):c.941C>T (p.Pro314Leu)not specified [RCV004108877]uncertain significance34911691249116912Humanname
156299219CV2248609single nucleotide variantNM_001199161.2(USP19):c.362G>A (p.Arg121Lys)not specified [RCV004121796]uncertain significance34911776749117767Humanname
156156571CV2266227single nucleotide variantNM_001371072.1(USP11):c.391C>T (p.His131Tyr)not specified [RCV004128793]uncertain significanceX4723945547239455Humanname
156367160CV2269831single nucleotide variantNM_001199161.2(USP19):c.728G>A (p.Arg243Gln)not specified [RCV004127067]uncertain significance34911724049117240Humanname
156267554CV2305054single nucleotide variantNM_001199161.2(USP19):c.833C>T (p.Pro278Leu)not specified [RCV004168938]uncertain significance34911713549117135Humanname
156166400CV2330128single nucleotide variantNM_001199161.2(USP19):c.528A>T (p.Lys176Asn)not specified [RCV004185618]uncertain significance34911751549117515Humanname
156101413CV2347802single nucleotide variantNM_001371072.1(USP11):c.576G>C (p.Glu192Asp)not specified [RCV004195459]uncertain significanceX4724034547240345Humanname
156086421CV2366283single nucleotide variantNM_001199161.2(USP19):c.869G>A (p.Arg290Gln)not specified [RCV004210298]likely benign34911709949117099Humanname
156038863CV2384213single nucleotide variantNM_001252078.2(USP15):c.673T>C (p.Ser225Pro)not specified [RCV004227607]uncertain significance126232592362325923Humanname
155904318CV2385474single nucleotide variantNM_001371072.1(USP11):c.302G>A (p.Arg101His)not specified [RCV004233121]uncertain significanceX4723936647239366Humanname
156191848CV2388557single nucleotide variantNM_001199161.2(USP19):c.539G>A (p.Arg180His)not specified [RCV004237405]uncertain significance34911750449117504Humanname
156159477CV2398116single nucleotide variantNM_001199161.2(USP19):c.901G>A (p.Ala301Thr)not specified [RCV004241700]uncertain significance34911706749117067Humanname
156451075CV2402452single nucleotide variantNM_001199161.2(USP19):c.556C>T (p.His186Tyr)not provided [RCV003123253]uncertain significance34911748749117487Humanname
329388383CV2437359single nucleotide variantNM_001252078.2(USP15):c.853C>G (p.Gln285Glu)not specified [RCV004256230]uncertain significance126235541362355413Humanname
329391446CV2448564variationNM_001242330.1(USP17L27):c.1268= (p.His423=)not specified [RCV004259243]likely benign493454159345415Humanname
401740413CV2681404single nucleotide variantNM_001199161.2(USP19):c.740G>A (p.Arg247Gln)not specified [RCV004291949]uncertain significance34911722849117228Humanname
401879156CV2764857single nucleotide variantNM_001199161.2(USP19):c.710G>A (p.Arg237Gln)not specified [RCV004334952]uncertain significance34911725849117258Humanname
401894796CV2785289single nucleotide variantNM_001199161.2(USP19):c.844G>A (p.Gly282Arg)not specified [RCV004357051]uncertain significance34911712449117124Humanname
401925727CV2820903single nucleotide variantNM_001256869.2(USP17L7):c.852C>T (p.Ser284=)not provided [RCV003436745]likely benign81213315812133158Humanname
401925671CV2820907single nucleotide variantNM_001256869.2(USP17L7):c.33C>G (p.Asp11Glu)not provided [RCV003436749]likely benign81213397712133977Humanname
401925672CV2820908single nucleotide variantNM_201402.3(USP17L2):c.1498G>A (p.Val500Met)not provided [RCV003436750]likely benign81213726312137263Humanname
401923382CV2822426single nucleotide variantNM_001256857.1(USP17L17):c.193A>C (p.Arg65=)not provided [RCV003434974]likely benign492440719244071Humanname
405814611CV3341614single nucleotide variantNM_001371072.1(USP11):c.457C>T (p.Pro153Ser)not specified [RCV004484500]uncertain significanceX4723982947239829Humanname
405814664CV3341644single nucleotide variantNM_001252078.2(USP15):c.651T>A (p.Asp217Glu)not specified [RCV004484530]uncertain significance126232590162325901Humanname
405814732CV3341657single nucleotide variantNM_001242330.1(USP17L27):c.11A>G (p.Asp4Gly)not specified [RCV004484543]uncertain significance493441589344158Humanname
405663653CV3341707single nucleotide variantNM_001199161.2(USP19):c.543G>C (p.Lys181Asn)not specified [RCV004484593]uncertain significance34911750049117500Humanname
405663522CV3341708single nucleotide variantNM_001199161.2(USP19):c.586C>G (p.Leu196Val)not specified [RCV004484594]uncertain significance34911745749117457Humanname
405663383CV3341709single nucleotide variantNM_001199161.2(USP19):c.647G>A (p.Arg216Gln)not specified [RCV004484595]likely benign34911732149117321Humanname
407455137CV3487403single nucleotide variantNM_001371072.1(USP11):c.929G>C (p.Gly310Ala)not specified [RCV004685419]uncertain significanceX4724135947241359Humanname
407462595CV3487405single nucleotide variantNM_001371072.1(USP11):c.500C>T (p.Ser167Phe)not specified [RCV004688014]uncertain significanceX4723987247239872Humanname
407455151CV3487442single nucleotide variantNM_001199161.2(USP19):c.332C>T (p.Thr111Ile)not specified [RCV004685454]uncertain significance34911779749117797Humanname
407455267CV3487443single nucleotide variantNM_001199161.2(USP19):c.538C>G (p.Arg180Gly)not specified [RCV004685455]uncertain significance34911750549117505Humanname
407455156CV3487445single nucleotide variantNM_001199161.2(USP19):c.709C>T (p.Arg237Trp)not specified [RCV004685457]uncertain significance34911725949117259Humanname
407455163CV3487450single nucleotide variantNM_001199161.2(USP19):c.394C>T (p.Arg132Cys)not specified [RCV004685460]uncertain significance34911773549117735Humanname
407455167CV3487452single nucleotide variantNM_001199161.2(USP19):c.802G>A (p.Ala268Thr)not specified [RCV004685462]uncertain significance34911716649117166Humanname
407455171CV3487454single nucleotide variantNM_001199161.2(USP19):c.475G>T (p.Gly159Cys)not specified [RCV004685464]uncertain significance34911756849117568Humanname
597798347CV3626086single nucleotide variantNM_001371072.1(USP11):c.559G>A (p.Glu187Lys)not specified [RCV004879147]uncertain significanceX4724032847240328Humanname
597722436CV3626110single nucleotide variantNM_001252078.2(USP15):c.446C>T (p.Thr149Ile)not specified [RCV004888020]uncertain significance126231488762314887Humanname
597798431CV3626178single nucleotide variantNM_001199161.2(USP19):c.520T>C (p.Cys174Arg)not specified [RCV004879192]uncertain significance34911752349117523Humanname
597798439CV3626185single nucleotide variantNM_001199161.2(USP19):c.658A>G (p.Asn220Asp)not specified [RCV004879196]uncertain significance34911731049117310Humanname
598129676CV3887095single nucleotide variantNM_001256857.1(USP17L17):c.276C>T (p.Asn92=)not provided [RCV005245155]likely benign492441549244154Humanname
598275121CV3936434single nucleotide variantNM_001371072.1(USP11):c.943A>G (p.Ile315Val)not specified [RCV005304269]uncertain significanceX4724137347241373Humanname
598275142CV3936459single nucleotide variantNM_001252078.2(USP15):c.552G>A (p.Met184Ile)not specified [RCV005304280]uncertain significance126232154062321540Humanname
598203582CV3936474variationNM_001242330.1(USP17L27):c.1057= (p.Glu353=)not specified [RCV005290557]likely benign493452049345204Humanname
598203665CV3936503single nucleotide variantNM_001199161.2(USP19):c.596C>T (p.Pro199Leu)not specified [RCV005290571]uncertain significance34911744749117447Humanname
8632814CV88029single nucleotide variantNM_201402.2(USP17L2):c.1205G>A (p.Arg402Gln)Malignant melanoma [RCV000068121]not provided81213755612137556Humanname
150411247CV1195980single nucleotide variantNM_001256860.1(USP17L19):c.67T>C (p.Ser23Pro)not provided [RCV001573576]|not specified [RCV001726594]benign|likely benign492534449253444Humanname
10398631CV204091single nucleotide variantNM_001199161.2(USP19):c.1134G>T (p.Glu378Asp)Long QT syndrome [RCV000190198]likely benign34911660049116600Human2name
156397893CV2193886single nucleotide variantNM_001371072.1(USP11):c.1498G>A (p.Ala500Thr)not specified [RCV004074627]uncertain significanceX4724263547242635Humanname
156179773CV2201685single nucleotide variantNM_001199161.2(USP19):c.2485G>A (p.Glu829Lys)not specified [RCV004082139]uncertain significance34911401249114012Humanname
156089272CV2202049single nucleotide variantNM_001199161.2(USP19):c.1210G>A (p.Val404Met)not specified [RCV004075967]uncertain significance34911652449116524Humanname
156110417CV2207611single nucleotide variantNM_001199161.2(USP19):c.2232C>G (p.Phe744Leu)not specified [RCV004090393]uncertain significance34911482349114823Humanname
156378953CV2207847single nucleotide variantNM_001199161.2(USP19):c.1034C>T (p.Ser345Phe)not specified [RCV004084279]uncertain significance34911681949116819Humanname
156116716CV2209108single nucleotide variantNM_001199161.2(USP19):c.1306C>T (p.His436Tyr)not specified [RCV004093335]uncertain significance34911632949116329Humanname
155940861CV2232269single nucleotide variantNM_001371072.1(USP11):c.2218G>A (p.Glu740Lys)not specified [RCV004105052]uncertain significanceX4724543047245430Humanname
155941108CV2232443single nucleotide variantNM_001199161.2(USP19):c.2207G>A (p.Arg736Gln)not specified [RCV004099062]uncertain significance34911484849114848Humanname
155920921CV2240440single nucleotide variantNM_001252078.2(USP15):c.1901G>T (p.Cys634Phe)not specified [RCV004117329]uncertain significance126239092062390920Humanname
156078783CV2248384single nucleotide variantNM_001371072.1(USP11):c.2065A>G (p.Thr689Ala)not specified [RCV004119530]uncertain significanceX4724490347244903Humanname
156071495CV2251420single nucleotide variantNM_001242330.1(USP17L27):c.80C>A (p.Ala27Glu)not specified [RCV004117402]uncertain significance493442279344227Humanname
156175405CV2254659single nucleotide variantNM_001371072.1(USP11):c.1503T>A (p.Asp501Glu)not specified [RCV004115146]uncertain significanceX4724264047242640Humanname
156175420CV2254660single nucleotide variantNM_001371072.1(USP11):c.1505T>A (p.Val502Asp)not specified [RCV004115147]uncertain significanceX4724264247242642Humanname
156175435CV2254661single nucleotide variantNM_001371072.1(USP11):c.1507T>A (p.Phe503Ile)not specified [RCV004115148]uncertain significanceX4724264447242644Humanname
156334479CV2263296single nucleotide variantNM_001252078.2(USP15):c.1693G>A (p.Val565Met)not specified [RCV004133574]uncertain significance126238983762389837Humanname
155972085CV2271490single nucleotide variantNM_001199161.2(USP19):c.1963G>A (p.Val655Met)not specified [RCV004128586]uncertain significance34911528749115287Humanname
155982451CV2272971single nucleotide variantNM_001252078.2(USP15):c.2902A>G (p.Asn968Asp)not specified [RCV004137640]uncertain significance126240433162404331Humanname
155991506CV2276599single nucleotide variantNM_001252078.2(USP15):c.1512T>A (p.Asp504Glu)not specified [RCV004146086]uncertain significance126238946962389469Humanname
155929071CV2277931single nucleotide variantNM_001199161.2(USP19):c.2708C>T (p.Ser903Leu)not specified [RCV004141184]uncertain significance34911234149112341Humanname
156245564CV2283431single nucleotide variantNM_001252078.2(USP15):c.2620C>A (p.Arg874Ser)not specified [RCV004139654]uncertain significance126239634462396344Humanname
155959971CV2285345single nucleotide variantNM_001252078.2(USP15):c.1939A>T (p.Ile647Leu)not specified [RCV004139219]uncertain significance126239095862390958Humanname
156002656CV2288098single nucleotide variantNM_001199161.2(USP19):c.1061C>G (p.Pro354Arg)not specified [RCV004149633]uncertain significance34911679249116792Humanname
156010346CV2291005single nucleotide variantNM_001199161.2(USP19):c.2812C>G (p.Pro938Ala)not specified [RCV004151552]uncertain significance34911200249112002Humanname
155940124CV2294030single nucleotide variantNM_001199161.2(USP19):c.2398A>T (p.Ile800Phe)not specified [RCV004149418]uncertain significance34911417949114179Humanname
155908172CV2302369single nucleotide variantNM_001252078.2(USP15):c.2497G>A (p.Val833Ile)not specified [RCV004161121]uncertain significance126239312962393129Humanname
156166945CV2319973single nucleotide variantNM_001199161.2(USP19):c.1204G>A (p.Val402Met)not specified [RCV004167846]uncertain significance34911653049116530Humanname
156352650CV2324018single nucleotide variantNM_001199161.2(USP19):c.1460C>T (p.Pro487Leu)not specified [RCV004176531]uncertain significance34911605849116058Humanname
156395148CV2325178single nucleotide variantNM_001371072.1(USP11):c.2653C>A (p.Gln885Lys)not specified [RCV004177595]uncertain significanceX4724782047247820Humanname
156274841CV2330629single nucleotide variantNM_001252078.2(USP15):c.1852G>A (p.Val618Ile)not specified [RCV004183658]uncertain significance126239087162390871Humanname
155914009CV2341904single nucleotide variantNM_001371072.1(USP11):c.1867G>A (p.Asp623Asn)not specified [RCV004184852]likely benignX4724470547244705Humanname
156003400CV2357452single nucleotide variantNM_001371072.1(USP11):c.2729C>T (p.Ser910Phe)not specified [RCV004202744]uncertain significanceX4724789647247896Humanname
156255020CV2358934single nucleotide variantNM_001199161.2(USP19):c.1664C>A (p.Thr555Asn)not specified [RCV004212269]uncertain significance34911575249115752Humanname
156336665CV2360786single nucleotide variantNM_001199161.2(USP19):c.2510T>C (p.Ile837Thr)not specified [RCV004213563]uncertain significance34911262549112625Humanname
155908704CV2387411single nucleotide variantNM_001199161.2(USP19):c.2839G>T (p.Val947Phe)not specified [RCV004240278]uncertain significance34911197549111975Humanname
156172181CV2400764single nucleotide variantNM_001199161.2(USP19):c.1071T>A (p.Asp357Glu)not specified [RCV004242428]uncertain significance34911678249116782Humanname
329359312CV2435419single nucleotide variantNM_001199161.2(USP19):c.1100C>T (p.Ala367Val)not specified [RCV004253071]uncertain significance34911675349116753Humanname
329361547CV2437620single nucleotide variantNM_001199161.2(USP19):c.1498G>A (p.Val500Met)not specified [RCV004260939]uncertain significance34911591849115918Humanname
329379764CV2443545single nucleotide variantNM_001252078.2(USP15):c.1069G>A (p.Val357Ile)not specified [RCV004262373]uncertain significance126238164362381643Humanname
329368543CV2450356single nucleotide variantNM_001199161.2(USP19):c.2186T>C (p.Val729Ala)not specified [RCV004271432]uncertain significance34911486949114869Humanname
329379938CV2452848single nucleotide variantNM_001252078.2(USP15):c.2446C>G (p.Gln816Glu)not specified [RCV004277499]uncertain significance126239307862393078Humanname
329372237CV2455121single nucleotide variantNM_001252078.2(USP15):c.1291G>T (p.Asp431Tyr)not specified [RCV004272365]uncertain significance126238412062384120Humanname
329395283CV2457905single nucleotide variantNM_001252078.2(USP15):c.1922G>A (p.Gly641Glu)not specified [RCV004271495]uncertain significance126239094162390941Humanname
329393126CV2469340single nucleotide variantNM_001371072.1(USP11):c.2419C>T (p.Arg807Trp)not specified [RCV004280671]uncertain significanceX4724722047247220Humanname
329388844CV2469614single nucleotide variantNM_001199161.2(USP19):c.2353G>A (p.Val785Ile)not specified [RCV004283042]uncertain significance34911422449114224Humanname
401780214CV2673921single nucleotide variantNM_001199161.2(USP19):c.1973G>A (p.Arg658Gln)not specified [RCV004293295]uncertain significance34911527749115277Humanname
401768154CV2675071single nucleotide variantNM_001199161.2(USP19):c.1616A>G (p.Asp539Gly)not specified [RCV004289853]uncertain significance34911580049115800Humanname
401740319CV2683323single nucleotide variantNM_001371072.1(USP11):c.2288A>G (p.Lys763Arg)not specified [RCV004288099]uncertain significanceX4724708947247089Humanname
401745288CV2693224single nucleotide variantNM_001199161.2(USP19):c.1447G>A (p.Gly483Ser)not specified [RCV004295199]uncertain significance34911607149116071Humanname
401752222CV2710604single nucleotide variantNM_001199161.2(USP19):c.2278C>T (p.Pro760Ser)not specified [RCV004319520]uncertain significance34911477749114777Humanname
401780906CV2716977single nucleotide variantNM_001242330.1(USP17L27):c.31G>C (p.Glu11Gln)not specified [RCV004330049]uncertain significance493441789344178Humanname
401752265CV2723177single nucleotide variantNM_001199161.2(USP19):c.1664C>T (p.Thr555Ile)not specified [RCV004329421]uncertain significance34911575249115752Humanname
401884283CV2761639single nucleotide variantNM_001371072.1(USP11):c.1744C>T (p.Arg582Cys)not specified [RCV004337259]uncertain significanceX4724355647243556Humanname
401891580CV2769023single nucleotide variantNM_001371072.1(USP11):c.2093C>T (p.Pro698Leu)not specified [RCV004348894]uncertain significanceX4724502247245022Humanname
401892081CV2777215single nucleotide variantNM_001199161.2(USP19):c.1522G>A (p.Asp508Asn)not specified [RCV004354248]uncertain significance34911589449115894Humanname
401878176CV2777784single nucleotide variantNM_001252078.2(USP15):c.1562T>C (p.Ile521Thr)not specified [RCV004345612]uncertain significance126238960962389609Humanname
401880426CV2780085single nucleotide variantNM_001252078.2(USP15):c.2014C>G (p.Pro672Ala)not specified [RCV004355747]uncertain significance126239121062391210Humanname
401871611CV2783554single nucleotide variantNM_001199161.2(USP19):c.1943G>A (p.Arg648His)not specified [RCV004365883]uncertain significance34911530749115307Humanname
401923871CV2820843single nucleotide variantNM_001256873.1(USP17L1):c.1182C>T (p.Leu394=)not provided [RCV003435420]likely benign873335687333568Humanname
401923874CV2820845single nucleotide variantNM_001256874.1(USP17L4):c.122C>A (p.Ser41Ter)not provided [RCV003435422]likely benign873372367337236Humanname
401925693CV2820905single nucleotide variantNM_001256869.2(USP17L7):c.145T>G (p.Phe49Val)not provided [RCV003436747]likely benign81213386512133865Humanname
401925670CV2820906single nucleotide variantNM_001256869.2(USP17L7):c.139A>G (p.Thr47Ala)not provided [RCV003436748]likely benign81213387112133871Humanname
401926884CV2821608single nucleotide variantNM_001371072.1(USP11):c.2465C>T (p.Ser822Leu)not provided [RCV003438192]|not specified [RCV004364642]likely benign|uncertain significanceX4724734847247348Humanname
401927939CV2822427single nucleotide variantNM_001256863.1(USP17L22):c.852C>T (p.Ser284=)not provided [RCV003439257]likely benign492684709268470Humanname
401927941CV2822428single nucleotide variantNM_001256863.1(USP17L22):c.870G>A (p.Lys290=)not provided [RCV003439258]likely benign492684889268488Humanname
405814603CV3341610single nucleotide variantNM_001371072.1(USP11):c.1339A>G (p.Ile447Val)not specified [RCV004484496]likely benignX4724224147242241Humanname
405814605CV3341611single nucleotide variantNM_001371072.1(USP11):c.1529T>C (p.Leu510Pro)not specified [RCV004484497]uncertain significanceX4724266647242666Humanname
405814607CV3341612single nucleotide variantNM_001371072.1(USP11):c.1943C>T (p.Thr648Met)not specified [RCV004484498]uncertain significanceX4724478147244781Humanname
405814609CV3341613single nucleotide variantNM_001371072.1(USP11):c.2179G>A (p.Val727Ile)not specified [RCV004484499]uncertain significanceX4724539147245391Humanname
405814657CV3341640single nucleotide variantNM_001252078.2(USP15):c.1093C>G (p.Gln365Glu)not specified [RCV004484526]uncertain significance126238384362383843Humanname
405814661CV3341642single nucleotide variantNM_001252078.2(USP15):c.2897A>G (p.Asn966Ser)not specified [RCV004484528]uncertain significance126240432662404326Humanname
405814663CV3341643single nucleotide variantNM_001252078.2(USP15):c.2933T>G (p.Met978Arg)not specified [RCV004484529]uncertain significance126240436262404362Humanname
405814764CV3341674single nucleotide variantNM_001242330.1(USP17L27):c.43A>C (p.Asn15His)not specified [RCV004484560]uncertain significance493441909344190Humanname
405814773CV3341679single nucleotide variantNM_001242330.1(USP17L27):c.83C>T (p.Ala28Val)not specified [RCV004484565]uncertain significance493442309344230Humanname
405814777CV3341681single nucleotide variantNM_001242330.1(USP17L27):c.88G>C (p.Ala30Pro)not specified [RCV004484567]uncertain significance493442359344235Humanname
405814795CV3341691single nucleotide variantNM_001199161.2(USP19):c.1042A>G (p.Met348Val)not specified [RCV004484577]uncertain significance34911681149116811Humanname
405814797CV3341692single nucleotide variantNM_001199161.2(USP19):c.1184C>T (p.Pro395Leu)not specified [RCV004484578]uncertain significance34911655049116550Humanname
405814799CV3341693single nucleotide variantNM_001199161.2(USP19):c.1310C>T (p.Pro437Leu)not specified [RCV004484579]uncertain significance34911632549116325Humanname
405814801CV3341694single nucleotide variantNM_001199161.2(USP19):c.1325A>T (p.His442Leu)not specified [RCV004484580]uncertain significance34911631049116310Humanname
405814803CV3341695single nucleotide variantNM_001199161.2(USP19):c.1448G>T (p.Gly483Val)not specified [RCV004484581]uncertain significance34911607049116070Humanname
405814806CV3341697single nucleotide variantNM_001199161.2(USP19):c.1513A>G (p.Thr505Ala)not specified [RCV004484583]uncertain significance34911590349115903Humanname
405814808CV3341698single nucleotide variantNM_001199161.2(USP19):c.1629C>G (p.Asp543Glu)not specified [RCV004484584]likely benign34911578749115787Humanname
405663846CV3341701single nucleotide variantNM_001199161.2(USP19):c.2359C>T (p.Pro787Ser)not specified [RCV004484587]uncertain significance34911421849114218Humanname
405663835CV3341703single nucleotide variantNM_001199161.2(USP19):c.2619G>C (p.Glu873Asp)not specified [RCV004484589]uncertain significance34911251649112516Humanname
405663831CV3341704single nucleotide variantNM_001199161.2(USP19):c.2708C>G (p.Ser903Trp)not specified [RCV004484590]uncertain significance34911234149112341Humanname
407455139CV3487404single nucleotide variantNM_001371072.1(USP11):c.1618G>A (p.Gly540Ser)not specified [RCV004685420]uncertain significanceX4724343047243430Humanname
407455242CV3487422single nucleotide variantNM_001252078.2(USP15):c.2620C>T (p.Arg874Cys)not specified [RCV004685434]uncertain significance126239634462396344Humanname
407455240CV3487423single nucleotide variantNM_001252078.2(USP15):c.1994C>A (p.Ser665Tyr)not specified [RCV004685435]uncertain significance126239119062391190Humanname
407455236CV3487425single nucleotide variantNM_001252078.2(USP15):c.2240C>G (p.Ser747Cys)not specified [RCV004685437]uncertain significance126239182262391822Humanname
407455148CV3487441single nucleotide variantNM_001199161.2(USP19):c.1151C>T (p.Ala384Val)not specified [RCV004685453]uncertain significance34911658349116583Humanname
407455154CV3487444single nucleotide variantNM_001199161.2(USP19):c.2788C>G (p.Pro930Ala)not specified [RCV004685456]uncertain significance34911202649112026Humanname
407455158CV3487447single nucleotide variantNM_001199161.2(USP19):c.1764A>C (p.Glu588Asp)not specified [RCV004685458]uncertain significance34911556849115568Humanname
407462609CV3487448single nucleotide variantNM_001199161.2(USP19):c.1018G>A (p.Gly340Arg)not specified [RCV004688019]likely benign34911683549116835Humanname
407455160CV3487449single nucleotide variantNM_001199161.2(USP19):c.2338C>T (p.Pro780Ser)not specified [RCV004685459]uncertain significance34911423949114239Humanname
407455174CV3487455single nucleotide variantNM_001199161.2(USP19):c.2696G>A (p.Arg899Gln)not specified [RCV004685465]uncertain significance34911235349112353Humanname
407455176CV3487458single nucleotide variantNM_001199161.2(USP19):c.2216T>A (p.Met739Lys)not specified [RCV004685466]uncertain significance34911483949114839Humanname
596947943CV3547534single nucleotide variantNM_001256857.1(USP17L17):c.306G>A (p.Pro102=)not provided [RCV004811838]likely benign492441849244184Humanname
596947979CV3547570single nucleotide variantNM_001256857.1(USP17L17):c.327G>C (p.Leu109=)not provided [RCV004811874]likely benign492442059244205Humanname
12791780CV362140single nucleotide variantNM_001199161.2(USP19):c.1660G>T (p.Val554Leu)Epileptic encephalopathy [RCV000416476]pathogenic34911575649115756Human2name
12791687CV362141single nucleotide variantNM_001199161.2(USP19):c.1572G>T (p.Glu524Asp)Epileptic encephalopathy [RCV000416439]pathogenic34911584449115844Human2name
597722299CV3626082single nucleotide variantNM_001371072.1(USP11):c.1672C>T (p.Arg558Cys)not specified [RCV004888010]uncertain significanceX4724348447243484Humanname
597791451CV3626083single nucleotide variantNM_001371072.1(USP11):c.2087C>A (p.Ala696Asp)not specified [RCV004876665]uncertain significanceX4724501647245016Humanname
597798343CV3626084single nucleotide variantNM_001371072.1(USP11):c.1568G>A (p.Arg523His)not specified [RCV004879146]uncertain significanceX4724270547242705Humanname
597722315CV3626085single nucleotide variantNM_001371072.1(USP11):c.1904A>T (p.Asp635Val)not specified [RCV004888011]uncertain significanceX4724474247244742Humanname
597798350CV3626089single nucleotide variantNM_001371072.1(USP11):c.1828G>A (p.Asp610Asn)not specified [RCV004879148]uncertain significanceX4724453547244535Humanname
597798351CV3626090single nucleotide variantNM_001371072.1(USP11):c.2072C>G (p.Pro691Arg)not specified [RCV004879149]uncertain significanceX4724491047244910Humanname
597722343CV3626092single nucleotide variantNM_001371072.1(USP11):c.1358T>C (p.Leu453Ser)not specified [RCV004888013]uncertain significanceX4724226047242260Humanname
597798384CV3626111single nucleotide variantNM_001252078.2(USP15):c.1729C>T (p.His577Tyr)not specified [RCV004879160]uncertain significance126238987362389873Humanname
597798387CV3626112single nucleotide variantNM_001252078.2(USP15):c.1492A>C (p.Lys498Gln)not specified [RCV004879161]uncertain significance126238944962389449Humanname
597723156CV3626113single nucleotide variantNM_001252078.2(USP15):c.2837G>A (p.Arg946Gln)not specified [RCV004888021]uncertain significance126240426662404266Humanname
597798390CV3626114single nucleotide variantNM_001252078.2(USP15):c.2129G>A (p.Arg710Gln)not specified [RCV004879162]uncertain significance126239132562391325Humanname
597722472CV3626116single nucleotide variantNM_001252078.2(USP15):c.2180T>A (p.Ile727Asn)not specified [RCV004888023]uncertain significance126239137662391376Humanname
597798392CV3626118single nucleotide variantNM_001252078.2(USP15):c.2939C>G (p.Thr980Ser)not specified [RCV004879163]uncertain significance126240436862404368Humanname
597798395CV3626119single nucleotide variantNM_001252078.2(USP15):c.2060A>T (p.Asp687Val)not specified [RCV004879164]uncertain significance126239125662391256Humanname
597690797CV3626136single nucleotide variantNM_001242330.1(USP17L27):c.70C>T (p.Arg24Trp)not specified [RCV004888031]uncertain significance493442179344217Humanname
597691165CV3626154single nucleotide variantNM_001242330.1(USP17L27):c.32A>C (p.Glu11Ala)not specified [RCV004879183]uncertain significance493441799344179Humanname
597722571CV3626167single nucleotide variantNM_001199161.2(USP19):c.1576C>T (p.Arg526Trp)not specified [RCV004888037]uncertain significance34911584049115840Humanname
597798425CV3626169single nucleotide variantNM_001199161.2(USP19):c.2673C>G (p.Ile891Met)not specified [RCV004879189]uncertain significance34911237649112376Humanname
597798427CV3626171single nucleotide variantNM_001199161.2(USP19):c.2620C>T (p.Arg874Trp)not specified [RCV004879190]uncertain significance34911251549112515Humanname
597722611CV3626175single nucleotide variantNM_001199161.2(USP19):c.1617C>G (p.Asp539Glu)not specified [RCV004888040]uncertain significance34911579949115799Humanname
597722624CV3626176single nucleotide variantNM_001199161.2(USP19):c.1918A>T (p.Asn640Tyr)not specified [RCV004888041]uncertain significance34911533249115332Humanname
597722648CV3626179single nucleotide variantNM_001199161.2(USP19):c.1076G>T (p.Cys359Phe)not specified [RCV004888043]uncertain significance34911677749116777Humanname
597722657CV3626181single nucleotide variantNM_001199161.2(USP19):c.1628A>G (p.Asp543Gly)not specified [RCV004888044]uncertain significance34911578849115788Humanname
598275123CV3936435single nucleotide variantNM_001371072.1(USP11):c.2692G>A (p.Gly898Ser)not specified [RCV005304270]uncertain significanceX4724785947247859Humanname
598203461CV3936436single nucleotide variantNM_001371072.1(USP11):c.1673G>A (p.Arg558His)not specified [RCV005290538]uncertain significanceX4724348547243485Humanname
598203467CV3936437single nucleotide variantNM_001371072.1(USP11):c.1420C>T (p.Pro474Ser)not specified [RCV005290539]uncertain significanceX4724245447242454Humanname
598203545CV3936458single nucleotide variantNM_001252078.2(USP15):c.1573A>G (p.Ile525Val)not specified [RCV005290551]uncertain significance126238962062389620Humanname
598203550CV3936460single nucleotide variantNM_001252078.2(USP15):c.2248G>A (p.Ala750Thr)not specified [RCV005290552]uncertain significance126239183062391830Humanname
598203589CV3936476single nucleotide variantNM_001242330.1(USP17L27):c.74C>T (p.Pro25Leu)not specified [RCV005290558]uncertain significance493442219344221Humanname
598203629CV3936491single nucleotide variantNM_001199161.2(USP19):c.2476G>A (p.Val826Met)not specified [RCV005290565]uncertain significance34911402149114021Humanname
598275166CV3936497single nucleotide variantNM_001199161.2(USP19):c.2621G>A (p.Arg874Gln)not specified [RCV005304300]uncertain significance34911251449112514Humanname
598275168CV3936499single nucleotide variantNM_001199161.2(USP19):c.2170C>T (p.Arg724Trp)not specified [RCV005304302]uncertain significance34911497049114970Humanname
598275169CV3936500single nucleotide variantNM_001199161.2(USP19):c.2209C>A (p.His737Asn)not specified [RCV005304303]uncertain significance34911484649114846Humanname
598275170CV3936501single nucleotide variantNM_001199161.2(USP19):c.1265C>T (p.Thr422Met)not specified [RCV005304304]uncertain significance34911646949116469Humanname
598203657CV3936502single nucleotide variantNM_001199161.2(USP19):c.1892G>A (p.Arg631His)not specified [RCV005290570]uncertain significance34911535849115358Humanname
598203671CV3936505single nucleotide variantNM_001199161.2(USP19):c.1975G>A (p.Ala659Thr)not specified [RCV005290572]uncertain significance34911527549115275Humanname
598275172CV3936506single nucleotide variantNM_001199161.2(USP19):c.2803C>T (p.Leu935Phe)not specified [RCV005304306]uncertain significance34911201149112011Humanname
598203678CV3936507single nucleotide variantNM_001199161.2(USP19):c.1447G>C (p.Gly483Arg)not specified [RCV005290573]uncertain significance34911607149116071Humanname
598275173CV3936509single nucleotide variantNM_001199161.2(USP19):c.2944C>T (p.Arg982Cys)not specified [RCV005304307]uncertain significance34911177349111773Humanname
617152365CV4020736single nucleotide variantNM_001256852.1(USP17L10):c.423T>C (p.His141=)not provided [RCV005427993]likely benign492110799211079Humanname
15126908CV708923single nucleotide variantNM_001199161.2(USP19):c.2519G>A (p.Arg840His)not provided [RCV000963818]likely benign34911261649112616Humanname
15098801CV729610single nucleotide variantNM_001371072.1(USP11):c.1939G>A (p.Val647Ile)not provided [RCV000885367]benignX4724477747244777Humanname
40815906CV970553single nucleotide variantNM_001371072.1(USP11):c.2420G>A (p.Arg807Gln)not provided [RCV001262015]uncertain significanceX4724722147247221Humanname
156378768CV2207801single nucleotide variantNM_001242330.1(USP17L27):c.239C>A (p.Ala80Asp)not specified [RCV004084236]uncertain significance493443869344386Humanname
155928210CV2218584single nucleotide variantNM_001242330.1(USP17L27):c.212G>C (p.Ser71Thr)not specified [RCV004090849]uncertain significance493443599344359Humanname
155926584CV2230644single nucleotide variantNM_001242330.1(USP17L27):c.211A>G (p.Ser71Gly)not specified [RCV004097596]uncertain significance493443589344358Humanname
156291999CV2296742single nucleotide variantNM_001199161.2(USP19):c.3470G>A (p.Arg1157Gln)not specified [RCV004148647]uncertain significance34911102549111025Humanname
156207425CV2307937single nucleotide variantNM_001199161.2(USP19):c.3089C>A (p.Pro1030His)not specified [RCV004170383]uncertain significance34911162849111628Humanname
156241806CV2310283single nucleotide variantNM_001199161.2(USP19):c.3628C>T (p.Leu1210Phe)not specified [RCV004157027]uncertain significance34911078149110781Humanname
156054275CV2320448single nucleotide variantNM_001199161.2(USP19):c.3202G>T (p.Val1068Leu)not specified [RCV004172090]uncertain significance34911151549111515Humanname
156173868CV2333750single nucleotide variantNM_001242330.1(USP17L27):c.236G>A (p.Gly79Glu)not specified [RCV004181261]uncertain significance493443839344383Humanname
155916816CV2336212single nucleotide variantNM_001242330.1(USP17L27):c.181C>A (p.Gln61Lys)not specified [RCV004191968]uncertain significance493443289344328Humanname
155976220CV2338572single nucleotide variantNM_001242330.1(USP17L27):c.185T>A (p.Leu62His)not specified [RCV004182166]uncertain significance493443329344332Humanname
156331741CV2339683single nucleotide variantNM_001242329.1(USP17L5):c.761G>C (p.Cys254Ser)not specified [RCV004196387]uncertain significance493401639340163Humanname
155920485CV2343358single nucleotide variantNM_001199161.2(USP19):c.3112C>T (p.Arg1038Trp)not specified [RCV004194972]uncertain significance34911160549111605Humanname
155904777CV2349576single nucleotide variantNM_001242328.1(USP17L26):c.109C>T (p.Leu37Phe)not specified [RCV004204003]uncertain significance493347669334766Humanname
156171735CV2355015single nucleotide variantNM_001242330.1(USP17L27):c.203T>C (p.Leu68Pro)not specified [RCV004198415]uncertain significance493443509344350Humanname
156051108CV2367686single nucleotide variantNM_001199161.2(USP19):c.3113G>A (p.Arg1038Gln)not specified [RCV004211604]uncertain significance34911160449111604Humanname
156338754CV2370758single nucleotide variantNM_001242329.1(USP17L5):c.605G>T (p.Arg202Ile)not specified [RCV004209156]uncertain significance493400079340007Humanname
156268428CV2372034single nucleotide variantNM_001242330.1(USP17L27):c.230C>T (p.Ala77Val)not specified [RCV004221705]uncertain significance493443779344377Humanname
156084847CV2382030single nucleotide variantNM_001199161.2(USP19):c.3893C>T (p.Thr1298Met)not specified [RCV004225952]uncertain significance34911032949110329Humanname
155908105CV2387221single nucleotide variantNM_001199161.2(USP19):c.3116G>T (p.Gly1039Val)not specified [RCV004238319]uncertain significance34911160149111601Humanname
156064129CV2389447single nucleotide variantNM_001199161.2(USP19):c.3209G>A (p.Arg1070Gln)not specified [RCV004238173]uncertain significance34911150849111508Humanname
329369514CV2424844single nucleotide variantNM_001199161.2(USP19):c.3253A>T (p.Met1085Leu)not specified [RCV004248729]uncertain significance34911133049111330Humanname
329382972CV2434416single nucleotide variantNM_001242330.1(USP17L27):c.255G>A (p.Met85Ile)not specified [RCV004254130]uncertain significance493444029344402Humanname
329400281CV2437563single nucleotide variantNM_001199161.2(USP19):c.3457G>A (p.Gly1153Ser)not specified [RCV004258846]uncertain significance34911103849111038Humanname
329399848CV2444284single nucleotide variantNM_001242330.1(USP17L27):c.252T>G (p.Asn84Lys)not specified [RCV004263050]uncertain significance493443999344399Humanname
329354412CV2448131single nucleotide variantNM_001199161.2(USP19):c.3949C>T (p.Arg1317Trp)not specified [RCV004263351]uncertain significance34911027349110273Humanname
401733381CV2685510single nucleotide variantNM_001199161.2(USP19):c.3487C>G (p.Leu1163Val)not specified [RCV004294530]uncertain significance34911100849111008Humanname
401748119CV2700007single nucleotide variantNM_001199161.2(USP19):c.3563A>G (p.Lys1188Arg)not specified [RCV004310436]uncertain significance34911084649110846Humanname
401739247CV2708386single nucleotide variantNM_001199161.2(USP19):c.4000C>T (p.Pro1334Ser)not specified [RCV004313501]uncertain significance34911022249110222Humanname
401874874CV2756108single nucleotide variantNM_001242330.1(USP17L27):c.202C>T (p.Leu68Phe)not specified [RCV004338222]uncertain significance493443499344349Humanname
401866583CV2776252single nucleotide variantNM_001199161.2(USP19):c.3742C>A (p.Gln1248Lys)not specified [RCV004353620]uncertain significance34911056149110561Humanname
401909177CV2820841single nucleotide variantNM_001256873.1(USP17L1):c.797C>T (p.Thr266Met)not provided [RCV003423894]likely benign873331837333183Humanname
401909178CV2820842single nucleotide variantNM_001256873.1(USP17L1):c.905A>T (p.Asp302Val)not provided [RCV003423895]likely benign873332917333291Humanname
401925726CV2820904single nucleotide variantNM_001256869.2(USP17L7):c.380C>T (p.Thr127Ile)not provided [RCV003436746]likely benign81213363012133630Humanname
405814726CV3341654single nucleotide variantNM_001242330.1(USP17L27):c.101G>A (p.Arg34Gln)not specified [RCV004484540]uncertain significance493442489344248Humanname
405814730CV3341656single nucleotide variantNM_001242330.1(USP17L27):c.119A>T (p.Lys40Met)not specified [RCV004484542]uncertain significance493442669344266Humanname
405814745CV3341664single nucleotide variantNM_001242330.1(USP17L27):c.176C>G (p.Ala59Gly)not specified [RCV004484550]uncertain significance493443239344323Humanname
405814747CV3341665single nucleotide variantNM_001242330.1(USP17L27):c.194G>A (p.Arg65Lys)not specified [RCV004484551]uncertain significance493443419344341Humanname
405814749CV3341666single nucleotide variantNM_001242330.1(USP17L27):c.223C>T (p.Pro75Ser)not specified [RCV004484552]uncertain significance493443709344370Humanname
405814754CV3341669single nucleotide variantNM_001242330.1(USP17L27):c.254T>C (p.Met85Thr)not specified [RCV004484555]uncertain significance493444019344401Humanname
405814782CV3341684single nucleotide variantNM_001242329.1(USP17L5):c.769T>G (p.Cys257Gly)not specified [RCV004484570]uncertain significance493401719340171Humanname
405814784CV3341685single nucleotide variantNM_001242329.1(USP17L5):c.785C>T (p.Pro262Leu)not specified [RCV004484571]uncertain significance493401879340187Humanname
405663826CV3341705single nucleotide variantNM_001199161.2(USP19):c.3349G>T (p.Gly1117Cys)not specified [RCV004484591]uncertain significance34911114649111146Humanname
405663822CV3341706single nucleotide variantNM_001199161.2(USP19):c.3392G>A (p.Arg1131His)not specified [RCV004484592]uncertain significance34911110349111103Humanname
407451950CV3487432single nucleotide variantNM_001242330.1(USP17L27):c.142C>T (p.Arg48Cys)not specified [RCV004685444]uncertain significance493442899344289Humanname
407451953CV3487433single nucleotide variantNM_001242330.1(USP17L27):c.280T>G (p.Ser94Ala)not specified [RCV004685445]uncertain significance493444279344427Humanname
407455169CV3487453single nucleotide variantNM_001199161.2(USP19):c.3494A>T (p.Gln1165Leu)not specified [RCV004685463]uncertain significance34911100149111001Humanname
407462613CV3487456single nucleotide variantNM_001199161.2(USP19):c.3256A>G (p.Asn1086Asp)not specified [RCV004688020]uncertain significance34911132749111327Humanname
596948089CV3547684single nucleotide variantNM_001256863.1(USP17L22):c.1053T>C (p.Asp351=)not provided [RCV004811989]likely benign492686719268671Humanname
597798423CV3626168single nucleotide variantNM_001199161.2(USP19):c.3901G>A (p.Glu1301Lys)not specified [RCV004879188]uncertain significance34911032149110321Humanname
597798429CV3626174single nucleotide variantNM_001199161.2(USP19):c.3851G>C (p.Ser1284Thr)not specified [RCV004879191]uncertain significance34911045249110452Humanname
597798433CV3626180single nucleotide variantNM_001199161.2(USP19):c.3098G>C (p.Trp1033Ser)not specified [RCV004879193]uncertain significance34911161949111619Humanname
597798435CV3626182single nucleotide variantNM_001199161.2(USP19):c.3347T>C (p.Leu1116Pro)not specified [RCV004879194]uncertain significance34911114849111148Humanname
597722671CV3626184single nucleotide variantNM_001199161.2(USP19):c.4030G>A (p.Ala1344Thr)not specified [RCV004888045]uncertain significance34911019249110192Humanname
598275157CV3936477single nucleotide variantNM_001242330.1(USP17L27):c.268T>A (p.Tyr90Asn)not specified [RCV005304291]uncertain significance493444159344415Humanname
598275158CV3936480single nucleotide variantNM_001242330.1(USP17L27):c.202C>A (p.Leu68Ile)not specified [RCV005304292]uncertain significance493443499344349Humanname
598275159CV3936482single nucleotide variantNM_001242330.1(USP17L27):c.140C>T (p.Thr47Ile)not specified [RCV005304293]uncertain significance493442879344287Humanname
598275165CV3936492single nucleotide variantNM_001199161.2(USP19):c.3091C>T (p.Arg1031Trp)not specified [RCV005304299]uncertain significance34911162649111626Humanname
598203651CV3936496single nucleotide variantNM_001199161.2(USP19):c.3170T>C (p.Ile1057Thr)not specified [RCV005290569]likely benign34911154749111547Humanname
598275167CV3936498single nucleotide variantNM_001199161.2(USP19):c.3305G>A (p.Arg1102Gln)not specified [RCV005304301]uncertain significance34911127849111278Humanname
598275171CV3936504single nucleotide variantNM_001199161.2(USP19):c.3064A>G (p.Met1022Val)not specified [RCV005304305]likely benign34911165349111653Humanname
598203684CV3936508single nucleotide variantNM_001199161.2(USP19):c.3537G>T (p.Glu1179Asp)not specified [RCV005290574]uncertain significance34911095849110958Humanname
598203691CV3936510single nucleotide variantNM_001199161.2(USP19):c.3139A>G (p.Ile1047Val)not specified [RCV005290575]likely benign34911157849111578Humanname
156274258CV2202583single nucleotide variantNM_001242330.1(USP17L27):c.478G>T (p.Asp160Tyr)not specified [RCV004082846]uncertain significance493446259344625Humanname
156029301CV2205975single nucleotide variantNM_001242330.1(USP17L27):c.829A>T (p.Ile277Phe)not specified [RCV004078399]uncertain significance493449769344976Humanname
156021878CV2226912single nucleotide variantNM_001242330.1(USP17L27):c.302C>A (p.Thr101Lys)not specified [RCV004103883]uncertain significance493444499344449Humanname
156117650CV2231928single nucleotide variantNM_001242330.1(USP17L27):c.430C>G (p.Gln144Glu)not specified [RCV004093000]uncertain significance493445779344577Humanname
156332854CV2270395single nucleotide variantNM_001242330.1(USP17L27):c.696T>A (p.Ser232Arg)not specified [RCV004135588]uncertain significance493448439344843Humanname
156000357CV2287372single nucleotide variantNM_001242330.1(USP17L27):c.935C>T (p.Thr312Ile)not specified [RCV004146985]uncertain significance493450829345082Humanname
156362492CV2330215single nucleotide variantNM_001242330.1(USP17L27):c.575T>A (p.Leu192His)not specified [RCV004187674]uncertain significance493447229344722Humanname
156064176CV2331068single nucleotide variantNM_001242330.1(USP17L27):c.479A>G (p.Asp160Gly)not specified [RCV004188101]uncertain significance493446269344626Humanname
156178357CV2331309single nucleotide variantNM_001242330.1(USP17L27):c.482C>T (p.Ala161Val)not specified [RCV004183953]uncertain significance493446299344629Humanname
156204356CV2331658single nucleotide variantNM_001242330.1(USP17L27):c.355C>T (p.Arg119Cys)not specified [RCV004184288]uncertain significance493445029344502Humanname
156050337CV2336587single nucleotide variantNM_001242330.1(USP17L27):c.695G>C (p.Ser232Thr)not specified [RCV004196835]uncertain significance493448429344842Humanname
156347228CV2349545single nucleotide variantNM_001242330.1(USP17L27):c.522G>T (p.Lys174Asn)not specified [RCV004203977]uncertain significance493446699344669Humanname
156227403CV2352829single nucleotide variantNM_001242330.1(USP17L27):c.536G>C (p.Gly179Ala)not specified [RCV004198836]uncertain significance493446839344683Humanname
156345829CV2356384single nucleotide variantNM_001242330.1(USP17L27):c.677A>G (p.Asp226Gly)not specified [RCV004206187]uncertain significance493448249344824Humanname
156384847CV2371621single nucleotide variantNM_001242330.1(USP17L27):c.769T>G (p.Cys257Gly)not specified [RCV004216866]uncertain significance493449169344916Humanname
156388063CV2383577single nucleotide variantNM_001242330.1(USP17L27):c.779G>A (p.Arg260Lys)not specified [RCV004224446]likely benign493449269344926Humanname
329382124CV2424338single nucleotide variantNM_001242330.1(USP17L27):c.826C>G (p.Leu276Val)not specified [RCV004252243]uncertain significance493449739344973Humanname
329373322CV2447191single nucleotide variantNM_001242330.1(USP17L27):c.755A>T (p.Tyr252Phe)not specified [RCV004262494]uncertain significance493449029344902Humanname
329392074CV2470351single nucleotide variantNM_001242330.1(USP17L27):c.907A>T (p.Met303Leu)not specified [RCV004279738]uncertain significance493450549345054Humanname
401746506CV2694871single nucleotide variantNM_001242330.1(USP17L27):c.497T>C (p.Met166Thr)not specified [RCV004300942]uncertain significance493446449344644Humanname
401778947CV2701906single nucleotide variantNM_001242330.1(USP17L27):c.937G>A (p.Gly313Arg)not specified [RCV004320522]uncertain significance493450849345084Humanname
401734352CV2709467single nucleotide variantNM_001242330.1(USP17L27):c.863G>A (p.Gly288Asp)not specified [RCV004318714]uncertain significance493450109345010Humanname
401724985CV2715052single nucleotide variantNM_001242330.1(USP17L27):c.318C>A (p.Asn106Lys)not specified [RCV004322362]uncertain significance493444659344465Humanname
401756845CV2729527single nucleotide variantNM_001242330.1(USP17L27):c.535G>C (p.Gly179Arg)not specified [RCV004333602]uncertain significance493446829344682Humanname
401864416CV2760907single nucleotide variantNM_001242330.1(USP17L27):c.904G>A (p.Asp302Asn)not specified [RCV004336541]uncertain significance493450519345051Humanname
401872388CV2793083single nucleotide variantNM_001242330.1(USP17L27):c.434C>T (p.Pro145Leu)not specified [RCV004360408]uncertain significance493445819344581Humanname
401923872CV2820844single nucleotide variantNM_001256873.1(USP17L1):c.1308C>G (p.His436Gln)not provided [RCV003435421]likely benign873336947333694Humanname
401909180CV2820846single nucleotide variantNM_001256874.1(USP17L4):c.1303G>A (p.Asp435Asn)not provided [RCV003423896]likely benign873384177338417Humanname
405814756CV3341670single nucleotide variantNM_001242330.1(USP17L27):c.319T>G (p.Tyr107Asp)not specified [RCV004484556]uncertain significance493444669344466Humanname
405814758CV3341671single nucleotide variantNM_001242330.1(USP17L27):c.368G>A (p.Cys123Tyr)not specified [RCV004484557]uncertain significance493445159344515Humanname
405814760CV3341672single nucleotide variantNM_001242330.1(USP17L27):c.404C>A (p.Ala135Asp)not specified [RCV004484558]uncertain significance493445519344551Humanname
405814762CV3341673single nucleotide variantNM_001242330.1(USP17L27):c.431A>T (p.Gln144Leu)not specified [RCV004484559]uncertain significance493445789344578Humanname
405814765CV3341675single nucleotide variantNM_001242330.1(USP17L27):c.466G>T (p.Gly156Cys)not specified [RCV004484561]uncertain significance493446139344613Humanname
405814767CV3341676single nucleotide variantNM_001242330.1(USP17L27):c.474G>C (p.Gln158His)not specified [RCV004484562]uncertain significance493446219344621Humanname
405814769CV3341677single nucleotide variantNM_001242330.1(USP17L27):c.586A>G (p.Ile196Val)not specified [RCV004484563]uncertain significance493447339344733Humanname
405814771CV3341678single nucleotide variantNM_001242330.1(USP17L27):c.797C>T (p.Thr266Met)not specified [RCV004484564]uncertain significance493449449344944Humanname
405814775CV3341680single nucleotide variantNM_001242330.1(USP17L27):c.840G>T (p.Leu280Phe)not specified [RCV004484566]uncertain significance493449879344987Humanname
405814779CV3341682single nucleotide variantNM_001242330.1(USP17L27):c.993C>G (p.His331Gln)not specified [RCV004484568]uncertain significance493451409345140Humanname
407451947CV3487431single nucleotide variantNM_001242330.1(USP17L27):c.688G>T (p.Ala230Ser)not specified [RCV004685443]uncertain significance493448359344835Humanname
407451956CV3487434single nucleotide variantNM_001242330.1(USP17L27):c.558C>G (p.His186Gln)not specified [RCV004685446]uncertain significance493447059344705Humanname
597691247CV3626139single nucleotide variantNM_001242330.1(USP17L27):c.547G>C (p.Val183Leu)not specified [RCV004879174]uncertain significance493446949344694Humanname
597691238CV3626141single nucleotide variantNM_001242330.1(USP17L27):c.892C>A (p.Pro298Thr)not specified [RCV004879175]uncertain significance493450399345039Humanname
597691226CV3626142single nucleotide variantNM_001242330.1(USP17L27):c.634G>A (p.Gly212Ser)not specified [RCV004879176]uncertain significance493447819344781Humanname
597690815CV3626143single nucleotide variantNM_001242330.1(USP17L27):c.541A>C (p.Lys181Gln)not specified [RCV004888033]uncertain significance493446889344688Humanname
597691216CV3626144single nucleotide variantNM_001242330.1(USP17L27):c.485A>G (p.His162Arg)not specified [RCV004879177]uncertain significance493446329344632Humanname
597690825CV3626147single nucleotide variantNM_001242330.1(USP17L27):c.380C>T (p.Thr127Ile)not specified [RCV004888034]uncertain significance493445279344527Humanname
597691190CV3626149single nucleotide variantNM_001242330.1(USP17L27):c.757C>A (p.His253Asn)not specified [RCV004879180]uncertain significance493449049344904Humanname
597691180CV3626150single nucleotide variantNM_001242330.1(USP17L27):c.432G>C (p.Gln144His)not specified [RCV004879181]uncertain significance493445799344579Humanname
597690846CV3626153single nucleotide variantNM_001242330.1(USP17L27):c.853G>A (p.Asp285Asn)not specified [RCV004888036]uncertain significance493450009345000Humanname
598275155CV3936473single nucleotide variantNM_001242330.1(USP17L27):c.896A>C (p.Glu299Ala)not specified [RCV005304289]uncertain significance493450439345043Humanname
598203600CV3936479single nucleotide variantNM_001242330.1(USP17L27):c.421C>T (p.His141Tyr)not specified [RCV005290560]uncertain significance493445689344568Humanname
598203606CV3936481single nucleotide variantNM_001242330.1(USP17L27):c.892C>T (p.Pro298Ser)not specified [RCV005290561]uncertain significance493450399345039Humanname
598275160CV3936483single nucleotide variantNM_001242330.1(USP17L27):c.832C>G (p.Leu278Val)not specified [RCV005304294]uncertain significance493449799344979Humanname
156400016CV2198908single nucleotide variantNM_001242330.1(USP17L27):c.1273G>T (p.Val425Leu)not specified [RCV004078286]uncertain significance493454209345420Humanname
156377221CV2206998single nucleotide variantNM_001242330.1(USP17L27):c.1475C>T (p.Ser492Leu)not specified [RCV004085618]uncertain significance493456229345622Humanname
156143488CV2296304single nucleotide variantNM_001242330.1(USP17L27):c.1417T>G (p.Cys473Gly)not specified [RCV004154203]uncertain significance493455649345564Humanname
156203119CV2300700single nucleotide variantNM_001242330.1(USP17L27):c.1246C>A (p.Gln416Lys)not specified [RCV004155640]uncertain significance493453939345393Humanname
156161869CV2311772single nucleotide variantNM_001242330.1(USP17L27):c.1228A>G (p.Arg410Gly)not specified [RCV004170632]uncertain significance493453759345375Humanname
156181989CV2327864single nucleotide variantNM_001242330.1(USP17L27):c.1267C>T (p.His423Tyr)not specified [RCV004179194]uncertain significance493454149345414Humanname
156346283CV2353494single nucleotide variantNM_001242330.1(USP17L27):c.1357A>G (p.Arg453Gly)not specified [RCV004199480]uncertain significance493455049345504Humanname
155928682CV2369544single nucleotide variantNM_001242330.1(USP17L27):c.1211C>T (p.Thr404Met)not specified [RCV004214965]uncertain significance493453589345358Humanname
156173861CV2377132single nucleotide variantNM_001242330.1(USP17L27):c.1533G>C (p.Arg511Ser)not specified [RCV004231810]uncertain significance493456809345680Humanname
329383483CV2425001single nucleotide variantNM_001242330.1(USP17L27):c.1241G>T (p.Cys414Phe)not specified [RCV004250660]uncertain significance493453889345388Humanname
329366807CV2441901single nucleotide variantNM_001242330.1(USP17L27):c.1516G>A (p.Ala506Thr)not specified [RCV004262084]uncertain significance493456639345663Humanname
329368541CV2450355single nucleotide variantNM_001242330.1(USP17L27):c.1262A>G (p.Asp421Gly)not specified [RCV004271431]uncertain significance493454099345409Humanname
329395687CV2454465single nucleotide variantNM_001242330.1(USP17L27):c.1508G>A (p.Gly503Asp)not specified [RCV004267967]uncertain significance493456559345655Humanname
329399027CV2471857single nucleotide variantNM_001242330.1(USP17L27):c.1373C>A (p.Thr458Asn)not specified [RCV004280890]uncertain significance493455209345520Humanname
329376565CV2472192single nucleotide variantNM_001242330.1(USP17L27):c.1451G>T (p.Ser484Ile)not specified [RCV004283312]uncertain significance493455989345598Humanname
401724284CV2714783single nucleotide variantNM_001242330.1(USP17L27):c.1015G>A (p.Val339Ile)not specified [RCV004320345]uncertain significance493451629345162Humanname
405814728CV3341655single nucleotide variantNM_001242330.1(USP17L27):c.1087C>A (p.Leu363Met)not specified [RCV004484541]uncertain significance493452349345234Humanname
405814736CV3341659single nucleotide variantNM_001242330.1(USP17L27):c.1250C>A (p.Ala417Asp)not specified [RCV004484545]uncertain significance493453979345397Humanname
405814738CV3341660single nucleotide variantNM_001242330.1(USP17L27):c.1318C>T (p.Leu440Phe)not specified [RCV004484546]uncertain significance493454659345465Humanname
405814741CV3341662single nucleotide variantNM_001242330.1(USP17L27):c.1481C>A (p.Pro494Gln)not specified [RCV004484548]uncertain significance493456289345628Humanname
405814743CV3341663single nucleotide variantNM_001242330.1(USP17L27):c.1549G>A (p.Gly517Arg)not specified [RCV004484549]uncertain significance493456969345696Humanname
597691268CV3626135single nucleotide variantNM_001242330.1(USP17L27):c.1006T>C (p.Phe336Leu)not specified [RCV004879172]uncertain significance493451539345153Humanname
597691258CV3626138single nucleotide variantNM_001242330.1(USP17L27):c.1353C>A (p.Asn451Lys)not specified [RCV004879173]uncertain significance493455009345500Humanname
597690805CV3626140single nucleotide variantNM_001242330.1(USP17L27):c.1478C>T (p.Thr493Ile)not specified [RCV004888032]uncertain significance493456259345625Humanname
597691205CV3626145single nucleotide variantNM_001242330.1(USP17L27):c.1300T>G (p.Leu434Val)not specified [RCV004879178]uncertain significance493454479345447Humanname
597691200CV3626148single nucleotide variantNM_001242330.1(USP17L27):c.1295G>C (p.Ser432Thr)not specified [RCV004879179]uncertain significance493454429345442Humanname
597690835CV3626151single nucleotide variantNM_001242330.1(USP17L27):c.1087C>G (p.Leu363Val)not specified [RCV004888035]uncertain significance493452349345234Humanname
597691171CV3626152single nucleotide variantNM_001242330.1(USP17L27):c.1471T>A (p.Ser491Thr)not specified [RCV004879182]uncertain significance493456189345618Humanname
597691153CV3626155single nucleotide variantNM_001242330.1(USP17L27):c.1528G>T (p.Gly510Trp)not specified [RCV004879184]uncertain significance493456759345675Humanname
597691143CV3626157single nucleotide variantNM_001242330.1(USP17L27):c.1397T>C (p.Ile466Thr)not specified [RCV004879186]uncertain significance493455449345544Humanname
598203594CV3936478single nucleotide variantNM_001242330.1(USP17L27):c.1236C>A (p.His412Gln)not specified [RCV005290559]uncertain significance493453839345383Humanname