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Variants search result for All species
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498 records found for search term Xk
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8561126CV24805deletionXK, 1-BP DELMcLeod neuroacanthocytosis syndrome [RCV000010420]pathogenicHuman1name
150450391CV1272381single nucleotide variantNM_021083.4(XK):c.*89A>Tnot provided [RCV001691862]benignX3772855137728551Humanname
150520618CV1290523single nucleotide variantNM_021083.4(XK):c.508+5G>AMcLeod neuroacanthocytosis syndrome [RCV001731241]pathogenic|not providedX3769455337694553Human1name
8561124CV24803single nucleotide variantNM_021083.4(XK):c.508+1G>AMcLeod neuroacanthocytosis syndrome [RCV000010418]pathogenicX3769454937694549Human1name
8561125CV24804single nucleotide variantNM_021083.4(XK):c.509-1G>AMcLeod neuroacanthocytosis syndrome [RCV000010419]pathogenicX3772763537727635Human1name
405055047CV3138530single nucleotide variantNM_021083.4(XK):c.246-8G>Cnot provided [RCV003832374]likely benignX3769427837694278Humanname
8587440CV122068single nucleotide variantNM_021083.2(XK):c.245+750A>TLung cancer [RCV000102588]uncertain significanceX3768695637686956Humanname
152054615CV1573695single nucleotide variantNM_021083.4(XK):c.57G>C (p.Thr19=)not provided [RCV002207926]benignX3768601837686018Humanname
156082657CV1909042single nucleotide variantNM_021083.4(XK):c.228A>G (p.Gln76=)not provided [RCV002591631]likely benignX3768618937686189Humanname
155916555CV2156125single nucleotide variantNM_021083.4(XK):c.204C>T (p.Leu68=)not provided [RCV002991688]likely benignX3768616537686165Humanname
402466370CV3173639single nucleotide variantNM_021083.4(XK):c.297T>A (p.Pro99=)not provided [RCV003873113]likely benignX3769433737694337Humanname
408367085CV3512304single nucleotide variantNM_021083.4(XK):c.210G>C (p.Leu70=)XK-related disorder [RCV004757783]likely benignX3768617137686171Humanname , trait , alternate_id
15115969CV684990single nucleotide variantNM_021083.4(XK):c.150C>T (p.Leu50=)not provided [RCV000860843]benignX3768611137686111Humanname
156412899CV1887006single nucleotide variantNM_021083.4(XK):c.71T>A (p.Leu24Gln)not provided [RCV003073077]uncertain significanceX3768603237686032Humanname
156234814CV1982377single nucleotide variantNM_021083.4(XK):c.732C>T (p.Asn244=)not provided [RCV002626929]likely benignX3772785937727859Humanname
156378832CV2001412single nucleotide variantNM_021083.4(XK):c.417G>A (p.Ala139=)not provided [RCV002653511]benignX3769445737694457Humanname
155956522CV2162733single nucleotide variantNM_021083.4(XK):c.657T>C (p.Ile219=)not provided [RCV003015130]likely benignX3772778437727784Humanname
243062096CV2414302single nucleotide variantNM_021083.4(XK):c.85C>G (p.Arg29Gly)McLeod neuroacanthocytosis syndrome [RCV003139371]uncertain significanceX3768604637686046Human1name
405138961CV3048678single nucleotide variantNM_021083.4(XK):c.405G>A (p.Ala135=)not provided [RCV003725410]likely benignX3769444537694445Humanname
405139329CV3048694single nucleotide variantNM_021083.4(XK):c.765C>G (p.Leu255=)not provided [RCV003725418]benignX3772789237727892Humanname
405031441CV3077415single nucleotide variantNM_021083.4(XK):c.420G>A (p.Ser140=)Inborn genetic diseases [RCV005311059]|not provided [RCV003739107]benign|likely benignX3769446037694460Human1name
405227094CV3142837single nucleotide variantNM_021083.4(XK):c.705C>A (p.Thr235=)not provided [RCV003848179]likely benignX3772783237727832Humanname
405166905CV3153656single nucleotide variantNM_021083.4(XK):c.303C>T (p.Val101=)not provided [RCV003841201]likely benignX3769434337694343Humanname
597873453CV3805314single nucleotide variantNM_021083.4(XK):c.933C>T (p.Ser311=)not provided [RCV005148592]likely benignX3772806037728060Humanname
15137050CV758470single nucleotide variantNM_021083.4(XK):c.417G>T (p.Ala139=)not provided [RCV000921105]likely benignX3769445737694457Humanname
15151200CV758471single nucleotide variantNM_021083.4(XK):c.450C>G (p.Pro150=)not provided [RCV000923625]likely benignX3769449037694490Humanname
15119992CV758472single nucleotide variantNM_021083.4(XK):c.492C>T (p.Asp164=)not provided [RCV000918238]benignX3769453237694532Humanname
15169087CV758473single nucleotide variantNM_021083.4(XK):c.765C>T (p.Leu255=)not provided [RCV000927427]likely benignX3772789237727892Humanname
155691895CV1778049single nucleotide variantNM_021083.4(XK):c.176A>G (p.His59Arg)not provided [RCV002299353]uncertain significanceX3768613737686137Humanname
156272629CV2018485single nucleotide variantNM_021083.4(XK):c.205G>T (p.Val69Leu)not provided [RCV002715034]uncertain significanceX3768616637686166Humanname
156042852CV2094207single nucleotide variantNM_021083.4(XK):c.1332T>C (p.Ala444=)not provided [RCV002885879]benignX3772845937728459Humanname
156036272CV2150213single nucleotide variantNM_021083.4(XK):c.171C>G (p.Phe57Leu)not provided [RCV003018885]uncertain significanceX3768613237686132Humanname
156148827CV2154312single nucleotide variantNM_021083.4(XK):c.1215T>C (p.Cys405=)not provided [RCV003022780]likely benignX3772834237728342Humanname
156196281CV2157189single nucleotide variantNM_021083.4(XK):c.108G>T (p.Trp36Cys)not provided [RCV003006170]|not specified [RCV004526217]uncertain significanceX3768606937686069Humanname
243062095CV2414301single nucleotide variantNM_021083.4(XK):c.100C>G (p.Arg34Gly)McLeod neuroacanthocytosis syndrome [RCV003139370]uncertain significanceX3768606137686061Human1name
243062097CV2414303single nucleotide variantNM_021083.4(XK):c.200C>T (p.Pro67Leu)McLeod neuroacanthocytosis syndrome [RCV003139372]uncertain significanceX3768616137686161Human1name
405168792CV2854089single nucleotide variantNM_021083.4(XK):c.243C>G (p.Phe81Leu)not provided [RCV003541999]uncertain significanceX3768620437686204Humanname
405253949CV3045151single nucleotide variantNM_021083.4(XK):c.1308G>A (p.Leu436=)not provided [RCV003722773]benignX3772843537728435Humanname
405273704CV3198169single nucleotide variantNM_021083.4(XK):c.274C>T (p.Gln92Ter)XK-related disorder [RCV003901938]|not provided [RCV005101601]pathogenic|likely pathogenicX3769431437694314Human1name , trait , alternate_id
405666098CV3349475single nucleotide variantNM_021083.4(XK):c.105G>A (p.Met35Ile)Inborn genetic diseases [RCV004485502]uncertain significanceX3768606637686066Human1name
405666105CV3349476single nucleotide variantNM_021083.4(XK):c.177C>G (p.His59Gln)Inborn genetic diseases [RCV004485503]uncertain significanceX3768613837686138Human1name
598182920CV3933631single nucleotide variantNM_021083.4(XK):c.172G>A (p.Val58Ile)Inborn genetic diseases [RCV005311317]uncertain significanceX3768613337686133Human1name
15117849CV684992single nucleotide variantNM_021083.4(XK):c.1221G>A (p.Pro407=)not provided [RCV000861202]benign|likely benignX3772834837728348Humanname
126924270CV1052432single nucleotide variantNM_021083.4(XK):c.554T>C (p.Leu185Ser)McLeod neuroacanthocytosis syndrome [RCV002499746]|not provided [RCV001366839]uncertain significanceX3772768137727681Human1name
150520601CV1289620single nucleotide variantNM_021083.4(XK):c.664C>T (p.Arg222Ter)McLeod neuroacanthocytosis syndrome [RCV001730037]|not provided [RCV003326586]pathogenic|likely pathogenicX3772779137727791Human1name
150520619CV1290524single nucleotide variantNM_021083.4(XK):c.664C>G (p.Arg222Gly)McLeod neuroacanthocytosis syndrome [RCV001731242]|not provided [RCV002539802]pathogenic|uncertain significance|not providedX3772779137727791Human1name
150520620CV1290525single nucleotide variantNM_021083.4(XK):c.979G>A (p.Glu327Lys)McLeod neuroacanthocytosis syndrome [RCV001731243]pathogenic|not providedX3772810637728106Human1name
150548834CV1293926single nucleotide variantNM_021083.4(XK):c.343T>C (p.Ser115Pro)not provided [RCV001764765]uncertain significanceX3769438337694383Humanname
151860183CV1389801single nucleotide variantNM_021083.4(XK):c.731A>G (p.Asn244Ser)not provided [RCV001905175]uncertain significanceX3772785837727858Humanname
156345361CV2172547single nucleotide variantNM_021083.4(XK):c.723A>G (p.Ile241Met)not provided [RCV003030529]uncertain significanceX3772785037727850Humanname
155975375CV2270067single nucleotide variantNM_021083.4(XK):c.353T>C (p.Ile118Thr)Inborn genetic diseases [RCV002818088]uncertain significanceX3769439337694393Human1name
155915459CV2274198single nucleotide variantNM_021083.4(XK):c.800T>C (p.Ile267Thr)Inborn genetic diseases [RCV002858888]uncertain significanceX3772792737727927Human1name
156434994CV2403269single nucleotide variantNM_021083.4(XK):c.771G>A (p.Trp257Ter)Elevated circulating creatine kinase concentration [RCV003127219]likely pathogenicX3772789837727898Human2name
243062098CV2414304single nucleotide variantNM_021083.4(XK):c.335A>G (p.Asn112Ser)McLeod neuroacanthocytosis syndrome [RCV003139373]uncertain significanceX3769437537694375Human1name
243062099CV2414305single nucleotide variantNM_021083.4(XK):c.794A>G (p.Glu265Gly)Inborn genetic diseases [RCV004676183]|McLeod neuroacanthocytosis syndrome [RCV003139374]uncertain significanceX3772792137727921Human2name
243062100CV2414306single nucleotide variantNM_021083.4(XK):c.404C>T (p.Ala135Val)McLeod neuroacanthocytosis syndrome [RCV003139375]uncertain significanceX3769444437694444Human1name
8561127CV24806deletionNM_021083.4(XK):c.1013del (p.Phe338fs)McLeod neuroacanthocytosis syndrome [RCV000010421]pathogenicX3772813737728137Human1name
8561128CV24807single nucleotide variantNM_021083.4(XK):c.880T>C (p.Cys294Arg)McLeod neuroacanthocytosis syndrome [RCV000010422]pathogenicX3772800737728007Human1name
8561130CV24809single nucleotide variantNM_021083.4(XK):c.941G>A (p.Trp314Ter)McLeod neuroacanthocytosis syndrome [RCV000010424]pathogenicX3772806837728068Human1name
8561131CV24810single nucleotide variantNM_021083.4(XK):c.895C>T (p.Gln299Ter)McLeod neuroacanthocytosis syndrome [RCV000010425]pathogenicX3772802237728022Human1name
405117818CV2953426single nucleotide variantNM_021083.4(XK):c.613C>T (p.Pro205Ser)not provided [RCV003667038]uncertain significanceX3772774037727740Humanname
407465612CV3488188single nucleotide variantNM_021083.4(XK):c.671T>C (p.Val224Ala)Inborn genetic diseases [RCV004688815]uncertain significanceX3772779837727798Human1name
407465616CV3488189single nucleotide variantNM_021083.4(XK):c.874A>T (p.Met292Leu)Inborn genetic diseases [RCV004688816]uncertain significanceX3772800137728001Human1name
407574427CV3499438single nucleotide variantNM_021083.4(XK):c.397C>T (p.Arg133Ter)not provided [RCV004719432]pathogenicX3769443737694437Humanname
596929682CV3531103single nucleotide variantNM_021083.4(XK):c.962A>G (p.Tyr321Cys)not provided [RCV004779677]uncertain significanceX3772808937728089Humanname
596928074CV3532795single nucleotide variantNM_021083.4(XK):c.662C>T (p.Thr221Ile)not provided [RCV004778893]uncertain significanceX3772778937727789Humanname
597631162CV3634161single nucleotide variantNM_021083.4(XK):c.651T>G (p.Phe217Leu)Inborn genetic diseases [RCV004967550]uncertain significanceX3772777837727778Human1name
597889991CV3824191single nucleotide variantNM_021083.4(XK):c.521C>T (p.Thr174Ile)not provided [RCV005165414]uncertain significanceX3772764837727648Humanname
598128429CV3887634single nucleotide variantNM_021083.4(XK):c.413G>A (p.Arg138Gln)not provided [RCV005243807]uncertain significanceX3769445337694453Humanname
15139994CV786815single nucleotide variantNM_021083.4(XK):c.617T>C (p.Leu206Pro)not provided [RCV000982740]benignX3772774437727744Humanname
38456159CV959283single nucleotide variantNM_021083.4(XK):c.412C>T (p.Arg138Trp)Inborn genetic diseases [RCV004963296]|not provided [RCV001245691]uncertain significanceX3769445237694452Human1name
156385658CV1874887single nucleotide variantNM_021083.4(XK):c.1019C>A (p.Thr340Asn)not provided [RCV003050835]likely benignX3772814637728146Humanname
156414457CV1912323single nucleotide variantNM_021083.4(XK):c.1243T>G (p.Ser415Ala)Inborn genetic diseases [RCV002588623]|not provided [RCV002588622]uncertain significanceX3772837037728370Human1name
156263342CV2201161single nucleotide variantNM_021083.4(XK):c.1099C>T (p.Leu367Phe)Inborn genetic diseases [RCV002669091]uncertain significanceX3772822637728226Human1name
243062101CV2414307single nucleotide variantNM_021083.4(XK):c.1220C>T (p.Pro407Leu)McLeod neuroacanthocytosis syndrome [RCV003139376]uncertain significanceX3772834737728347Human1name
401926709CV2821476single nucleotide variantNM_021083.4(XK):c.1007A>G (p.Tyr336Cys)not provided [RCV003438060]uncertain significanceX3772813437728134Humanname
405123893CV3021088single nucleotide variantNM_021083.4(XK):c.1190G>A (p.Trp397Ter)not provided [RCV003701046]uncertain significanceX3772831737728317Humanname
597631165CV3634162single nucleotide variantNM_021083.4(XK):c.1265C>T (p.Thr422Ile)Inborn genetic diseases [RCV004967551]uncertain significanceX3772839237728392Human1name
597631166CV3634163single nucleotide variantNM_021083.4(XK):c.1321C>T (p.Leu441Phe)Inborn genetic diseases [RCV004967552]uncertain significanceX3772844837728448Human1name
597841057CV3775737single nucleotide variantNM_021083.4(XK):c.1103T>C (p.Val368Ala)not provided [RCV005115452]uncertain significanceX3772823037728230Humanname
598275740CV3933629single nucleotide variantNM_021083.4(XK):c.1135C>T (p.Leu379Phe)Inborn genetic diseases [RCV005304874]uncertain significanceX3772826237728262Human1name
598182924CV3933632single nucleotide variantNM_021083.4(XK):c.1081A>G (p.Thr361Ala)Inborn genetic diseases [RCV005311318]uncertain significanceX3772820837728208Human1name
617151992CV4018226single nucleotide variantNM_021083.4(XK):c.1070T>C (p.Ile357Thr)not specified [RCV005418486]uncertain significanceX3772819737728197Humanname
13530939CV512653single nucleotide variantNM_021083.4(XK):c.1015A>T (p.Lys339Ter)Inborn genetic diseases [RCV000622910]pathogenic|likely pathogenicX3772814237728142Human1name
15119604CV684991single nucleotide variantNM_021083.4(XK):c.1108T>G (p.Tyr370Asp)not provided [RCV000861539]benignX3772823537728235Humanname
8561129CV24808deletionNM_021083.4(XK):c.938_951del (p.Asn313fs)McLeod neuroacanthocytosis syndrome [RCV000010423]pathogenicX3772806337728076Human1name
401725155CV2672372deletionNM_021083.4(XK):c.856_860del (p.Leu286fs)not provided [RCV003239273]pathogenicX3772798137727985Humanname
598123933CV3885130indelNM_021083.4(XK):c.941_942delinsTC (p.Trp314Phe)not specified [RCV005238742]uncertain significanceX3772806837728069Humanname
8650587CV127162single nucleotide variantNM_001011720.1(XKR9):c.*99T>ALung cancer [RCV000107649]uncertain significance87073452370734523Humanname
8650433CV127008single nucleotide variantNM_052898.1(XKR4):c.806+27664G>CLung cancer [RCV000107495]uncertain significance85513095855130958Humanname
8650434CV127009single nucleotide variantNM_052898.1(XKR4):c.806+71332G>CLung cancer [RCV000107496]uncertain significance85517462655174626Humanname
8650435CV127010single nucleotide variantNM_052898.1(XKR4):c.807-16449G>ALung cancer [RCV000107497]uncertain significance85534122955341229Humanname
8649721CV126295single nucleotide variantNM_173683.3(XKR6):c.765-112027G>ALung cancer [RCV000106782]uncertain significance81103685711036857Humanname
8649724CV126298single nucleotide variantNM_173683.3(XKR6):c.765-133135G>CLung cancer [RCV000106785]uncertain significance81105796511057965Humanname
8649725CV126299single nucleotide variantNM_173683.3(XKR6):c.765-133614G>TLung cancer [RCV000106786]uncertain significance81105844411058444Humanname
8650437CV127012single nucleotide variantNM_052898.1(XKR4):c.1007-75840A>GLung cancer [RCV000107499]uncertain significance85544744155447441Humanname
8650438CV127013single nucleotide variantNM_052898.1(XKR4):c.1007-55679T>ALung cancer [RCV000107500]uncertain significance85546760255467602Humanname
407455891CV3488198single nucleotide variantNM_207411.5(XKR5):c.7G>A (p.Ala3Thr)not specified [RCV004685739]uncertain significance868354876835487Humanname
8637559CV92785single nucleotide variantNM_175878.3(XKR3):c.57G>A (p.Ser19=)Malignant melanoma [RCV000072883]not provided221680801716808017Humanname
401877950CV2757715single nucleotide variantNM_212559.3(XKRX):c.26A>C (p.Glu9Ala)not specified [RCV004336868]uncertain significanceX100928279100928279Humanname
401921148CV2826638single nucleotide variantNM_212559.3(XKRX):c.288A>G (p.Lys96=)not provided [RCV003432225]likely benignX100928017100928017Humanname
407455888CV3488197single nucleotide variantNM_207411.5(XKR5):c.26C>T (p.Ser9Leu)not specified [RCV004685738]uncertain significance868354686835468Humanname
408367622CV3510369single nucleotide variantNM_018053.4(XKR8):c.86C>T (p.Thr29Ile)XKR8-related condition [RCV004759041]likely benign12796015527960155Humanname , trait
597804548CV3634179single nucleotide variantNM_052898.2(XKR4):c.13T>C (p.Ser5Pro)not specified [RCV004882310]uncertain significance85510250155102501Humanname
597804633CV3634238single nucleotide variantNM_212559.3(XKRX):c.22C>T (p.Pro8Ser)not specified [RCV004882352]uncertain significanceX100928283100928283Humanname
598275752CV3933655single nucleotide variantNM_207411.5(XKR5):c.22C>A (p.Leu8Ile)not specified [RCV005304886]uncertain significance868354726835472Humanname
329400683CV2438653single nucleotide variantNM_212559.3(XKRX):c.64G>A (p.Asp22Asn)not specified [RCV004261816]uncertain significanceX100928241100928241Humanname
329395400CV2458329single nucleotide variantNM_173683.4(XKR6):c.89A>G (p.Glu30Gly)not specified [RCV004265972]uncertain significance81120125111201251Humanname
329394022CV2472274single nucleotide variantNM_207411.5(XKR5):c.56C>A (p.Ala19Glu)not specified [RCV004283379]uncertain significance868354386835438Humanname
401743093CV2694053single nucleotide variantNM_173683.4(XKR6):c.85G>C (p.Glu29Gln)not specified [RCV004302490]uncertain significance81120125511201255Humanname
401730829CV2711518single nucleotide variantNM_207411.5(XKR5):c.29C>T (p.Ala10Val)not specified [RCV004306833]uncertain significance868354656835465Humanname
401757750CV2731425single nucleotide variantNM_212559.3(XKRX):c.89G>A (p.Arg30Gln)not specified [RCV004330786]uncertain significanceX100928216100928216Humanname
401860909CV2772293single nucleotide variantNM_207411.5(XKR5):c.65A>T (p.Tyr22Phe)not specified [RCV004353314]uncertain significance868328946832894Humanname
401921147CV2826637single nucleotide variantNM_212559.3(XKRX):c.765C>G (p.Leu255=)not provided [RCV003432224]likely benignX100914923100914923Humanname
405666255CV3349507single nucleotide variantNM_207411.5(XKR5):c.70G>A (p.Val24Met)not specified [RCV004485534]uncertain significance868328896832889Humanname
407455902CV3488202single nucleotide variantNM_207411.5(XKR5):c.51G>T (p.Gln17His)not specified [RCV004685743]uncertain significance868354436835443Humanname
407455946CV3488219single nucleotide variantNM_018053.4(XKR8):c.64G>T (p.Ala22Ser)not specified [RCV004685759]uncertain significance12796013327960133Humanname
597804559CV3634186single nucleotide variantNM_207411.5(XKR5):c.44C>A (p.Ala15Asp)not specified [RCV004882316]uncertain significance868354506835450Humanname
597804631CV3634234single nucleotide variantNM_212559.3(XKRX):c.56T>C (p.Leu19Pro)not specified [RCV004882351]uncertain significanceX100928249100928249Humanname
597751464CV3634236single nucleotide variantNM_212559.3(XKRX):c.70A>G (p.Ile24Val)not specified [RCV004892783]uncertain significanceX100928235100928235Humanname
597804635CV3634239single nucleotide variantNM_212559.3(XKRX):c.88C>G (p.Arg30Gly)not specified [RCV004882353]uncertain significanceX100928217100928217Humanname
598275759CV3933663single nucleotide variantNM_173683.4(XKR6):c.95G>T (p.Gly32Val)not specified [RCV005304893]uncertain significance81120124511201245Humanname
598183051CV3933682single nucleotide variantNM_018053.4(XKR8):c.85A>G (p.Thr29Ala)not specified [RCV005311339]likely benign12796015427960154Humanname
598183077CV3933695single nucleotide variantNM_212559.3(XKRX):c.73C>T (p.Arg25Cys)not specified [RCV005311343]uncertain significanceX100928232100928232Humanname
8633058CV88272single nucleotide variantNM_207411.4(XKR5):c.68C>T (p.Thr23Ile)Malignant melanoma [RCV000068364]not provided868328916832891Humanname
156234973CV2193354single nucleotide variantNM_173683.4(XKR6):c.229C>T (p.Leu77Phe)not specified [RCV004072858]uncertain significance81120111111201111Humanname
156398577CV2194654single nucleotide variantNM_173683.4(XKR6):c.247C>A (p.Arg83Ser)not specified [RCV004082057]uncertain significance81120109311201093Humanname
156367266CV2266762single nucleotide variantNM_207411.5(XKR5):c.184C>A (p.His62Asn)not specified [RCV004137588]uncertain significance868327756832775Humanname
156268216CV2296797single nucleotide variantNM_207411.5(XKR5):c.229G>C (p.Gly77Arg)not specified [RCV004148692]uncertain significance868327306832730Humanname
156279127CV2325204single nucleotide variantNM_207411.5(XKR5):c.136G>A (p.Gly46Arg)not specified [RCV004177616]uncertain significance868328236832823Humanname
155906729CV2379115single nucleotide variantNM_207411.5(XKR5):c.248G>T (p.Trp83Leu)not specified [RCV004235912]uncertain significance868253446825344Humanname
156060656CV2391905single nucleotide variantNM_052898.2(XKR4):c.229T>G (p.Ser77Ala)not specified [RCV004235772]uncertain significance85510271755102717Humanname
329366363CV2445682single nucleotide variantNM_173683.4(XKR6):c.115T>G (p.Cys39Gly)not specified [RCV004259757]uncertain significance81120122511201225Humanname
401740146CV2684278single nucleotide variantNM_207411.5(XKR5):c.286G>T (p.Ala96Ser)not specified [RCV004288935]uncertain significance868253066825306Humanname
401756975CV2692735single nucleotide variantNM_052898.2(XKR4):c.167C>G (p.Pro56Arg)not specified [RCV004306282]uncertain significance85510265555102655Humanname
401756978CV2692739single nucleotide variantNM_173683.4(XKR6):c.239G>A (p.Arg80Lys)not specified [RCV004306286]likely benign81120110111201101Humanname
401745863CV2693365single nucleotide variantNM_018053.4(XKR8):c.176C>G (p.Ala59Gly)not specified [RCV004295325]uncertain significance12796024527960245Humanname
401764554CV2705087single nucleotide variantNM_207411.5(XKR5):c.253G>A (p.Ala85Thr)not specified [RCV004309997]uncertain significance868253396825339Humanname
401737966CV2714272single nucleotide variantNM_207411.5(XKR5):c.166T>C (p.Trp56Arg)not specified [RCV004315958]uncertain significance868327936832793Humanname
401781608CV2722183single nucleotide variantNM_207411.5(XKR5):c.124G>A (p.Val42Ile)not specified [RCV004328751]uncertain significance868328356832835Humanname
401781526CV2731654single nucleotide variantNM_018053.4(XKR8):c.267T>G (p.His89Gln)not specified [RCV004331759]uncertain significance12796033627960336Humanname
401893986CV2770188single nucleotide variantNM_018053.4(XKR8):c.172G>T (p.Val58Leu)not specified [RCV004356082]uncertain significance12796024127960241Humanname
401871814CV2779411single nucleotide variantNM_207411.5(XKR5):c.159C>G (p.Ser53Arg)not specified [RCV004351054]uncertain significance868328006832800Humanname
401909174CV2820838single nucleotide variantNM_207411.5(XKR5):c.1149C>T (p.Val383=)not provided [RCV003423892]likely benign868121106812110Humanname
401921145CV2826636single nucleotide variantNM_212559.3(XKRX):c.1107C>T (p.Phe369=)not provided [RCV003432223]likely benignX100914581100914581Humanname
405666193CV3349493single nucleotide variantNM_207411.5(XKR5):c.118C>A (p.Leu40Ile)not specified [RCV004485520]uncertain significance868328416832841Humanname
405666201CV3349495single nucleotide variantNM_207411.5(XKR5):c.145G>A (p.Val49Ile)not specified [RCV004485522]uncertain significance868328146832814Humanname
405666267CV3349510single nucleotide variantNM_173683.4(XKR6):c.103G>C (p.Gly35Arg)not specified [RCV004485537]uncertain significance81120123711201237Humanname
405666314CV3349519single nucleotide variantNM_173683.4(XKR6):c.220C>G (p.Leu74Val)not specified [RCV004485546]uncertain significance81120112011201120Humanname
405666319CV3349520single nucleotide variantNM_173683.4(XKR6):c.268G>A (p.Gly90Arg)not specified [RCV004485547]uncertain significance81120107211201072Humanname
405666465CV3349550single nucleotide variantNM_212559.3(XKRX):c.171C>G (p.Ile57Met)not specified [RCV004485577]uncertain significanceX100928134100928134Humanname
407455884CV3488196single nucleotide variantNM_207411.5(XKR5):c.257C>T (p.Ala86Val)not specified [RCV004685737]likely benign868253356825335Humanname
407455917CV3488207single nucleotide variantNM_173683.4(XKR6):c.295G>C (p.Ala99Pro)not specified [RCV004685748]uncertain significance81120104511201045Humanname
407455938CV3488215single nucleotide variantNM_018053.4(XKR8):c.244C>T (p.Arg82Cys)XKR8-related condition [RCV004758958]|not specified [RCV004685756]uncertain significance12796031327960313Humanname , trait
407465622CV3488216single nucleotide variantNM_018053.4(XKR8):c.242C>T (p.Pro81Leu)not specified [RCV004688818]uncertain significance12796031127960311Humanname
407455944CV3488218single nucleotide variantNM_018053.4(XKR8):c.191G>C (p.Ser64Thr)not specified [RCV004685758]uncertain significance12796026027960260Humanname
597804554CV3634182single nucleotide variantNM_052898.2(XKR4):c.128G>C (p.Gly43Ala)not specified [RCV004882313]uncertain significance85510261655102616Humanname
597804556CV3634183single nucleotide variantNM_207411.5(XKR5):c.160T>C (p.Tyr54His)not specified [RCV004882314]uncertain significance868327996832799Humanname
597804567CV3634190single nucleotide variantNM_207411.5(XKR5):c.188C>G (p.Pro63Arg)not specified [RCV004882320]uncertain significance868327716832771Humanname
597804569CV3634191single nucleotide variantNM_207411.5(XKR5):c.100C>A (p.Leu34Met)not specified [RCV004882321]uncertain significance868328596832859Humanname
597804580CV3634196single nucleotide variantNM_173683.4(XKR6):c.268G>C (p.Gly90Arg)not specified [RCV004882326]uncertain significance81120107211201072Humanname
597751406CV3634200single nucleotide variantNM_173683.4(XKR6):c.1353C>T (p.Thr451=)not specified [RCV004892772]likely benign81089852510898525Humanname
597804605CV3634218single nucleotide variantNM_018053.4(XKR8):c.145G>C (p.Val49Leu)not specified [RCV004882338]uncertain significance12796021427960214Humanname
597751454CV3634223single nucleotide variantNM_018053.4(XKR8):c.115C>T (p.Leu39Phe)not specified [RCV004892781]uncertain significance12796018427960184Humanname
597804615CV3634226single nucleotide variantNM_018053.4(XKR8):c.226C>T (p.His76Tyr)not specified [RCV004882343]uncertain significance12796029527960295Humanname
598182943CV3933642single nucleotide variantNM_052898.2(XKR4):c.139G>A (p.Glu47Lys)not specified [RCV005311322]uncertain significance85510262755102627Humanname
598182949CV3933643single nucleotide variantNM_052898.2(XKR4):c.230C>T (p.Ser77Leu)not specified [RCV005311323]uncertain significance85510271855102718Humanname
598275749CV3933651single nucleotide variantNM_207411.5(XKR5):c.197G>C (p.Cys66Ser)not specified [RCV005304883]uncertain significance868327626832762Humanname
598275750CV3933652single nucleotide variantNM_207411.5(XKR5):c.173G>A (p.Arg58Gln)not specified [RCV005304884]uncertain significance868327866832786Humanname
598182987CV3933654single nucleotide variantNM_207411.5(XKR5):c.210G>A (p.Met70Ile)not specified [RCV005311329]uncertain significance868327496832749Humanname
598275753CV3933656single nucleotide variantNM_207411.5(XKR5):c.214C>T (p.His72Tyr)not specified [RCV005304887]uncertain significance868327456832745Humanname
598182992CV3933659single nucleotide variantNM_173683.4(XKR6):c.133G>A (p.Gly45Ser)not specified [RCV005311330]uncertain significance81120120711201207Humanname
598183018CV3933669single nucleotide variantNM_173683.4(XKR6):c.224G>C (p.Arg75Pro)not specified [RCV005311334]uncertain significance81120111611201116Humanname
15104406CV700617single nucleotide variantNM_052898.2(XKR4):c.1677C>A (p.Arg559=)not provided [RCV000959679]benign85552395155523951Humanname
8628637CV83781single nucleotide variantNM_175878.3(XKR3):c.175C>T (p.Arg59Ter)Malignant melanoma [RCV000063862]not provided221680789916807899Humanname
8632773CV87988single nucleotide variantNM_173683.3(XKR6):c.1413C>T (p.Ser471=)Malignant melanoma [RCV000068080]not provided81089846510898465Humanname
8633045CV88259single nucleotide variantNM_052898.1(XKR4):c.1251C>T (p.Val417=)Malignant melanoma [RCV000068351]not provided85552352555523525Humanname
156038033CV2218725single nucleotide variantNM_052898.2(XKR4):c.439C>A (p.Leu147Ile)not specified [RCV004084652]uncertain significance85510292755102927Humanname
156177761CV2230427single nucleotide variantNM_052898.2(XKR4):c.481G>A (p.Val161Met)not specified [RCV004095879]uncertain significance85510296955102969Humanname
156300891CV2244999single nucleotide variantNM_018053.4(XKR8):c.973G>A (p.Gly325Ser)not specified [RCV004104730]uncertain significance12796698527966985Humanname
155985015CV2247823single nucleotide variantNM_207411.5(XKR5):c.338G>A (p.Arg113Gln)not specified [RCV004121287]uncertain significance868252546825254Humanname
155902416CV2274685single nucleotide variantNM_018053.4(XKR8):c.370G>A (p.Asp124Asn)not specified [RCV004139055]uncertain significance12796357327963573Humanname
155956497CV2281928single nucleotide variantNM_212559.3(XKRX):c.434G>A (p.Gly145Asp)not specified [RCV004138702]uncertain significanceX100922963100922963Humanname
156174576CV2284318single nucleotide variantNM_018053.4(XKR8):c.538G>A (p.Asp180Asn)not specified [RCV004146669]uncertain significance12796655027966550Humanname
156004452CV2290166single nucleotide variantNM_173683.4(XKR6):c.674C>T (p.Ser225Phe)not specified [RCV004152828]uncertain significance81120066611200666Humanname
155953369CV2303013single nucleotide variantNM_052898.2(XKR4):c.569C>T (p.Ala190Val)not specified [RCV004156807]uncertain significance85510305755103057Humanname
155906072CV2303238single nucleotide variantNM_207411.5(XKR5):c.949C>G (p.Leu317Val)not specified [RCV004156991]uncertain significance868123106812310Humanname
156349999CV2316120single nucleotide variantNM_052898.2(XKR4):c.530C>T (p.Ala177Val)not specified [RCV004174172]uncertain significance85510301855103018Humanname
156363208CV2330598single nucleotide variantNM_018053.4(XKR8):c.425C>T (p.Thr142Met)not specified [RCV004183194]uncertain significance12796362827963628Humanname
156340537CV2347939single nucleotide variantNM_018053.4(XKR8):c.452C>G (p.Ala151Gly)not specified [RCV004197629]uncertain significance12796365527963655Humanname
155923646CV2351788single nucleotide variantNM_207411.5(XKR5):c.436A>G (p.Thr146Ala)not specified [RCV004197943]likely benign868237226823722Humanname
156184621CV2377751single nucleotide variantNM_173683.4(XKR6):c.325A>C (p.Thr109Pro)not specified [RCV004230334]uncertain significance81120101511201015Humanname
155993532CV2379422single nucleotide variantNM_173683.4(XKR6):c.646G>A (p.Ala216Thr)not specified [RCV004223873]uncertain significance81120069411200694Humanname
156100395CV2392941single nucleotide variantNM_207411.5(XKR5):c.592G>T (p.Val198Phe)not specified [RCV004247285]uncertain significance868235666823566Humanname
156256029CV2397715single nucleotide variantNM_018053.4(XKR8):c.850C>T (p.Arg284Trp)not specified [RCV004237152]uncertain significance12796686227966862Humanname
329353938CV2436679single nucleotide variantNM_207411.5(XKR5):c.419T>C (p.Ile140Thr)not specified [RCV004258051]uncertain significance868251736825173Humanname
329374806CV2440052single nucleotide variantNM_207411.5(XKR5):c.799T>C (p.Phe267Leu)not specified [RCV004260522]uncertain significance868218776821877Humanname
329374423CV2443900single nucleotide variantNM_212559.3(XKRX):c.475C>T (p.Arg159Trp)not specified [RCV004258232]uncertain significanceX100922922100922922Humanname
329389243CV2448825single nucleotide variantNM_212559.3(XKRX):c.821T>C (p.Val274Ala)not provided [RCV005256906]|not specified [RCV004261512]likely benign|uncertain significanceX100914867100914867Humanname
329370998CV2461911single nucleotide variantNM_018053.4(XKR8):c.472C>T (p.Arg158Trp)not specified [RCV004271816]uncertain significance12796367527963675Humanname
401748734CV2692736single nucleotide variantNM_052898.2(XKR4):c.388G>A (p.Val130Ile)not specified [RCV004306283]likely benign85510287655102876Humanname
401748738CV2692737single nucleotide variantNM_052898.2(XKR4):c.673G>A (p.Ala225Thr)not specified [RCV004306284]uncertain significance85510316155103161Humanname
401748742CV2692738single nucleotide variantNM_052898.2(XKR4):c.718A>G (p.Ser240Gly)not specified [RCV004306285]uncertain significance85510320655103206Humanname
401756980CV2692741single nucleotide variantNM_173683.4(XKR6):c.335C>A (p.Ala112Asp)not specified [RCV004306288]uncertain significance81120100511201005Humanname
401756983CV2692742single nucleotide variantNM_173683.4(XKR6):c.346G>C (p.Glu116Gln)not specified [RCV004306289]likely benign81120099411200994Humanname
401758696CV2700704single nucleotide variantNM_207411.5(XKR5):c.845C>T (p.Ala282Val)not specified [RCV004313417]uncertain significance868158816815881Humanname
401775713CV2710682single nucleotide variantNM_018053.4(XKR8):c.655G>A (p.Ala219Thr)not specified [RCV004319582]uncertain significance12796666727966667Humanname
401749892CV2719438single nucleotide variantNM_207411.5(XKR5):c.865G>T (p.Ala289Ser)not specified [RCV004326839]uncertain significance868158616815861Humanname
401784150CV2721092single nucleotide variantNM_018053.4(XKR8):c.763C>T (p.Pro255Ser)not specified [RCV004328342]uncertain significance12796677527966775Humanname
401753344CV2722437single nucleotide variantNM_052898.2(XKR4):c.697A>G (p.Ser233Gly)not specified [RCV004322832]uncertain significance85510318555103185Humanname
401780046CV2725842single nucleotide variantNM_207411.5(XKR5):c.776C>T (p.Pro259Leu)not specified [RCV004316306]uncertain significance868219006821900Humanname
401751606CV2727067single nucleotide variantNM_018053.4(XKR8):c.544C>T (p.His182Tyr)not specified [RCV004325441]uncertain significance12796655627966556Humanname
401758264CV2729628single nucleotide variantNM_207411.5(XKR5):c.684T>A (p.Ser228Arg)not specified [RCV004331890]uncertain significance868219926821992Humanname
401893599CV2763760single nucleotide variantNM_207411.5(XKR5):c.673G>A (p.Ala225Thr)not specified [RCV004343244]uncertain significance868220036822003Humanname
401896417CV2781311single nucleotide variantNM_018053.4(XKR8):c.548G>A (p.Arg183Gln)not specified [RCV004352329]uncertain significance12796656027966560Humanname
405666159CV3349486single nucleotide variantNM_052898.2(XKR4):c.314G>A (p.Arg105Gln)not specified [RCV004485513]uncertain significance85510280255102802Humanname
405666163CV3349487single nucleotide variantNM_052898.2(XKR4):c.512T>G (p.Phe171Cys)not specified [RCV004485514]uncertain significance85510300055103000Humanname
405666167CV3349488single nucleotide variantNM_052898.2(XKR4):c.592G>A (p.Gly198Ser)not specified [RCV004485515]likely benign85510308055103080Humanname
405666173CV3349489single nucleotide variantNM_052898.2(XKR4):c.704G>C (p.Gly235Ala)not specified [RCV004485516]uncertain significance85510319255103192Humanname
405666180CV3349490single nucleotide variantNM_052898.2(XKR4):c.818C>T (p.Thr273Ile)not specified [RCV004485517]uncertain significance85535768955357689Humanname
405666215CV3349498single nucleotide variantNM_207411.5(XKR5):c.379C>A (p.Leu127Ile)not specified [RCV004485525]uncertain significance868252136825213Humanname
405666220CV3349499single nucleotide variantNM_207411.5(XKR5):c.430G>A (p.Val144Met)not specified [RCV004485526]uncertain significance868237286823728Humanname
405666226CV3349500single nucleotide variantNM_207411.5(XKR5):c.523C>A (p.Pro175Thr)not specified [RCV004485527]uncertain significance868236356823635Humanname
405666231CV3349501single nucleotide variantNM_207411.5(XKR5):c.533C>A (p.Ala178Asp)not specified [RCV004485528]uncertain significance868236256823625Humanname
405666234CV3349502single nucleotide variantNM_207411.5(XKR5):c.578G>C (p.Arg193Pro)not specified [RCV004485529]uncertain significance868235806823580Humanname
405666238CV3349503single nucleotide variantNM_207411.5(XKR5):c.662T>C (p.Phe221Ser)not specified [RCV004485530]uncertain significance868220146822014Humanname
405666241CV3349504single nucleotide variantNM_207411.5(XKR5):c.663C>G (p.Phe221Leu)not specified [RCV004485531]uncertain significance868220136822013Humanname
405666246CV3349505single nucleotide variantNM_207411.5(XKR5):c.682A>T (p.Ser228Cys)not specified [RCV004485532]uncertain significance868219946821994Humanname
405666251CV3349506single nucleotide variantNM_207411.5(XKR5):c.694G>T (p.Asp232Tyr)not specified [RCV004485533]uncertain significance868219826821982Humanname
405666258CV3349508single nucleotide variantNM_207411.5(XKR5):c.851A>G (p.Asp284Gly)not specified [RCV004485535]uncertain significance868158756815875Humanname
405666323CV3349521single nucleotide variantNM_173683.4(XKR6):c.316C>A (p.Gln106Lys)not specified [RCV004485548]uncertain significance81120102411201024Humanname
405666328CV3349522single nucleotide variantNM_173683.4(XKR6):c.424G>C (p.Asp142His)not specified [RCV004485549]uncertain significance81120091611200916Humanname
405666333CV3349523single nucleotide variantNM_173683.4(XKR6):c.586G>T (p.Val196Leu)not specified [RCV004485550]uncertain significance81120075411200754Humanname
405666381CV3349533single nucleotide variantNM_018053.4(XKR8):c.584T>C (p.Leu195Pro)not specified [RCV004485560]uncertain significance12796659627966596Humanname
405666386CV3349534single nucleotide variantNM_018053.4(XKR8):c.601G>A (p.Val201Met)not specified [RCV004485561]uncertain significance12796661327966613Humanname
405666392CV3349535single nucleotide variantNM_018053.4(XKR8):c.683A>C (p.Tyr228Ser)not specified [RCV004485562]uncertain significance12796669527966695Humanname
405666396CV3349536single nucleotide variantNM_018053.4(XKR8):c.772G>A (p.Glu258Lys)not specified [RCV004485563]uncertain significance12796678427966784Humanname
405666402CV3349537single nucleotide variantNM_018053.4(XKR8):c.980T>G (p.Phe327Cys)not specified [RCV004485564]uncertain significance12796699227966992Humanname
405666469CV3349551single nucleotide variantNM_212559.3(XKRX):c.772C>G (p.Leu258Val)not specified [RCV004485578]uncertain significanceX100914916100914916Humanname
405666474CV3349552single nucleotide variantNM_212559.3(XKRX):c.908T>G (p.Phe303Cys)not specified [RCV004485579]uncertain significanceX100914780100914780Humanname
407455873CV3488192single nucleotide variantNM_052898.2(XKR4):c.563C>T (p.Pro188Leu)not specified [RCV004685733]uncertain significance85510305155103051Humanname
407455878CV3488194single nucleotide variantNM_207411.5(XKR5):c.536T>A (p.Leu179His)not specified [RCV004685735]uncertain significance868236226823622Humanname
407455881CV3488195single nucleotide variantNM_207411.5(XKR5):c.532G>A (p.Ala178Thr)not specified [RCV004685736]uncertain significance868236266823626Humanname
407455894CV3488199single nucleotide variantNM_207411.5(XKR5):c.469C>A (p.Leu157Met)not specified [RCV004685740]uncertain significance868236896823689Humanname
407455899CV3488201single nucleotide variantNM_207411.5(XKR5):c.898G>A (p.Val300Ile)not specified [RCV004685742]uncertain significance868158286815828Humanname
407455907CV3488204single nucleotide variantNM_173683.4(XKR6):c.647C>A (p.Ala216Asp)not specified [RCV004685745]uncertain significance81120069311200693Humanname
407455911CV3488205single nucleotide variantNM_173683.4(XKR6):c.802C>T (p.Arg268Trp)not specified [RCV004685746]uncertain significance81092479310924793Humanname
407455919CV3488208single nucleotide variantNM_173683.4(XKR6):c.328C>T (p.Pro110Ser)not specified [RCV004685749]uncertain significance81120101211201012Humanname
407455941CV3488217single nucleotide variantNM_018053.4(XKR8):c.547C>T (p.Arg183Trp)not specified [RCV004685757]uncertain significance12796655927966559Humanname
407455949CV3488220single nucleotide variantNM_018053.4(XKR8):c.593G>A (p.Gly198Asp)not specified [RCV004685760]uncertain significance12796660527966605Humanname
407465626CV3488226single nucleotide variantNM_212559.3(XKRX):c.919G>A (p.Gly307Ser)not specified [RCV004688819]uncertain significanceX100914769100914769Humanname
597804538CV3634172single nucleotide variantNM_052898.2(XKR4):c.988A>G (p.Ser330Gly)not specified [RCV004882305]uncertain significance85535785955357859Humanname
597751379CV3634174single nucleotide variantNM_052898.2(XKR4):c.445C>G (p.Leu149Val)not specified [RCV004892767]uncertain significance85510293355102933Humanname
597751384CV3634175single nucleotide variantNM_052898.2(XKR4):c.355G>C (p.Val119Leu)not specified [RCV004892768]uncertain significance85510284355102843Humanname
597751389CV3634184single nucleotide variantNM_207411.5(XKR5):c.862G>A (p.Gly288Arg)not specified [RCV004892769]uncertain significance868158646815864Humanname
597804564CV3634188single nucleotide variantNM_207411.5(XKR5):c.850G>A (p.Asp284Asn)not specified [RCV004882318]uncertain significance868158766815876Humanname
597804566CV3634189single nucleotide variantNM_207411.5(XKR5):c.404C>T (p.Ser135Leu)not specified [RCV004882319]uncertain significance868251886825188Humanname
597804571CV3634192single nucleotide variantNM_173683.4(XKR6):c.823C>T (p.Arg275Cys)not specified [RCV004882322]uncertain significance81092477210924772Humanname
597804577CV3634195single nucleotide variantNM_173683.4(XKR6):c.843G>A (p.Met281Ile)not specified [RCV004882325]uncertain significance81092475210924752Humanname
597751401CV3634199single nucleotide variantNM_173683.4(XKR6):c.611C>A (p.Pro204His)not specified [RCV004892771]uncertain significance81120072911200729Humanname
597804584CV3634201single nucleotide variantNM_173683.4(XKR6):c.481T>A (p.Tyr161Asn)not specified [RCV004882328]uncertain significance81120085911200859Humanname
597751411CV3634202single nucleotide variantNM_173683.4(XKR6):c.553G>A (p.Val185Met)not specified [RCV004892773]uncertain significance81120078711200787Humanname
597804608CV3634219single nucleotide variantNM_018053.4(XKR8):c.675C>A (p.Phe225Leu)not specified [RCV004882339]uncertain significance12796668727966687Humanname
597804609CV3634220single nucleotide variantNM_018053.4(XKR8):c.578C>T (p.Pro193Leu)not specified [RCV004882340]uncertain significance12796659027966590Humanname
597751443CV3634221single nucleotide variantNM_018053.4(XKR8):c.851G>A (p.Arg284Gln)not specified [RCV004892779]uncertain significance12796686327966863Humanname
597751448CV3634222single nucleotide variantNM_018053.4(XKR8):c.784C>T (p.Arg262Trp)not specified [RCV004892780]uncertain significance12796679627966796Humanname
597804613CV3634225single nucleotide variantNM_018053.4(XKR8):c.551C>A (p.Ala184Asp)not specified [RCV004882342]uncertain significance12796656327966563Humanname
597804625CV3634231single nucleotide variantNM_212559.3(XKRX):c.848A>G (p.Glu283Gly)not specified [RCV004882348]uncertain significanceX100914840100914840Humanname
597804628CV3634232single nucleotide variantNM_212559.3(XKRX):c.874G>A (p.Gly292Ser)not specified [RCV004882349]uncertain significanceX100914814100914814Humanname
597804629CV3634233single nucleotide variantNM_212559.3(XKRX):c.616G>A (p.Val206Ile)not specified [RCV004882350]uncertain significanceX100915072100915072Humanname
597751459CV3634235single nucleotide variantNM_212559.3(XKRX):c.800T>C (p.Leu267Ser)not specified [RCV004892782]uncertain significanceX100914888100914888Humanname
597751469CV3634237single nucleotide variantNM_212559.3(XKRX):c.808G>A (p.Val270Met)not specified [RCV004892784]uncertain significanceX100914880100914880Humanname
598275746CV3933641single nucleotide variantNM_052898.2(XKR4):c.320A>G (p.Tyr107Cys)not specified [RCV005304880]uncertain significance85510280855102808Humanname
598182956CV3933644single nucleotide variantNM_052898.2(XKR4):c.550A>G (p.Ser184Gly)not specified [RCV005311324]uncertain significance85510303855103038Humanname
598275747CV3933645single nucleotide variantNM_052898.2(XKR4):c.976G>T (p.Val326Leu)not specified [RCV005304881]uncertain significance85535784755357847Humanname
598182968CV3933647single nucleotide variantNM_207411.5(XKR5):c.694G>C (p.Asp232His)not specified [RCV005311326]uncertain significance868219826821982Humanname
598182974CV3933648single nucleotide variantNM_207411.5(XKR5):c.329C>T (p.Ser110Leu)not specified [RCV005311327]uncertain significance868252636825263Humanname
598275748CV3933649single nucleotide variantNM_207411.5(XKR5):c.701C>G (p.Thr234Ser)not specified [RCV005304882]uncertain significance868219756821975Humanname
598182981CV3933650single nucleotide variantNM_207411.5(XKR5):c.484C>T (p.Arg162Cys)not specified [RCV005311328]uncertain significance868236746823674Humanname
598275751CV3933653single nucleotide variantNM_207411.5(XKR5):c.450G>T (p.Trp150Cys)not specified [RCV005304885]uncertain significance868237086823708Humanname
598275754CV3933657single nucleotide variantNM_207411.5(XKR5):c.364G>A (p.Gly122Arg)not specified [RCV005304888]uncertain significance868252286825228Humanname
598275756CV3933660single nucleotide variantNM_173683.4(XKR6):c.629G>T (p.Gly210Val)not specified [RCV005304890]uncertain significance81120071111200711Humanname
598275757CV3933661single nucleotide variantNM_173683.4(XKR6):c.388C>A (p.Leu130Met)not specified [RCV005304891]uncertain significance81120095211200952Humanname
598183005CV3933665single nucleotide variantNM_173683.4(XKR6):c.304G>C (p.Gly102Arg)not specified [RCV005311332]uncertain significance81120103611201036Humanname
598275760CV3933667single nucleotide variantNM_173683.4(XKR6):c.712G>T (p.Val238Leu)not specified [RCV005304894]uncertain significance81120062811200628Humanname
598275763CV3933673single nucleotide variantNM_173683.4(XKR6):c.968C>A (p.Ser323Tyr)not specified [RCV005304897]uncertain significance81089891010898910Humanname
598183039CV3933674single nucleotide variantNM_173683.4(XKR6):c.446T>A (p.Leu149Gln)not specified [RCV005311337]uncertain significance81120089411200894Humanname
598275764CV3933675single nucleotide variantNM_173683.4(XKR6):c.629G>A (p.Gly210Asp)not specified [RCV005304898]uncertain significance81120071111200711Humanname
598275769CV3933681single nucleotide variantNM_018053.4(XKR8):c.556C>T (p.Arg186Cys)not specified [RCV005304903]uncertain significance12796656827966568Humanname
598275770CV3933683single nucleotide variantNM_018053.4(XKR8):c.676C>A (p.Pro226Thr)not specified [RCV005304904]uncertain significance12796668827966688Humanname
598275773CV3933686single nucleotide variantNM_001011720.2(XKR9):c.11C>G (p.Thr4Ser)not specified [RCV005304907]uncertain significance87068106970681069Humanname
598275774CV3933687single nucleotide variantNM_212559.3(XKRX):c.914G>A (p.Arg305Gln)not specified [RCV005304908]uncertain significanceX100914774100914774Humanname
598183064CV3933691single nucleotide variantNM_212559.3(XKRX):c.701G>T (p.Arg234Leu)not specified [RCV005311341]uncertain significanceX100914987100914987Humanname
598183072CV3933693single nucleotide variantNM_212559.3(XKRX):c.755C>A (p.Thr252Asn)not specified [RCV005311342]uncertain significanceX100914933100914933Humanname
598275778CV3933694single nucleotide variantNM_212559.3(XKRX):c.320T>C (p.Leu107Ser)not specified [RCV005304912]uncertain significanceX100927985100927985Humanname
8637558CV92784single nucleotide variantNM_175878.3(XKR3):c.559C>T (p.Leu187Phe)Malignant melanoma [RCV000072882]not provided221679980116799801Humanname
155644873CV1708843single nucleotide variantNM_173683.4(XKR6):c.1787C>G (p.Ala596Gly)not provided [RCV002291440]uncertain significance81089809110898091Humanname
156269596CV2195099single nucleotide variantNM_173683.4(XKR6):c.1042G>A (p.Asp348Asn)not specified [RCV004078008]uncertain significance81089883610898836Humanname
156077271CV2198221single nucleotide variantNM_052898.2(XKR4):c.1864G>A (p.Ala622Thr)not specified [RCV004079804]uncertain significance85552413855524138Humanname
156069718CV2203825single nucleotide variantNM_212559.3(XKRX):c.1237A>G (p.Thr413Ala)not specified [RCV004074460]likely benignX100914451100914451Humanname
156389742CV2222679single nucleotide variantNM_052898.2(XKR4):c.1522A>G (p.Met508Val)not specified [RCV004101541]uncertain significance85552379655523796Humanname
156167951CV2237275single nucleotide variantNM_212559.3(XKRX):c.1088T>C (p.Met363Thr)not specified [RCV004115000]uncertain significanceX100914600100914600Humanname
156154519CV2242314single nucleotide variantNM_212559.3(XKRX):c.1035C>A (p.Asn345Lys)not specified [RCV004111329]uncertain significanceX100914653100914653Humanname
156054115CV2243044single nucleotide variantNM_173683.4(XKR6):c.1628C>T (p.Pro543Leu)not specified [RCV004109963]uncertain significance81089825010898250Humanname
155996878CV2250500single nucleotide variantNM_173683.4(XKR6):c.1397C>T (p.Pro466Leu)not specified [RCV004127365]uncertain significance81089848110898481Humanname
156194735CV2251765single nucleotide variantNM_052898.2(XKR4):c.1620C>G (p.Asp540Glu)not specified [RCV004119758]likely benign85552389455523894Humanname
156177836CV2258196single nucleotide variantNM_173683.4(XKR6):c.1543G>A (p.Glu515Lys)not specified [RCV004121574]uncertain significance81089833510898335Humanname
156032299CV2259567single nucleotide variantNM_212559.3(XKRX):c.1345G>A (p.Val449Ile)not specified [RCV004116616]uncertain significanceX100914343100914343Humanname
156159725CV2262599single nucleotide variantNM_018053.4(XKR8):c.1036T>C (p.Cys346Arg)not specified [RCV004130803]likely benign12796704827967048Humanname
156238623CV2285902single nucleotide variantNM_052898.2(XKR4):c.1906G>A (p.Asp636Asn)not specified [RCV004143832]uncertain significance85552418055524180Humanname
156015687CV2298948single nucleotide variantNM_207411.5(XKR5):c.1064G>C (p.Gly355Ala)not specified [RCV004156477]uncertain significance868121956812195Humanname
156345898CV2308937single nucleotide variantNM_001011718.2(XKR7):c.59C>A (p.Ala20Asp)not specified [RCV004169225]uncertain significance203196823431968234Humanname
156159786CV2322771single nucleotide variantNM_173683.4(XKR6):c.1208A>G (p.His403Arg)not specified [RCV004182878]uncertain significance81089867010898670Humanname
156256315CV2325859single nucleotide variantNM_212559.3(XKRX):c.1106T>A (p.Phe369Tyr)not specified [RCV004173731]uncertain significanceX100914582100914582Humanname
156181906CV2327859single nucleotide variantNM_173683.4(XKR6):c.1028G>A (p.Arg343Gln)not specified [RCV004179190]uncertain significance81089885010898850Humanname
156284417CV2334759single nucleotide variantNM_018053.4(XKR8):c.1110G>C (p.Gln370His)not specified [RCV004188736]uncertain significance12796712227967122Humanname
156042550CV2342235single nucleotide variantNM_001011718.2(XKR7):c.70C>T (p.Arg24Trp)not specified [RCV004191812]uncertain significance203196824531968245Humanname
156344442CV2364281single nucleotide variantNM_212559.3(XKRX):c.1094T>C (p.Leu365Ser)not specified [RCV004223507]uncertain significanceX100914594100914594Humanname
156040872CV2387660single nucleotide variantNM_173683.4(XKR6):c.1465G>A (p.Ala489Thr)not specified [RCV004234206]uncertain significance81089841310898413Humanname
155963370CV2388386single nucleotide variantNM_052898.2(XKR4):c.1480G>A (p.Val494Met)not specified [RCV004234835]uncertain significance85552375455523754Humanname
329359068CV2425495single nucleotide variantNM_173683.4(XKR6):c.1168G>A (p.Val390Met)not specified [RCV004252938]uncertain significance81089871010898710Humanname
329376219CV2431770single nucleotide variantNM_173683.4(XKR6):c.1457C>T (p.Ala486Val)not specified [RCV004248930]uncertain significance81089842110898421Humanname
329373618CV2452563single nucleotide variantNM_001011718.2(XKR7):c.61G>T (p.Gly21Cys)not specified [RCV004273147]uncertain significance203196823631968236Humanname
329396396CV2462629single nucleotide variantNM_052898.2(XKR4):c.1577G>A (p.Cys526Tyr)not specified [RCV004278571]uncertain significance85552385155523851Humanname
401759034CV2705339single nucleotide variantNM_173683.4(XKR6):c.1058G>A (p.Ser353Asn)not specified [RCV004312017]uncertain significance81089882010898820Humanname
401765849CV2717892single nucleotide variantNM_001386955.1(XKR3):c.73C>G (p.Leu25Val)not specified [RCV004321859]uncertain significance221680800116808001Humanname
401750110CV2719518single nucleotide variantNM_052898.2(XKR4):c.1105T>C (p.Tyr369His)not specified [RCV004326909]uncertain significance85552337955523379Humanname
401770981CV2726322single nucleotide variantNM_207411.5(XKR5):c.1679C>G (p.Pro560Arg)not specified [RCV004326764]uncertain significance868115806811580Humanname
401755565CV2730948single nucleotide variantNM_173683.4(XKR6):c.1895A>G (p.Tyr632Cys)not specified [RCV004332634]uncertain significance81089798310897983Humanname
401881741CV2783941single nucleotide variantNM_173683.4(XKR6):c.1322G>A (p.Arg441Gln)not specified [RCV004362363]uncertain significance81089855610898556Humanname
405666132CV3349481single nucleotide variantNM_001386955.1(XKR3):c.64G>C (p.Glu22Gln)not specified [RCV004485508]uncertain significance221680801016808010Humanname
405666183CV3349491single nucleotide variantNM_207411.5(XKR5):c.1048G>A (p.Ala350Thr)not specified [RCV004485518]uncertain significance868122116812211Humanname
405666196CV3349494single nucleotide variantNM_207411.5(XKR5):c.1378C>G (p.Arg460Gly)not specified [RCV004485521]uncertain significance868118816811881Humanname
405666206CV3349496single nucleotide variantNM_207411.5(XKR5):c.1853G>C (p.Gly618Ala)not specified [RCV004485523]uncertain significance868114066811406Humanname
405666211CV3349497single nucleotide variantNM_207411.5(XKR5):c.2050T>C (p.Phe684Leu)not specified [RCV004485524]uncertain significance868112096811209Humanname
405666262CV3349509single nucleotide variantNM_173683.4(XKR6):c.1027C>T (p.Arg343Trp)not specified [RCV004485536]uncertain significance81089885110898851Humanname
405666273CV3349511single nucleotide variantNM_173683.4(XKR6):c.1165T>C (p.Phe389Leu)not specified [RCV004485538]uncertain significance81089871310898713Humanname
405666278CV3349512single nucleotide variantNM_173683.4(XKR6):c.1370C>T (p.Thr457Met)not specified [RCV004485539]uncertain significance81089850810898508Humanname
405666285CV3349513single nucleotide variantNM_173683.4(XKR6):c.1664C>T (p.Thr555Met)not specified [RCV004485540]uncertain significance81089821410898214Humanname
405666290CV3349514single nucleotide variantNM_173683.4(XKR6):c.1714A>T (p.Thr572Ser)not specified [RCV004485541]uncertain significance81089816410898164Humanname
405666295CV3349515single nucleotide variantNM_173683.4(XKR6):c.1735C>T (p.Leu579Phe)not specified [RCV004485542]uncertain significance81089814310898143Humanname
405666305CV3349517single nucleotide variantNM_173683.4(XKR6):c.1739C>T (p.Pro580Leu)not specified [RCV004485544]uncertain significance81089813910898139Humanname
405666310CV3349518single nucleotide variantNM_173683.4(XKR6):c.1858G>A (p.Ala620Thr)not specified [RCV004485545]uncertain significance81089802010898020Humanname
405666367CV3349530single nucleotide variantNM_018053.4(XKR8):c.1073G>A (p.Arg358Gln)not specified [RCV004485557]uncertain significance12796708527967085Humanname
405666372CV3349531single nucleotide variantNM_018053.4(XKR8):c.1092G>T (p.Glu364Asp)not specified [RCV004485558]uncertain significance12796710427967104Humanname
405666454CV3349548single nucleotide variantNM_212559.3(XKRX):c.1014T>G (p.Asp338Glu)not specified [RCV004485575]uncertain significanceX100914674100914674Humanname
405666460CV3349549single nucleotide variantNM_212559.3(XKRX):c.1291A>T (p.Thr431Ser)not specified [RCV004485576]uncertain significanceX100914397100914397Humanname
407465618CV3488191single nucleotide variantNM_052898.2(XKR4):c.1099A>G (p.Ile367Val)not specified [RCV004688817]uncertain significance85552337355523373Humanname
407455876CV3488193single nucleotide variantNM_052898.2(XKR4):c.1432T>C (p.Tyr478His)not specified [RCV004685734]uncertain significance85552370655523706Humanname
407455904CV3488203single nucleotide variantNM_207411.5(XKR5):c.1310G>A (p.Gly437Glu)not specified [RCV004685744]uncertain significance868119496811949Humanname
407455914CV3488206single nucleotide variantNM_173683.4(XKR6):c.1828A>G (p.Ile610Val)not specified [RCV004685747]uncertain significance81089805010898050Humanname
407455925CV3488210single nucleotide variantNM_001011718.2(XKR7):c.40C>G (p.Pro14Ala)not specified [RCV004685751]uncertain significance203196821531968215Humanname
407455962CV3488225single nucleotide variantNM_212559.3(XKRX):c.1289G>A (p.Arg430Gln)not specified [RCV004685765]likely benignX100914399100914399Humanname
407455965CV3488227single nucleotide variantNM_212559.3(XKRX):c.1156C>A (p.Gln386Lys)not specified [RCV004685766]uncertain significanceX100914532100914532Humanname
597751370CV3634169single nucleotide variantNM_001386955.1(XKR3):c.53C>T (p.Ser18Phe)not specified [RCV004892765]uncertain significance221680802116808021Humanname
597804536CV3634170single nucleotide variantNM_001386955.1(XKR3):c.77G>T (p.Gly26Val)not specified [RCV004882304]uncertain significance221680799716807997Humanname
597751375CV3634171single nucleotide variantNM_052898.2(XKR4):c.1769T>C (p.Ile590Thr)not specified [RCV004892766]uncertain significance85552404355524043Humanname
597804539CV3634173single nucleotide variantNM_052898.2(XKR4):c.1855G>A (p.Ala619Thr)not specified [RCV004882306]uncertain significance85552412955524129Humanname
597804541CV3634176single nucleotide variantNM_052898.2(XKR4):c.1153G>T (p.Ala385Ser)not specified [RCV004882307]uncertain significance85552342755523427Humanname
597804546CV3634178single nucleotide variantNM_052898.2(XKR4):c.1304T>C (p.Met435Thr)not specified [RCV004882309]uncertain significance85552357855523578Humanname
597804550CV3634180single nucleotide variantNM_052898.2(XKR4):c.1408G>A (p.Ala470Thr)not specified [RCV004882311]uncertain significance85552368255523682Humanname
597804552CV3634181single nucleotide variantNM_052898.2(XKR4):c.1194G>C (p.Gln398His)not specified [RCV004882312]uncertain significance85552346855523468Humanname
597804557CV3634185single nucleotide variantNM_207411.5(XKR5):c.1956G>C (p.Arg652Ser)not specified [RCV004882315]uncertain significance868113036811303Humanname
597804573CV3634193single nucleotide variantNM_173683.4(XKR6):c.1168G>C (p.Val390Leu)not specified [RCV004882323]uncertain significance81089871010898710Humanname
597804575CV3634194single nucleotide variantNM_173683.4(XKR6):c.1127C>T (p.Ala376Val)not specified [RCV004882324]uncertain significance81089875110898751Humanname
597804582CV3634198single nucleotide variantNM_173683.4(XKR6):c.1699C>A (p.Pro567Thr)not specified [RCV004882327]uncertain significance81089817910898179Humanname
597804586CV3634203single nucleotide variantNM_173683.4(XKR6):c.1437T>G (p.Cys479Trp)not specified [RCV004882329]uncertain significance81089844110898441Humanname
597804611CV3634224single nucleotide variantNM_018053.4(XKR8):c.1088C>G (p.Pro363Arg)not specified [RCV004882341]uncertain significance12796710027967100Humanname
598275745CV3933640single nucleotide variantNM_001386955.1(XKR3):c.46G>A (p.Val16Ile)not specified [RCV005304879]uncertain significance221680802816808028Humanname
598182962CV3933646single nucleotide variantNM_052898.2(XKR4):c.1360C>A (p.Arg454Ser)not specified [RCV005311325]uncertain significance85552363455523634Humanname
598275755CV3933658single nucleotide variantNM_173683.4(XKR6):c.1702A>G (p.Met568Val)not specified [RCV005304889]uncertain significance81089817610898176Humanname
598275758CV3933662single nucleotide variantNM_173683.4(XKR6):c.1639G>A (p.Val547Ile)not specified [RCV005304892]uncertain significance81089823910898239Humanname
598182999CV3933664single nucleotide variantNM_173683.4(XKR6):c.1825A>G (p.Thr609Ala)not specified [RCV005311331]uncertain significance81089805310898053Humanname
598183011CV3933666single nucleotide variantNM_173683.4(XKR6):c.1357A>T (p.Asn453Tyr)not specified [RCV005311333]uncertain significance81089852110898521Humanname
598183026CV3933670single nucleotide variantNM_173683.4(XKR6):c.1344A>G (p.Ile448Met)not specified [RCV005311335]uncertain significance81089853410898534Humanname
598183033CV3933671single nucleotide variantNM_173683.4(XKR6):c.1112G>A (p.Arg371Gln)not specified [RCV005311336]uncertain significance81089876610898766Humanname
598275762CV3933672single nucleotide variantNM_173683.4(XKR6):c.1891C>T (p.Leu631Phe)not specified [RCV005304896]uncertain significance81089798710897987Humanname
598275775CV3933689single nucleotide variantNM_212559.3(XKRX):c.1288C>T (p.Arg430Trp)not specified [RCV005304909]uncertain significanceX100914400100914400Humanname
598275776CV3933690single nucleotide variantNM_212559.3(XKRX):c.1187G>T (p.Gly396Val)not specified [RCV005304910]uncertain significanceX100914501100914501Humanname
598275777CV3933692single nucleotide variantNM_212559.3(XKRX):c.1111G>A (p.Gly371Arg)not specified [RCV005304911]uncertain significanceX100914577100914577Humanname
8626497CV81641single nucleotide variantNM_173683.3(XKR6):c.1321C>T (p.Arg441Ter)Malignant melanoma [RCV000061719]not provided81089855710898557Humanname
156248435CV2221999single nucleotide variantNM_001011720.2(XKR9):c.260G>A (p.Gly87Glu)not specified [RCV004102990]uncertain significance87068131870681318Humanname
156036429CV2249927single nucleotide variantNM_001386955.1(XKR3):c.264C>A (p.Phe88Leu)not specified [RCV004122899]uncertain significance221680781016807810Humanname
156011399CV2291140single nucleotide variantNM_001011720.2(XKR9):c.290A>G (p.Lys97Arg)not specified [RCV004153450]uncertain significance87070695070706950Humanname
156063130CV2352708single nucleotide variantNM_001011720.2(XKR9):c.204G>C (p.Lys68Asn)not specified [RCV004198734]uncertain significance87068126270681262Humanname
156031967CV2376437single nucleotide variantNM_001386955.1(XKR3):c.176G>A (p.Arg59Gln)not specified [RCV004220620]uncertain significance221680789816807898Humanname
156345861CV2377789single nucleotide variantNM_001011718.2(XKR7):c.128T>G (p.Val43Gly)not specified [RCV004230369]uncertain significance203196830331968303Humanname
401920526CV2821904single nucleotide variantNM_001386955.1(XKR3):c.1278C>T (p.Ile426=)not provided [RCV003431612]likely benign221678372116783721Humanname
405666406CV3349538single nucleotide variantNM_001011720.2(XKR9):c.273G>T (p.Arg91Ser)not specified [RCV004485565]uncertain significance87070693370706933Humanname
407455930CV3488212single nucleotide variantNM_001011718.2(XKR7):c.115C>T (p.Pro39Ser)not specified [RCV004685753]uncertain significance203196829031968290Humanname
407455933CV3488213single nucleotide variantNM_001011718.2(XKR7):c.209A>G (p.Asp70Gly)not specified [RCV004685754]uncertain significance203196838431968384Humanname
597804590CV3634205single nucleotide variantNM_001011718.2(XKR7):c.149C>G (p.Pro50Arg)not specified [RCV004882331]uncertain significance203196832431968324Humanname
597751426CV3634211single nucleotide variantNM_001011718.2(XKR7):c.118C>A (p.Pro40Thr)not specified [RCV004892776]uncertain significance203196829331968293Humanname
598275741CV3933633single nucleotide variantNM_001386955.1(XKR3):c.112A>G (p.Ile38Val)not specified [RCV005304875]uncertain significance221680796216807962Humanname
598275742CV3933635single nucleotide variantNM_001386955.1(XKR3):c.151G>A (p.Gly51Ser)not specified [RCV005304876]uncertain significance221680792316807923Humanname
598275765CV3933677single nucleotide variantNM_001011718.2(XKR7):c.130G>A (p.Gly44Arg)not specified [RCV005304899]uncertain significance203196830531968305Humanname
8628484CV83628single nucleotide variantNM_001011718.1(XKR7):c.1653G>A (p.Leu551=)Malignant melanoma [RCV000063709]not provided203199737031997370Humanname
156380620CV2208300single nucleotide variantNM_001011720.2(XKR9):c.479C>T (p.Ala160Val)not specified [RCV004088739]uncertain significance87070713970707139Humanname
155967841CV2216907single nucleotide variantNM_001386955.1(XKR3):c.520G>A (p.Gly174Ser)not specified [RCV004083318]uncertain significance221679984016799840Humanname
156077189CV2230272single nucleotide variantNM_001011720.2(XKR9):c.314A>C (p.Lys105Thr)not specified [RCV004099886]likely benign87070697470706974Humanname
156384774CV2231185single nucleotide variantNM_001386955.1(XKR3):c.998A>G (p.Lys333Arg)not specified [RCV004094388]uncertain significance221678400116784001Humanname
156358089CV2250868single nucleotide variantNM_001011720.2(XKR9):c.737C>T (p.Ala246Val)not specified [RCV004123462]uncertain significance87073403970734039Humanname
156106164CV2257259single nucleotide variantNM_001386955.1(XKR3):c.833C>T (p.Ala278Val)not specified [RCV004125372]uncertain significance221678416616784166Humanname
156087598CV2258995single nucleotide variantNM_001011718.2(XKR7):c.433G>C (p.Ala145Pro)not specified [RCV004120266]uncertain significance203196860831968608Humanname
156059663CV2262998single nucleotide variantNM_001386955.1(XKR3):c.856A>T (p.Ser286Cys)not specified [RCV004131260]uncertain significance221678414316784143Humanname
156069563CV2270992single nucleotide variantNM_001011718.2(XKR7):c.485C>T (p.Ala162Val)not specified [RCV004133809]uncertain significance203196866031968660Humanname
156327393CV2332099single nucleotide variantNM_001011720.2(XKR9):c.499G>A (p.Ala167Thr)not specified [RCV004189141]uncertain significance87073380170733801Humanname
155975404CV2341545single nucleotide variantNM_001011718.2(XKR7):c.875G>A (p.Arg292Gln)not specified [RCV004188935]uncertain significance203199659231996592Humanname
156013308CV2359065single nucleotide variantNM_001011718.2(XKR7):c.466G>A (p.Glu156Lys)not specified [RCV004212386]uncertain significance203196864131968641Humanname
156402504CV2361544single nucleotide variantNM_001011718.2(XKR7):c.475C>T (p.Pro159Ser)not specified [RCV004221178]uncertain significance203196865031968650Humanname
155938272CV2365000single nucleotide variantNM_001386955.1(XKR3):c.679A>G (p.Thr227Ala)not specified [RCV004222292]uncertain significance221678432016784320Humanname
156253331CV2366174single nucleotide variantNM_001011720.2(XKR9):c.358C>A (p.Leu120Ile)not specified [RCV004210203]uncertain significance87070701870707018Humanname
155999639CV2378608single nucleotide variantNM_001011720.2(XKR9):c.787T>C (p.Tyr263His)not specified [RCV004231087]uncertain significance87073408970734089Humanname
329354079CV2436914single nucleotide variantNM_001386955.1(XKR3):c.692C>T (p.Pro231Leu)not specified [RCV004260295]uncertain significance221678430716784307Humanname
329357584CV2453666single nucleotide variantNM_001011718.2(XKR7):c.404G>A (p.Gly135Asp)not specified [RCV004269321]uncertain significance203196857931968579Humanname
329402099CV2453976single nucleotide variantNM_001011720.2(XKR9):c.305C>A (p.Ala102Glu)not specified [RCV004271643]uncertain significance87070696570706965Humanname
401780054CV2676797single nucleotide variantNM_001011720.2(XKR9):c.908C>G (p.Thr303Ser)not specified [RCV004290967]uncertain significance87073421070734210Humanname
401747089CV2679004single nucleotide variantNM_001386955.1(XKR3):c.715G>C (p.Val239Leu)not specified [RCV004295015]uncertain significance221678428416784284Humanname
401732846CV2691127single nucleotide variantNM_001011720.2(XKR9):c.674T>A (p.Phe225Tyr)not specified [RCV004301122]uncertain significance87073397670733976Humanname
401759885CV2698662single nucleotide variantNM_001011720.2(XKR9):c.351A>C (p.Gln117His)not specified [RCV004299130]uncertain significance87070701170707011Humanname
401770433CV2715181single nucleotide variantNM_001011720.2(XKR9):c.535A>G (p.Thr179Ala)not specified [RCV004324535]uncertain significance87073383770733837Humanname
401768427CV2716612single nucleotide variantNM_001011718.2(XKR7):c.895G>A (p.Ala299Thr)not specified [RCV004327681]uncertain significance203199661231996612Humanname
401779243CV2733261single nucleotide variantNM_001011718.2(XKR7):c.997G>A (p.Val333Met)not specified [RCV004332173]uncertain significance203199671431996714Humanname
401881537CV2759450single nucleotide variantNM_001011718.2(XKR7):c.625C>G (p.Arg209Gly)not specified [RCV004338445]uncertain significance203199510831995108Humanname
401897589CV2776382single nucleotide variantNM_001386955.1(XKR3):c.587G>A (p.Arg196Lys)not specified [RCV004355510]uncertain significance221679977316799773Humanname
401895890CV2779486single nucleotide variantNM_001011718.2(XKR7):c.488C>T (p.Pro163Leu)not specified [RCV004351115]uncertain significance203196866331968663Humanname
401885665CV2783252single nucleotide variantNM_001386955.1(XKR3):c.794T>C (p.Leu265Pro)not specified [RCV004363868]uncertain significance221678420516784205Humanname
401909237CV2821131single nucleotide variantNM_001011720.2(XKR9):c.599G>A (p.Cys200Tyr)not provided [RCV003423938]likely benign87073390170733901Humanname
405666110CV3349477single nucleotide variantNM_001386955.1(XKR3):c.518T>A (p.Leu173His)not specified [RCV004485504]uncertain significance221679984216799842Humanname
405666116CV3349478single nucleotide variantNM_001386955.1(XKR3):c.521G>T (p.Gly174Val)not specified [RCV004485505]uncertain significance221679983916799839Humanname
405666121CV3349479single nucleotide variantNM_001386955.1(XKR3):c.623C>T (p.Thr208Ile)not specified [RCV004485506]uncertain significance221678437616784376Humanname
405666127CV3349480single nucleotide variantNM_001386955.1(XKR3):c.626A>G (p.Tyr209Cys)not specified [RCV004485507]uncertain significance221678437316784373Humanname
405666136CV3349482single nucleotide variantNM_001386955.1(XKR3):c.755C>G (p.Thr252Ser)not specified [RCV004485509]uncertain significance221678424416784244Humanname
405666141CV3349483single nucleotide variantNM_001386955.1(XKR3):c.845A>G (p.Glu282Gly)not specified [RCV004485510]uncertain significance221678415416784154Humanname
405666147CV3349484single nucleotide variantNM_001386955.1(XKR3):c.871C>T (p.Pro291Ser)not specified [RCV004485511]uncertain significance221678412816784128Humanname
405666344CV3349525single nucleotide variantNM_001011718.2(XKR7):c.362G>T (p.Gly121Val)not specified [RCV004485552]uncertain significance203196853731968537Humanname
405666348CV3349526single nucleotide variantNM_001011718.2(XKR7):c.374C>G (p.Pro125Arg)not specified [RCV004485553]uncertain significance203196854931968549Humanname
405666352CV3349527single nucleotide variantNM_001011718.2(XKR7):c.628G>A (p.Gly210Arg)not specified [RCV004485554]uncertain significance203199511131995111Humanname
405666357CV3349528single nucleotide variantNM_001011718.2(XKR7):c.631G>A (p.Glu211Lys)not specified [RCV004485555]uncertain significance203199511431995114Humanname
405666361CV3349529single nucleotide variantNM_001011718.2(XKR7):c.980A>G (p.Tyr327Cys)not specified [RCV004485556]uncertain significance203199669731996697Humanname
405666410CV3349539single nucleotide variantNM_001011720.2(XKR9):c.339C>A (p.Phe113Leu)not specified [RCV004485566]uncertain significance87070699970706999Humanname
405666419CV3349541single nucleotide variantNM_001011720.2(XKR9):c.431G>A (p.Cys144Tyr)not specified [RCV004485568]uncertain significance87070709170707091Humanname
405666424CV3349542single nucleotide variantNM_001011720.2(XKR9):c.458T>C (p.Ile153Thr)not specified [RCV004485569]uncertain significance87070711870707118Humanname
405666429CV3349543single nucleotide variantNM_001011720.2(XKR9):c.549A>C (p.Gln183His)not specified [RCV004485570]uncertain significance87073385170733851Humanname
405666435CV3349544single nucleotide variantNM_001011720.2(XKR9):c.604A>C (p.Lys202Gln)not specified [RCV004485571]uncertain significance87073390670733906Humanname
405666437CV3349545single nucleotide variantNM_001011720.2(XKR9):c.651G>A (p.Met217Ile)not specified [RCV004485572]uncertain significance87073395370733953Humanname
405666442CV3349546single nucleotide variantNM_001011720.2(XKR9):c.823T>G (p.Phe275Val)not specified [RCV004485573]uncertain significance87073412570734125Humanname
405666448CV3349547single nucleotide variantNM_001011720.2(XKR9):c.919G>A (p.Val307Ile)not specified [RCV004485574]uncertain significance87073422170734221Humanname
407455922CV3488209single nucleotide variantNM_001011718.2(XKR7):c.860C>T (p.Ser287Leu)not specified [RCV004685750]uncertain significance203199657731996577Humanname
407455952CV3488221single nucleotide variantNM_001011720.2(XKR9):c.934A>G (p.Ile312Val)not specified [RCV004685761]uncertain significance87073423670734236Humanname
407455957CV3488223single nucleotide variantNM_001011720.2(XKR9):c.536C>G (p.Thr179Ser)not specified [RCV004685763]uncertain significance87073383870733838Humanname
407455959CV3488224single nucleotide variantNM_001011720.2(XKR9):c.488G>T (p.Ser163Ile)not specified [RCV004685764]uncertain significance87070714870707148Humanname
597804528CV3634164single nucleotide variantNM_001386955.1(XKR3):c.619G>A (p.Val207Ile)not specified [RCV004882300]uncertain significance221678438016784380Humanname
597804530CV3634165single nucleotide variantNM_001386955.1(XKR3):c.979C>A (p.Leu327Met)not specified [RCV004882301]uncertain significance221678402016784020Humanname
597804532CV3634167single nucleotide variantNM_001386955.1(XKR3):c.772G>A (p.Ala258Thr)not specified [RCV004882302]uncertain significance221678422716784227Humanname
597804534CV3634168single nucleotide variantNM_001386955.1(XKR3):c.601A>G (p.Thr201Ala)not specified [RCV004882303]uncertain significance221678439816784398Humanname
597804594CV3634208single nucleotide variantNM_001011718.2(XKR7):c.689T>A (p.Met230Lys)not specified [RCV004882333]uncertain significance203199517231995172Humanname
597751416CV3634209single nucleotide variantNM_001011718.2(XKR7):c.388A>G (p.Lys130Glu)not specified [RCV004892774]uncertain significance203196856331968563Humanname
597804599CV3634214single nucleotide variantNM_001011718.2(XKR7):c.719G>C (p.Ser240Thr)not specified [RCV004882335]uncertain significance203199520231995202Humanname
597804617CV3634227single nucleotide variantNM_001011720.2(XKR9):c.455A>G (p.Tyr152Cys)not specified [RCV004882344]uncertain significance87070711570707115Humanname
597804621CV3634229single nucleotide variantNM_001011720.2(XKR9):c.890G>A (p.Gly297Asp)not specified [RCV004882346]uncertain significance87073419270734192Humanname
597804623CV3634230single nucleotide variantNM_001011720.2(XKR9):c.856C>T (p.Pro286Ser)not specified [RCV004882347]uncertain significance87073415870734158Humanname
598275743CV3933636single nucleotide variantNM_001386955.1(XKR3):c.890A>T (p.Asn297Ile)not specified [RCV005304877]uncertain significance221678410916784109Humanname
598182934CV3933637single nucleotide variantNM_001386955.1(XKR3):c.350T>C (p.Ile117Thr)not specified [RCV005311320]uncertain significance221680001016800010Humanname
598183045CV3933676single nucleotide variantNM_001011718.2(XKR7):c.452A>C (p.Lys151Thr)not specified [RCV005311338]uncertain significance203196862731968627Humanname
598275766CV3933678single nucleotide variantNM_001011718.2(XKR7):c.327C>G (p.Phe109Leu)not specified [RCV005304900]uncertain significance203196850231968502Humanname
598275771CV3933684single nucleotide variantNM_001011720.2(XKR9):c.362A>C (p.His121Pro)not specified [RCV005304905]uncertain significance87070702270707022Humanname
598275772CV3933685single nucleotide variantNM_001011720.2(XKR9):c.704T>C (p.Leu235Ser)not specified [RCV005304906]uncertain significance87073400670734006Humanname
15129695CV711626single nucleotide variantNM_001011720.2(XKR9):c.547C>T (p.Gln183Ter)not provided [RCV000964301]benign87073384970733849Humanname
8626607CV81751single nucleotide variantNM_001011720.1(XKR9):c.816C>G (p.Ile272Met)Malignant melanoma [RCV000061829]not provided87073411870734118Humanname
156135431CV2245589single nucleotide variantNM_001011718.2(XKR7):c.1451G>A (p.Arg484Gln)not specified [RCV004109665]uncertain significance203199716831997168Humanname
156016992CV2266574single nucleotide variantNM_001386955.1(XKR3):c.1255G>A (p.Ala419Thr)not specified [RCV004131124]uncertain significance221678374416783744Humanname
155927104CV2285061single nucleotide variantNM_001386955.1(XKR3):c.1270G>A (p.Val424Ile)not specified [RCV004145299]uncertain significance221678372916783729Humanname
156274747CV2293889single nucleotide variantNM_001011720.2(XKR9):c.1000C>T (p.Leu334Phe)not specified [RCV004155145]uncertain significance87073430270734302Humanname
156089249CV2295576single nucleotide variantNM_001011718.2(XKR7):c.1250T>C (p.Met417Thr)not specified [RCV004160667]uncertain significance203199696731996967Humanname
156306553CV2335214single nucleotide variantNM_001386955.1(XKR3):c.1165G>T (p.Ala389Ser)not specified [RCV004186787]uncertain significance221678383416783834Humanname
156305040CV2338618single nucleotide variantNM_001011718.2(XKR7):c.1691G>C (p.Arg564Pro)not specified [RCV004182203]uncertain significance203199740831997408Humanname
155931338CV2370893single nucleotide variantNM_001011718.2(XKR7):c.1673C>T (p.Thr558Met)not specified [RCV004218627]uncertain significance203199739031997390Humanname
329381933CV2424270single nucleotide variantNM_001011718.2(XKR7):c.1466C>T (p.Ala489Val)not specified [RCV004252181]uncertain significance203199718331997183Humanname
401766161CV2679591single nucleotide variantNM_001011718.2(XKR7):c.1310G>A (p.Cys437Tyr)not specified [RCV004282072]uncertain significance203199702731997027Humanname
401781244CV2681942single nucleotide variantNM_001011718.2(XKR7):c.1679G>A (p.Arg560Gln)not specified [RCV004296929]uncertain significance203199739631997396Humanname
401759093CV2712407single nucleotide variantNM_001011718.2(XKR7):c.1231G>A (p.Asp411Asn)not specified [RCV004313880]uncertain significance203199694831996948Humanname
401862273CV2775201single nucleotide variantNM_001011718.2(XKR7):c.1122C>A (p.Asn374Lys)not specified [RCV004346544]uncertain significance203199683931996839Humanname
405666340CV3349524single nucleotide variantNM_001011718.2(XKR7):c.1541G>A (p.Arg514His)not specified [RCV004485551]uncertain significance203199725831997258Humanname
407455935CV3488214single nucleotide variantNM_001011718.2(XKR7):c.1268C>T (p.Ser423Phe)not specified [RCV004685755]uncertain significance203199698531996985Humanname
597804588CV3634204single nucleotide variantNM_001011718.2(XKR7):c.1449G>T (p.Glu483Asp)not specified [RCV004882330]uncertain significance203199716631997166Humanname
597804592CV3634206single nucleotide variantNM_001011718.2(XKR7):c.1484C>T (p.Thr495Ile)not specified [RCV004882332]uncertain significance203199720131997201Humanname
597751421CV3634210single nucleotide variantNM_001011718.2(XKR7):c.1148G>T (p.Arg383Leu)not specified [RCV004892775]uncertain significance203199686531996865Humanname
597804597CV3634212single nucleotide variantNM_001011718.2(XKR7):c.1361T>C (p.Ile454Thr)not specified [RCV004882334]uncertain significance203199707831997078Humanname
597751432CV3634213single nucleotide variantNM_001011718.2(XKR7):c.1693A>C (p.Ser565Arg)not specified [RCV004892777]uncertain significance203199741031997410Humanname
597804601CV3634215single nucleotide variantNM_001011718.2(XKR7):c.1135C>T (p.Arg379Cys)not specified [RCV004882336]uncertain significance203199685231996852Humanname
597751438CV3634216single nucleotide variantNM_001011718.2(XKR7):c.1388G>A (p.Gly463Asp)not specified [RCV004892778]uncertain significance203199710531997105Humanname
597804619CV3634228single nucleotide variantNM_001011720.2(XKR9):c.1097G>A (p.Arg366Lys)not specified [RCV004882345]uncertain significance87073439970734399Humanname
598182929CV3933634single nucleotide variantNM_001386955.1(XKR3):c.1207T>C (p.Trp403Arg)not specified [RCV005311319]uncertain significance221678379216783792Humanname
598275767CV3933679single nucleotide variantNM_001011718.2(XKR7):c.1372G>C (p.Ala458Pro)not specified [RCV005304901]uncertain significance203199708931997089Humanname
598275768CV3933680single nucleotide variantNM_001011718.2(XKR7):c.1198G>A (p.Gly400Ser)not specified [RCV005304902]uncertain significance203199691531996915Humanname
15174234CV679156single nucleotide variantNM_001011718.2(XKR7):c.1025G>A (p.Trp342Ter)Esophageal atresia [RCV000984774]uncertain significance203199674231996742Human1name
40815126CV970350single nucleotide variantNM_001011718.2(XKR7):c.1475G>A (p.Arg492His)Moyamoya angiopathy [RCV004704501]likely pathogenic203199719231997192Humanname