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50 records found for search term Xpnpep1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8651579CV128154single nucleotide variantNM_001167604.1(XPNPEP1):c.32+906C>TLung cancer [RCV000108641]uncertain significance10109922496109922496Humanname
8651578CV128153single nucleotide variantNM_001167604.1(XPNPEP1):c.32+1689A>GLung cancer [RCV000108640]uncertain significance10109921713109921713Humanname
407455990CV3488238single nucleotide variantNM_020383.4(XPNPEP1):c.85G>A (p.Glu29Lys)not specified [RCV004685776]uncertain significance10109915047109915047Humanname
598183113CV3933710single nucleotide variantNM_020383.4(XPNPEP1):c.45G>T (p.Gln15His)not specified [RCV005311349]uncertain significance10109915087109915087Humanname
329389132CV2467171single nucleotide variantNM_020383.4(XPNPEP1):c.267T>G (p.Cys89Trp)not specified [RCV004284992]uncertain significance10109893055109893055Humanname
401750758CV2712118single nucleotide variantNM_020383.4(XPNPEP1):c.235G>C (p.Asp79His)not specified [RCV004311847]uncertain significance10109907702109907702Humanname
401907773CV2809608single nucleotide variantNM_020383.4(XPNPEP1):c.1419A>G (p.Thr473=)not provided [RCV003422869]likely benign10109873400109873400Humanname
405666567CV3349570single nucleotide variantNM_020383.4(XPNPEP1):c.200C>G (p.Thr67Ser)not specified [RCV004485597]uncertain significance10109907737109907737Humanname
405666573CV3349571single nucleotide variantNM_020383.4(XPNPEP1):c.220A>G (p.Ile74Val)not specified [RCV004485598]uncertain significance10109907717109907717Humanname
598275785CV3933704single nucleotide variantNM_020383.4(XPNPEP1):c.124G>A (p.Gly42Ser)not specified [RCV005304919]likely benign10109907813109907813Humanname
598275786CV3933705single nucleotide variantNM_020383.4(XPNPEP1):c.176C>T (p.Ala59Val)not specified [RCV005304920]uncertain significance10109907761109907761Humanname
155920407CV2240357single nucleotide variantNM_020383.4(XPNPEP1):c.455G>A (p.Ser152Asn)not specified [RCV004117262]uncertain significance10109888556109888556Humanname
156256151CV2264782single nucleotide variantNM_020383.4(XPNPEP1):c.713T>C (p.Met238Thr)not specified [RCV004132757]uncertain significance10109886281109886281Humanname
155913072CV2341701single nucleotide variantNM_020383.4(XPNPEP1):c.815G>C (p.Gly272Ala)not specified [RCV004182620]uncertain significance10109884082109884082Humanname
401870514CV2762819single nucleotide variantNM_020383.4(XPNPEP1):c.849C>A (p.Asp283Glu)not specified [RCV004340369]uncertain significance10109882624109882624Humanname
405666578CV3349572single nucleotide variantNM_020383.4(XPNPEP1):c.340G>A (p.Ala114Thr)not specified [RCV004485599]uncertain significance10109891797109891797Humanname
405666582CV3349573single nucleotide variantNM_020383.4(XPNPEP1):c.547G>A (p.Gly183Ser)not specified [RCV004485600]uncertain significance10109888154109888154Humanname
405666586CV3349574single nucleotide variantNM_020383.4(XPNPEP1):c.680A>C (p.Asp227Ala)not specified [RCV004485601]uncertain significance10109886314109886314Humanname
407455992CV3488239single nucleotide variantNM_020383.4(XPNPEP1):c.812T>C (p.Ile271Thr)not specified [RCV004685777]uncertain significance10109884085109884085Humanname
597751481CV3630363single nucleotide variantNM_020383.4(XPNPEP1):c.860C>T (p.Ala287Val)not specified [RCV004892786]uncertain significance10109882613109882613Humanname
597751491CV3630365single nucleotide variantNM_020383.4(XPNPEP1):c.712A>C (p.Met238Leu)not specified [RCV004892788]uncertain significance10109886282109886282Humanname
597804642CV3630370single nucleotide variantNM_020383.4(XPNPEP1):c.905C>T (p.Ala302Val)not specified [RCV004882356]uncertain significance10109882568109882568Humanname
597804644CV3630371single nucleotide variantNM_020383.4(XPNPEP1):c.703A>T (p.Arg235Trp)not specified [RCV004882357]uncertain significance10109886291109886291Humanname
597804647CV3630372single nucleotide variantNM_020383.4(XPNPEP1):c.697G>T (p.Ala233Ser)not specified [RCV004882358]uncertain significance10109886297109886297Humanname
598183095CV3933706single nucleotide variantNM_020383.4(XPNPEP1):c.602G>A (p.Arg201His)not specified [RCV005311346]uncertain significance10109888099109888099Humanname
598275787CV3933708single nucleotide variantNM_020383.4(XPNPEP1):c.872A>G (p.Lys291Arg)not specified [RCV005304921]uncertain significance10109882601109882601Humanname
598183107CV3933709single nucleotide variantNM_020383.4(XPNPEP1):c.572A>G (p.Glu191Gly)not specified [RCV005311348]uncertain significance10109888129109888129Humanname
156242474CV2231431single nucleotide variantNM_020383.4(XPNPEP1):c.1966A>C (p.Ile656Leu)not specified [RCV004096510]uncertain significance10109865219109865219Humanname
156070586CV2251350single nucleotide variantNM_020383.4(XPNPEP1):c.1896C>A (p.His632Gln)not specified [RCV004115555]uncertain significance10109865289109865289Humanname
156288609CV2327425single nucleotide variantNM_020383.4(XPNPEP1):c.1924G>A (p.Glu642Lys)not specified [RCV004174846]uncertain significance10109865261109865261Humanname
155925555CV2365600single nucleotide variantNM_020383.4(XPNPEP1):c.1932G>T (p.Gln644His)not specified [RCV004212118]uncertain significance10109865253109865253Humanname
401719670CV2675653single nucleotide variantNM_020383.4(XPNPEP1):c.1735A>G (p.Ile579Val)not specified [RCV004287907]uncertain significance10109869991109869991Humanname
401740975CV2690335single nucleotide variantNM_020383.4(XPNPEP1):c.1501G>A (p.Val501Ile)not specified [RCV004302330]likely benign10109871813109871813Humanname
401777783CV2718334single nucleotide variantNM_020383.4(XPNPEP1):c.1322C>A (p.Pro441Gln)not specified [RCV004318170]uncertain significance10109875597109875597Humanname
401896690CV2791941single nucleotide variantNM_020383.4(XPNPEP1):c.1370T>C (p.Ile457Thr)not specified [RCV004359370]uncertain significance10109875549109875549Humanname
401870212CV2792309single nucleotide variantNM_020383.4(XPNPEP1):c.1057A>G (p.Met353Val)not specified [RCV004361490]uncertain significance10109880916109880916Humanname
405867180CV2842694single nucleotide variantNM_020383.4(XPNPEP1):c.1912G>A (p.Val638Met)EBV-positive nodal T- and NK-cell lymphoma [RCV004558051]likely benign10109865273109865273Humanname
405666538CV3349564single nucleotide variantNM_020383.4(XPNPEP1):c.1124G>A (p.Arg375Gln)not specified [RCV004485591]uncertain significance10109880849109880849Humanname
405666547CV3349566single nucleotide variantNM_020383.4(XPNPEP1):c.1420A>G (p.Met474Val)not specified [RCV004485593]uncertain significance10109873399109873399Humanname
405666553CV3349567single nucleotide variantNM_020383.4(XPNPEP1):c.1790G>A (p.Arg597Gln)not specified [RCV004485594]uncertain significance10109868696109868696Humanname
405666557CV3349568single nucleotide variantNM_020383.4(XPNPEP1):c.1845A>G (p.Ile615Met)not specified [RCV004485595]uncertain significance10109868641109868641Humanname
405666562CV3349569single nucleotide variantNM_020383.4(XPNPEP1):c.1916T>C (p.Ile639Thr)not specified [RCV004485596]uncertain significance10109865269109865269Humanname
407455984CV3488236single nucleotide variantNM_020383.4(XPNPEP1):c.1325T>G (p.Val442Gly)not specified [RCV004685774]uncertain significance10109875594109875594Humanname
407455987CV3488237single nucleotide variantNM_020383.4(XPNPEP1):c.1561G>A (p.Asp521Asn)not specified [RCV004685775]uncertain significance10109870866109870866Humanname
597751475CV3630362single nucleotide variantNM_020383.4(XPNPEP1):c.1289C>T (p.Thr430Met)not specified [RCV004892785]uncertain significance10109877820109877820Humanname
597751486CV3630364single nucleotide variantNM_020383.4(XPNPEP1):c.1907G>A (p.Arg636Lys)not specified [RCV004892787]uncertain significance10109865278109865278Humanname
597804638CV3630367single nucleotide variantNM_020383.4(XPNPEP1):c.1546C>T (p.Arg516Cys)not specified [RCV004882354]uncertain significance10109870881109870881Humanname
597804640CV3630368single nucleotide variantNM_020383.4(XPNPEP1):c.1214C>T (p.Ala405Val)not specified [RCV004882355]uncertain significance10109878027109878027Humanname
597751497CV3630369single nucleotide variantNM_020383.4(XPNPEP1):c.1809A>T (p.Glu603Asp)not specified [RCV004892789]uncertain significance10109868677109868677Humanname
8633487CV88702single nucleotide variantNM_001167604.1(XPNPEP1):c.562C>T (p.Pro188Ser)Malignant melanoma [RCV000068797]not provided10109888139109888139Humanname