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175 records found for search term Chpf
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405662082CV3297190single nucleotide variantNM_024536.6(CHPF):c.43C>A (p.Pro15Thr)not specified [RCV004439387]uncertain significance2219543496219543496Humanname
407455590CV3422781single nucleotide variantNM_024536.6(CHPF):c.29T>G (p.Leu10Arg)not specified [RCV004610409]uncertain significance2219543510219543510Humanname
156248634CV2222018single nucleotide variantNM_024536.6(CHPF):c.170A>G (p.Asn57Ser)not specified [RCV004103007]uncertain significance2219543369219543369Humanname
405662077CV3297188single nucleotide variantNM_024536.6(CHPF):c.229G>C (p.Gly77Arg)not specified [RCV004439385]uncertain significance2219543310219543310Humanname
597770002CV3653243single nucleotide variantNM_024536.6(CHPF):c.182G>C (p.Arg61Pro)not specified [RCV004896845]uncertain significance2219543357219543357Humanname
15153496CV708069single nucleotide variantNM_024536.6(CHPF):c.2097G>A (p.Glu699=)not provided [RCV000968554]benign2219539614219539614Humanname
15183746CV708070single nucleotide variantNM_024536.6(CHPF):c.142T>C (p.Ser48Pro)not provided [RCV000974948]benign2219543397219543397Humanname
156051889CV2328985single nucleotide variantNM_024536.6(CHPF):c.707A>G (p.Glu236Gly)not specified [RCV004180277]uncertain significance2219541797219541797Humanname
401860235CV2768522single nucleotide variantNM_024536.6(CHPF):c.947C>T (p.Pro316Leu)not specified [RCV004344400]likely benign2219541067219541067Humanname
405662079CV3297189single nucleotide variantNM_024536.6(CHPF):c.409G>T (p.Val137Leu)not specified [RCV004439386]uncertain significance2219542095219542095Humanname
405662085CV3297191single nucleotide variantNM_024536.6(CHPF):c.668A>G (p.His223Arg)not specified [RCV004439388]uncertain significance2219541836219541836Humanname
405662087CV3297192single nucleotide variantNM_024536.6(CHPF):c.715C>G (p.Pro239Ala)not specified [RCV004439389]uncertain significance2219541789219541789Humanname
407455585CV3422779single nucleotide variantNM_024536.6(CHPF):c.640G>C (p.Gly214Arg)not specified [RCV004610407]uncertain significance2219541864219541864Humanname
407455593CV3422782single nucleotide variantNM_024536.6(CHPF):c.956G>A (p.Arg319Gln)not specified [RCV004610410]uncertain significance2219541058219541058Humanname
407455596CV3422783single nucleotide variantNM_024536.6(CHPF):c.521T>C (p.Ile174Thr)not specified [RCV004610411]uncertain significance2219541983219541983Humanname
597769997CV3653242single nucleotide variantNM_024536.6(CHPF):c.853G>A (p.Asp285Asn)not specified [RCV004896844]uncertain significance2219541651219541651Humanname
597770010CV3653245single nucleotide variantNM_024536.6(CHPF):c.857C>T (p.Ala286Val)not specified [RCV004896847]uncertain significance2219541647219541647Humanname
597770020CV3653247single nucleotide variantNM_024536.6(CHPF):c.718G>A (p.Gly240Ser)not specified [RCV004896849]uncertain significance2219541786219541786Humanname
156263686CV2201185single nucleotide variantNM_024536.6(CHPF):c.1129G>A (p.Val377Met)not specified [RCV004077332]uncertain significance2219540582219540582Humanname
156381426CV2214940single nucleotide variantNM_024536.6(CHPF):c.1021G>A (p.Ala341Thr)not specified [RCV004084724]uncertain significance2219540993219540993Humanname
155939188CV2225373single nucleotide variantNM_024536.6(CHPF):c.1843G>A (p.Gly615Arg)not specified [RCV004100790]uncertain significance2219539868219539868Humanname
156382259CV2227267single nucleotide variantNM_024536.6(CHPF):c.1448G>A (p.Arg483His)not specified [RCV004091836]uncertain significance2219540263219540263Humanname
156250200CV2232144single nucleotide variantNM_024536.6(CHPF):c.2092G>A (p.Glu698Lys)not specified [RCV004104955]uncertain significance2219539619219539619Humanname
156065444CV2240295single nucleotide variantNM_024536.6(CHPF):c.1693C>T (p.Pro565Ser)not specified [RCV004112854]uncertain significance2219540018219540018Humanname
156105632CV2257216single nucleotide variantNM_024536.6(CHPF):c.1911G>C (p.Gln637His)not specified [RCV004123424]uncertain significance2219539800219539800Humanname
155925918CV2258653single nucleotide variantNM_024536.6(CHPF):c.1433G>A (p.Arg478His)not specified [RCV004117907]uncertain significance2219540278219540278Humanname
155973528CV2269846single nucleotide variantNM_024536.6(CHPF):c.1742G>A (p.Arg581Gln)not specified [RCV004127078]uncertain significance2219539969219539969Humanname
156251157CV2286807single nucleotide variantNM_024536.6(CHPF):c.1616C>T (p.Ala539Val)not specified [RCV004142610]uncertain significance2219540095219540095Humanname
155943050CV2298423single nucleotide variantNM_024536.6(CHPF):c.1028C>G (p.Ala343Gly)not specified [RCV004162096]uncertain significance2219540986219540986Humanname
156157115CV2359920single nucleotide variantNM_024536.6(CHPF):c.1520G>A (p.Arg507His)not specified [RCV004212766]uncertain significance2219540191219540191Humanname
156336174CV2360689single nucleotide variantNM_024536.6(CHPF):c.2098G>A (p.Glu700Lys)not specified [RCV004213482]uncertain significance2219539613219539613Humanname
155910721CV2366612single nucleotide variantNM_024536.6(CHPF):c.1270G>A (p.Asp424Asn)not specified [RCV004210626]uncertain significance2219540441219540441Humanname
156256775CV2368773single nucleotide variantNM_024536.6(CHPF):c.1556G>A (p.Arg519His)not specified [RCV004214650]uncertain significance2219540155219540155Humanname
155929305CV2369708single nucleotide variantNM_024536.6(CHPF):c.2314G>A (p.Gly772Ser)not specified [RCV004215107]uncertain significance2219539397219539397Humanname
156389055CV2376340single nucleotide variantNM_024536.6(CHPF):c.1292A>G (p.Glu431Gly)not specified [RCV004222600]uncertain significance2219540419219540419Humanname
156205976CV2385272single nucleotide variantNM_024536.6(CHPF):c.2189G>A (p.Arg730His)not specified [RCV004228513]uncertain significance2219539522219539522Humanname
156254749CV2397578single nucleotide variantNM_024536.6(CHPF):c.2092G>C (p.Glu698Gln)not specified [RCV004237039]uncertain significance2219539619219539619Humanname
329376198CV2431763single nucleotide variantNM_024536.6(CHPF):c.1073A>G (p.Glu358Gly)not specified [RCV004248924]uncertain significance2219540638219540638Humanname
329354003CV2436761single nucleotide variantNM_024536.6(CHPF):c.1727G>A (p.Arg576His)not specified [RCV004260171]uncertain significance2219539984219539984Humanname
329389143CV2448763single nucleotide variantNM_024536.6(CHPF):c.1667G>A (p.Arg556His)not specified [RCV004261460]uncertain significance2219540044219540044Humanname
329379043CV2460123single nucleotide variantNM_024536.6(CHPF):c.1465C>T (p.Arg489Trp)not specified [RCV004273232]uncertain significance2219540246219540246Humanname
401751734CV2672559single nucleotide variantNM_024536.6(CHPF):c.2086G>C (p.Glu696Gln)not specified [RCV004287592]uncertain significance2219539625219539625Humanname
401743505CV2674681single nucleotide variantNM_024536.6(CHPF):c.1694C>T (p.Pro565Leu)not specified [RCV004293974]uncertain significance2219540017219540017Humanname
401768962CV2686450single nucleotide variantNM_024536.6(CHPF):c.2212G>A (p.Ala738Thr)not specified [RCV004290608]uncertain significance2219539499219539499Humanname
401728823CV2693855single nucleotide variantNM_024536.6(CHPF):c.1447C>T (p.Arg483Cys)not specified [RCV004300161]uncertain significance2219540264219540264Humanname
401893041CV2758417single nucleotide variantNM_024536.6(CHPF):c.1880G>A (p.Arg627His)not specified [RCV004335074]uncertain significance2219539831219539831Humanname
401893072CV2762806single nucleotide variantNM_024536.6(CHPF):c.1058A>G (p.Gln353Arg)not specified [RCV004340357]uncertain significance2219540956219540956Humanname
401870700CV2766275single nucleotide variantNM_024536.6(CHPF):c.1654C>T (p.Arg552Cys)not specified [RCV004342531]uncertain significance2219540057219540057Humanname
401868193CV2767166single nucleotide variantNM_024536.6(CHPF):c.1478G>A (p.Arg493His)not specified [RCV004347562]uncertain significance2219540233219540233Humanname
401872661CV2779848single nucleotide variantNM_024536.6(CHPF):c.1025G>A (p.Arg342Gln)not specified [RCV004353468]uncertain significance2219540989219540989Humanname
401888384CV2788431single nucleotide variantNM_024536.6(CHPF):c.2131T>A (p.Phe711Ile)not specified [RCV004354957]uncertain significance2219539580219539580Humanname
405662031CV3297173single nucleotide variantNM_024536.6(CHPF):c.1178G>A (p.Arg393His)not specified [RCV004439370]uncertain significance2219540533219540533Humanname
405662035CV3297174single nucleotide variantNM_024536.6(CHPF):c.1232G>A (p.Arg411His)not specified [RCV004439371]uncertain significance2219540479219540479Humanname
405662037CV3297175single nucleotide variantNM_024536.6(CHPF):c.1324C>T (p.Arg442Trp)not specified [RCV004439372]uncertain significance2219540387219540387Humanname
405662047CV3297178single nucleotide variantNM_024536.6(CHPF):c.1926G>A (p.Met642Ile)not specified [RCV004439375]uncertain significance2219539785219539785Humanname
405662050CV3297179single nucleotide variantNM_024536.6(CHPF):c.2026G>A (p.Glu676Lys)not specified [RCV004439376]uncertain significance2219539685219539685Humanname
405662057CV3297181single nucleotide variantNM_024536.6(CHPF):c.2095G>C (p.Glu699Gln)not specified [RCV004439378]uncertain significance2219539616219539616Humanname
405662060CV3297182single nucleotide variantNM_024536.6(CHPF):c.2099A>T (p.Glu700Val)not specified [RCV004439379]uncertain significance2219539612219539612Humanname
405662063CV3297183single nucleotide variantNM_024536.6(CHPF):c.2134C>T (p.Leu712Phe)not specified [RCV004439380]uncertain significance2219539577219539577Humanname
405662064CV3297184single nucleotide variantNM_024536.6(CHPF):c.2146A>G (p.Ser716Gly)not specified [RCV004439381]likely benign2219539565219539565Humanname
405662067CV3297185single nucleotide variantNM_024536.6(CHPF):c.2165C>T (p.Ala722Val)not specified [RCV004439382]uncertain significance2219539546219539546Humanname
405662073CV3297187single nucleotide variantNM_024536.6(CHPF):c.2279C>A (p.Thr760Asn)not specified [RCV004439384]uncertain significance2219539432219539432Humanname
407455583CV3422778single nucleotide variantNM_024536.6(CHPF):c.1946C>G (p.Pro649Arg)not specified [RCV004610406]uncertain significance2219539765219539765Humanname
407455598CV3422784single nucleotide variantNM_024536.6(CHPF):c.1612G>A (p.Asp538Asn)not specified [RCV004610412]uncertain significance2219540099219540099Humanname
407455600CV3422785single nucleotide variantNM_024536.6(CHPF):c.2194C>T (p.Arg732Trp)not specified [RCV004610413]uncertain significance2219539517219539517Humanname
407455603CV3422786single nucleotide variantNM_024536.6(CHPF):c.2221A>G (p.Ser741Gly)not specified [RCV004610414]uncertain significance2219539490219539490Humanname
407455606CV3422787single nucleotide variantNM_024536.6(CHPF):c.2234A>C (p.Tyr745Ser)not specified [RCV004610415]uncertain significance2219539477219539477Humanname
597770365CV3653240single nucleotide variantNM_024536.6(CHPF):c.1099G>A (p.Val367Ile)not specified [RCV004896842]likely benign2219540612219540612Humanname
597770007CV3653244single nucleotide variantNM_024536.6(CHPF):c.2240G>A (p.Arg747His)not specified [RCV004896846]uncertain significance2219539471219539471Humanname
597770016CV3653246single nucleotide variantNM_024536.6(CHPF):c.1853C>T (p.Thr618Met)not specified [RCV004896848]uncertain significance2219539858219539858Humanname
597770025CV3653248single nucleotide variantNM_024536.6(CHPF):c.1886G>A (p.Arg629His)not specified [RCV004896850]uncertain significance2219539825219539825Humanname
598214924CV3951671single nucleotide variantNM_024536.6(CHPF):c.1525A>G (p.Thr509Ala)not specified [RCV005316657]uncertain significance2219540186219540186Humanname
598214932CV3951672single nucleotide variantNM_024536.6(CHPF):c.2276G>A (p.Arg759Gln)not specified [RCV005316658]uncertain significance2219539435219539435Humanname
598214936CV3951673single nucleotide variantNM_024536.6(CHPF):c.1151G>A (p.Arg384His)not specified [RCV005316659]uncertain significance2219540560219540560Humanname
598214943CV3951674single nucleotide variantNM_024536.6(CHPF):c.1306C>T (p.Arg436Cys)not specified [RCV005316660]uncertain significance2219540405219540405Humanname
598214956CV3951676single nucleotide variantNM_024536.6(CHPF):c.1775C>G (p.Pro592Arg)not specified [RCV005316662]uncertain significance2219539936219539936Humanname
598214963CV3951677single nucleotide variantNM_024536.6(CHPF):c.2053G>C (p.Val685Leu)not specified [RCV005316663]uncertain significance2219539658219539658Humanname
598264395CV3951678single nucleotide variantNM_024536.6(CHPF):c.1184A>G (p.Asp395Gly)not specified [RCV005326121]uncertain significance2219540527219540527Humanname
598214969CV3951679single nucleotide variantNM_024536.6(CHPF):c.1024C>G (p.Arg342Gly)not specified [RCV005316664]uncertain significance2219540990219540990Humanname
598214975CV3951680single nucleotide variantNM_024536.6(CHPF):c.2240G>T (p.Arg747Leu)not specified [RCV005316665]uncertain significance2219539471219539471Humanname
155976284CV2338582single nucleotide variantNM_019015.3(CHPF2):c.5G>A (p.Arg2Gln)not specified [RCV004182174]uncertain significance7151234016151234016Humanname
401923934CV2823354single nucleotide variantNM_019015.3(CHPF2):c.246C>T (p.Pro82=)not provided [RCV003435308]likely benign7151234257151234257Humanname
401923932CV2823355single nucleotide variantNM_019015.3(CHPF2):c.909C>T (p.Phe303=)not provided [RCV003435309]likely benign7151236488151236488Humanname
407455614CV3422791single nucleotide variantNM_019015.3(CHPF2):c.35C>A (p.Pro12Gln)not specified [RCV004610419]uncertain significance7151234046151234046Humanname
329358167CV2453920single nucleotide variantNM_019015.3(CHPF2):c.137T>C (p.Val46Ala)not specified [RCV004271305]uncertain significance7151234148151234148Humanname
401719965CV2705589single nucleotide variantNM_019015.3(CHPF2):c.175G>A (p.Ala59Thr)not specified [RCV004318453]likely benign7151234186151234186Humanname
401772746CV2712888single nucleotide variantNM_019015.3(CHPF2):c.295C>T (p.Arg99Cys)not specified [RCV004314294]uncertain significance7151235079151235079Humanname
401888832CV2764971single nucleotide variantNM_019015.3(CHPF2):c.130G>C (p.Glu44Gln)not specified [RCV004335050]uncertain significance7151234141151234141Humanname
401909147CV2823356single nucleotide variantNM_019015.3(CHPF2):c.1221G>A (p.Leu407=)not provided [RCV003423836]likely benign7151237583151237583Humanname
405662114CV3297201single nucleotide variantNM_019015.3(CHPF2):c.178C>T (p.Arg60Trp)not specified [RCV004439398]uncertain significance7151234189151234189Humanname
407455607CV3422788single nucleotide variantNM_019015.3(CHPF2):c.240C>A (p.Asn80Lys)not specified [RCV004610416]uncertain significance7151234251151234251Humanname
597770044CV3653252single nucleotide variantNM_019015.3(CHPF2):c.268C>T (p.Arg90Trp)not specified [RCV004896854]uncertain significance7151235052151235052Humanname
597770370CV3653267single nucleotide variantNM_019015.3(CHPF2):c.211C>T (p.Arg71Trp)not specified [RCV004896868]uncertain significance7151234222151234222Humanname
598264404CV3951685single nucleotide variantNM_019015.3(CHPF2):c.221C>T (p.Pro74Leu)not specified [RCV005326123]uncertain significance7151234232151234232Humanname
156316938CV2193127single nucleotide variantNM_019015.3(CHPF2):c.661C>T (p.Arg221Trp)not specified [RCV004071130]uncertain significance7151235445151235445Humanname
156397939CV2193989single nucleotide variantNM_019015.3(CHPF2):c.808G>A (p.Gly270Ser)not specified [RCV004074712]uncertain significance7151235592151235592Humanname
156033786CV2211620single nucleotide variantNM_019015.3(CHPF2):c.340T>C (p.Ser114Pro)not specified [RCV004084514]uncertain significance7151235124151235124Humanname
156224933CV2229932single nucleotide variantNM_019015.3(CHPF2):c.668G>C (p.Cys223Ser)not specified [RCV004105473]uncertain significance7151235452151235452Humanname
156079579CV2248547single nucleotide variantNM_019015.3(CHPF2):c.531G>T (p.Trp177Cys)not specified [RCV004119671]uncertain significance7151235315151235315Humanname
156038666CV2313662single nucleotide variantNM_019015.3(CHPF2):c.569C>T (p.Pro190Leu)not specified [RCV004157593]uncertain significance7151235353151235353Humanname
156079111CV2341233single nucleotide variantNM_019015.3(CHPF2):c.641T>C (p.Ile214Thr)not specified [RCV004186647]uncertain significance7151235425151235425Humanname
156169608CV2354801single nucleotide variantNM_019015.3(CHPF2):c.511T>G (p.Phe171Val)not specified [RCV004198328]uncertain significance7151235295151235295Humanname
156393009CV2385567single nucleotide variantNM_019015.3(CHPF2):c.652G>A (p.Glu218Lys)not specified [RCV004233206]uncertain significance7151235436151235436Humanname
156320190CV2400320single nucleotide variantNM_019015.3(CHPF2):c.662G>A (p.Arg221Gln)not specified [RCV004244379]uncertain significance7151235446151235446Humanname
329373845CV2447436single nucleotide variantNM_019015.3(CHPF2):c.866G>C (p.Arg289Thr)not specified [RCV004262710]uncertain significance7151236445151236445Humanname
401746535CV2678861single nucleotide variantNM_019015.3(CHPF2):c.781C>T (p.Arg261Cys)not specified [RCV004292839]uncertain significance7151235565151235565Humanname
401874105CV2757831single nucleotide variantNM_019015.3(CHPF2):c.352G>A (p.Val118Met)not specified [RCV004336978]uncertain significance7151235136151235136Humanname
401883791CV2764653single nucleotide variantNM_019015.3(CHPF2):c.791T>C (p.Ile264Thr)not specified [RCV004341456]uncertain significance7151235575151235575Humanname
401877061CV2767812single nucleotide variantNM_019015.3(CHPF2):c.641T>A (p.Ile214Asn)not specified [RCV004345932]uncertain significance7151235425151235425Humanname
405662116CV3297202single nucleotide variantNM_019015.3(CHPF2):c.413G>T (p.Arg138Leu)not specified [RCV004439399]uncertain significance7151235197151235197Humanname
405662118CV3297203single nucleotide variantNM_019015.3(CHPF2):c.512T>C (p.Phe171Ser)not specified [RCV004439400]uncertain significance7151235296151235296Humanname
405662122CV3297204single nucleotide variantNM_019015.3(CHPF2):c.521A>G (p.Asp174Gly)not specified [RCV004439401]uncertain significance7151235305151235305Humanname
405662125CV3297205single nucleotide variantNM_019015.3(CHPF2):c.646G>A (p.Ala216Thr)not specified [RCV004439402]uncertain significance7151235430151235430Humanname
405662128CV3297206single nucleotide variantNM_019015.3(CHPF2):c.719G>A (p.Arg240Gln)not specified [RCV004439403]uncertain significance7151235503151235503Humanname
405662131CV3297207single nucleotide variantNM_019015.3(CHPF2):c.809G>A (p.Gly270Asp)not specified [RCV004439404]uncertain significance7151235593151235593Humanname
407455617CV3422792single nucleotide variantNM_019015.3(CHPF2):c.790A>C (p.Ile264Leu)not specified [RCV004610420]uncertain significance7151235574151235574Humanname
407455622CV3422794single nucleotide variantNM_019015.3(CHPF2):c.310G>A (p.Val104Met)not specified [RCV004610422]uncertain significance7151235094151235094Humanname
407455624CV3422795single nucleotide variantNM_019015.3(CHPF2):c.769G>A (p.Glu257Lys)not specified [RCV004610423]uncertain significance7151235553151235553Humanname
597770039CV3653251single nucleotide variantNM_019015.3(CHPF2):c.845C>T (p.Ser282Leu)not specified [RCV004896853]uncertain significance7151236424151236424Humanname
597770062CV3653256single nucleotide variantNM_019015.3(CHPF2):c.842G>A (p.Arg281His)not specified [RCV004896858]uncertain significance7151236421151236421Humanname
597770067CV3653257single nucleotide variantNM_019015.3(CHPF2):c.412C>T (p.Arg138Trp)not specified [RCV004896859]uncertain significance7151235196151235196Humanname
597770072CV3653258single nucleotide variantNM_019015.3(CHPF2):c.940A>G (p.Met314Val)not specified [RCV004896860]uncertain significance7151236519151236519Humanname
597770077CV3653259single nucleotide variantNM_019015.3(CHPF2):c.781C>A (p.Arg261Ser)not specified [RCV004896861]uncertain significance7151235565151235565Humanname
597770091CV3653263single nucleotide variantNM_019015.3(CHPF2):c.697C>T (p.Arg233Trp)not specified [RCV004896864]uncertain significance7151235481151235481Humanname
598214980CV3951681single nucleotide variantNM_019015.3(CHPF2):c.348G>C (p.Leu116Phe)not specified [RCV005316666]uncertain significance7151235132151235132Humanname
598214997CV3951686single nucleotide variantNM_019015.3(CHPF2):c.494G>A (p.Arg165His)not specified [RCV005316669]uncertain significance7151235278151235278Humanname
15191145CV699945single nucleotide variantNM_019015.3(CHPF2):c.761G>A (p.Arg254His)not provided [RCV000954689]benign7151235545151235545Humanname
156166957CV2200968single nucleotide variantNM_019015.3(CHPF2):c.2053C>T (p.Arg685Trp)not specified [RCV004074738]uncertain significance7151238415151238415Humanname
156317598CV2204013single nucleotide variantNM_019015.3(CHPF2):c.1607G>A (p.Arg536His)not specified [RCV004070052]uncertain significance7151237969151237969Humanname
155917320CV2236524single nucleotide variantNM_019015.3(CHPF2):c.1319G>A (p.Arg440Gln)not specified [RCV004110521]uncertain significance7151237681151237681Humanname
156096200CV2253101single nucleotide variantNM_019015.3(CHPF2):c.1055C>G (p.Ala352Gly)not specified [RCV004120885]uncertain significance7151237417151237417Humanname
156039157CV2261187single nucleotide variantNM_019015.3(CHPF2):c.2293G>C (p.Glu765Gln)not specified [RCV004128073]uncertain significance7151238655151238655Humanname
156045754CV2268624single nucleotide variantNM_019015.3(CHPF2):c.2192G>A (p.Arg731Gln)not specified [RCV004124032]uncertain significance7151238554151238554Humanname
156268044CV2296767single nucleotide variantNM_019015.3(CHPF2):c.2287C>G (p.Leu763Val)not specified [RCV004148667]uncertain significance7151238649151238649Humanname
156269975CV2305945single nucleotide variantNM_019015.3(CHPF2):c.1489G>A (p.Val497Met)not specified [RCV004167723]uncertain significance7151237851151237851Humanname
156243685CV2312915single nucleotide variantNM_019015.3(CHPF2):c.1250G>A (p.Arg417His)not specified [RCV004159428]uncertain significance7151237612151237612Humanname
156281480CV2321876single nucleotide variantNM_019015.3(CHPF2):c.2261G>A (p.Gly754Glu)not specified [RCV004179852]uncertain significance7151238623151238623Humanname
156228374CV2352902single nucleotide variantNM_019015.3(CHPF2):c.1301G>A (p.Arg434Gln)not specified [RCV004200949]uncertain significance7151237663151237663Humanname
156073657CV2365467single nucleotide variantNM_019015.3(CHPF2):c.1246C>T (p.Arg416Trp)not specified [RCV004209540]uncertain significance7151237608151237608Humanname
156162213CV2371673single nucleotide variantNM_019015.3(CHPF2):c.2152C>T (p.Arg718Trp)not specified [RCV004216911]uncertain significance7151238514151238514Humanname
156188163CV2375296single nucleotide variantNM_019015.3(CHPF2):c.1114G>T (p.Val372Leu)not specified [RCV004232704]uncertain significance7151237476151237476Humanname
156205290CV2385187single nucleotide variantNM_019015.3(CHPF2):c.1730T>C (p.Met577Thr)not specified [RCV004228438]uncertain significance7151238092151238092Humanname
156266573CV2389192single nucleotide variantNM_019015.3(CHPF2):c.1022G>A (p.Arg341Gln)not specified [RCV004235518]uncertain significance7151237384151237384Humanname
156258961CV2395434single nucleotide variantNM_019015.3(CHPF2):c.1880A>G (p.Asn627Ser)not specified [RCV004241306]uncertain significance7151238242151238242Humanname
329367669CV2427498single nucleotide variantNM_019015.3(CHPF2):c.1309G>A (p.Asp437Asn)not specified [RCV004250137]uncertain significance7151237671151237671Humanname
329386445CV2428316single nucleotide variantNM_019015.3(CHPF2):c.1823G>A (p.Arg608His)not specified [RCV004251338]uncertain significance7151238185151238185Humanname
329360805CV2439783single nucleotide variantNM_019015.3(CHPF2):c.1463G>A (p.Arg488Gln)not specified [RCV004255786]uncertain significance7151237825151237825Humanname
329374127CV2443671single nucleotide variantNM_019015.3(CHPF2):c.1966C>T (p.Arg656Trp)not specified [RCV004255975]uncertain significance7151238328151238328Humanname
401774397CV2691721single nucleotide variantNM_019015.3(CHPF2):c.1936C>G (p.Pro646Ala)not specified [RCV004299181]uncertain significance7151238298151238298Humanname
401736788CV2699599single nucleotide variantNM_019015.3(CHPF2):c.1298A>C (p.Tyr433Ser)not specified [RCV004299789]uncertain significance7151237660151237660Humanname
401884323CV2789649single nucleotide variantNM_019015.3(CHPF2):c.1351G>C (p.Glu451Gln)not specified [RCV004360247]uncertain significance7151237713151237713Humanname
405662090CV3297193single nucleotide variantNM_019015.3(CHPF2):c.1022G>T (p.Arg341Leu)not specified [RCV004439390]uncertain significance7151237384151237384Humanname
405662092CV3297194single nucleotide variantNM_019015.3(CHPF2):c.1207G>A (p.Val403Met)not specified [RCV004439391]uncertain significance7151237569151237569Humanname
405662095CV3297195single nucleotide variantNM_019015.3(CHPF2):c.1217C>T (p.Ala406Val)not specified [RCV004439392]uncertain significance7151237579151237579Humanname
405662098CV3297196single nucleotide variantNM_019015.3(CHPF2):c.1262G>A (p.Arg421His)not specified [RCV004439393]uncertain significance7151237624151237624Humanname
405662100CV3297197single nucleotide variantNM_019015.3(CHPF2):c.1324A>T (p.Met442Leu)not specified [RCV004439394]uncertain significance7151237686151237686Humanname
405662103CV3297198single nucleotide variantNM_019015.3(CHPF2):c.1365G>C (p.Gln455His)not specified [RCV004439395]uncertain significance7151237727151237727Humanname
405662106CV3297199single nucleotide variantNM_019015.3(CHPF2):c.1472T>C (p.Leu491Pro)not specified [RCV004439396]uncertain significance7151237834151237834Humanname
405662109CV3297200single nucleotide variantNM_019015.3(CHPF2):c.1588G>A (p.Gly530Arg)not specified [RCV004439397]uncertain significance7151237950151237950Humanname
407455612CV3422790single nucleotide variantNM_019015.3(CHPF2):c.1523A>C (p.Glu508Ala)not specified [RCV004610418]uncertain significance7151237885151237885Humanname
407455619CV3422793single nucleotide variantNM_019015.3(CHPF2):c.1880A>T (p.Asn627Ile)not specified [RCV004610421]uncertain significance7151238242151238242Humanname
597770029CV3653249single nucleotide variantNM_019015.3(CHPF2):c.1186C>G (p.Gln396Glu)not specified [RCV004896851]uncertain significance7151237548151237548Humanname
597770048CV3653253single nucleotide variantNM_019015.3(CHPF2):c.1300C>T (p.Arg434Trp)not specified [RCV004896855]uncertain significance7151237662151237662Humanname
597770052CV3653254single nucleotide variantNM_019015.3(CHPF2):c.1511C>T (p.Pro504Leu)not specified [RCV004896856]likely benign7151237873151237873Humanname
597770057CV3653255single nucleotide variantNM_019015.3(CHPF2):c.1895C>T (p.Pro632Leu)not specified [RCV004896857]uncertain significance7151238257151238257Humanname
597770087CV3653262single nucleotide variantNM_019015.3(CHPF2):c.1661G>A (p.Arg554Gln)not specified [RCV004896863]uncertain significance7151238023151238023Humanname
597770096CV3653264single nucleotide variantNM_019015.3(CHPF2):c.1703C>T (p.Ala568Val)not specified [RCV004896865]uncertain significance7151238065151238065Humanname
597770101CV3653265single nucleotide variantNM_019015.3(CHPF2):c.1972G>A (p.Ala658Thr)not specified [RCV004896866]uncertain significance7151238334151238334Humanname
597770106CV3653266single nucleotide variantNM_019015.3(CHPF2):c.1094C>T (p.Thr365Ile)not specified [RCV004896867]likely benign7151237456151237456Humanname
597770116CV3653268single nucleotide variantNM_019015.3(CHPF2):c.1247G>A (p.Arg416Gln)not specified [RCV004896869]uncertain significance7151237609151237609Humanname
597770120CV3653269single nucleotide variantNM_019015.3(CHPF2):c.1138G>A (p.Glu380Lys)not specified [RCV004896870]uncertain significance7151237500151237500Humanname
598214986CV3951682single nucleotide variantNM_019015.3(CHPF2):c.1784T>C (p.Val595Ala)not specified [RCV005316667]uncertain significance7151238146151238146Humanname
598264400CV3951683single nucleotide variantNM_019015.3(CHPF2):c.1760A>T (p.Asp587Val)not specified [RCV005326122]uncertain significance7151238122151238122Humanname
598215002CV3951687single nucleotide variantNM_019015.3(CHPF2):c.1256A>G (p.Gln419Arg)not specified [RCV005316670]uncertain significance7151237618151237618Humanname
15186368CV699946single nucleotide variantNM_019015.3(CHPF2):c.1379G>A (p.Arg460Gln)not provided [RCV000953261]benign|likely benign7151237741151237741Humanname