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


443 records found for search term Bpi
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155984966CV2344474single nucleotide variantNM_001725.3(BPI):c.-6G>Anot specified [RCV004195218]uncertain significance203830421838304218Humanname
10449895CV215586single nucleotide variantNM_001725.3(BPI):c.933+6G>Anot specified [RCV000203068]uncertain significance203832405238324052Humanname
15164793CV731344single nucleotide variantNM_001725.3(BPI):c.664+7G>Tnot provided [RCV000882274]benign203831848338318483Humanname
8586430CV121032single nucleotide variantNM_001725.2(BPI):c.769-327G>ALung cancer [RCV000101552]uncertain significance203832354338323543Humanname
401885764CV2775082single nucleotide variantNM_001725.3(BPI):c.5C>A (p.Ala2Asp)not specified [RCV004346450]uncertain significance203830422838304228Humanname
12896987CV390456single nucleotide variantNM_001725.3(BPI):c.51G>C (p.Leu17=)not provided [RCV004717596]|not specified [RCV000456086]benign203830427438304274Humanname
15149679CV716963single nucleotide variantNM_001725.3(BPI):c.22G>A (p.Ala8Thr)not provided [RCV000967800]benign203830424538304245Humanname
15162921CV716964single nucleotide variantNM_001725.3(BPI):c.23C>T (p.Ala8Val)not provided [RCV000970370]benign203830424638304246Humanname
156280868CV2206451single nucleotide variantNM_001725.3(BPI):c.77C>T (p.Ala26Val)not specified [RCV004078769]uncertain significance203830430038304300Humanname
401776490CV2703250single nucleotide variantNM_001725.3(BPI):c.61G>A (p.Gly21Ser)not specified [RCV004315616]uncertain significance203830428438304284Humanname
401890595CV2778243single nucleotide variantNM_001725.3(BPI):c.67G>A (p.Ala23Thr)not specified [RCV004350306]likely benign203830429038304290Humanname
401895069CV2792761single nucleotide variantNM_001725.3(BPI):c.52G>A (p.Val18Ile)not specified [RCV004365517]uncertain significance203830427538304275Humanname
401930414CV2824403single nucleotide variantNM_001725.3(BPI):c.450C>T (p.Pro150=)not provided [RCV003440397]likely benign203831056638310566Humanname
597774110CV3643315single nucleotide variantNM_001725.3(BPI):c.65C>A (p.Thr22Asn)not specified [RCV004897907]uncertain significance203830428838304288Humanname
12896415CV390390single nucleotide variantNM_001725.3(BPI):c.35C>T (p.Ala12Val)not provided [RCV004717595]|not specified [RCV000455313]benign203830425838304258Humanname
12895920CV390479single nucleotide variantNM_001725.3(BPI):c.534G>C (p.Val178=)not provided [RCV004717597]|not specified [RCV000454634]benign203831065038310650Humanname
15191462CV705474single nucleotide variantNM_001725.3(BPI):c.345C>T (p.Ser115=)not provided [RCV000954783]benign203830902938309029Humanname
15137821CV773099single nucleotide variantNM_001725.3(BPI):c.453G>A (p.Thr151=)not provided [RCV000943300]likely benign203831056938310569Humanname
156089065CV2202034single nucleotide variantNM_001725.3(BPI):c.113A>G (p.Gln38Arg)not specified [RCV004075955]uncertain significance203830433638304336Humanname
597749078CV3643319single nucleotide variantNM_001725.3(BPI):c.280C>G (p.Gln94Glu)not specified [RCV004892281]uncertain significance203830896438308964Humanname
598263001CV3942406single nucleotide variantNM_001725.3(BPI):c.128A>G (p.Tyr43Cys)not specified [RCV005300915]uncertain significance203830435138304351Humanname
15202791CV705473single nucleotide variantNM_001725.3(BPI):c.256C>T (p.Arg86Cys)not provided [RCV000958037]benign203830894038308940Humanname
15137826CV773100single nucleotide variantNM_001725.3(BPI):c.1074C>T (p.Thr358=)not provided [RCV000943301]likely benign203832634538326345Humanname
156369460CV2193987single nucleotide variantNM_001725.3(BPI):c.898G>T (p.Ala300Ser)not specified [RCV004074711]uncertain significance203832401138324011Humanname
156236702CV2224146single nucleotide variantNM_001725.3(BPI):c.327C>G (p.Asn109Lys)not specified [RCV004096001]uncertain significance203830901138309011Humanname
156076323CV2248328single nucleotide variantNM_001725.3(BPI):c.545T>C (p.Ile182Thr)not specified [RCV004119486]uncertain significance203831188238311882Humanname
156067929CV2317955single nucleotide variantNM_001725.3(BPI):c.834C>G (p.Asp278Glu)not specified [RCV004177077]uncertain significance203832394738323947Humanname
156357971CV2318401single nucleotide variantNM_001725.3(BPI):c.923G>C (p.Arg308Thr)not specified [RCV004179560]likely benign203832403638324036Humanname
156162000CV2319515single nucleotide variantNM_001725.3(BPI):c.661C>A (p.Pro221Thr)not specified [RCV004185085]uncertain significance203831847338318473Humanname
156339042CV2367366single nucleotide variantNM_001725.3(BPI):c.962C>A (p.Thr321Lys)not specified [RCV004209271]uncertain significance203832480238324802Humanname
329388425CV2437395single nucleotide variantNM_001725.3(BPI):c.623C>T (p.Ser208Phe)not specified [RCV004256264]uncertain significance203831843538318435Humanname
401757579CV2675387single nucleotide variantNM_001725.3(BPI):c.385G>A (p.Gly129Ser)not specified [RCV004292192]uncertain significance203831050138310501Humanname
401741175CV2680563single nucleotide variantNM_001725.3(BPI):c.812T>C (p.Met271Thr)not specified [RCV004291195]uncertain significance203832392538323925Humanname
401772261CV2687466single nucleotide variantNM_001725.3(BPI):c.299A>G (p.Asn100Ser)not specified [RCV004300708]uncertain significance203830898338308983Humanname
401755121CV2732614single nucleotide variantNM_001725.3(BPI):c.410G>C (p.Gly137Ala)not specified [RCV004332589]uncertain significance203831052638310526Humanname
401898464CV2787943single nucleotide variantNM_001725.3(BPI):c.688G>C (p.Ala230Pro)not specified [RCV004358602]uncertain significance203832020638320206Humanname
405764085CV3301954single nucleotide variantNM_001725.3(BPI):c.395A>C (p.Asp132Ala)not specified [RCV004434136]uncertain significance203831051138310511Humanname
405764092CV3301955single nucleotide variantNM_001725.3(BPI):c.607G>A (p.Glu203Lys)not specified [RCV004434137]likely benign203831841938318419Humanname
405764097CV3301956single nucleotide variantNM_001725.3(BPI):c.722C>T (p.Ala241Val)not specified [RCV004434138]uncertain significance203832024038320240Humanname
405764103CV3301957single nucleotide variantNM_001725.3(BPI):c.823G>A (p.Ala275Thr)not specified [RCV004434139]likely benign203832393638323936Humanname
405764108CV3301958single nucleotide variantNM_001725.3(BPI):c.840G>T (p.Met280Ile)not specified [RCV004434140]uncertain significance203832395338323953Humanname
597749068CV3643313single nucleotide variantNM_001725.3(BPI):c.770G>A (p.Ser257Asn)not specified [RCV004892279]uncertain significance203832388338323883Humanname
597774114CV3643316single nucleotide variantNM_001725.3(BPI):c.581G>A (p.Arg194Gln)not specified [RCV004897908]uncertain significance203831191838311918Humanname
597749073CV3643318single nucleotide variantNM_001725.3(BPI):c.394G>A (p.Asp132Asn)not specified [RCV004892280]uncertain significance203831051038310510Humanname
12896397CV390457single nucleotide variantNM_001725.3(BPI):c.575C>T (p.Ala192Val)not provided [RCV004717598]|not specified [RCV000455289]benign203831191238311912Humanname
12897002CV390480single nucleotide variantNM_001725.3(BPI):c.634G>A (p.Glu212Lys)not provided [RCV004717599]|not specified [RCV000456105]benign203831844638318446Humanname
598162846CV3942402single nucleotide variantNM_001725.3(BPI):c.927T>A (p.Asp309Glu)not specified [RCV005307300]uncertain significance203832404038324040Humanname
598262995CV3942403single nucleotide variantNM_001725.3(BPI):c.461A>T (p.Lys154Met)not specified [RCV005300913]uncertain significance203831057738310577Humanname
598262998CV3942405single nucleotide variantNM_001725.3(BPI):c.647A>G (p.Tyr216Cys)not specified [RCV005300914]uncertain significance203831845938318459Humanname
598162858CV3942407single nucleotide variantNM_001725.3(BPI):c.799G>T (p.Ala267Ser)not specified [RCV005307302]uncertain significance203832391238323912Humanname
598263005CV3942409single nucleotide variantNM_001725.3(BPI):c.521C>T (p.Ser174Leu)not specified [RCV005300916]uncertain significance203831063738310637Humanname
15152713CV716965single nucleotide variantNM_001725.3(BPI):c.406G>C (p.Glu136Gln)not provided [RCV000968406]benign203831052238310522Humanname
15149697CV728646single nucleotide variantNM_001725.3(BPI):c.997G>A (p.Ala333Thr)not provided [RCV000879221]likely benign203832626838326268Humanname
156169959CV2296712single nucleotide variantNM_001725.3(BPI):c.1147T>G (p.Phe383Val)not specified [RCV004148624]uncertain significance203832641838326418Humanname
156384805CV2371605single nucleotide variantNM_001725.3(BPI):c.1075G>A (p.Gly359Ser)not specified [RCV004216852]uncertain significance203832634638326346Humanname
329386694CV2428387single nucleotide variantNM_001725.3(BPI):c.1393G>A (p.Val465Ile)not specified [RCV004253193]uncertain significance203833565438335654Humanname
401865062CV2757489single nucleotide variantNM_001725.3(BPI):c.1001A>G (p.Lys334Arg)not specified [RCV004340874]uncertain significance203832627238326272Humanname
405764071CV3301952single nucleotide variantNM_001725.3(BPI):c.1269C>G (p.Phe423Leu)not specified [RCV004434134]uncertain significance203833108738331087Humanname
405764078CV3301953single nucleotide variantNM_001725.3(BPI):c.1417T>A (p.Phe473Ile)not specified [RCV004434135]uncertain significance203833714938337149Humanname
407480044CV3424136single nucleotide variantNM_001725.3(BPI):c.1438G>A (p.Val480Ile)not specified [RCV004602143]uncertain significance203833717038337170Humanname
597774117CV3643317single nucleotide variantNM_001725.3(BPI):c.1306G>T (p.Val436Leu)not specified [RCV004897909]uncertain significance203833446338334463Humanname
598162852CV3942404single nucleotide variantNM_001725.3(BPI):c.1031A>G (p.His344Arg)not specified [RCV005307301]uncertain significance203832630238326302Humanname
15153798CV742397single nucleotide variantNM_001725.3(BPI):c.1339A>G (p.Lys447Glu)not provided [RCV000901831]likely benign203833560038335600Humanname
401919714CV2827156single nucleotide variantNM_174897.2(BPIFB6):c.303-6C>Tnot provided [RCV003431291]uncertain significance203303475733034757Humanname
405173582CV2955362duplicationNM_174932.3(BPIFC):c.531-16dupnot provided [RCV003675589]benign223244571332445714Humanname
15202771CV778569deletionNM_080574.4(BPIFA2):c.646-9delnot provided [RCV000958028]benign203317959433179594Humanname
401919718CV2827159single nucleotide variantNM_182519.3(BPIFB4):c.169+107T>Gnot provided [RCV003431293]likely benign203308310733083107Humanname
401930447CV2827160single nucleotide variantNM_182519.3(BPIFB4):c.170-154T>Cnot provided [RCV003440370]likely benign203308321333083213Humanname
402516792CV2936444duplicationNM_174932.3(BPIFC):c.531-17_531-16dupnot provided [RCV003663009]benign223244571332445714Humanname
405079951CV3137142duplicationNM_174932.3(BPIFC):c.531-18_531-16dupnot provided [RCV003834041]benign223244571332445714Humanname
9832077CV167322deletionNM_178466.5(BPIFA3):c.127+1119_621+52delPreeclampsia [RCV000161888]not provided203321878233226542Humanname
126733936CV1020972single nucleotide variantNM_130466.4(UBE3B):c.2085C>G (p.Tyr695Ter)Kaufman oculocerebrofacial syndrome [RCV001334467]pathogenic12109521156109521156Humanalternate_id
9589247CV166062insertionNM_000053.3(ATP7B):c.2298_2299insC (p.Met769Hisfs)Wilson disease [RCV000144366]|Wilson's disease [RCV000144366]pathogenic|not provided135195836751958367Humanalternate_id
405276104CV3199596single nucleotide variantNM_178466.5(BPIFA3):c.602C>T (p.Pro201Leu)BPIFA3-related disorder [RCV003916989]benign203322647133226471Humanname , trait , alternate_id
405292074CV3207817single nucleotide variantNM_178466.5(BPIFA3):c.496G>A (p.Asp166Asn)BPIFA3-related disorder [RCV003929495]likely benign203322520733225207Humanname , trait , alternate_id
405270312CV3211358single nucleotide variantNM_178466.5(BPIFA3):c.326C>A (p.Ser109Ter)BPIFA3-related disorder [RCV003949260]benign203322440233224402Humanname , trait , alternate_id
405286810CV3213771single nucleotide variantNM_178466.5(BPIFA3):c.495C>A (p.Cys165Ter)BPIFA3-related disorder [RCV003924172]benign203322520633225206Humanname , trait , alternate_id
405287590CV3217802single nucleotide variantNM_178466.5(BPIFA3):c.406G>A (p.Val136Ile)BPIFA3-related disorder [RCV003981925]benign203322511733225117Humanname , trait , alternate_id
15156476CV716907single nucleotide variantNM_033197.3(BPIFB1):c.12G>A (p.Pro4=)not provided [RCV000969119]benign203328608533286085Humanname
401930386CV2827158single nucleotide variantNM_182519.3(BPIFB4):c.72G>A (p.Thr24=)not provided [RCV003440369]likely benign203308159833081598Humanname
405764499CV3302023single nucleotide variantNM_174932.3(BPIFC):c.246T>C (p.Asn82=)not specified [RCV004434206]likely benign223244734032447340Humanname
597774668CV3643375single nucleotide variantNM_182519.3(BPIFB4):c.87G>A (p.Thr29=)not specified [RCV004897956]likely benign203308161333081613Humanname
156001098CV2284440single nucleotide variantNM_182519.3(BPIFB4):c.26C>T (p.Ala9Val)not specified [RCV004147053]uncertain significance203308155233081552Humanname
401767153CV2681469single nucleotide variantNM_130852.3(BPIFA1):c.23T>C (p.Ile8Thr)not specified [RCV004292007]uncertain significance203323773433237734Humanname
405764164CV3301968single nucleotide variantNM_178466.5(BPIFA3):c.25C>T (p.Leu9Phe)not specified [RCV004434150]uncertain significance203321756133217561Humanname
407480123CV3424149single nucleotide variantNM_182519.3(BPIFB4):c.23C>T (p.Ala8Val)not specified [RCV004602156]uncertain significance203308154933081549Humanname
407480150CV3424156single nucleotide variantNM_182519.3(BPIFB4):c.11C>T (p.Ala4Val)not specified [RCV004602161]uncertain significance203308153733081537Humanname
156151768CV2197994single nucleotide variantNM_174897.2(BPIFB6):c.74G>A (p.Arg25Gln)not specified [RCV004077202]uncertain significance203303172133031721Humanname
156378261CV2207672single nucleotide variantNM_178466.5(BPIFA3):c.38G>A (p.Gly13Glu)not specified [RCV004084128]uncertain significance203321757433217574Humanname
156112718CV2261183single nucleotide variantNM_182519.3(BPIFB4):c.76C>A (p.Leu26Ile)not specified [RCV004128069]uncertain significance203308160233081602Humanname
155945105CV2291976single nucleotide variantNM_130852.3(BPIFA1):c.76G>T (p.Val26Leu)not specified [RCV004158482]likely benign203323778733237787Humanname
156166983CV2319975single nucleotide variantNM_033197.3(BPIFB1):c.94G>C (p.Gly32Arg)not specified [RCV004167848]uncertain significance203328616733286167Humanname
156396323CV2326213single nucleotide variantNM_178466.5(BPIFA3):c.58G>T (p.Ala20Ser)not specified [RCV004180478]uncertain significance203321759433217594Humanname
155967091CV2329876single nucleotide variantNM_130852.3(BPIFA1):c.88C>G (p.Gln30Glu)not specified [RCV004183334]uncertain significance203323779933237799Humanname
156040334CV2332801single nucleotide variantNM_174932.3(BPIFC):c.175C>T (p.Leu59Phe)not specified [RCV004189469]uncertain significance223245345332453453Humanname
156235711CV2346383single nucleotide variantNM_130852.3(BPIFA1):c.76G>A (p.Val26Met)not specified [RCV004203864]uncertain significance203323778733237787Humanname
156384105CV2361819single nucleotide variantNM_130852.3(BPIFA1):c.62T>A (p.Phe21Tyr)not specified [RCV004223290]uncertain significance203323777333237773Humanname
156257962CV2395318single nucleotide variantNM_025227.3(BPIFB2):c.83G>A (p.Arg28Gln)not specified [RCV004239414]uncertain significance203300865733008657Humanname
329358238CV2425164single nucleotide variantNM_174897.2(BPIFB6):c.50G>A (p.Arg17Gln)not specified [RCV004249051]uncertain significance203303169733031697Humanname
401919713CV2827155single nucleotide variantNM_025227.3(BPIFB2):c.50T>A (p.Val17Glu)not provided [RCV003431290]likely benign203300862433008624Human1name
401919713CV2827155single nucleotide variantNM_025227.3(BPIFB2):c.50T>A (p.Val17Glu)not provided [RCV003431290]likely benign203300862433008625Human1name
405764281CV3301987single nucleotide variantNM_025227.3(BPIFB2):c.55G>A (p.Gly19Ser)not specified [RCV004434170]likely benign203300862933008629Humanname
405764286CV3301988single nucleotide variantNM_025227.3(BPIFB2):c.62C>T (p.Ser21Phe)not specified [RCV004434171]uncertain significance203300863633008636Humanname
405764486CV3302021single nucleotide variantNM_174932.3(BPIFC):c.121T>C (p.Tyr41His)not specified [RCV004434204]uncertain significance223245726632457266Humanname
405764493CV3302022single nucleotide variantNM_174932.3(BPIFC):c.122A>G (p.Tyr41Cys)not specified [RCV004434205]uncertain significance223245726532457265Humanname
407480068CV3424140single nucleotide variantNM_178466.5(BPIFA3):c.53C>T (p.Pro18Leu)not specified [RCV004602147]uncertain significance203321758933217589Humanname
407480140CV3424154single nucleotide variantNM_182519.3(BPIFB4):c.94G>A (p.Val32Met)not specified [RCV004602159]uncertain significance203308162033081620Humanname
597774679CV3643372single nucleotide variantNM_182519.3(BPIFB4):c.61G>A (p.Glu21Lys)not specified [RCV004897953]uncertain significance203308158733081587Humanname
597774511CV3643387single nucleotide variantNM_174932.3(BPIFC):c.286G>T (p.Ala96Ser)not specified [RCV004897965]uncertain significance223244730032447300Humanname
597774507CV3643388single nucleotide variantNM_174932.3(BPIFC):c.287C>T (p.Ala96Val)not specified [RCV004897966]uncertain significance223244729932447299Humanname
597774265CV3643394single nucleotide variantNM_174932.3(BPIFC):c.244A>G (p.Asn82Asp)not specified [RCV004897972]uncertain significance223245338432453384Humanname
598162872CV3942416single nucleotide variantNM_130852.3(BPIFA1):c.71T>A (p.Leu24Gln)not specified [RCV005307304]uncertain significance203323778233237782Humanname
598263032CV3942419single nucleotide variantNM_080574.4(BPIFA2):c.43A>C (p.Thr15Pro)not specified [RCV005300924]uncertain significance203316918833169188Humanname
598263079CV3942447single nucleotide variantNM_182519.3(BPIFB4):c.43G>C (p.Val15Leu)not specified [RCV005300938]uncertain significance203308156933081569Humanname
598263083CV3942449single nucleotide variantNM_182519.3(BPIFB4):c.71C>T (p.Thr24Met)not specified [RCV005300939]uncertain significance203308159733081597Humanname
598162982CV3942452single nucleotide variantNM_182519.3(BPIFB4):c.60C>A (p.His20Gln)not specified [RCV005307322]likely benign203308158633081586Humanname
598163022CV3942465single nucleotide variantNM_174932.3(BPIFC):c.152A>C (p.Glu51Ala)not specified [RCV005307328]uncertain significance223245347632453476Humanname
15111362CV716906single nucleotide variantNM_080574.4(BPIFA2):c.303G>T (p.Gly101=)not provided [RCV000961090]benign203317407933174079Humanname
8637626CV92852single nucleotide variantNM_174932.2(BPIFC):c.218T>C (p.Val73Ala)Malignant melanoma [RCV000072950]not provided223245341032453410Humanname
156397461CV2200536single nucleotide variantNM_130852.3(BPIFA1):c.239G>A (p.Gly80Glu)not specified [RCV004078886]uncertain significance203323813333238133Humanname
155986478CV2247980single nucleotide variantNM_033197.3(BPIFB1):c.181G>T (p.Ala61Ser)not specified [RCV004121407]uncertain significance203328880633288806Humanname
156075045CV2247982single nucleotide variantNM_033197.3(BPIFB1):c.182C>A (p.Ala61Asp)not specified [RCV004121409]uncertain significance203328880733288807Humanname
156338683CV2271316single nucleotide variantNM_025227.3(BPIFB2):c.142G>T (p.Ala48Ser)not specified [RCV004136436]uncertain significance203301105633011056Humanname
156082415CV2292917single nucleotide variantNM_025227.3(BPIFB2):c.139C>T (p.Arg47Trp)not specified [RCV004148413]uncertain significance203301105333011053Humanname
156206326CV2297953single nucleotide variantNM_178466.5(BPIFA3):c.157G>A (p.Ala53Thr)not specified [RCV004157875]uncertain significance203322384033223840Humanname
156178499CV2331319single nucleotide variantNM_033197.3(BPIFB1):c.170C>T (p.Pro57Leu)not specified [RCV004183963]uncertain significance203328879533288795Humanname
156184288CV2335554single nucleotide variantNM_182519.3(BPIFB4):c.178G>A (p.Asp60Asn)not specified [RCV004193766]uncertain significance203308337533083375Humanname
156136651CV2357223single nucleotide variantNM_174932.3(BPIFC):c.785C>A (p.Pro262His)not specified [RCV004207005]uncertain significance223243584332435843Humanname
156154855CV2359655single nucleotide variantNM_178466.5(BPIFA3):c.245G>C (p.Ser82Thr)not specified [RCV004210482]uncertain significance203322392833223928Humanname
156133500CV2361864single nucleotide variantNM_174897.2(BPIFB6):c.226G>A (p.Val76Ile)not specified [RCV004207640]uncertain significance203303421433034214Humanname
156158850CV2364020single nucleotide variantNM_174897.2(BPIFB6):c.109G>A (p.Ala37Thr)not specified [RCV004221030]uncertain significance203303299533032995Humanname
156305277CV2369418single nucleotide variantNM_182519.3(BPIFB4):c.218C>A (p.Pro73Gln)not specified [RCV004210364]uncertain significance203308341533083415Humanname
155983261CV2371252single nucleotide variantNM_182519.3(BPIFB4):c.217C>G (p.Pro73Ala)not specified [RCV004220989]uncertain significance203308341433083414Humanname
156142701CV2383791single nucleotide variantNM_080574.4(BPIFA2):c.217C>G (p.Leu73Val)not specified [RCV004231663]uncertain significance203317299133172991Humanname
155955707CV2387150single nucleotide variantNM_025227.3(BPIFB2):c.177G>T (p.Trp59Cys)not specified [RCV004238258]uncertain significance203301109133011091Humanname
156258859CV2395428single nucleotide variantNM_174932.3(BPIFC):c.626C>T (p.Ala209Val)not specified [RCV004241301]uncertain significance223244270032442700Humanname
329393277CV2449619single nucleotide variantNM_080574.4(BPIFA2):c.154A>G (p.Lys52Glu)not specified [RCV004268537]likely benign203316929933169299Humanname
329371787CV2454891single nucleotide variantNM_182519.3(BPIFB4):c.289G>T (p.Ala97Ser)not specified [RCV004270388]uncertain significance203308348633083486Humanname
401720788CV2673489single nucleotide variantNM_174932.3(BPIFC):c.346A>G (p.Thr116Ala)not specified [RCV004288457]uncertain significance223244724032447240Humanname
401771144CV2679093single nucleotide variantNM_174932.3(BPIFC):c.967G>A (p.Val323Met)not specified [RCV004295086]uncertain significance223243373032433730Humanname
401719079CV2679410single nucleotide variantNM_174932.3(BPIFC):c.944A>G (p.Gln315Arg)not specified [RCV004285938]uncertain significance223243375332433753Humanname
401783803CV2720448single nucleotide variantNM_033197.3(BPIFB1):c.238G>A (p.Val80Ile)not specified [RCV004327871]likely benign203328886333288863Humanname
401768422CV2735300single nucleotide variantNM_174932.3(BPIFC):c.610G>T (p.Ala204Ser)not specified [RCV004333966]uncertain significance223244271632442716Humanname
401874121CV2754569single nucleotide variantNM_033197.3(BPIFB1):c.187C>T (p.Arg63Trp)not specified [RCV004339247]uncertain significance203328881233288812Humanname
401875140CV2756247single nucleotide variantNM_080574.4(BPIFA2):c.158G>A (p.Gly53Asp)not specified [RCV004338343]uncertain significance203317293233172932Humanname
401919717CV2827157single nucleotide variantNM_001376932.3(BPIFB3):c.81C>T (p.Leu27=)not provided [RCV003431292]likely benign203305551633055516Humanname
405764112CV3301959single nucleotide variantNM_130852.3(BPIFA1):c.121C>T (p.Pro41Ser)not specified [RCV004434141]uncertain significance203323783233237832Humanname
405764129CV3301962single nucleotide variantNM_080574.4(BPIFA2):c.197A>G (p.Gln66Arg)not specified [RCV004434144]uncertain significance203317297133172971Humanname
405764148CV3301965single nucleotide variantNM_178466.5(BPIFA3):c.140G>A (p.Gly47Asp)not specified [RCV004434147]uncertain significance203322382333223823Humanname
405764154CV3301966single nucleotide variantNM_178466.5(BPIFA3):c.217G>A (p.Ala73Thr)not specified [RCV004434148]uncertain significance203322390033223900Humanname
405764160CV3301967single nucleotide variantNM_178466.5(BPIFA3):c.258C>A (p.His86Gln)not specified [RCV004434149]uncertain significance203322394133223941Humanname
405764171CV3301969single nucleotide variantNM_178466.5(BPIFA3):c.260A>G (p.Gln87Arg)not specified [RCV004434151]uncertain significance203322394333223943Humanname
405764196CV3301973single nucleotide variantNM_033197.3(BPIFB1):c.106A>G (p.Ile36Val)not specified [RCV004434155]uncertain significance203328617933286179Humanname
405764216CV3301976single nucleotide variantNM_033197.3(BPIFB1):c.143A>G (p.Asn48Ser)not specified [RCV004434158]uncertain significance203328876833288768Humanname
405764257CV3301983single nucleotide variantNM_025227.3(BPIFB2):c.140G>A (p.Arg47Gln)not specified [RCV004434165]uncertain significance203301105433011054Humanname
405764263CV3301984single nucleotide variantNM_025227.3(BPIFB2):c.232C>T (p.Arg78Cys)not specified [RCV004434166]uncertain significance203301283133012831Humanname
405764358CV3302000single nucleotide variantNM_182519.3(BPIFB4):c.248G>A (p.Gly83Asp)not specified [RCV004434183]uncertain significance203308344533083445Humanname
405764403CV3302008single nucleotide variantNM_174897.2(BPIFB6):c.121A>G (p.Ser41Gly)not specified [RCV004434191]uncertain significance203303300733033007Humanname
405764410CV3302009single nucleotide variantNM_174897.2(BPIFB6):c.151G>T (p.Ala51Ser)not specified [RCV004434192]uncertain significance203303303733033037Humanname
405764415CV3302010single nucleotide variantNM_174897.2(BPIFB6):c.259A>G (p.Ile87Val)not specified [RCV004434193]uncertain significance203303424733034247Humanname
405764420CV3302011single nucleotide variantNM_174897.2(BPIFB6):c.292A>G (p.Thr98Ala)not specified [RCV004434194]uncertain significance203303428033034280Humanname
405764505CV3302024single nucleotide variantNM_174932.3(BPIFC):c.508G>A (p.Val170Ile)not specified [RCV004434207]uncertain significance223244586332445863Humanname
405764511CV3302025single nucleotide variantNM_174932.3(BPIFC):c.751G>A (p.Val251Ile)not specified [RCV004434208]uncertain significance223243587732435877Humanname
407480105CV3424146single nucleotide variantNM_025227.3(BPIFB2):c.188C>A (p.Ala63Glu)not specified [RCV004602153]uncertain significance203301110233011102Humanname
407480127CV3424151single nucleotide variantNM_182519.3(BPIFB4):c.280G>A (p.Asp94Asn)not specified [RCV004602157]uncertain significance203308347733083477Humanname
407480181CV3424162single nucleotide variantNM_174932.3(BPIFC):c.968T>G (p.Val323Gly)not specified [RCV004602167]uncertain significance223243372932433729Humanname
407480187CV3424163single nucleotide variantNM_174932.3(BPIFC):c.425G>A (p.Gly142Asp)not specified [RCV004602168]uncertain significance223244594632445946Humanname
407480193CV3424164single nucleotide variantNM_174932.3(BPIFC):c.498C>G (p.Ser166Arg)not specified [RCV004602169]uncertain significance223244587332445873Humanname
597774121CV3643321single nucleotide variantNM_130852.3(BPIFA1):c.292G>A (p.Val98Met)not specified [RCV004897910]uncertain significance203323818633238186Humanname
597774151CV3643330single nucleotide variantNM_178466.5(BPIFA3):c.200A>G (p.Asn67Ser)not specified [RCV004897918]uncertain significance203322388333223883Humanname
597774177CV3643338single nucleotide variantNM_033197.3(BPIFB1):c.283C>T (p.Leu95Phe)not specified [RCV004897925]uncertain significance203328991033289910Humanname
597774707CV3643363single nucleotide variantNM_182519.3(BPIFB4):c.242T>C (p.Leu81Pro)not specified [RCV004897946]uncertain significance203308343933083439Humanname
597774683CV3643371single nucleotide variantNM_182519.3(BPIFB4):c.286A>G (p.Thr96Ala)not specified [RCV004897952]uncertain significance203308348333083483Humanname
597774676CV3643373single nucleotide variantNM_182519.3(BPIFB4):c.181A>T (p.Ile61Phe)not specified [RCV004897954]uncertain significance203308337833083378Humanname
597749131CV3643379single nucleotide variantNM_174897.2(BPIFB6):c.148G>A (p.Glu50Lys)not specified [RCV004892292]uncertain significance203303303433033034Humanname
597774642CV3643384single nucleotide variantNM_174932.3(BPIFC):c.844A>C (p.Ile282Leu)not specified [RCV004897963]uncertain significance223243578432435784Humanname
597774319CV3643391single nucleotide variantNM_174932.3(BPIFC):c.485A>T (p.Tyr162Phe)not specified [RCV004897969]uncertain significance223244588632445886Humanname
597774257CV3643392single nucleotide variantNM_174932.3(BPIFC):c.793C>T (p.Pro265Ser)not specified [RCV004897970]uncertain significance223243583532435835Humanname
598263009CV3942410single nucleotide variantNM_130852.3(BPIFA1):c.122C>T (p.Pro41Leu)not specified [RCV005300917]uncertain significance203323783333237833Humanname
598263019CV3942413single nucleotide variantNM_130852.3(BPIFA1):c.168C>A (p.Ser56Arg)not specified [RCV005300920]uncertain significance203323806233238062Humanname
598263025CV3942415single nucleotide variantNM_130852.3(BPIFA1):c.134C>T (p.Thr45Ile)not specified [RCV005300922]uncertain significance203323784533237845Humanname
598263036CV3942420single nucleotide variantNM_080574.4(BPIFA2):c.178G>A (p.Val60Ile)not specified [RCV005300925]uncertain significance203317295233172952Humanname
598263042CV3942422single nucleotide variantNM_080574.4(BPIFA2):c.272A>G (p.Lys91Arg)not specified [RCV005300927]uncertain significance203317304633173046Humanname
598162896CV3942425single nucleotide variantNM_178466.5(BPIFA3):c.185T>C (p.Phe62Ser)not specified [RCV005307308]uncertain significance203322386833223868Humanname
598263046CV3942426single nucleotide variantNM_033197.3(BPIFB1):c.164A>G (p.Gln55Arg)not specified [RCV005300928]uncertain significance203328878933288789Humanname
598263053CV3942430single nucleotide variantNM_033197.3(BPIFB1):c.202G>A (p.Gly68Arg)not specified [RCV005300930]uncertain significance203328882733288827Humanname
598162976CV3942451single nucleotide variantNM_182519.3(BPIFB4):c.211C>A (p.Pro71Thr)not specified [RCV005307321]uncertain significance203308340833083408Humanname
598163010CV3942458single nucleotide variantNM_174897.2(BPIFB6):c.118G>A (p.Glu40Lys)not specified [RCV005307326]uncertain significance203303300433033004Humanname
598263105CV3942462single nucleotide variantNM_174932.3(BPIFC):c.520G>A (p.Gly174Arg)not specified [RCV005300946]uncertain significance223244585132445851Humanname
598263110CV3942464single nucleotide variantNM_174932.3(BPIFC):c.784C>A (p.Pro262Thr)not specified [RCV005300947]uncertain significance223243584432435844Humanname
598163035CV3942469single nucleotide variantNM_174932.3(BPIFC):c.435C>G (p.Ile145Met)not specified [RCV005307330]uncertain significance223244593632445936Humanname
15114538CV716908single nucleotide variantNM_033197.3(BPIFB1):c.116A>G (p.Lys39Arg)not provided [RCV000961694]benign203328874133288741Humanname
8628489CV83633single nucleotide variantNM_033197.2(BPIFB1):c.1362G>A (p.Leu454=)Malignant melanoma [RCV000063714]not provided203330695433306954Humanname
8628672CV83816single nucleotide variantNM_174932.2(BPIFC):c.368C>T (p.Pro123Leu)Malignant melanoma [RCV000063897]not provided223244721832447218Humanname
8637258CV92484single nucleotide variantNM_080574.2(BPIFA2):c.109G>A (p.Glu37Lys)Malignant melanoma [RCV000072582]not provided203316925433169254Humanname
156397824CV2193777single nucleotide variantNM_080574.4(BPIFA2):c.662G>A (p.Arg221His)not specified [RCV004074536]likely benign203317962033179620Humanname
156145676CV2196816single nucleotide variantNM_174897.2(BPIFB6):c.737C>A (p.Pro246His)not specified [RCV004069827]uncertain significance203303762933037629Humanname
156089283CV2202050single nucleotide variantNM_025227.3(BPIFB2):c.710C>T (p.Thr237Met)not specified [RCV004075968]uncertain significance203301867733018677Humanname
156068942CV2203737single nucleotide variantNM_130852.3(BPIFA1):c.745G>A (p.Gly249Arg)not specified [RCV004074382]uncertain significance203324250133242501Humanname
156325644CV2205383single nucleotide variantNM_033197.3(BPIFB1):c.865G>A (p.Val289Met)not specified [RCV004082331]uncertain significance203330135033301350Humanname
156376728CV2206814single nucleotide variantNM_130852.3(BPIFA1):c.475A>T (p.Ile159Phe)not specified [RCV004083491]uncertain significance203324027933240279Humanname
156110783CV2207725single nucleotide variantNM_174897.2(BPIFB6):c.634G>A (p.Ala212Thr)not specified [RCV004084169]likely benign203303650133036501Humanname
156222775CV2209059single nucleotide variantNM_025227.3(BPIFB2):c.779C>T (p.Ser260Phe)not specified [RCV004093302]uncertain significance203301874633018746Humanname
156179167CV2229502single nucleotide variantNM_182519.3(BPIFB4):c.476C>A (p.Pro159His)not specified [RCV004103045]uncertain significance203308367333083673Humanname
156384361CV2231060single nucleotide variantNM_174897.2(BPIFB6):c.916C>T (p.Pro306Ser)not specified [RCV004094291]uncertain significance203303936233039362Humanname
156242346CV2231420single nucleotide variantNM_080574.4(BPIFA2):c.413C>T (p.Pro138Leu)not specified [RCV004096499]uncertain significance203317540933175409Humanname
156238208CV2235763single nucleotide variantNM_178466.5(BPIFA3):c.668T>C (p.Leu223Pro)not specified [RCV004111893]uncertain significance203322697633226976Humanname
155945005CV2237915single nucleotide variantNM_174932.3(BPIFC):c.1478G>A (p.Gly493Asp)not specified [RCV004109140]uncertain significance223241434932414349Humanname
156136906CV2239762single nucleotide variantNM_174897.2(BPIFB6):c.724G>A (p.Ala242Thr)not specified [RCV004108293]likely benign203303761633037616Humanname
156075410CV2248052single nucleotide variantNM_033197.3(BPIFB1):c.818C>G (p.Pro273Arg)not specified [RCV004115333]uncertain significance203330130333301303Humanname
156207698CV2250060single nucleotide variantNM_080574.4(BPIFA2):c.646A>G (p.Ile216Val)not specified [RCV004116887]likely benign203317960433179604Humanname
156198584CV2255916single nucleotide variantNM_080574.4(BPIFA2):c.473T>C (p.Ile158Thr)not specified [RCV004122375]uncertain significance203317546933175469Humanname
156201352CV2256155single nucleotide variantNM_033197.3(BPIFB1):c.982G>C (p.Ala328Pro)not specified [RCV004116432]uncertain significance203330291633302916Humanname
156104527CV2260581single nucleotide variantNM_130852.3(BPIFA1):c.324A>G (p.Ile108Met)not specified [RCV004123352]uncertain significance203323980633239806Humanname
156319471CV2260845single nucleotide variantNM_182519.3(BPIFB4):c.299G>C (p.Gly100Ala)not specified [RCV004125753]uncertain significance203308349633083496Humanname
156171856CV2267781single nucleotide variantNM_182519.3(BPIFB4):c.531G>C (p.Met177Ile)not specified [RCV004134306]uncertain significance203308372833083728Humanname
156074857CV2273179single nucleotide variantNM_178466.5(BPIFA3):c.436G>T (p.Val146Leu)not specified [RCV004138116]uncertain significance203322514733225147Humanname
156233537CV2273968single nucleotide variantNM_178466.5(BPIFA3):c.347C>T (p.Ser116Leu)not specified [RCV004134366]uncertain significance203322442333224423Humanname
156275665CV2280073single nucleotide variantNM_174897.2(BPIFB6):c.977A>G (p.Lys326Arg)not specified [RCV004146429]uncertain significance203303942333039423Humanname
156271027CV2315653single nucleotide variantNM_174897.2(BPIFB6):c.368G>A (p.Arg123Gln)not specified [RCV004169685]likely benign203303482833034828Humanname
155971447CV2335686single nucleotide variantNM_033197.3(BPIFB1):c.607G>A (p.Val203Met)not specified [RCV004193887]uncertain significance203329753433297534Humanname
155982222CV2337138single nucleotide variantNM_130852.3(BPIFA1):c.392T>C (p.Val131Ala)not specified [RCV004192898]uncertain significance203323987433239874Humanname
155984748CV2344453single nucleotide variantNM_182519.3(BPIFB4):c.706C>T (p.Arg236Trp)not specified [RCV004195197]uncertain significance203308492033084920Humanname
156340226CV2347803single nucleotide variantNM_025227.3(BPIFB2):c.337C>T (p.Pro113Ser)not specified [RCV004195460]uncertain significance203301383833013838Humanname
156062542CV2351424single nucleotide variantNM_080574.4(BPIFA2):c.300T>G (p.Phe100Leu)not specified [RCV004193112]likely benign203317307433173074Humanname
156009607CV2362018single nucleotide variantNM_025227.3(BPIFB2):c.751G>A (p.Glu251Lys)not specified [RCV004209832]likely benign203301871833018718Humanname
156212196CV2366925single nucleotide variantNM_025227.3(BPIFB2):c.820G>A (p.Ala274Thr)not specified [RCV004213335]uncertain significance203301878733018787Humanname
156098400CV2392783single nucleotide variantNM_178466.5(BPIFA3):c.394G>C (p.Asp132His)not specified [RCV004247148]uncertain significance203322510533225105Humanname
155970174CV2400867single nucleotide variantNM_174897.2(BPIFB6):c.607G>A (p.Val203Ile)not specified [RCV004242519]likely benign203303647433036474Humanname
329388310CV2437294single nucleotide variantNM_182519.3(BPIFB4):c.938A>G (p.Asn313Ser)not specified [RCV004256175]uncertain significance203308897733088977Humanname
329361832CV2448067single nucleotide variantNM_182519.3(BPIFB4):c.973G>A (p.Asp325Asn)not specified [RCV004263293]likely benign203308901233089012Humanname
329354538CV2448378single nucleotide variantNM_033197.3(BPIFB1):c.698A>T (p.Asp233Val)not specified [RCV004256664]uncertain significance203329993533299935Humanname
329372939CV2451734single nucleotide variantNM_130852.3(BPIFA1):c.478A>G (p.Thr160Ala)not specified [RCV004274637]uncertain significance203324028233240282Humanname
329379037CV2460121single nucleotide variantNM_174897.2(BPIFB6):c.477G>T (p.Lys159Asn)not specified [RCV004273230]uncertain significance203303510533035105Humanname
401775137CV2692271single nucleotide variantNM_182519.3(BPIFB4):c.631G>A (p.Val211Met)not specified [RCV004310271]uncertain significance203308382833083828Humanname
401729083CV2694014single nucleotide variantNM_182519.3(BPIFB4):c.865C>T (p.Arg289Trp)not specified [RCV004300299]uncertain significance203308610333086103Humanname
401782687CV2697162single nucleotide variantNM_025227.3(BPIFB2):c.595C>A (p.Pro199Thr)not specified [RCV004302150]uncertain significance203301827633018276Humanname
401722711CV2703472single nucleotide variantNM_182519.3(BPIFB4):c.835C>G (p.Arg279Gly)not specified [RCV004317658]uncertain significance203308607333086073Humanname
401734975CV2706610single nucleotide variantNM_080574.4(BPIFA2):c.740C>A (p.Thr247Asn)not specified [RCV004319193]uncertain significance203318055033180550Humanname
401783310CV2716270single nucleotide variantNM_174897.2(BPIFB6):c.592G>A (p.Gly198Ser)not specified [RCV004323488]uncertain significance203303645933036459Humanname
401777304CV2721675single nucleotide variantNM_025227.3(BPIFB2):c.361C>T (p.Arg121Cys)not specified [RCV004316162]uncertain significance203301386233013862Humanname
401889388CV2762009single nucleotide variantNM_174932.3(BPIFC):c.1075G>A (p.Asp359Asn)not specified [RCV004339625]uncertain significance223243244732432447Humanname
401866593CV2762692single nucleotide variantNM_025227.3(BPIFB2):c.643A>G (p.Ser215Gly)not specified [RCV004340253]uncertain significance203301832433018324Humanname
401867923CV2767111single nucleotide variantNM_182519.3(BPIFB4):c.334G>A (p.Glu112Lys)not specified [RCV004347512]uncertain significance203308353133083531Humanname
401885649CV2774997single nucleotide variantNM_174897.2(BPIFB6):c.973A>G (p.Met325Val)not specified [RCV004346389]uncertain significance203303941933039419Humanname
401891034CV2778609single nucleotide variantNM_033197.3(BPIFB1):c.947G>A (p.Arg316Gln)not specified [RCV004344257]likely benign203330237833302378Humanname
401894362CV2780817single nucleotide variantNM_025227.3(BPIFB2):c.510T>G (p.Ser170Arg)not specified [RCV004352135]likely benign203301549033015490Humanname
405764118CV3301960single nucleotide variantNM_130852.3(BPIFA1):c.544C>T (p.His182Tyr)not specified [RCV004434142]uncertain significance203324034833240348Humanname
405764135CV3301963single nucleotide variantNM_080574.4(BPIFA2):c.608C>T (p.Thr203Met)not specified [RCV004434145]uncertain significance203317819133178191Humanname
405764143CV3301964single nucleotide variantNM_080574.4(BPIFA2):c.715C>T (p.Pro239Ser)not specified [RCV004434146]uncertain significance203318052533180525Humanname
405764176CV3301970single nucleotide variantNM_178466.5(BPIFA3):c.394G>A (p.Asp132Asn)not specified [RCV004434152]likely benign203322510533225105Humanname
405764183CV3301971single nucleotide variantNM_178466.5(BPIFA3):c.433G>A (p.Val145Ile)not specified [RCV004434153]uncertain significance203322514433225144Humanname
405764189CV3301972single nucleotide variantNM_178466.5(BPIFA3):c.730C>T (p.Pro244Ser)not specified [RCV004434154]uncertain significance203322758233227582Humanname
405764222CV3301977single nucleotide variantNM_033197.3(BPIFB1):c.386T>C (p.Val129Ala)not specified [RCV004434159]uncertain significance203329097733290977Humanname
405764228CV3301978single nucleotide variantNM_033197.3(BPIFB1):c.821C>T (p.Thr274Ile)not specified [RCV004434160]uncertain significance203330130633301306Humanname
405764233CV3301979single nucleotide variantNM_033197.3(BPIFB1):c.940G>T (p.Ala314Ser)not specified [RCV004434161]uncertain significance203330237133302371Humanname
405764270CV3301985single nucleotide variantNM_025227.3(BPIFB2):c.398G>A (p.Ser133Asn)not specified [RCV004434168]uncertain significance203301389933013899Humanname
405764275CV3301986single nucleotide variantNM_025227.3(BPIFB2):c.430G>A (p.Ala144Thr)not specified [RCV004434169]uncertain significance203301393133013931Humanname
405764294CV3301989single nucleotide variantNM_025227.3(BPIFB2):c.754G>C (p.Gly252Arg)not specified [RCV004434172]uncertain significance203301872133018721Humanname
405764301CV3301990single nucleotide variantNM_025227.3(BPIFB2):c.812T>C (p.Leu271Pro)not specified [RCV004434173]uncertain significance203301877933018779Humanname
405764308CV3301991single nucleotide variantNM_025227.3(BPIFB2):c.934A>G (p.Met312Val)not specified [RCV004434174]uncertain significance203301960433019604Humanname
405764364CV3302001single nucleotide variantNM_182519.3(BPIFB4):c.530T>C (p.Met177Thr)not specified [RCV004434184]uncertain significance203308372733083727Humanname
405764370CV3302002single nucleotide variantNM_182519.3(BPIFB4):c.553G>T (p.Ala185Ser)not specified [RCV004434185]likely benign203308375033083750Humanname
405764376CV3302003single nucleotide variantNM_182519.3(BPIFB4):c.557G>A (p.Gly186Asp)not specified [RCV004434186]uncertain significance203308375433083754Humanname
405764381CV3302004single nucleotide variantNM_182519.3(BPIFB4):c.647G>A (p.Gly216Asp)not specified [RCV004434187]uncertain significance203308384433083844Humanname
405764386CV3302005single nucleotide variantNM_182519.3(BPIFB4):c.674C>T (p.Thr225Met)not specified [RCV004434188]uncertain significance203308387133083871Humanname
405764392CV3302006single nucleotide variantNM_182519.3(BPIFB4):c.718C>T (p.Arg240Trp)not specified [RCV004434189]uncertain significance203308493233084932Humanname
405764397CV3302007single nucleotide variantNM_182519.3(BPIFB4):c.820A>G (p.Ile274Val)not specified [RCV004434190]uncertain significance203308605833086058Humanname
405764426CV3302012single nucleotide variantNM_174897.2(BPIFB6):c.466A>G (p.Met156Val)not specified [RCV004434195]likely benign203303509433035094Humanname
405764448CV3302015single nucleotide variantNM_174897.2(BPIFB6):c.580C>T (p.Pro194Ser)not specified [RCV004434198]uncertain significance203303644733036447Humanname
405764455CV3302016single nucleotide variantNM_174897.2(BPIFB6):c.581C>T (p.Pro194Leu)not specified [RCV004434199]uncertain significance203303644833036448Humanname
405764461CV3302017single nucleotide variantNM_174897.2(BPIFB6):c.628G>A (p.Ala210Thr)not specified [RCV004434200]likely benign203303649533036495Humanname
405764466CV3302018single nucleotide variantNM_174897.2(BPIFB6):c.718G>A (p.Gly240Arg)not specified [RCV004434201]uncertain significance203303761033037610Humanname
405764473CV3302019single nucleotide variantNM_174897.2(BPIFB6):c.791C>G (p.Ser264Cys)not specified [RCV004434202]uncertain significance203303768333037683Humanname
405764479CV3302020single nucleotide variantNM_174932.3(BPIFC):c.1043T>C (p.Ile348Thr)not specified [RCV004434203]uncertain significance223243247932432479Humanname
407480050CV3424137single nucleotide variantNM_130852.3(BPIFA1):c.496G>A (p.Val166Met)not specified [RCV004602144]uncertain significance203324030033240300Humanname
407480056CV3424138single nucleotide variantNM_130852.3(BPIFA1):c.646C>T (p.Pro216Ser)not specified [RCV004602145]uncertain significance203324144933241449Humanname
407480061CV3424139single nucleotide variantNM_080574.4(BPIFA2):c.392C>T (p.Ala131Val)not specified [RCV004602146]uncertain significance203317416833174168Humanname
407480075CV3424141single nucleotide variantNM_178466.5(BPIFA3):c.422A>T (p.His141Leu)not specified [RCV004602148]uncertain significance203322513333225133Humanname
407480083CV3424142single nucleotide variantNM_033197.3(BPIFB1):c.466A>T (p.Ser156Cys)not specified [RCV004602149]uncertain significance203329105733291057Humanname
407500264CV3424150single nucleotide variantNM_182519.3(BPIFB4):c.760C>T (p.Arg254Cys)not specified [RCV004607099]likely benign203308497433084974Humanname
407480134CV3424152single nucleotide variantNM_182519.3(BPIFB4):c.731G>C (p.Gly244Ala)not specified [RCV004602158]uncertain significance203308494533084945Humanname
407480155CV3424157single nucleotide variantNM_182519.3(BPIFB4):c.866G>C (p.Arg289Pro)not specified [RCV004602162]uncertain significance203308610433086104Humanname
407480166CV3424159single nucleotide variantNM_174897.2(BPIFB6):c.358C>T (p.Arg120Trp)not specified [RCV004602164]uncertain significance203303481833034818Humanname
407480176CV3424161single nucleotide variantNM_174897.2(BPIFB6):c.587C>T (p.Pro196Leu)not specified [RCV004602166]uncertain significance203303645433036454Humanname
407480198CV3424165single nucleotide variantNM_174932.3(BPIFC):c.1246C>T (p.Arg416Cys)not specified [RCV004602170]uncertain significance223241937632419376Humanname
407480204CV3424167single nucleotide variantNM_174932.3(BPIFC):c.1447A>G (p.Lys483Glu)not specified [RCV004602171]uncertain significance223241438032414380Humanname
597749082CV3643320single nucleotide variantNM_130852.3(BPIFA1):c.343C>G (p.Leu115Val)not specified [RCV004892282]uncertain significance203323982533239825Humanname
597774126CV3643322single nucleotide variantNM_130852.3(BPIFA1):c.586G>A (p.Gly196Ser)not specified [RCV004897911]uncertain significance203324138933241389Humanname
597774132CV3643324single nucleotide variantNM_130852.3(BPIFA1):c.430C>T (p.Pro144Ser)not specified [RCV004897913]uncertain significance203324023433240234Humanname
597774136CV3643325single nucleotide variantNM_080574.4(BPIFA2):c.463G>C (p.Ala155Pro)not specified [RCV004897914]uncertain significance203317545933175459Humanname
597774139CV3643326single nucleotide variantNM_080574.4(BPIFA2):c.706G>T (p.Val236Phe)not specified [RCV004897915]uncertain significance203317966433179664Humanname
597749087CV3643327single nucleotide variantNM_080574.4(BPIFA2):c.691G>A (p.Val231Ile)not specified [RCV004892283]uncertain significance203317964933179649Humanname
597774143CV3643328single nucleotide variantNM_178466.5(BPIFA3):c.403A>G (p.Ile135Val)not specified [RCV004897916]uncertain significance203322511433225114Humanname
597774147CV3643329single nucleotide variantNM_178466.5(BPIFA3):c.541A>G (p.Ile181Val)not specified [RCV004897917]uncertain significance203322641033226410Humanname
597749091CV3643333single nucleotide variantNM_033197.3(BPIFB1):c.855T>G (p.Ser285Arg)not specified [RCV004892284]likely benign203330134033301340Humanname
597774162CV3643334single nucleotide variantNM_033197.3(BPIFB1):c.686G>A (p.Arg229His)not specified [RCV004897921]likely benign203329992333299923Humanname
597774166CV3643335single nucleotide variantNM_033197.3(BPIFB1):c.964G>A (p.Gly322Arg)not specified [RCV004897922]uncertain significance203330239533302395Humanname
597774169CV3643336single nucleotide variantNM_033197.3(BPIFB1):c.959G>C (p.Ser320Thr)not specified [RCV004897923]uncertain significance203330239033302390Humanname
597774173CV3643337single nucleotide variantNM_033197.3(BPIFB1):c.397A>T (p.Met133Leu)not specified [RCV004897924]uncertain significance203329098833290988Humanname
597749096CV3643340single nucleotide variantNM_025227.3(BPIFB2):c.362G>A (p.Arg121His)not specified [RCV004892285]uncertain significance203301386333013863Humanname
597774183CV3643341single nucleotide variantNM_025227.3(BPIFB2):c.860C>T (p.Ser287Leu)not specified [RCV004897927]uncertain significance203301906633019066Humanname
597774192CV3643344single nucleotide variantNM_025227.3(BPIFB2):c.922T>C (p.Phe308Leu)not specified [RCV004897929]uncertain significance203301959233019592Humanname
597774195CV3643345single nucleotide variantNM_025227.3(BPIFB2):c.895C>T (p.Arg299Trp)not specified [RCV004897930]likely benign203301910133019101Humanname
597774203CV3643347single nucleotide variantNM_025227.3(BPIFB2):c.818A>G (p.Lys273Arg)not specified [RCV004897932]uncertain significance203301878533018785Humanname
597774208CV3643348single nucleotide variantNM_025227.3(BPIFB2):c.980T>A (p.Met327Lys)not specified [RCV004897933]uncertain significance203301965033019650Humanname
597749105CV3643349single nucleotide variantNM_025227.3(BPIFB2):c.755G>T (p.Gly252Val)not specified [RCV004892287]uncertain significance203301872233018722Humanname
597749110CV3643350single nucleotide variantNM_025227.3(BPIFB2):c.673G>A (p.Val225Ile)not specified [RCV004892288]uncertain significance203301864033018640Humanname
597774249CV3643361single nucleotide variantNM_182519.3(BPIFB4):c.976G>A (p.Val326Ile)not specified [RCV004897944]uncertain significance203308901533089015Humanname
597774703CV3643364single nucleotide variantNM_182519.3(BPIFB4):c.302G>T (p.Gly101Val)not specified [RCV004897947]uncertain significance203308349933083499Humanname
597774699CV3643366single nucleotide variantNM_182519.3(BPIFB4):c.730G>A (p.Gly244Ser)not specified [RCV004897948]uncertain significance203308494433084944Humanname
597774691CV3643369single nucleotide variantNM_182519.3(BPIFB4):c.775G>A (p.Gly259Arg)not specified [RCV004897950]uncertain significance203308498933084989Humanname
597774688CV3643370single nucleotide variantNM_182519.3(BPIFB4):c.481G>A (p.Val161Ile)not specified [RCV004897951]uncertain significance203308367833083678Humanname
597774672CV3643374single nucleotide variantNM_182519.3(BPIFB4):c.949A>G (p.Asn317Asp)not specified [RCV004897955]uncertain significance203308898833088988Humanname
597749126CV3643377single nucleotide variantNM_182519.3(BPIFB4):c.449G>A (p.Arg150Gln)not specified [RCV004892291]uncertain significance203308364633083646Humanname
597774653CV3643381single nucleotide variantNM_174897.2(BPIFB6):c.871A>G (p.Thr291Ala)not specified [RCV004897960]uncertain significance203303893333038933Humanname
597774649CV3643382single nucleotide variantNM_174897.2(BPIFB6):c.331G>A (p.Val111Met)not specified [RCV004897961]uncertain significance203303479133034791Humanname
597774646CV3643383single nucleotide variantNM_174897.2(BPIFB6):c.839A>G (p.Asp280Gly)not specified [RCV004897962]uncertain significance203303773133037731Humanname
597774638CV3643386single nucleotide variantNM_174932.3(BPIFC):c.1135G>A (p.Val379Ile)not specified [RCV004897964]uncertain significance223243238732432387Humanname
597774503CV3643389single nucleotide variantNM_174932.3(BPIFC):c.1384G>C (p.Asp462His)not specified [RCV004897967]uncertain significance223241593232415932Humanname
597774403CV3643390single nucleotide variantNM_174932.3(BPIFC):c.1261G>A (p.Val421Ile)not specified [RCV004897968]uncertain significance223241714832417148Humanname
597774261CV3643393single nucleotide variantNM_174932.3(BPIFC):c.1388T>C (p.Ile463Thr)not specified [RCV004897971]uncertain significance223241592832415928Humanname
597774272CV3643396single nucleotide variantNM_174932.3(BPIFC):c.1205T>G (p.Leu402Trp)not specified [RCV004897974]uncertain significance223243135932431359Humanname
598263012CV3942411single nucleotide variantNM_130852.3(BPIFA1):c.455G>A (p.Arg152Lys)not specified [RCV005300918]likely benign203324025933240259Humanname
598263015CV3942412single nucleotide variantNM_130852.3(BPIFA1):c.757G>T (p.Val253Phe)not specified [RCV005300919]uncertain significance203324251333242513Humanname
598263022CV3942414single nucleotide variantNM_130852.3(BPIFA1):c.437T>A (p.Val146Asp)not specified [RCV005300921]uncertain significance203324024133240241Humanname
598162877CV3942417single nucleotide variantNM_080574.4(BPIFA2):c.680T>C (p.Leu227Pro)not specified [RCV005307305]uncertain significance203317963833179638Humanname
598263039CV3942421single nucleotide variantNM_080574.4(BPIFA2):c.532C>A (p.Pro178Thr)not specified [RCV005300926]uncertain significance203317552833175528Humanname
598162883CV3942423single nucleotide variantNM_080574.4(BPIFA2):c.472A>G (p.Ile158Val)not specified [RCV005307306]likely benign203317546833175468Humanname
598162889CV3942424single nucleotide variantNM_080574.4(BPIFA2):c.707T>A (p.Val236Asp)not specified [RCV005307307]uncertain significance203317966533179665Humanname
598162911CV3942428single nucleotide variantNM_033197.3(BPIFB1):c.346A>G (p.Met116Val)not specified [RCV005307310]uncertain significance203328997333289973Humanname
598162917CV3942432single nucleotide variantNM_033197.3(BPIFB1):c.391T>C (p.Phe131Leu)not specified [RCV005307311]uncertain significance203329098233290982Humanname
598162929CV3942434single nucleotide variantNM_025227.3(BPIFB2):c.310G>A (p.Ala104Thr)not specified [RCV005307313]uncertain significance203301381133013811Humanname
598162941CV3942437single nucleotide variantNM_025227.3(BPIFB2):c.674T>C (p.Val225Ala)not specified [RCV005307315]uncertain significance203301864133018641Humanname
598162970CV3942448single nucleotide variantNM_182519.3(BPIFB4):c.409G>T (p.Gly137Trp)not specified [RCV005307320]uncertain significance203308360633083606Humanname
598263086CV3942450single nucleotide variantNM_182519.3(BPIFB4):c.433G>A (p.Gly145Ser)not specified [RCV005300940]uncertain significance203308363033083630Humanname
598162989CV3942453single nucleotide variantNM_182519.3(BPIFB4):c.857G>A (p.Gly286Asp)not specified [RCV005307323]uncertain significance203308609533086095Humanname
598263090CV3942454single nucleotide variantNM_174897.2(BPIFB6):c.307A>G (p.Met103Val)not specified [RCV005300941]uncertain significance203303476733034767Humanname
598263099CV3942460single nucleotide variantNM_174897.2(BPIFB6):c.958C>G (p.Pro320Ala)not specified [RCV005300944]uncertain significance203303940433039404Humanname
598263102CV3942461single nucleotide variantNM_174897.2(BPIFB6):c.859C>T (p.Pro287Ser)not specified [RCV005300945]uncertain significance203303892133038921Humanname
598163017CV3942463single nucleotide variantNM_174932.3(BPIFC):c.1277A>G (p.Asn426Ser)not specified [RCV005307327]uncertain significance223241713232417132Humanname
598263114CV3942467single nucleotide variantNM_174932.3(BPIFC):c.1291A>C (p.Ile431Leu)not specified [RCV005300948]uncertain significance223241711832417118Humanname
598263117CV3942468single nucleotide variantNM_174932.3(BPIFC):c.1092C>G (p.Ile364Met)not specified [RCV005300949]uncertain significance223243243032432430Humanname
15195138CV705435single nucleotide variantNM_033197.3(BPIFB1):c.418A>G (p.Thr140Ala)not provided [RCV000955839]benign203329100933291009Humanname
15187552CV728600single nucleotide variantNM_033197.3(BPIFB1):c.337C>T (p.Pro113Ser)not provided [RCV000887287]benign203328996433289964Humanname
15134784CV742350single nucleotide variantNM_130852.3(BPIFA1):c.309C>G (p.Asn103Lys)not provided [RCV000898349]likely benign203323820333238203Humanname
15116012CV742351single nucleotide variantNM_130852.3(BPIFA1):c.562C>A (p.Gln188Lys)not provided [RCV000895128]benign203324036633240366Humanname
8628486CV83630single nucleotide variantNM_025227.2(BPIFB2):c.617C>T (p.Ser206Phe)Malignant melanoma [RCV000063711]not provided203301829833018298Humanname
8628487CV83631single nucleotide variantNM_025227.2(BPIFB2):c.925C>T (p.Pro309Ser)Malignant melanoma [RCV000063712]not provided203301959533019595Humanname
8637256CV92482single nucleotide variantNM_025227.2(BPIFB2):c.491A>G (p.His164Arg)Malignant melanoma [RCV000072580]not provided203301547133015471Humanname
8637257CV92483single nucleotide variantNM_182519.2(BPIFB4):c.846G>A (p.Met282Ile)Malignant melanoma [RCV000072581]not provided203308608433086084Humanname
8637259CV92485single nucleotide variantNM_033197.2(BPIFB1):c.909G>A (p.Met303Ile)Malignant melanoma [RCV000072583]not provided203330139433301394Humanname
155986724CV2248006single nucleotide variantNM_001376932.3(BPIFB3):c.82G>T (p.Ala28Ser)not specified [RCV004121430]uncertain significance203305551733055517Humanname
156175593CV2254671single nucleotide variantNM_182519.3(BPIFB4):c.1278C>G (p.Phe426Leu)not specified [RCV004115157]uncertain significance203309259233092592Humanname
156337897CV2271198single nucleotide variantNM_182519.3(BPIFB4):c.1520T>C (p.Met507Thr)not specified [RCV004134559]uncertain significance203309773833097738Humanname
156281595CV2295124single nucleotide variantNM_033197.3(BPIFB1):c.1400C>G (p.Ala467Gly)not specified [RCV004156225]likely benign203330971233309712Humanname
155902414CV2301431single nucleotide variantNM_174897.2(BPIFB6):c.1243G>A (p.Val415Ile)not specified [RCV004162365]uncertain significance203304286933042869Humanname
156049263CV2336508single nucleotide variantNM_033197.3(BPIFB1):c.1238G>A (p.Gly413Glu)not specified [RCV004194716]uncertain significance203330487533304875Humanname
156080467CV2337523single nucleotide variantNM_025227.3(BPIFB2):c.1189A>T (p.Ile397Phe)not specified [RCV004187953]uncertain significance203302058233020582Humanname
155905989CV2357230single nucleotide variantNM_182519.3(BPIFB4):c.1597A>G (p.Thr533Ala)not specified [RCV004207012]uncertain significance203310045333100453Humanname
155953239CV2393923single nucleotide variantNM_025227.3(BPIFB2):c.1259C>T (p.Ala420Val)not specified [RCV004233740]uncertain significance203302172333021723Humanname
155996813CV2398610single nucleotide variantNM_182519.3(BPIFB4):c.1687C>T (p.Leu563Phe)not specified [RCV004237919]uncertain significance203310481633104816Humanname
329375653CV2431597single nucleotide variantNM_174897.2(BPIFB6):c.1280C>T (p.Pro427Leu)not specified [RCV004254745]uncertain significance203304331833043318Humanname
329352541CV2453165single nucleotide variantNM_174897.2(BPIFB6):c.1334C>A (p.Ala445Asp)not specified [RCV004279544]uncertain significance203304401933044019Humanname
401771249CV2700957single nucleotide variantNM_033197.3(BPIFB1):c.1201A>C (p.Asn401His)not specified [RCV004307218]uncertain significance203330401833304018Humanname
401861853CV2766443single nucleotide variantNM_174897.2(BPIFB6):c.1264G>C (p.Val422Leu)not specified [RCV004347073]uncertain significance203304330233043302Humanname
401878770CV2770198single nucleotide variantNM_033197.3(BPIFB1):c.1261G>A (p.Val421Ile)not specified [RCV004356090]uncertain significance203330600833306008Humanname
401895421CV2786463single nucleotide variantNM_182519.3(BPIFB4):c.1562T>C (p.Ile521Thr)not specified [RCV004362042]uncertain significance203309778033097780Humanname
405764202CV3301974single nucleotide variantNM_033197.3(BPIFB1):c.1160A>T (p.Gln387Leu)not specified [RCV004434156]uncertain significance203330397733303977Humanname
405764209CV3301975single nucleotide variantNM_033197.3(BPIFB1):c.1369G>A (p.Glu457Lys)not specified [RCV004434157]uncertain significance203330696133306961Humanname
405764244CV3301981single nucleotide variantNM_025227.3(BPIFB2):c.1289G>C (p.Gly430Ala)not specified [RCV004434163]uncertain significance203302175333021753Humanname
405764250CV3301982single nucleotide variantNM_025227.3(BPIFB2):c.1298A>G (p.Asn433Ser)not specified [RCV004434164]uncertain significance203302176233021762Humanname
405764335CV3301996single nucleotide variantNM_182519.3(BPIFB4):c.1426C>T (p.Pro476Ser)not specified [RCV004434179]uncertain significance203309764433097644Humanname
405764343CV3301997single nucleotide variantNM_182519.3(BPIFB4):c.1652T>A (p.Leu551His)not specified [RCV004434180]uncertain significance203310298633102986Humanname
405764347CV3301998single nucleotide variantNM_182519.3(BPIFB4):c.1669G>A (p.Gly557Ser)not specified [RCV004434181]uncertain significance203310300333103003Humanname
405764353CV3301999single nucleotide variantNM_182519.3(BPIFB4):c.1808T>C (p.Ile603Thr)not specified [RCV004434182]uncertain significance203310780733107807Humanname
407480089CV3424143single nucleotide variantNM_033197.3(BPIFB1):c.1217G>A (p.Arg406Gln)not specified [RCV004602150]uncertain significance203330485433304854Humanname
407480094CV3424144single nucleotide variantNM_025227.3(BPIFB2):c.1309G>T (p.Val437Phe)not specified [RCV004602151]uncertain significance203302177333021773Humanname
407500269CV3424153single nucleotide variantNM_182519.3(BPIFB4):c.1360C>G (p.Pro454Ala)not specified [RCV004607100]uncertain significance203309511533095115Humanname
407480162CV3424158single nucleotide variantNM_174897.2(BPIFB6):c.1178G>A (p.Gly393Asp)not specified [RCV004602163]uncertain significance203304200533042005Humanname
407480172CV3424160single nucleotide variantNM_174897.2(BPIFB6):c.1306C>G (p.Leu436Val)not specified [RCV004602165]uncertain significance203304334433043344Humanname
597774156CV3643331single nucleotide variantNM_033197.3(BPIFB1):c.1423T>G (p.Leu475Val)not specified [RCV004897919]uncertain significance203330973533309735Humanname
597774179CV3643339single nucleotide variantNM_025227.3(BPIFB2):c.1136C>T (p.Thr379Met)not specified [RCV004897926]uncertain significance203302038333020383Humanname
597774200CV3643346single nucleotide variantNM_025227.3(BPIFB2):c.1162A>G (p.Thr388Ala)not specified [RCV004897931]uncertain significance203302055533020555Humanname
597774211CV3643351single nucleotide variantNM_025227.3(BPIFB2):c.1049C>T (p.Ser350Leu)not specified [RCV004897934]uncertain significance203301971933019719Humanname
597774214CV3643352single nucleotide variantNM_001376932.3(BPIFB3):c.82G>A (p.Ala28Thr)not specified [RCV004897935]uncertain significance203305551733055517Humanname
597774253CV3643362single nucleotide variantNM_182519.3(BPIFB4):c.1735G>A (p.Ala579Thr)not specified [RCV004897945]likely benign203310486433104864Humanname
597774695CV3643367single nucleotide variantNM_182519.3(BPIFB4):c.1039G>A (p.Gly347Ser)not specified [RCV004897949]uncertain significance203308954633089546Humanname
597749121CV3643368single nucleotide variantNM_182519.3(BPIFB4):c.1666G>C (p.Val556Leu)not specified [RCV004892290]uncertain significance203310300033103000Humanname
597774661CV3643378single nucleotide variantNM_174897.2(BPIFB6):c.1033T>A (p.Trp345Arg)not specified [RCV004897958]likely benign203303947933039479Humanname
597774657CV3643380single nucleotide variantNM_174897.2(BPIFB6):c.1046C>A (p.Ala349Asp)not specified [RCV004897959]uncertain significance203303949233039492Humanname
598263050CV3942429single nucleotide variantNM_033197.3(BPIFB1):c.1039G>A (p.Glu347Lys)not specified [RCV005300929]uncertain significance203330297333302973Humanname
598263056CV3942431single nucleotide variantNM_033197.3(BPIFB1):c.1369G>C (p.Glu457Gln)not specified [RCV005300931]uncertain significance203330696133306961Humanname
598162923CV3942433single nucleotide variantNM_025227.3(BPIFB2):c.1342G>T (p.Val448Leu)not specified [RCV005307312]uncertain significance203302334833023348Humanname
598162935CV3942435single nucleotide variantNM_025227.3(BPIFB2):c.1247A>T (p.Asp416Val)not specified [RCV005307314]uncertain significance203302133333021333Humanname
598263059CV3942436single nucleotide variantNM_025227.3(BPIFB2):c.1342G>A (p.Val448Met)not specified [RCV005300932]uncertain significance203302334833023348Humanname
598263063CV3942438single nucleotide variantNM_025227.3(BPIFB2):c.1257T>A (p.Asn419Lys)not specified [RCV005300933]uncertain significance203302134333021343Humanname
598162953CV3942440single nucleotide variantNM_001376932.3(BPIFB3):c.77C>T (p.Thr26Met)not specified [RCV005307317]uncertain significance203305551233055512Humanname
598162960CV3942441single nucleotide variantNM_001376932.3(BPIFB3):c.73G>A (p.Gly25Ser)not specified [RCV005307318]uncertain significance203305550833055508Humanname
598263076CV3942445single nucleotide variantNM_182519.3(BPIFB4):c.1616T>A (p.Met539Lys)not specified [RCV005300937]uncertain significance203310047233100472Humanname
598163004CV3942456single nucleotide variantNM_174897.2(BPIFB6):c.1172C>T (p.Ser391Leu)not specified [RCV005307325]uncertain significance203304199933041999Humanname
598263093CV3942457single nucleotide variantNM_174897.2(BPIFB6):c.1112A>G (p.Asn371Ser)not specified [RCV005300942]uncertain significance203304028833040288Humanname
598263096CV3942459single nucleotide variantNM_174897.2(BPIFB6):c.1070A>C (p.Glu357Ala)not specified [RCV005300943]uncertain significance203303951633039516Humanname
8628488CV83632single nucleotide variantNM_001042439.2(BPIFA3):c.555G>A (p.Val185=)Malignant melanoma [RCV000063713]not provided203322697133226971Humanname
8628490CV83634single nucleotide variantNM_033197.2(BPIFB1):c.1363G>A (p.Gly455Arg)Malignant melanoma [RCV000063715]not provided203330695533306955Humanname
156293642CV2233564single nucleotide variantNM_001376932.3(BPIFB3):c.235G>C (p.Gly79Arg)not specified [RCV004100039]uncertain significance203305666433056664Humanname
156285130CV2317605single nucleotide variantNM_001376932.3(BPIFB3):c.137A>G (p.Glu46Gly)not specified [RCV004172547]likely benign203305656633056566Humanname
156197821CV2357738single nucleotide variantNM_001376932.3(BPIFB3):c.175G>A (p.Val59Met)not specified [RCV004205032]uncertain significance203305660433056604Humanname
329401657CV2457279single nucleotide variantNM_001376932.3(BPIFB3):c.203G>A (p.Gly68Glu)not specified [RCV004267130]uncertain significance203305663233056632Humanname
401878394CV2774273single nucleotide variantNM_001376932.3(BPIFB3):c.290C>T (p.Thr97Met)not specified [RCV004347638]uncertain significance203305939833059398Humanname
156168628CV2197701single nucleotide variantNM_001376932.3(BPIFB3):c.485C>G (p.Thr162Arg)not specified [RCV004074907]uncertain significance203306000133060001Humanname
156152781CV2209391single nucleotide variantNM_001376932.3(BPIFB3):c.451G>A (p.Gly151Ser)not specified [RCV004093557]uncertain significance203305996733059967Humanname
156381330CV2218744single nucleotide variantNM_001376932.3(BPIFB3):c.401C>T (p.Ala134Val)not specified [RCV004084664]uncertain significance203305991733059917Humanname
156257126CV2219833single nucleotide variantNM_001376932.3(BPIFB3):c.716T>C (p.Ile239Thr)not specified [RCV004095491]uncertain significance203306453233064532Humanname
156089161CV2241454single nucleotide variantNM_001376932.3(BPIFB3):c.556C>G (p.Leu186Val)not specified [RCV004104366]uncertain significance203306180833061808Humanname
156021324CV2264446single nucleotide variantNM_001376932.3(BPIFB3):c.494G>A (p.Gly165Asp)not specified [RCV004138344]uncertain significance203306001033060010Humanname
156007177CV2401283single nucleotide variantNM_001376932.3(BPIFB3):c.425G>A (p.Arg142Gln)not specified [RCV004245829]uncertain significance203305994133059941Humanname
329367732CV2427530single nucleotide variantNM_001376932.3(BPIFB3):c.768C>A (p.Asp256Glu)not specified [RCV004250168]uncertain significance203306470133064701Humanname
405764315CV3301993single nucleotide variantNM_001376932.3(BPIFB3):c.799C>T (p.Pro267Ser)not specified [RCV004434176]uncertain significance203306473233064732Humanname
405764321CV3301994single nucleotide variantNM_001376932.3(BPIFB3):c.892A>C (p.Met298Leu)not specified [RCV004434177]uncertain significance203306482533064825Humanname
405764329CV3301995single nucleotide variantNM_001376932.3(BPIFB3):c.904C>A (p.Pro302Thr)not specified [RCV004434178]uncertain significance203306483733064837Humanname
407480115CV3424148single nucleotide variantNM_001376932.3(BPIFB3):c.425G>T (p.Arg142Leu)not specified [RCV004602155]uncertain significance203305994133059941Humanname
597774230CV3643356single nucleotide variantNM_001376932.3(BPIFB3):c.349A>G (p.Thr117Ala)not specified [RCV004897939]uncertain significance203305945733059457Humanname
597774234CV3643357single nucleotide variantNM_001376932.3(BPIFB3):c.598A>G (p.Ser200Gly)not specified [RCV004897940]uncertain significance203306363333063633Humanname
597774238CV3643358single nucleotide variantNM_001376932.3(BPIFB3):c.400G>T (p.Ala134Ser)not specified [RCV004897941]uncertain significance203305991633059916Humanname
598162946CV3942439single nucleotide variantNM_001376932.3(BPIFB3):c.404C>T (p.Ala135Val)not specified [RCV005307316]uncertain significance203305992033059920Humanname
598263067CV3942442single nucleotide variantNM_001376932.3(BPIFB3):c.782G>A (p.Arg261His)not specified [RCV005300934]uncertain significance203306471533064715Humanname
598263073CV3942444single nucleotide variantNM_001376932.3(BPIFB3):c.997C>T (p.Leu333Phe)not specified [RCV005300936]uncertain significance203306883333068833Humanname
156271884CV2195273single nucleotide variantNM_001376932.3(BPIFB3):c.1055C>A (p.Ala352Asp)not specified [RCV004080204]uncertain significance203306889133068891Humanname
156248892CV2277046single nucleotide variantNM_001376932.3(BPIFB3):c.1102A>G (p.Lys368Glu)not specified [RCV004140366]uncertain significance203306893833068938Humanname
156044220CV2307987single nucleotide variantNM_001376932.3(BPIFB3):c.1125T>G (p.Phe375Leu)not specified [RCV004170419]uncertain significance203306896133068961Humanname
156170201CV2354847single nucleotide variantNM_001376932.3(BPIFB3):c.1196C>A (p.Ser399Tyr)not specified [RCV004191345]uncertain significance203306994633069946Humanname
156308177CV2369877single nucleotide variantNM_001376932.3(BPIFB3):c.1048A>G (p.Lys350Glu)not specified [RCV004208348]uncertain significance203306888433068884Humanname
156000017CV2378654single nucleotide variantNM_001376932.3(BPIFB3):c.1046A>G (p.Asn349Ser)not specified [RCV004231125]uncertain significance203306888233068882Humanname
401775833CV2692507single nucleotide variantNM_001376932.3(BPIFB3):c.1321G>A (p.Asp441Asn)not specified [RCV004312257]uncertain significance203307272533072725Humanname
401762777CV2720070single nucleotide variantNM_001376932.3(BPIFB3):c.1315G>A (p.Ala439Thr)not specified [RCV004323642]uncertain significance203307271933072719Humanname
405764311CV3301992single nucleotide variantNM_001376932.3(BPIFB3):c.1382T>C (p.Ile461Thr)not specified [RCV004434175]uncertain significance203307278633072786Humanname
407480109CV3424147single nucleotide variantNM_001376932.3(BPIFB3):c.1343A>T (p.Lys448Met)not specified [RCV004602154]uncertain significance203307274733072747Humanname
597774218CV3643353single nucleotide variantNM_001376932.3(BPIFB3):c.1390A>C (p.Asn464His)not specified [RCV004897936]uncertain significance203307357633073576Humanname
597774226CV3643355single nucleotide variantNM_001376932.3(BPIFB3):c.1385T>C (p.Val462Ala)not specified [RCV004897938]uncertain significance203307278933072789Humanname
597774242CV3643359single nucleotide variantNM_001376932.3(BPIFB3):c.1277A>G (p.His426Arg)not specified [RCV004897942]uncertain significance203307213233072132Humanname
597774245CV3643360single nucleotide variantNM_001376932.3(BPIFB3):c.1027C>T (p.Pro343Ser)not specified [RCV004897943]uncertain significance203306886333068863Humanname
598263070CV3942443single nucleotide variantNM_001376932.3(BPIFB3):c.1096G>A (p.Val366Ile)not specified [RCV005300935]uncertain significance203306893233068932Humanname