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


147 records found for search term Pigp
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
151768050CV1345378single nucleotide variantNM_153682.3(PIGP):c.-9C>Gnot provided [RCV001863808]uncertain significance213707252437072524Humanname
152103272CV1548546single nucleotide variantNM_153682.3(PIGP):c.-7A>Gnot provided [RCV002079264]likely benign213707252237072522Humanname
152085697CV1633564single nucleotide variantNM_153682.3(PIGP):c.-7A>Tnot provided [RCV002113358]likely benign213707252237072522Humanname
156227536CV1955853single nucleotide variantNM_153682.3(PIGP):c.-8C>Tnot provided [RCV002575755]uncertain significance213707252337072523Humanname
126726166CV1018749single nucleotide variantNM_153682.3(PIGP):c.-20T>GDevelopmental and epileptic encephalopathy, 55 [RCV001331816]|Inborn genetic diseases [RCV002546509]|not provided [RCV001871826]uncertain significance213707253537072535Human2name
151744033CV1405243single nucleotide variantNM_153682.3(PIGP):c.-17C>Tnot provided [RCV001912210]uncertain significance213707253237072532Humanname
151763348CV1499316single nucleotide variantNM_153682.3(PIGP):c.-12G>AInborn genetic diseases [RCV004038960]|not provided [RCV001863352]uncertain significance213707252737072527Human1name
156014185CV2009038duplicationNM_153682.3(PIGP):c.-13dupnot provided [RCV002690677]uncertain significance213707252737072528Humanname
152029455CV1653241variationNM_153682.3(PIGP):c.-22-26=not provided [RCV002085809]benign213707256337072563Humanname
156359113CV1925366single nucleotide variantNM_153682.3(PIGP):c.83-4A>Gnot provided [RCV002651504]likely benign213706962837069628Humanname
597839251CV3736993single nucleotide variantNM_153682.3(PIGP):c.83-3C>Tnot provided [RCV005064473]uncertain significance213706962737069627Humanname
151859007CV1343892single nucleotide variantNM_153682.3(PIGP):c.-22-7T>AInborn genetic diseases [RCV004044759]|not provided [RCV002034133]uncertain significance213707254437072544Human1name
151803510CV1351824single nucleotide variantNM_153682.3(PIGP):c.156-2A>Gnot provided [RCV001974124]uncertain significance213706738237067382Humanname
152152930CV1545198single nucleotide variantNM_153682.3(PIGP):c.82+15G>Anot provided [RCV002139799]likely benign213707241937072419Humanname
152101937CV1547044single nucleotide variantNM_153682.3(PIGP):c.274+8T>Cnot provided [RCV002151914]likely benign213706725437067254Humanname
152170760CV1592571single nucleotide variantNM_153682.3(PIGP):c.82+11T>Cnot provided [RCV002161878]likely benign213707242337072423Humanname
152072911CV1609662single nucleotide variantNM_153682.3(PIGP):c.156-6T>Cnot provided [RCV002129837]benign213706738637067386Humanname
152144255CV1651639single nucleotide variantNM_153682.3(PIGP):c.82+15G>Tnot provided [RCV002138579]likely benign213707241937072419Humanname
156419849CV1967472single nucleotide variantNM_153682.3(PIGP):c.156-7T>Anot provided [RCV002613095]likely benign213706738737067387Humanname
156322695CV1992307single nucleotide variantNM_153682.3(PIGP):c.82+18G>Cnot provided [RCV002649356]likely benign213707241637072416Humanname
156282852CV2051425single nucleotide variantNM_153682.3(PIGP):c.156-9C>Tnot provided [RCV002832900]likely benign213706738937067389Humanname
156309552CV2150212single nucleotide variantNM_153682.3(PIGP):c.82+18G>Anot provided [RCV003028497]likely benign213707241637072416Humanname
156287705CV2192129duplicationNM_153682.3(PIGP):c.83-18dupnot provided [RCV003045010]benign213706964137069642Humanname
405168343CV2854025single nucleotide variantNM_153682.3(PIGP):c.275-6T>Cnot provided [RCV003541966]likely benign213706571837065718Humanname
405222774CV2976217single nucleotide variantNM_153682.3(PIGP):c.275-7C>Anot provided [RCV003680846]likely benign213706571937065719Humanname
405115786CV2996472single nucleotide variantNM_153682.3(PIGP):c.275-4A>Gnot provided [RCV003723342]likely benign213706571637065716Humanname
405219071CV3135768single nucleotide variantNM_153682.3(PIGP):c.274+9A>Gnot provided [RCV003824393]likely benign213706725337067253Humanname
597877553CV3813324single nucleotide variantNM_153682.3(PIGP):c.83-13T>Cnot provided [RCV005149260]likely benign213706963737069637Humanname
151804117CV1352770single nucleotide variantNM_153682.3(PIGP):c.-22-48G>Cnot provided [RCV001899335]uncertain significance213707258537072585Humanname
151709459CV1375885single nucleotide variantNM_153682.3(PIGP):c.-22-34C>Tnot provided [RCV001963992]uncertain significance213707257137072571Humanname
151879942CV1388348single nucleotide variantNM_153682.3(PIGP):c.-22-47G>Anot provided [RCV001982386]uncertain significance213707258437072584Humanname
151732034CV1419375single nucleotide variantNM_153682.3(PIGP):c.-22-41C>GInborn genetic diseases [RCV004651850]|not provided [RCV001946150]likely benign|uncertain significance213707257837072578Human1name
151879500CV1419433single nucleotide variantNM_153682.3(PIGP):c.-22-22T>Cnot provided [RCV001982328]uncertain significance213707255937072559Humanname
151891631CV1502807single nucleotide variantNM_153682.3(PIGP):c.-22-50A>Gnot provided [RCV001943441]uncertain significance213707258737072587Humanname
152038417CV1525085single nucleotide variantNM_153682.3(PIGP):c.-22-33A>Gnot provided [RCV002165321]likely benign213707257037072570Humanname
152088772CV1539854deletionNM_153682.3(PIGP):c.274+12delnot provided [RCV002131780]likely benign213706725037067250Humanname
152171296CV1552686single nucleotide variantNM_153682.3(PIGP):c.274+11A>Gnot provided [RCV002143401]likely benign213706725137067251Humanname
152119995CV1576125single nucleotide variantNM_153682.3(PIGP):c.275-20T>Anot provided [RCV002197918]likely benign213706573237065732Humanname
152143475CV1579664single nucleotide variantNM_153682.3(PIGP):c.-22-24G>Anot provided [RCV002084474]likely benign213707256137072561Humanname
152140966CV1613939single nucleotide variantNM_153682.3(PIGP):c.-22-30G>Tnot provided [RCV002084150]likely benign213707256737072567Humanname
152073642CV1615480single nucleotide variantNM_153682.3(PIGP):c.-22-12C>Tnot provided [RCV002091929]likely benign213707254937072549Humanname
152166200CV1620837single nucleotide variantNM_153682.3(PIGP):c.156-16A>Cnot provided [RCV002181886]likely benign213706739637067396Humanname
152146708CV1635531single nucleotide variantNM_153682.3(PIGP):c.-22-44C>TPIGP-related disorder [RCV003973329]|not provided [RCV002201345]benign213707258137072581Human1name , trait , alternate_id
152142764CV1640700single nucleotide variantNM_153682.3(PIGP):c.-22-36C>Tnot provided [RCV002178277]likely benign213707257337072573Humanname
152122900CV1641023single nucleotide variantNM_153682.3(PIGP):c.-22-45G>Anot provided [RCV002098406]likely benign213707258237072582Humanname
155985284CV1979561single nucleotide variantNM_153682.3(PIGP):c.-22-25C>GInborn genetic diseases [RCV003308184]|not provided [RCV002617780]uncertain significance213707256237072562Human1name
156078570CV2083583single nucleotide variantNM_153682.3(PIGP):c.-22-49T>Cnot provided [RCV002847309]uncertain significance213707258637072586Humanname
155914229CV2145203single nucleotide variantNM_153682.3(PIGP):c.-22-36C>Anot provided [RCV002991549]uncertain significance213707257337072573Humanname
155921132CV2148421single nucleotide variantNM_153682.3(PIGP):c.155+14A>Gnot provided [RCV003013194]likely benign213706953837069538Humanname
155991249CV2148997single nucleotide variantNM_153682.3(PIGP):c.-22-47G>Cnot provided [RCV002996579]uncertain significance213707258437072584Humanname
155947962CV2151012single nucleotide variantNM_153682.3(PIGP):c.156-11C>Tnot provided [RCV003014683]likely benign213706739137067391Humanname
405230585CV2904892single nucleotide variantNM_153682.3(PIGP):c.274+18G>Cnot provided [RCV003555316]likely benign213706724437067244Humanname
405222768CV2976218single nucleotide variantNM_153682.3(PIGP):c.275-13T>Cnot provided [RCV003680847]likely benign213706572537065725Humanname
405222761CV2976219single nucleotide variantNM_153682.3(PIGP):c.275-15G>Tnot provided [RCV003680848]likely benign213706572737065727Humanname
405177638CV3148629single nucleotide variantNM_153682.3(PIGP):c.275-14G>Anot provided [RCV003858406]likely benign213706572637065726Humanname
405289108CV3204982single nucleotide variantNM_153682.3(PIGP):c.-22-57T>CPIGP-related disorder [RCV003961613]likely benign213707259437072594Humanname , trait , alternate_id
597925875CV3808792single nucleotide variantNM_153682.3(PIGP):c.274+13A>Gnot provided [RCV005156307]likely benign213706724937067249Humanname
597962350CV3809148single nucleotide variantNM_153682.3(PIGP):c.-22-18T>Cnot provided [RCV005164050]likely benign213707255537072555Humanname
597831157CV3820269single nucleotide variantNM_153682.3(PIGP):c.-22-30G>Anot provided [RCV005170046]likely benign213707256737072567Humanname
14703859CV654921duplicationNM_153682.3(PIGP):c.-22-15_-18dupnot specified [RCV000825435]uncertain significance213707253237072533Humanname
156378649CV1953736microsatelliteNM_153682.3(PIGP):c.-22-3_-22-2delnot provided [RCV002583008]uncertain significance213707253937072540Humanname
597945179CV3776798single nucleotide variantNM_153682.3(PIGP):c.9A>G (p.Glu3=)not provided [RCV005119654]likely benign213707250737072507Humanname
402496127CV3005817single nucleotide variantNM_153682.3(PIGP):c.15A>C (p.Ser5=)not provided [RCV003688028]likely benign213707250137072501Humanname
405186008CV3040470single nucleotide variantNM_153682.3(PIGP):c.21G>C (p.Ser7=)not provided [RCV003706021]likely benign213707249537072495Humanname
151852047CV1448232single nucleotide variantNM_153682.3(PIGP):c.4G>T (p.Val2Leu)Inborn genetic diseases [RCV002556316]|not provided [RCV001922926]uncertain significance213707251237072512Human1name
152064555CV1535824single nucleotide variantNM_153682.3(PIGP):c.66C>T (p.Ser22=)not provided [RCV002168454]likely benign213707245037072450Humanname
152157731CV1630615single nucleotide variantNM_153682.3(PIGP):c.78C>A (p.Gly26=)PIGP-related disorder [RCV003923626]|not provided [RCV002122661]benign|likely benign213707243837072438Human1name , trait , alternate_id
156405208CV1994292single nucleotide variantNM_153682.3(PIGP):c.48C>T (p.Gly16=)not provided [RCV002658250]likely benign213707246837072468Humanname
12854345CV384447single nucleotide variantNM_153682.3(PIGP):c.2T>C (p.Met1Thr)Developmental and epileptic encephalopathy [RCV000449500]|Developmental and epileptic encephalopathy, 55 [RCV000496825]|PIGP-related disorder [RCV004758690]|See cases [RCV002252129]|not provided [RCV001851116]pathogenic|likely pathogenic|uncertain significance213707251437072514Human2name , trait , alternate_id
151829968CV1423569deletionNM_153682.3(PIGP):c.91del (p.Leu31fs)not provided [RCV001976555]uncertain significance213706961637069616Humanname
152067210CV1534598single nucleotide variantNM_153682.3(PIGP):c.264T>C (p.His88=)not provided [RCV002110949]likely benign213706727237067272Humanname
152176346CV1541627single nucleotide variantNM_153682.3(PIGP):c.105T>C (p.Phe35=)not provided [RCV002164491]likely benign213706960237069602Humanname
152061997CV1558452single nucleotide variantNM_153682.3(PIGP):c.189T>C (p.Leu63=)not provided [RCV002128442]likely benign213706734737067347Humanname
152094778CV1599375single nucleotide variantNM_153682.3(PIGP):c.210C>T (p.Tyr70=)not provided [RCV002094689]likely benign213706732637067326Humanname
152126097CV1665879single nucleotide variantNM_153682.3(PIGP):c.180C>A (p.Val60=)not provided [RCV002198692]likely benign213706735637067356Humanname
156408367CV1957813single nucleotide variantNM_153682.3(PIGP):c.177T>C (p.Pro59=)not provided [RCV002586495]likely benign213706735937067359Humanname
156399881CV1982185single nucleotide variantNM_153682.3(PIGP):c.252C>T (p.Leu84=)not provided [RCV002635868]likely benign213706728437067284Humanname
155907372CV2077431single nucleotide variantNM_153682.3(PIGP):c.243C>A (p.Thr81=)not provided [RCV002858238]likely benign213706729337067293Humanname
156137955CV2129160single nucleotide variantNM_153682.3(PIGP):c.111T>G (p.Pro37=)PIGP-related disorder [RCV004758898]|not provided [RCV002954118]likely benign213706959637069596Human1name , trait , alternate_id
156105432CV2160906single nucleotide variantNM_153682.3(PIGP):c.282T>C (p.Tyr94=)not provided [RCV003038737]likely benign213706570537065705Humanname
329377798CV2450115single nucleotide variantNM_153682.3(PIGP):c.27G>T (p.Leu9Phe)Inborn genetic diseases [RCV003186517]uncertain significance213707248937072489Human1name
402480856CV2911031single nucleotide variantNM_153682.3(PIGP):c.186C>T (p.Leu62=)not provided [RCV003572062]likely benign213706735037067350Humanname
405164156CV3160405single nucleotide variantNM_153682.3(PIGP):c.243C>T (p.Thr81=)not provided [RCV003857284]likely benign213706729337067293Humanname
402522835CV3175767single nucleotide variantNM_153682.3(PIGP):c.291T>C (p.Asn97=)not provided [RCV003879867]likely benign213706569637065696Humanname
597934416CV3777045single nucleotide variantNM_153682.3(PIGP):c.14C>A (p.Ser5Ter)not provided [RCV005117204]uncertain significance213707250237072502Humanname
597920359CV3781240single nucleotide variantNM_153682.3(PIGP):c.177T>G (p.Pro59=)not provided [RCV005130122]likely benign213706735937067359Humanname
21073223CV792008single nucleotide variantNM_153682.3(PIGP):c.22C>G (p.Pro8Ala)Developmental and epileptic encephalopathy, 55 [RCV000990349]|not provided [RCV001858722]uncertain significance213707249437072494Human1name
151754513CV1343219deletionNM_153682.3(PIGP):c.290del (p.Asn97fs)not provided [RCV002043621]conflicting interpretations of pathogenicity|uncertain significance213706569737065697Humanname
151812982CV1371678single nucleotide variantNM_153682.3(PIGP):c.83T>G (p.Ile28Arg)Inborn genetic diseases [RCV002557713]|not provided [RCV001933391]uncertain significance213706962437069624Human1name
151859061CV1389537single nucleotide variantNM_153682.3(PIGP):c.94G>A (p.Val32Met)Inborn genetic diseases [RCV004953200]|not provided [RCV001905050]uncertain significance213706961337069613Human1name
151778387CV1463317single nucleotide variantNM_153682.3(PIGP):c.59T>C (p.Phe20Ser)not provided [RCV001875126]uncertain significance213707245737072457Humanname
151734097CV1512520single nucleotide variantNM_153682.3(PIGP):c.88T>A (p.Tyr30Asn)not provided [RCV002021597]uncertain significance213706961937069619Humanname
152065784CV1601523single nucleotide variantNM_153682.3(PIGP):c.52G>A (p.Val18Ile)not provided [RCV002168633]benign213707246437072464Humanname
152063749CV1606494single nucleotide variantNM_153682.3(PIGP):c.381C>T (p.Ala127=)not provided [RCV002209027]likely benign213706560637065606Humanname
156089911CV1994264single nucleotide variantNM_153682.3(PIGP):c.82A>G (p.Ile28Val)not provided [RCV002639183]uncertain significance213707243437072434Humanname
156356871CV2006604single nucleotide variantNM_153682.3(PIGP):c.55C>T (p.Leu19Phe)not provided [RCV002675986]uncertain significance213707246137072461Humanname
155955244CV2069852single nucleotide variantNM_153682.3(PIGP):c.345T>C (p.Ser115=)not provided [RCV002816481]likely benign213706564237065642Humanname
156403025CV2189695single nucleotide variantNM_153682.3(PIGP):c.62T>C (p.Leu21Ser)not provided [RCV003052512]uncertain significance213707245437072454Humanname
155986285CV2233974single nucleotide variantNM_153682.3(PIGP):c.71A>G (p.Gln24Arg)Inborn genetic diseases [RCV002732913]uncertain significance213707244537072445Human1name
405041850CV3064077single nucleotide variantNM_153682.3(PIGP):c.309C>T (p.Tyr103=)not provided [RCV003739958]likely benign213706567837065678Humanname
405203545CV3143922single nucleotide variantNM_153682.3(PIGP):c.318G>A (p.Glu106=)not provided [RCV003844712]likely benign213706566937065669Humanname
405779754CV3372468single nucleotide variantNM_153682.3(PIGP):c.49T>C (p.Phe17Leu)Inborn genetic diseases [RCV004503737]uncertain significance213707246737072467Human1name
597858605CV3769648single nucleotide variantNM_153682.3(PIGP):c.378A>G (p.Ala126=)not provided [RCV005105690]likely benign213706560937065609Humanname
15180069CV728902single nucleotide variantNM_153682.3(PIGP):c.369C>T (p.Phe123=)not provided [RCV000885437]benign|likely benign213706561837065618Humanname
15158082CV728903single nucleotide variantNM_153682.3(PIGP):c.327A>C (p.Pro109=)not provided [RCV000880941]benign213706566037065660Humanname
151854271CV1344311single nucleotide variantNM_153682.3(PIGP):c.239G>A (p.Ser80Asn)not provided [RCV001923196]uncertain significance213706729737067297Humanname
151868673CV1345638single nucleotide variantNM_153682.3(PIGP):c.214C>T (p.Leu72Phe)Inborn genetic diseases [RCV004953278]|not provided [RCV001924922]uncertain significance213706732237067322Human1name
151825249CV1373416single nucleotide variantNM_153682.3(PIGP):c.116C>T (p.Ser39Phe)not provided [RCV001934529]uncertain significance213706959137069591Humanname
151789835CV1397133single nucleotide variantNM_153682.3(PIGP):c.115T>C (p.Ser39Pro)Inborn genetic diseases [RCV004656733]|not provided [RCV001951942]uncertain significance213706959237069592Human1name
151802333CV1404933single nucleotide variantNM_153682.3(PIGP):c.199G>A (p.Val67Ile)not provided [RCV001932428]uncertain significance213706733737067337Humanname
151890519CV1405214single nucleotide variantNM_153682.3(PIGP):c.211G>A (p.Val71Met)not provided [RCV001888431]uncertain significance213706732537067325Humanname
151810060CV1417299single nucleotide variantNM_153682.3(PIGP):c.181T>C (p.Tyr61His)not provided [RCV002028882]uncertain significance213706735537067355Humanname
151837233CV1445147single nucleotide variantNM_153682.3(PIGP):c.226A>T (p.Ile76Phe)Inborn genetic diseases [RCV004042467]|not provided [RCV001994324]uncertain significance213706731037067310Human1name
151849715CV1453258single nucleotide variantNM_153682.3(PIGP):c.277A>G (p.Asn93Asp)not provided [RCV002033000]uncertain significance213706571037065710Humanname
151745679CV1461105single nucleotide variantNM_153682.3(PIGP):c.292C>T (p.Gln98Ter)not provided [RCV001871487]uncertain significance213706569537065695Humanname
151879461CV1490858single nucleotide variantNM_153682.3(PIGP):c.197T>C (p.Ile66Thr)not provided [RCV001940811]uncertain significance213706733937067339Humanname
151888335CV1517044single nucleotide variantNM_153682.3(PIGP):c.284C>A (p.Ala95Glu)Inborn genetic diseases [RCV005382369]|not provided [RCV002038381]uncertain significance213706570337065703Human1name
155745491CV1771570single nucleotide variantNM_153682.3(PIGP):c.167T>G (p.Val56Gly)not provided [RCV002303351]uncertain significance213706736937067369Humanname
155940010CV1913572single nucleotide variantNM_153682.3(PIGP):c.253G>A (p.Asp85Asn)not provided [RCV002615566]uncertain significance213706728337067283Humanname
156022883CV2025521single nucleotide variantNM_153682.3(PIGP):c.182A>G (p.Tyr61Cys)not provided [RCV002735459]uncertain significance213706735437067354Humanname
155916668CV2029808single nucleotide variantNM_153682.3(PIGP):c.237G>A (p.Met79Ile)not provided [RCV002750501]uncertain significance213706729937067299Humanname
156037879CV2047741single nucleotide variantNM_153682.3(PIGP):c.215T>C (p.Leu72Pro)Inborn genetic diseases [RCV004064771]|not provided [RCV002781379]uncertain significance213706732137067321Human1name
156281811CV2049991single nucleotide variantNM_153682.3(PIGP):c.173T>C (p.Leu58Ser)not provided [RCV002807015]uncertain significance213706736337067363Humanname
156156669CV2098783single nucleotide variantNM_153682.3(PIGP):c.233T>C (p.Met78Thr)not provided [RCV002890835]uncertain significance213706730337067303Humanname
155977392CV2147555single nucleotide variantNM_153682.3(PIGP):c.259A>T (p.Ile87Phe)not provided [RCV003033715]uncertain significance213706727737067277Humanname
405690992CV3227470single nucleotide variantNM_153682.3(PIGP):c.176C>T (p.Pro59Leu)Developmental and epileptic encephalopathy, 55 [RCV003991815]uncertain significance213706736037067360Human1name
597910675CV3830197single nucleotide variantNM_153682.3(PIGP):c.181T>G (p.Tyr61Asp)not provided [RCV005182767]uncertain significance213706735537067355Humanname
12854352CV384446deletionNM_153682.3(PIGP):c.384del (p.Glu129fs)Developmental and epileptic encephalopathy [RCV000449561]|Developmental and epileptic encephalopathy, 55 [RCV000496365]|not provided [RCV001543513]pathogenic|likely pathogenic|likely benign|uncertain significance213706560337065603Human2name
15173166CV717203single nucleotide variantNM_153682.3(PIGP):c.281A>G (p.Tyr94Cys)not provided [RCV000972560]benign213706570637065706Humanname
15158087CV728904single nucleotide variantNM_153682.3(PIGP):c.196A>G (p.Ile66Val)not provided [RCV000880942]benign213706734037067340Humanname
151883698CV1338096single nucleotide variantNM_153682.3(PIGP):c.361C>T (p.Gln121Ter)not provided [RCV001962185]uncertain significance213706562637065626Humanname
151808822CV1384036duplicationNM_153682.3(PIGP):c.308dup (p.Tyr103Ter)not provided [RCV001878058]uncertain significance213706567837065679Humanname
151846234CV1395266single nucleotide variantNM_153682.3(PIGP):c.341T>C (p.Ile114Thr)not provided [RCV001995371]uncertain significance213706564637065646Humanname
151880467CV1405888single nucleotide variantNM_153682.3(PIGP):c.380C>T (p.Ala127Val)not provided [RCV001940948]uncertain significance213706560737065607Humanname
151845060CV1438530single nucleotide variantNM_153682.3(PIGP):c.332T>G (p.Leu111Ter)not provided [RCV001957227]uncertain significance213706565537065655Humanname
151852247CV1459527single nucleotide variantNM_153682.3(PIGP):c.352G>C (p.Glu118Gln)not provided [RCV002033331]uncertain significance213706563537065635Humanname
152088030CV1638835single nucleotide variantNM_153682.3(PIGP):c.336A>C (p.Arg112Ser)PIGP-related disorder [RCV003978764]|not provided [RCV002150213]benign213706565137065651Human1name , trait , alternate_id
156194790CV1900585single nucleotide variantNM_153682.3(PIGP):c.343T>G (p.Ser115Ala)not provided [RCV002574532]uncertain significance213706564437065644Humanname
156334681CV1905904single nucleotide variantNM_153682.3(PIGP):c.376G>C (p.Ala126Pro)not provided [RCV003090001]uncertain significance213706561137065611Humanname
156357115CV1962495single nucleotide variantNM_153682.3(PIGP):c.307T>C (p.Tyr103His)not provided [RCV002581467]uncertain significance213706568037065680Humanname
156185237CV1964587single nucleotide variantNM_153682.3(PIGP):c.333A>T (p.Leu111Phe)Inborn genetic diseases [RCV004651987]|not provided [RCV002574238]uncertain significance213706565437065654Human1name
156012788CV2013098single nucleotide variantNM_153682.3(PIGP):c.322A>G (p.Ile108Val)not provided [RCV002734984]uncertain significance213706566537065665Humanname
155952856CV2169847single nucleotide variantNM_153682.3(PIGP):c.322A>T (p.Ile108Phe)Inborn genetic diseases [RCV003308435]|not provided [RCV003014942]uncertain significance213706566537065665Human1name
407530660CV3463500single nucleotide variantNM_153682.3(PIGP):c.376G>T (p.Ala126Ser)Inborn genetic diseases [RCV004657174]uncertain significance213706561137065611Human1name
597715887CV3579592single nucleotide variantNM_153682.3(PIGP):c.334A>G (p.Arg112Gly)Inborn genetic diseases [RCV004959776]uncertain significance213706565337065653Human1name
597715894CV3579593single nucleotide variantNM_153682.3(PIGP):c.314A>G (p.Glu105Gly)Inborn genetic diseases [RCV004959777]uncertain significance213706567337065673Human1name
151798536CV1352769insertionNM_153682.3(PIGP):c.-22-48_-22-47insACGATnot provided [RCV001877161]uncertain significance213707258437072585Humanname