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23 records found for search term Pbk
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15197856CV700553single nucleotide variantNM_018492.4(PBK):c.132A>G (p.Val44=)not provided [RCV000956584]benign82782812527828125Humanname
329391973CV2445231single nucleotide variantNM_018492.4(PBK):c.89C>T (p.Pro30Leu)not specified [RCV004263864]uncertain significance82782816827828168Humanname
155989873CV2259743single nucleotide variantNM_018492.4(PBK):c.155C>T (p.Ser52Phe)not specified [RCV004116753]uncertain significance82782320327823203Humanname
156185611CV2346533single nucleotide variantNM_018492.4(PBK):c.208T>C (p.Cys70Arg)not specified [RCV004206450]uncertain significance82782315027823150Humanname
405786349CV3374850single nucleotide variantNM_018492.4(PBK):c.227G>C (p.Ser76Thr)not specified [RCV004504889]uncertain significance82782313127823131Humanname
407479910CV3466727single nucleotide variantNM_018492.4(PBK):c.157C>T (p.Pro53Ser)not specified [RCV004664248]uncertain significance82782320127823201Humanname
597675714CV3568471single nucleotide variantNM_018492.4(PBK):c.139T>C (p.Tyr47His)not specified [RCV004830285]uncertain significance82782811827828118Humanname
156130150CV2279772single nucleotide variantNM_018492.4(PBK):c.413T>G (p.Phe138Cys)not specified [RCV004144386]uncertain significance82782237127822371Humanname
156262936CV2314931single nucleotide variantNM_018492.4(PBK):c.827G>A (p.Gly276Glu)not specified [RCV004171036]uncertain significance82781044727810447Humanname
156053586CV2388545single nucleotide variantNM_018492.4(PBK):c.928T>G (p.Ser310Ala)not specified [RCV004237395]uncertain significance82781034627810346Humanname
329374186CV2434728single nucleotide variantNM_018492.4(PBK):c.517G>A (p.Val173Ile)not specified [RCV004248438]uncertain significance82782064327820643Humanname
329400163CV2440699single nucleotide variantNM_018492.4(PBK):c.923G>A (p.Arg308His)not specified [RCV004258649]uncertain significance82781035127810351Humanname
405786354CV3374851single nucleotide variantNM_018492.4(PBK):c.335G>A (p.Cys112Tyr)not specified [RCV004504890]uncertain significance82782244927822449Humanname
405786359CV3374852single nucleotide variantNM_018492.4(PBK):c.571C>A (p.Leu191Ile)not specified [RCV004504891]uncertain significance82782058927820589Humanname
405786364CV3374853single nucleotide variantNM_018492.4(PBK):c.796T>G (p.Phe266Val)not specified [RCV004504892]uncertain significance82781047827810478Humanname
407518524CV3466728single nucleotide variantNM_018492.4(PBK):c.541A>G (p.Thr181Ala)not specified [RCV004651030]uncertain significance82782061927820619Humanname
407518527CV3466729single nucleotide variantNM_018492.4(PBK):c.452C>A (p.Ala151Glu)not specified [RCV004651031]uncertain significance82782233227822332Humanname
407518530CV3466730single nucleotide variantNM_018492.4(PBK):c.476A>T (p.Gln159Leu)not specified [RCV004651032]uncertain significance82782068427820684Humanname
597671837CV3568472single nucleotide variantNM_018492.4(PBK):c.380T>C (p.Ile127Thr)not specified [RCV004836421]uncertain significance82782240427822404Humanname
597671844CV3568473single nucleotide variantNM_018492.4(PBK):c.841A>G (p.Ile281Val)not specified [RCV004836422]likely benign82781043327810433Humanname
597671853CV3568474single nucleotide variantNM_018492.4(PBK):c.964G>T (p.Val322Phe)not specified [RCV004836423]uncertain significance82781031027810310Humanname
598245593CV3999125single nucleotide variantNM_018492.4(PBK):c.880A>G (p.Ile294Val)not specified [RCV005383923]uncertain significance82781039427810394Humanname
15197853CV700552single nucleotide variantNM_018492.4(PBK):c.660G>C (p.Glu220Asp)not provided [RCV000956583]benign82781107027811070Humanname