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26 records found for search term Gabpa
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
407486104CV3439565single nucleotide variantNM_002040.4(GABPA):c.91A>G (p.Thr31Ala)not specified [RCV004619034]uncertain significance212574522325745223Humanname
15188061CV705635single nucleotide variantNM_002040.4(GABPA):c.537C>T (p.Arg179=)not provided [RCV000953770]benign212575221825752218Humanname
15186376CV742575single nucleotide variantNM_002040.4(GABPA):c.897G>A (p.Ala299=)not provided [RCV000908790]benign212576430425764304Humanname
405732054CV3257937single nucleotide variantNM_002040.4(GABPA):c.134A>G (p.Asn45Ser)not specified [RCV004390110]uncertain significance212574526625745266Humanname
156314867CV2253324single nucleotide variantNM_002040.4(GABPA):c.325A>G (p.Asn109Asp)not specified [RCV004123157]uncertain significance212575200625752006Humanname
156264406CV2312081single nucleotide variantNM_002040.4(GABPA):c.350C>T (p.Ala117Val)not specified [RCV004165005]uncertain significance212575203125752031Humanname
156224002CV2355624single nucleotide variantNM_002040.4(GABPA):c.577C>G (p.Gln193Glu)not specified [RCV004205464]uncertain significance212575803325758033Humanname
329385441CV2432149single nucleotide variantNM_002040.4(GABPA):c.653C>T (p.Ser218Leu)not specified [RCV004249295]uncertain significance212575810925758109Humanname
329351757CV2455266single nucleotide variantNM_002040.4(GABPA):c.827T>C (p.Val276Ala)not specified [RCV004274780]uncertain significance212576423425764234Humanname
401759384CV2701525single nucleotide variantNM_002040.4(GABPA):c.546A>G (p.Ile182Met)not specified [RCV004313974]uncertain significance212575222725752227Humanname
401861268CV2755512single nucleotide variantNM_002040.4(GABPA):c.829C>A (p.Gln277Lys)not specified [RCV004340096]uncertain significance212576423625764236Humanname
401899814CV2758851single nucleotide variantNM_002040.4(GABPA):c.715A>T (p.Ile239Phe)not specified [RCV004339942]uncertain significance212575817125758171Humanname
401885094CV2759602single nucleotide variantNM_002040.4(GABPA):c.626A>C (p.Asp209Ala)not specified [RCV004338575]uncertain significance212575808225758082Humanname
401889642CV2766782single nucleotide variantNM_002040.4(GABPA):c.871G>A (p.Ala291Thr)not specified [RCV004349171]uncertain significance212576427825764278Humanname
401890794CV2772171single nucleotide variantNM_002040.4(GABPA):c.814A>C (p.Ile272Leu)not specified [RCV004346820]uncertain significance212576422125764221Humanname
405732062CV3257938single nucleotide variantNM_002040.4(GABPA):c.499G>T (p.Ala167Ser)not specified [RCV004390111]uncertain significance212575218025752180Humanname
405732070CV3257939single nucleotide variantNM_002040.4(GABPA):c.896C>T (p.Ala299Val)not specified [RCV004390112]uncertain significance212576430325764303Humanname
407486095CV3439563single nucleotide variantNM_002040.4(GABPA):c.616A>G (p.Ser206Gly)not specified [RCV004619032]uncertain significance212575807225758072Humanname
407486099CV3439564single nucleotide variantNM_002040.4(GABPA):c.998A>G (p.Lys333Arg)not specified [RCV004619033]uncertain significance212576464925764649Humanname
597743451CV3673263single nucleotide variantNM_002040.4(GABPA):c.302A>T (p.Tyr101Phe)not specified [RCV004922055]uncertain significance212574911525749115Humanname
597743456CV3673264single nucleotide variantNM_002040.4(GABPA):c.460A>G (p.Thr154Ala)not specified [RCV004922056]uncertain significance212575214125752141Humanname
597779391CV3673265single nucleotide variantNM_002040.4(GABPA):c.355A>G (p.Thr119Ala)not specified [RCV004930365]uncertain significance212575203625752036Humanname
598245015CV3977394single nucleotide variantNM_002040.4(GABPA):c.749A>G (p.Tyr250Cys)not specified [RCV005344955]uncertain significance212576231225762312Humanname
598245022CV3977395single nucleotide variantNM_002040.4(GABPA):c.841C>A (p.Pro281Thr)not specified [RCV005344956]uncertain significance212576424825764248Humanname
156275466CV2351831single nucleotide variantNM_002040.4(GABPA):c.1349C>T (p.Thr450Met)not specified [RCV004197977]uncertain significance212576921625769216Humanname
405732046CV3257936single nucleotide variantNM_002040.4(GABPA):c.1336G>T (p.Ala446Ser)not specified [RCV004390109]uncertain significance212576920325769203Humanname