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Variants search result for Homo sapiens
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31 records found for search term Prkci
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405259066CV3215262single nucleotide variantNM_002740.6(PRKCI):c.223+3G>APRKCI-related disorder [RCV003942298]likely benign3170235354170235354Humanname , trait , alternate_id
405285529CV3212566single nucleotide variantNM_002740.6(PRKCI):c.1292-5T>GPRKCI-related disorder [RCV003959139]likely benign3170293378170293378Humanname , trait , alternate_id
329371071CV2431859single nucleotide variantNM_002740.6(PRKCI):c.30G>A (p.Met10Ile)not specified [RCV004254999]uncertain significance3170222699170222699Humanname
405265204CV3202106single nucleotide variantNM_002740.6(PRKCI):c.897A>C (p.Val299=)PRKCI-related disorder [RCV003897283]likely benign3170281180170281180Humanname , trait , alternate_id
597749513CV3591521single nucleotide variantNM_002740.6(PRKCI):c.52G>T (p.Gly18Cys)not specified [RCV004846241]uncertain significance3170222721170222721Humanname
598246610CV3904491single nucleotide variantNM_002740.6(PRKCI):c.56G>T (p.Ser19Ile)not specified [RCV005258515]uncertain significance3170222725170222725Humanname
156374548CV2194633single nucleotide variantNM_002740.6(PRKCI):c.194T>G (p.Leu65Arg)not specified [RCV004082037]uncertain significance3170235322170235322Humanname
156190282CV2226896single nucleotide variantNM_002740.6(PRKCI):c.293A>G (p.Asp98Gly)not specified [RCV004103871]uncertain significance3170260038170260038Humanname
329351789CV2455307single nucleotide variantNM_002740.6(PRKCI):c.266C>G (p.Ala89Gly)not specified [RCV004274815]uncertain significance3170260011170260011Humanname
597749508CV3591520single nucleotide variantNM_002740.6(PRKCI):c.259G>C (p.Glu87Gln)not specified [RCV004846240]uncertain significance3170260004170260004Humanname
597749517CV3591522single nucleotide variantNM_002740.6(PRKCI):c.187G>C (p.Glu63Gln)not specified [RCV004846242]uncertain significance3170235315170235315Humanname
598246603CV3904490single nucleotide variantNM_002740.6(PRKCI):c.187G>A (p.Glu63Lys)not specified [RCV005258514]uncertain significance3170235315170235315Humanname
156129633CV2279702single nucleotide variantNM_002740.6(PRKCI):c.728G>A (p.Gly243Asp)not specified [RCV004144322]uncertain significance3170280249170280249Humanname
156030727CV2364534single nucleotide variantNM_002740.6(PRKCI):c.563T>C (p.Ile188Thr)not specified [RCV004217393]uncertain significance3170270533170270533Humanname
156082466CV2394749single nucleotide variantNM_002740.6(PRKCI):c.656A>G (p.Tyr219Cys)not specified [RCV004234423]uncertain significance3170275238170275238Humanname
329398095CV2464768single nucleotide variantNM_002740.6(PRKCI):c.372C>G (p.Ile124Met)not specified [RCV004284727]uncertain significance3170267922170267922Humanname
405671026CV3378238single nucleotide variantNM_002740.6(PRKCI):c.416A>G (p.Asn139Ser)not specified [RCV004515163]uncertain significance3170267966170267966Humanname
405671032CV3378239single nucleotide variantNM_002740.6(PRKCI):c.815G>A (p.Arg272Gln)not specified [RCV004515164]uncertain significance3170280336170280336Humanname
407513101CV3464358single nucleotide variantNM_002740.6(PRKCI):c.709A>G (p.Met237Val)not specified [RCV004648661]uncertain significance3170280230170280230Humanname
598246597CV3904489single nucleotide variantNM_002740.6(PRKCI):c.824A>G (p.Lys275Arg)not specified [RCV005258513]uncertain significance3170280345170280345Humanname
598246624CV3904493single nucleotide variantNM_002740.6(PRKCI):c.439C>T (p.Arg147Cys)not specified [RCV005258517]uncertain significance3170267989170267989Humanname
598246632CV3904494single nucleotide variantNM_002740.6(PRKCI):c.613C>G (p.Gln205Glu)not specified [RCV005258518]uncertain significance3170273307170273307Humanname
155971303CV2262322single nucleotide variantNM_002740.6(PRKCI):c.1559C>T (p.Pro520Leu)not specified [RCV004128517]uncertain significance3170297365170297365Humanname
155953289CV2264322single nucleotide variantNM_002740.6(PRKCI):c.1327A>G (p.Met443Val)not specified [RCV004138237]uncertain significance3170293418170293418Humanname
156057442CV2343545single nucleotide variantNM_002740.6(PRKCI):c.1094C>G (p.Ala365Gly)not specified [RCV004190579]uncertain significance3170284487170284487Humanname
156164652CV2376267single nucleotide variantNM_002740.6(PRKCI):c.1615T>C (p.Phe539Leu)not specified [RCV004220485]uncertain significance3170299022170299022Humanname
329395727CV2462968single nucleotide variantNM_002740.6(PRKCI):c.1606G>A (p.Val536Ile)not specified [RCV004272803]uncertain significance3170299013170299013Humanname
329399721CV2467617single nucleotide variantNM_002740.6(PRKCI):c.1099A>G (p.Asn367Asp)not specified [RCV004287476]uncertain significance3170284492170284492Humanname
407513103CV3464359single nucleotide variantNM_002740.6(PRKCI):c.1090C>G (p.Leu364Val)not specified [RCV004648662]uncertain significance3170284483170284483Humanname
407513105CV3464360single nucleotide variantNM_002740.6(PRKCI):c.1701C>A (p.Asp567Glu)not specified [RCV004648663]uncertain significance3170299108170299108Humanname
598246616CV3904492single nucleotide variantNM_002740.6(PRKCI):c.1702G>A (p.Asp568Asn)not specified [RCV005258516]uncertain significance3170299109170299109Humanname