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33 records found for search term Prps1l1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405796305CV3377574single nucleotide variantNM_175886.3(PRPS1L1):c.65G>T (p.Arg22Leu)not specified [RCV004507586]uncertain significance71802771818027718Humanname
405796184CV3377579single nucleotide variantNM_175886.3(PRPS1L1):c.87G>C (p.Lys29Asn)not specified [RCV004507591]uncertain significance71802769618027696Humanname
155976621CV2342795single nucleotide variantNM_175886.3(PRPS1L1):c.163A>G (p.Ile55Val)not specified [RCV004189836]uncertain significance71802762018027620Humanname
156382553CV2367324single nucleotide variantNM_175886.3(PRPS1L1):c.133G>A (p.Asp45Asn)not specified [RCV004208828]uncertain significance71802765018027650Humanname
407513562CV3461257single nucleotide variantNM_175886.3(PRPS1L1):c.107G>A (p.Ser36Asn)not specified [RCV004648871]uncertain significance71802767618027676Humanname
407513566CV3461259single nucleotide variantNM_175886.3(PRPS1L1):c.242C>T (p.Ser81Leu)not specified [RCV004648872]uncertain significance71802754118027541Humanname
155974287CV2211150single nucleotide variantNM_175886.3(PRPS1L1):c.379A>G (p.Met127Val)not specified [RCV004088320]uncertain significance71802740418027404Humanname
155979252CV2215165single nucleotide variantNM_175886.3(PRPS1L1):c.352A>C (p.Ile118Leu)not specified [RCV004086883]uncertain significance71802743118027431Humanname
156046982CV2216123single nucleotide variantNM_175886.3(PRPS1L1):c.524C>A (p.Ala175Asp)not specified [RCV004097130]uncertain significance71802725918027259Humanname
156337205CV2228657single nucleotide variantNM_175886.3(PRPS1L1):c.384C>G (p.Asp128Glu)not specified [RCV004092880]uncertain significance71802739918027399Humanname
156101590CV2291381single nucleotide variantNM_175886.3(PRPS1L1):c.836A>G (p.Glu279Gly)not specified [RCV004162064]uncertain significance71802694718026947Humanname
156047799CV2315720single nucleotide variantNM_175886.3(PRPS1L1):c.539C>G (p.Ser180Cys)not specified [RCV004169734]uncertain significance71802724418027244Humanname
156254549CV2325647single nucleotide variantNM_175886.3(PRPS1L1):c.444G>C (p.Glu148Asp)not specified [RCV004180057]uncertain significance71802733918027339Humanname
156116962CV2349426single nucleotide variantNM_175886.3(PRPS1L1):c.869T>C (p.Ile290Thr)not specified [RCV004199353]uncertain significance71802691418026914Humanname
156115374CV2392308single nucleotide variantNM_175886.3(PRPS1L1):c.701A>C (p.Asp234Ala)not specified [RCV004243909]uncertain significance71802708218027082Humanname
329362209CV2448415single nucleotide variantNM_175886.3(PRPS1L1):c.902G>A (p.Arg301Lys)not specified [RCV004256699]uncertain significance71802688118026881Humanname
329376818CV2460549single nucleotide variantNM_175886.3(PRPS1L1):c.371T>C (p.Ile124Thr)not specified [RCV004268830]uncertain significance71802741218027412Humanname
401758598CV2694182single nucleotide variantNM_175886.3(PRPS1L1):c.658G>C (p.Asp220His)not specified [RCV004302605]uncertain significance71802712518027125Humanname
405796309CV3377572single nucleotide variantNM_175886.3(PRPS1L1):c.433T>G (p.Leu145Val)not specified [RCV004507584]uncertain significance71802735018027350Humanname
405796308CV3377573single nucleotide variantNM_175886.3(PRPS1L1):c.589A>G (p.Lys197Glu)not specified [RCV004507585]uncertain significance71802719418027194Humanname
405796302CV3377575single nucleotide variantNM_175886.3(PRPS1L1):c.694G>A (p.Ala232Thr)not specified [RCV004507587]uncertain significance71802708918027089Humanname
405796299CV3377576single nucleotide variantNM_175886.3(PRPS1L1):c.755T>G (p.Ile252Ser)not specified [RCV004507588]uncertain significance71802702818027028Humanname
405796296CV3377577single nucleotide variantNM_175886.3(PRPS1L1):c.850T>A (p.Cys284Ser)not specified [RCV004507589]uncertain significance71802693318026933Humanname
405796294CV3377578single nucleotide variantNM_175886.3(PRPS1L1):c.851G>T (p.Cys284Phe)not specified [RCV004507590]uncertain significance71802693218026932Humanname
407466131CV3461258single nucleotide variantNM_175886.3(PRPS1L1):c.319A>G (p.Ile107Val)not specified [RCV004660391]uncertain significance71802746418027464Humanname
407513569CV3461260single nucleotide variantNM_175886.3(PRPS1L1):c.449C>T (p.Thr150Ile)not specified [RCV004648873]uncertain significance71802733418027334Humanname
407466137CV3461262single nucleotide variantNM_175886.3(PRPS1L1):c.776C>T (p.Ser259Phe)not specified [RCV004660393]uncertain significance71802700718027007Humanname
597759760CV3588318single nucleotide variantNM_175886.3(PRPS1L1):c.353T>C (p.Ile118Thr)not specified [RCV004848810]uncertain significance71802743018027430Humanname
597759764CV3588319single nucleotide variantNM_175886.3(PRPS1L1):c.746C>T (p.Thr249Ile)not specified [RCV004848811]uncertain significance71802703718027037Humanname
597759769CV3588320single nucleotide variantNM_175886.3(PRPS1L1):c.599A>G (p.Asn200Ser)not specified [RCV004848812]uncertain significance71802718418027184Humanname
598248771CV3901356single nucleotide variantNM_175886.3(PRPS1L1):c.914A>C (p.Asn305Thr)not specified [RCV005258831]uncertain significance71802686918026869Humanname
598248785CV3901358single nucleotide variantNM_175886.3(PRPS1L1):c.935T>C (p.Leu312Pro)not specified [RCV005258833]uncertain significance71802684818026848Humanname
598248793CV3901359single nucleotide variantNM_175886.3(PRPS1L1):c.573G>C (p.Leu191Phe)not specified [RCV005258834]uncertain significance71802721018027210Humanname